Variant report

Variant	nsv1061168
Chromosome Location	chr22:22303401-22579822
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7558)
CpG islands
(count:2688)
Chromatin interactive
region (count:453)
LncRNA
region (count:39)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7558 , 50 per page) page: 1 2 3 4 5 6 7 ... 152

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:22510976-22511458	K562	blood:	n/a	n/a
2	ARID3A	chr22:22535924-22535987	HepG2	liver:	n/a	n/a
3	ARID3A	chr22:22477001-22477277	K562	blood:	n/a	n/a
4	ARID3A	chr22:22463869-22465524	K562	blood:	n/a	n/a
5	ARID3A	chr22:22549750-22550101	K562	blood:	n/a	n/a
6	ARID3A	chr22:22560720-22560804	HepG2	liver:	n/a	n/a
7	ARID3A	chr22:22415907-22416441	HepG2	liver:	n/a	n/a
8	ARID3A	chr22:22392224-22392534	K562	blood:	n/a	n/a
9	ARID3A	chr22:22465810-22466041	K562	blood:	n/a	n/a
10	ARID3A	chr22:22307655-22307768	HepG2	liver:	n/a	n/a
11	ARID3A	chr22:22468023-22468176	K562	blood:	n/a	n/a
12	ARID3A	chr22:22564820-22564910	K562	blood:	n/a	n/a
13	ARID3A	chr22:22337039-22337516	K562	blood:	n/a	n/a
14	ARID3A	chr22:22355812-22356985	K562	blood:	n/a	n/a
15	ARID3A	chr22:22337105-22337394	HepG2	liver:	n/a	n/a
16	ARID3A	chr22:22457409-22457646	K562	blood:	n/a	n/a
17	ARID3A	chr22:22384968-22385236	K562	blood:	n/a	n/a
18	ARID3A	chr22:22339268-22339597	K562	blood:	n/a	n/a
19	ARID3A	chr22:22417403-22417736	K562	blood:	n/a	n/a
20	ARID3A	chr22:22378057-22378223	K562	blood:	n/a	n/a
21	ARID3A	chr22:22306577-22306630	HepG2	liver:	n/a	n/a
22	ARID3A	chr22:22415118-22415318	HepG2	liver:	n/a	n/a
23	ARID3A	chr22:22307263-22307486	K562	blood:	n/a	n/a
24	ARID3A	chr22:22415037-22415189	K562	blood:	n/a	n/a
25	ARID3A	chr22:22442521-22442964	HepG2	liver:	n/a	n/a
26	ATF1	chr22:22372503-22372604	K562	blood:	n/a	n/a
27	ATF1	chr22:22360525-22360873	K562	blood:	n/a	n/a
28	ATF1	chr22:22564831-22565179	K562	blood:	n/a	n/a
29	ATF1	chr22:22356266-22356718	K562	blood:	n/a	n/a
30	ATF1	chr22:22522930-22523217	K562	blood:	n/a	n/a
31	ATF1	chr22:22475770-22475855	K562	blood:	n/a	n/a
32	ATF1	chr22:22443522-22443568	K562	blood:	n/a	n/a
33	ATF1	chr22:22378052-22378257	K562	blood:	n/a	n/a
34	ATF1	chr22:22387947-22388240	K562	blood:	n/a	n/a
35	ATF1	chr22:22503937-22503949	K562	blood:	n/a	n/a
36	ATF1	chr22:22416087-22416336	K562	blood:	n/a	n/a
37	ATF1	chr22:22512634-22512947	K562	blood:	n/a	n/a
38	ATF1	chr22:22511153-22511471	K562	blood:	n/a	n/a
39	ATF1	chr22:22417546-22417837	K562	blood:	n/a	n/a
40	ATF1	chr22:22392194-22392539	K562	blood:	n/a	n/a
41	ATF1	chr22:22369120-22369190	K562	blood:	n/a	n/a
42	ATF1	chr22:22424538-22424979	K562	blood:	n/a	n/a
43	ATF1	chr22:22367936-22368085	K562	blood:	n/a	n/a
44	ATF2	chr22:22380485-22381465	GM12878	blood:	n/a	n/a
45	ATF2	chr22:22377217-22377748	GM12878	blood:	n/a	n/a
46	ATF2	chr22:22384792-22385975	GM12878	blood:	n/a	n/a
47	ATF2	chr22:22522066-22522590	GM12878	blood:	n/a	n/a
48	ATF2	chr22:22337046-22337443	GM12878	blood:	n/a	n/a
49	ATF2	chr22:22337013-22337406	H1-hESC	embryonic stem cell:	n/a	n/a
50	ATF2	chr22:22336963-22337512	GM12878	blood:	n/a	n/a

(count:2688 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:22312957-22313007	NHBE	bronchial:	n/a
2	chr22:22337178-22337228	HRE	kidney:	n/a
3	chr22:22315643-22315693	HUVEC	blood vessel:	n/a
4	chr22:22315643-22315693	AG10803	skin:	n/a
5	chr22:22312957-22313007	NHBE	bronchial:	n/a
6	chr22:22337178-22337228	HRE	kidney:	n/a
7	chr22:22315643-22315693	HUVEC	blood vessel:	n/a
8	chr22:22315643-22315693	AG10803	skin:	n/a
9	chr22:22337468-22337518	HMEC	breast:	n/a
10	chr22:22337322-22337372	PrEC	prostate:	n/a
11	chr22:22471930-22471980	GM12878	blood:	n/a
