Variant report

Variant	nsv1058463
Chromosome Location	chr22:22297647-22468619
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5366)
CpG islands
(count:1954)
Chromatin interactive
region (count:323)
LncRNA
region (count:26)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5366 , 50 per page) page: 1 2 3 4 5 6 7 ... 108

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:22417403-22417736	K562	blood:	n/a	n/a
2	ARID3A	chr22:22339268-22339597	K562	blood:	n/a	n/a
3	ARID3A	chr22:22457409-22457646	K562	blood:	n/a	n/a
4	ARID3A	chr22:22465810-22466041	K562	blood:	n/a	n/a
5	ARID3A	chr22:22415118-22415318	HepG2	liver:	n/a	n/a
6	ARID3A	chr22:22378057-22378223	K562	blood:	n/a	n/a
7	ARID3A	chr22:22463869-22465524	K562	blood:	n/a	n/a
8	ARID3A	chr22:22302093-22302226	HepG2	liver:	n/a	n/a
9	ARID3A	chr22:22307263-22307486	K562	blood:	n/a	n/a
10	ARID3A	chr22:22384968-22385236	K562	blood:	n/a	n/a
11	ARID3A	chr22:22302000-22302519	K562	blood:	n/a	n/a
12	ARID3A	chr22:22337105-22337394	HepG2	liver:	n/a	n/a
13	ARID3A	chr22:22415907-22416441	HepG2	liver:	n/a	n/a
14	ARID3A	chr22:22392224-22392534	K562	blood:	n/a	n/a
15	ARID3A	chr22:22415037-22415189	K562	blood:	n/a	n/a
16	ARID3A	chr22:22306577-22306630	HepG2	liver:	n/a	n/a
17	ARID3A	chr22:22355812-22356985	K562	blood:	n/a	n/a
18	ARID3A	chr22:22307655-22307768	HepG2	liver:	n/a	n/a
19	ARID3A	chr22:22337039-22337516	K562	blood:	n/a	n/a
20	ARID3A	chr22:22442521-22442964	HepG2	liver:	n/a	n/a
21	ARID3A	chr22:22468023-22468176	K562	blood:	n/a	n/a
22	ATF1	chr22:22356266-22356718	K562	blood:	n/a	n/a
23	ATF1	chr22:22392194-22392539	K562	blood:	n/a	n/a
24	ATF1	chr22:22367936-22368085	K562	blood:	n/a	n/a
25	ATF1	chr22:22369120-22369190	K562	blood:	n/a	n/a
26	ATF1	chr22:22443522-22443568	K562	blood:	n/a	n/a
27	ATF1	chr22:22417546-22417837	K562	blood:	n/a	n/a
28	ATF1	chr22:22372503-22372604	K562	blood:	n/a	n/a
29	ATF1	chr22:22378