12	chr22:22471216-22471266	BJ	skin:	n/a
13	chr22:22339538-22339588	AoSMC	blood vessel:	n/a
14	chr22:22315643-22315693	HRPEpiC	eye:	n/a
15	chr22:22307395-22307445	LNCaP	prostate:	n/a
16	chr22:22574844-22574894	AG09319	gingival:	n/a
17	chr22:22307371-22307421	SKMC	muscle:	n/a
18	chr22:22472743-22472793	IMR90	lung:	fetal
19	chr22:22307378-22307428	T-47D	breast:	n/a
20	chr22:22306651-22306701	SK-N-MC	brain:	n/a
21	chr22:22336396-22336446	GM12891	blood:	n/a
22	chr22:22337327-22337377	AG10803	skin:	n/a
23	chr22:22577105-22577155	HCM	heart:	n/a
24	chr22:22337468-22337518	U87	brain:	n/a
25	chr22:22337369-22337419	HRE	kidney:	n/a
26	chr22:22473142-22473192	T-47D	breast:	n/a
27	chr22:22339538-22339588	HUVEC	blood vessel:	n/a
28	chr22:22380839-22380889	NHDF-neo	bronchial:	n/a
29	chr22:22337141-22337191	NB4	blood:	n/a
30	chr22:22337327-22337377	HCT-116	colon:	n/a
31	chr22:22339538-22339588	HAEpiC	amniotic membrane:	n/a
32	chr22:22578641-22578691	Hepatocyte	liver:	n/a
33	chr22:22337141-22337191	HCM	heart:	n/a
34	chr22:22337327-22337377	T-47D	breast:	n/a
35	chr22:22307482-22307532	U87	brain:	n/a
36	chr22:22312957-22313007	Hepatocyte	liver:	n/a
37	chr22:22315643-22315693	HCF	heart:	n/a
38	chr22:22472384-22472434	NB4	blood:	n/a
39	chr22:22465502-22465552	GM12878	blood:	n/a
40	chr22:22337369-22337419	AoSMC	blood vessel:	n/a
41	chr22:22336396-22336446	HMEC	breast:	n/a
42	chr22:22337153-22337203	RPTEC	kidney:	n/a
43	chr22:22472743-22472793	HMEC	breast:	n/a
44	chr22:22337141-22337191	Hepatocyte	liver:	n/a
45	chr22:22307197-22307247	ovcar-3	ovarian:	n/a
46	chr22:22380100-22380150	HCT-116	colon:	n/a
47	chr22:22337369-22337419	NHDF-neo	bronchial:	n/a
48	chr22:22306263-22306313	NHDF-neo	bronchial:	n/a
49	chr22:22336396-22336446	SK-N-MC	brain:	n/a
50	chr22:22577105-22577155	HNPCEpiC	eye:	n/a

(count:453 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Distal block	Cell Line	Cell type
1	chr22:22328328..22330386-chr22:22400402..22403039,2	K562	blood:
2	chr22:22464501..22467020-chr22:22512614..22514825,2	K562	blood:
3	chr22:22397472..22399185-chr22:22416544..22418794,2	K562	blood:
4	chr22:22414575..22415823-chr22:22560028..22561379,6	K562	blood:
5	chr22:22331326..22332844-chr22:22424679..22426503,2	K562	blood:
6	chr22:22301565..22302189-chr22:22326385..22327307,2	K562	blood:
7	chr22:22384767..22385571-chr22:22498960..22499557,2	MCF-7	breast:
8	chr22:22015676..22017978-chr22:22303779..22306015,2	K562	blood:
9	chr22:22324947..22326968-chr22:22327343..22330082,3	MCF-7	breast:
10	chr22:22307132..22307792-chr22:22336951..22337632,2	K562	blood:
11	chr22:22464501..22467020-chr22:22512614..22514825,2	K562	blood:
12	chr22:22326670..22328362-chr22:22335678..22338446,2	MCF-7	breast:
13	chr22:22338264..22343041-chr22:22376495..22378677,4	K562	blood:
14	chr22:22524321..22526485-chr22:22538320..22540568,3	K562	blood:
15	chr22:22432550..22434404-chr22:22445291..22446855,2	K562	blood:
16	chr22:22292166..22293064-chr22:22414699..22415634,3	K562	blood:
17	chr22:22510925..22511680-chr22:22560348..22561277,3	MCF-7	breast:
18	chr22:22377194..22378889-chr22:22380895..22382410,2	K562	blood:
19	chr22:22412399..22413100-chr22:22428586..22429560,2	K562	blood:
20	chr22:22425294..22427044-chr22:22431325..22433730,2	MCF-7	breast:
21	chr22:22219525..22222944-chr22:22304293..22307333,4	K562	blood:
22	chr22:22292535..22295844-chr22:22301877..22304014,4	MCF-7	breast:
23	chr22:22303827..22304626-chr22:22326823..22327382,2	K562	blood:
24	chr22:22448241..22450631-chr22:22500901..22502964,2	K562	blood:
25	chr22:22510826..22511744-chr22:22590149..22590687,3	K562	blood:
26	chr22:22495254..22499541-chr22:22519635..22523515,4	K562	blood:
27	chr22:22414798..22417040-chr22:22426863..22431113,3	K562	blood:
28	chr22:22292568..22294613-chr22:22327761..22330729,3	K562	blood:
29	chr22:22460350..22462658-chr22:22476870..22479125,2	K562	blood:
30	chr22:19108558..19111368-chr22:22312314..22314926,2	K562	blood:
31	chr22:22336587..22339312-chr22:22424979..22428320,4	K562	blood:
32	chr22:22393227..22395317-chr22:22449346..22451230,2	K562	blood:
33	chr22:22400946..22402797-chr22:22413673..22416089,2	MCF-7	breast:
34	chr22:22414930..22415642-chr22:22457135..22457820,2	K562	blood:
35	chr22:22336633..22338928-chr22:22391832..22394169,2	MCF-7	breast:
36	chr22:22326562..22327268-chr22:22335793..22337003,3	K562	blood:
37	chr22:22503861..22506116-chr22:22521310..22523381,2	K562	blood:
38	chr22:22488951..22490543-chr22:22494875..22497145,2	K562	blood:
39	chr22:22414423..22416902-chr22:22432875..22435026,2	MCF-7	breast:
40	chr22:22384606..22385551-chr22:22560385..22561491,3	K562	blood:
41	chr22:22306982..22308543-chr22:22325097..22327409,2	MCF-7	breast:
42	chr22:22054580..22057543-chr22:22499227..22501364,2	K562	blood:
43	chr22:22337017..22338693-chr22:22396578..22398430,2	K562	blood:
44	chr22:22342384..22345359-chr22:22398039..22400395,2	K562	blood:
45	chr22:22465023..22465826-chr22:22499258..22499940,2	MCF-7	breast:
46	chr22:22561298..22563780-chr22:22564215..22567147,2	MCF-7	breast:
47	chr22:22507386..22515452-chr22:22515920..22525466,16	K562	blood:
48	chr22:22415042..22415605-chr22:22510840..22511772,2	K562	blood:
49	chr22:22510820..22511384-chr22:22676029..22677015,2	K562	blood:
50	chr22:22454454..22455249-chr22:22511032..22511659,2	MCF-7	breast:

(count:39 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VPREB1-2	chr22:22393836-22394463	ENSG00000225070.1
2	lnc-VPREB1-25	chr22:22380648-22380991	NONHSAT083731
3	lnc-TOP3B-1	chr22:22380620-22380720	NONHSAT083730
4	lnc-VPREB1-19	chr22:22424636-22424681	NONHSAT083739
5	lnc-VPREB1-20	chr22:22415658-22415950	NONHSAT083738
6	lnc-VPREB1-25	chr22:22380474-22380519	NONHSAT083731
7	lnc-VPREB1-13	chr22:22478465-22478576	NONHSAT083746
8	lnc-VPREB1-20	chr22:22415489-22415536	NONHSAT083738
9	lnc-VPREB1-19	chr22:22424805-22425118	NONHSAT083739
10	lnc-VPREB1-17	chr22:22434336-22434673	NONHSAT083741
11	lnc-VPREB1-18	chr22:22429777-22430077	NONHSAT083740
12	lnc-VPREB1-15	chr22:22458835-22459267	NONHSAT083743
13	lnc-VPREB1-21	chr22:22412845-22413304	NONHSAT083737
14	lnc-VPREB1-13	chr22:22509975-22510104	NONHSAT083747
15	lnc-VPREB1-23	chr22:22393042-22393087	NONHSAT083734
16	lnc-VPREB1-23	chr22:22393197-22393525	NONHSAT083734
17	lnc-VPREB1-6	chr22:22536972-22537275	NONHSAT083755
18	lnc-VPREB1-17	chr22:22434180-22434225	NONHSAT083741
19	lnc-VPREB1-11	chr22:22511775-22512024	NONHSAT083748
20	lnc-VPREB1-3	chr22:22574039-22574081	NONHSAT083760
21	lnc-VPREB1-8	chr22:22533618-22533867	NONHSAT083754
22	lnc-VPREB1-13	chr22:22510185-22510335	NONHSAT083747
23	lnc-VPREB1-9	chr22:22522682-22523027	NONHSAT083752
24	lnc-TOP3B-1	chr22:22390346-22390668	NONHSAT083730
25	lnc-VPREB1-16	chr22:22440972-22441017	NONHSAT083742
26	lnc-VPREB1-2	chr22:22390743-22390893	ENSG00000225070.1
27	lnc-VPREB1-24	chr22:22387143-22387194	NONHSAT083732
28	lnc-VPREB1-3	chr22:22574202-22574525	NONHSAT083760
29	lnc-VPREB1-4	chr22:22553115-22553411	NONHSAT083759
30	lnc-VPREB1-15	chr22:22457629-22458457	NONHSAT083743
31	lnc-VPREB1-13	chr22:22510010-22510452	NONHSAT083746
32	lnc-VPREB1-5	chr22:22540331-22541009	NONHSAT083756
33	lnc-TOP3B-4	chr22:22525369-22525942	NONHSAT083753
34	lnc-TOP3B-1	chr22:22380099-22380527	NONHSAT083730
35	lnc-VPREB1-24	chr22:22387300-22387592	NONHSAT083732
36	lnc-VPREB1-4	chr22:22552960-22553004	NONHSAT083759
37	lnc-VPREB1-10	chr22:22516777-22517099	NONHSAT083749
38	lnc-VPREB1-22	chr22:22398016-22398340	NONHSAT083735
39	lnc-VPREB1-16	chr22:22441127-22441521	NONHSAT083742

No data

Variant related genes	Relation type
IGLVIV-64	TF binding region
BMP6P1	TF binding region
ENSG00000225741	TF binding region
IGLV11-55	TF binding region
IGLV10-67	TF binding region
PPM1F	TF binding region
IGLVI-70	TF binding region
IGLVIV-59	TF binding region
IGLVIV-53	TF binding region
IGLVIV-65	TF binding region
IGLVI-63	TF binding region
IGLV4-60	TF binding region
IGLVV-58	TF binding region
IGLVI-56	TF binding region
TOP3B	TF binding region
IGLV10-54	TF binding region
ENSG00000225070	TF binding region
ABHD17AP5	TF binding region
IGLV4-69	TF binding region
PRAMENP	TF binding region
ENSG00000233720	TF binding region
ENSG00000236118	TF binding region
IGLV6-57	TF binding region
TOP3BP1	TF binding region
IGLV8-61	TF binding region
IGLV1-62	TF binding region
ENSG00000228161	TF binding region
IGLVIV-66-1	TF binding region
ENSG00000227710	TF binding region
ENSG00000249333	TF binding region
IGLVV-66	TF binding region
SOCS2P2	TF binding region
IGLVI-68	TF binding region
IGLVIV-64	CpG island
BMP6P1	CpG island
ENSG00000225741	CpG island
IGLV11-55	CpG island
IGLV10-67	CpG island
PPM1F	CpG island
IGLVI-70	CpG island
IGLVIV-59	CpG island
IGLVIV-53	CpG island
IGLVIV-65	CpG island
IGLVI-63	CpG island
IGLV4-60	CpG island
IGLVV-58	CpG island
IGLVI-56	CpG island
TOP3B	CpG island
IGLV10-54	CpG island
ENSG00000225070	CpG island
ABHD17AP5	CpG island
IGLV4-69	CpG island
PRAMENP	CpG island
ENSG00000233720	CpG island
ENSG00000236118	CpG island
IGLV6-57	CpG island
TOP3BP1	CpG island
IGLV8-61	CpG island
IGLV1-62	CpG island
ENSG00000228161	CpG island
IGLVIV-66-1	CpG island
ENSG00000227710	CpG island
ENSG00000249333	CpG island
IGLVV-66	CpG island
SOCS2P2	CpG island
IGLVI-68	CpG island
ENSG00000224465	chromatin interactions
ENSG00000197549	chromatin interactions
ENSG00000205542	chromatin interactions
ENSG00000220891	chromatin interactions
ENSG00000211642	chromatin interactions
ENSG00000253874	chromatin interactions
ENSG00000128228	chromatin interactions
ENSG00000236323	chromatin interactions
ENSG00000236118	chromatin interactions
ENSG00000254355	chromatin interactions
ENSG00000228161	chromatin interactions
ENSG00000225070	chromatin interactions
ENSG00000211640	chromatin interactions
ENSG00000185651	chromatin interactions
ENSG00000254075	chromatin interactions
ENSG00000182502	chromatin interactions
ENSG00000253239	chromatin interactions
ENSG00000227710	chromatin interactions
ENSG00000254308	chromatin interactions
ENSG00000253794	chromatin interactions
ENSG00000253637	chromatin interactions
ENSG00000225741	chromatin interactions
ENSG00000211641	chromatin interactions
ENSG00000253126	chromatin interactions
ENSG00000223461	chromatin interactions
ENSG00000211638	chromatin interactions
ENSG00000253935	chromatin interactions
ENSG00000228050	chromatin interactions
ENSG00000111206	chromatin interactions
ENSG00000233720	chromatin interactions
ENSG00000249333	chromatin interactions
ENSG00000100030	chromatin interactions
ENSG00000100038	chromatin interactions
ENSG00000254161	chromatin interactions
ENSG00000224086	chromatin interactions
ENSG00000232603	chromatin interactions
ENSG00000185686	chromatin interactions
ENSG00000253242	chromatin interactions
ENSG00000100034	chromatin interactions
ENSG00000253823	chromatin interactions
ENSG00000253752	chromatin interactions
ENSG00000211653	chromatin interactions
ENSG00000223350	chromatin interactions
ENSG00000100027	chromatin interactions
ENSG00000070413	chromatin interactions
ENSG00000234726	chromatin interactions
ENSG00000100023	chromatin interactions
ENSG00000211644	chromatin interactions
ENSG00000161179	chromatin interactions
ENSG00000212102	chromatin interactions
ENSG00000272954	chromatin interactions
ENSG00000211639	chromatin interactions
ENSG00000211648	chromatin interactions
ENSG00000211637	chromatin interactions

Extended variants
information (count: 12285 )
Associated
traits (count: 223 )

Variant overlapped rSNPs/rCNVs (count:12285 , 50 per page) page: 1 2 3 4 5 6 7 ... 246

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570956447	chr22:22303462-22303463	Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs538130680	chr22:22303519-22303520	Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs12152192	chr22:22303521-22303522	Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs191574911	chr22:22303568-22303569	Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs114162054	chr22:22303587-22303588	Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs545159886	chr22:22303635-22303636	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs569918163	chr22:22303640-22303641	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs535611902	chr22:22303641-22303642	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs555655709	chr22:22303710-22303711	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs182660686	chr22:22303723-22303724	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs565387661	chr22:22303734-22303735	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs111859575	chr22:22303739-22303740	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs146450505	chr22:22303759-22303760	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs533112614	chr22:22303772-22303773	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs377558838	chr22:22303786-22303787	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs550020601	chr22:22303804-22303805	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs185317319	chr22:22303820-22303821	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs543157917	chr22:22303883-22303884	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs369277920	chr22:22303904-22303905	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs563357491	chr22:22303930-22303931	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs573899080	chr22:22304027-22304028	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs542818729	chr22:22304049-22304050	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs140951501	chr22:22304050-22304051	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs189678482	chr22:22304105-22304106	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs117218983	chr22:22304127-22304128	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs11913958	chr22:22304138-22304139	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs533311120	chr22:22304153-22304154	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs145083503	chr22:22304198-22304199	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs569780608	chr22:22304237-22304238	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs142326310	chr22:22304241-22304242	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs370188509	chr22:22304263-22304264	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs535674452	chr22:22304271-22304272	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs138968618	chr22:22304280-22304281	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs566072158	chr22:22304299-22304300	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs535005208	chr22:22304356-22304357	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs558384787	chr22:22304364-22304365	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs1123393	chr22:22304458-22304459	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs537017238	chr22:22304462-22304463	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs556804471	chr22:22304519-22304520	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs555523188	chr22:22304576-22304577	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs573760881	chr22:22304591-22304592	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs143828973	chr22:22304616-22304617	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs372560380	chr22:22304650-22304651	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs573220260	chr22:22304655-22304656	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs34899223	chr22:22304761-22304762	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs75843287	chr22:22304772-22304773	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs183452546	chr22:22304773-22304774	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs565145993	chr22:22304805-22304806	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs188950155	chr22:22304828-22304829	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs565536536	chr22:22304836-22304837	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:223)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Emanuel syndrome	21549014	CNVD
Digeorge syndrome	22283845	CNVD
Schizophrenia	17504246	CNVD
Digeorge syndrome	18033723	CNVD
22q11 deletion syndrome	17034021	CNVD
22q11 deletion syndrome	22511897	CNVD
22q11 deletion syndrome	16829213	CNVD
Autism	22067053	CNVD
Autism	19218893	CNVD
Biliary cancer	22067053	CNVD
Congenital heart defect	21390462	CNVD
Digeorge syndrome	16617304	CNVD
Emanuel syndrome	18184694	CNVD
Non-syndromic sensorineural hearing loss	18184694	CNVD
Obsessive-compulsive disorder	22067053	CNVD
Psychosis	22067053	CNVD
Schizophrenia	19415332	CNVD
Schizophrenia	20587603	CNVD
Shprintzen syndrome	19443537	CNVD
absent pulmonary valve syndrome	16795129	CNVD
language delay	22067053	CNVD
periventricular nodular heterotopia	20648244	CNVD
renal disease	17924346	CNVD
Schizophrenia	20433910	CNVD
22q11 deletion syndrome	17028864	CNVD
Schizophrenia	16969581	CNVD
Non-syndromic sensorineural hearing loss	17135275	CNVD
velo-cardio-facial syndrome	17135275	CNVD
Digeorge syndrome	18787571	CNVD
Autism	18925931	CNVD
Non-small cell lung cancer	21829676	CNVD
22q11.2 microdeletion syndrome	21547621	CNVD
Congenital heart defect	21308838	CNVD
Digeorge syndrome	16512914	CNVD
Digeorge syndrome	20954168	CNVD
Nuchal translucency	21837766	CNVD
Right aortic arch in the fetus	17066500	CNVD
Shprintzen syndrome	17117043	CNVD
Tetralogy of fallot	17405110	CNVD
Velocardiofacial syndrome	20140301	CNVD
Velocardiofacial syndrome	16512914	CNVD
bone mass and metabolism	20516202	CNVD
choanal atresia	18209138	CNVD
extracardiac malformations	17086578	CNVD
fetal heart defects	21308838	CNVD
parathyroid gland dysfunction	16793949	CNVD
prenatal diagnosis	20453657	CNVD
velopharyngeal insufficiency	19620585	CNVD
Prader-willi syndrome	20942916	CNVD
22q11 deletion syndrome	17653112	CNVD
Chronic myelomonocytic leukemia	16760666	CNVD
Non-syndromic sensorineural hearing loss	16829213	CNVD
Non-syndromic sensorineural hearing loss	16760666	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Cat eye syndrome	21549014	CNVD
Digeorge syndrome	21549014	CNVD
22q11.2 microdeletion syndrome	22051516	CNVD
22q11.2 microdeletion syndrome	18483005	CNVD
22q11.2 microdeletion syndrome	19565140	CNVD
22q11.2 microdeletion syndrome	20396437	CNVD
22q11.2 microdeletion syndrome	21390462	CNVD
22q11.2 microdeletion syndrome	21573985	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Congenital heart defect	21257016	CNVD
Developmental delay	18414209	CNVD
DiGeorge-Velo cardiofacial	19284877	CNVD
Epilepsy	20970697	CNVD
Heart disease	20551144	CNVD
Hughes'' syndrome	16595601	CNVD
Mental retardation	18414209	CNVD
Okamoto syndrome	19046188	CNVD
Primary immunodeficiency	22566803	CNVD
Schizophrenia	20877625	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Tetralogy of Fallot	22912587	CNVD
Velocardiofacial syndrome	17556857	CNVD
Velocardiofacial syndrome	20206275	CNVD
Velocardiofacial syndrome	20970697	CNVD
delayed speech development	21274400	CNVD
velo-cardio-facial syndrome	16511839	CNVD
velo-cardio-facial syndrome	21763005	CNVD
22q11.2 microdeletion syndrome	18799940	CNVD
Digeorge syndrome	20877625	CNVD
22q11.2 microdeletion syndrome	18923514	CNVD
Congenital heart defect	22185286	CNVD
DiGeorge-Velo cardiofacial	16773131	CNVD
Digeorge syndrome	20186050	CNVD
velo-cardio-facial conotruncal-face syndrome	20186050	CNVD
22q11.2 microdeletion syndrome	22116936	CNVD
Disorders of sex development	22290220	CNVD
22q11.2 duplication syndrome	18923514	CNVD
Autism	22095694	CNVD
Mental retardation	19951919	CNVD
Honadal dysgenesis	21048976	CNVD
Mental retardation	16773131	CNVD
22q11.2 microdeletion syndrome	22395003	CNVD
22q11.2 microdeletion syndrome	18691436	CNVD
22q11.2 microdeletion syndrome	18053182	CNVD
22q11.2 microdeletion syndrome	18324686	CNVD
22q11.2 microdeletion syndrome	20074913	CNVD
Congenital heart defect	20802965	CNVD
Congenital heart defect	21134246	CNVD
DiGeorge syndrome	19040613	CNVD
DiGeorge-Velo cardiofacial	18179902	CNVD
Digeorge syndrome	18172682	CNVD
Digeorge syndrome	22470819	CNVD
Digeorge syndrome	21364285	CNVD
Neuroendocrine carcinoma	22470819	CNVD
Non-syndromic sensorineural hearing loss	20069674	CNVD
Smith-Magenis syndrome	18301319	CNVD
Tetralogy of fallot	19144126	CNVD
Velo-cardio-facial syndrome	21364285	CNVD
Velocardiofacial syndrome	18788013	CNVD
cardiac malformation	20573211	CNVD
cardiac malformation	18172682	CNVD
velo-cardio-facial syndrome	18636631	CNVD
Schizophrenia	21822266	CNVD
synaptic plasticity	21368174	CNVD
Schizophrenia	18043741	CNVD
sporadic birth defects	19047251	CNVD
Autism	19046189	CNVD
DiGeorge-Velo cardiofacial	19047251	CNVD
Hypernasal speech	21968682	CNVD
Mental retardation	17339581	CNVD
diverse phenotype	16760730	CNVD
Mental retardation	20152051	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	21251322	CNVD
DiGeorge-Velo cardiofacial	17597781	CNVD
Digeorge syndrome	17576883	CNVD
Schizophrenia	18806272	CNVD
Schizophrenia	18990708	CNVD
Velocardiofacial syndrome	17576883	CNVD
Schizophrenia	20075378	CNVD
Neurodevelopmental disorder	17015230	CNVD
Neuropsychiatric disorder	20069037	CNVD
Williams-beuren syndrome	18553513	CNVD
Emphysema	19352772	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Disease	21346257	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Developmental delay	21147756	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Asthma	21956041	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	21128281	CNVD
Systemic lupus erythematosus	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
22q11.23 microdeletion syndrome	19193630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic myeloid leukemia	21384125	CNVD
Autism	20841430	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Malignant rhabdoid rumor	20824076	CNVD
Glioma	20126413	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD

Chromatin state (count:3203 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22293000-22306200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:22293000-22306400	Weak transcription	Small Intestine	intestine
3	chr22:22293200-22305400	Genic enhancers	Fetal Muscle Trunk	muscle
4	chr22:22293200-22306000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr22:22297200-22306000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr22:22297200-22306000	Weak transcription	GM12878-XiMat	blood
7	chr22:22297800-22304400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr22:22299600-22303800	Weak transcription	Primary B cells from cord blood	blood
9	chr22:22299600-22306000	Weak transcription	Hela-S3	cervix
10	chr22:22299800-22306000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr22:22300000-22305200	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr22:22300200-22304400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr22:22300200-22304800	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr22:22300200-22305600	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr22:22300200-22306000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr22:22300200-22306000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr22:22300200-22306000	Weak transcription	HepG2	liver
18	chr22:22300200-22306200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr22:22300200-22306400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr22:22300400-22303600	Enhancers	Adipose Nuclei	Adipose
21	chr22:22300400-22304400	Genic enhancers	Fetal Stomach	stomach
22	chr22:22300400-22304600	Weak transcription	Primary B cells from peripheral blood	blood
23	chr22:22300400-22305400	Weak transcription	Liver	Liver
24	chr22:22300400-22306000	Weak transcription	Colonic Mucosa	Colon
25	chr22:22300400-22306000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr22:22300400-22306200	Weak transcription	Aorta	Aorta
27	chr22:22300400-22306400	Weak transcription	Thymus	Thymus
28	chr22:22300600-22304000	Enhancers	Left Ventricle	heart
29	chr22:22300600-22304200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr22:22300600-22304400	Enhancers	Placenta Amnion	Placenta Amnion
31	chr22:22300600-22304400	Genic enhancers	Right Atrium	heart
32	chr22:22300600-22305600	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr22:22300600-22306000	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr22:22300600-22306000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr22:22300600-22306000	Weak transcription	Dnd41	blood
36	chr22:22300800-22303600	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr22:22300800-22304200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr22:22300800-22305400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr22:22300800-22305400	Enhancers	HUVEC	blood vessel
40	chr22:22300800-22306000	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr22:22300800-22306000	Weak transcription	Primary T cells from cord blood	blood
42	chr22:22300800-22306000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr22:22300800-22306000	Weak transcription	Fetal Brain Female	brain
44	chr22:22300800-22306000	Weak transcription	Ovary	ovary
45	chr22:22300800-22306000	Weak transcription	Pancreas	Pancrea
46	chr22:22300800-22306200	Weak transcription	Gastric	stomach
47	chr22:22301000-22303600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr22:22301000-22304200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr22:22301000-22306000	Enhancers	Primary hematopoietic stem cells	blood
50	chr22:22301000-22306000	Weak transcription	Fetal Intestine Large	intestine

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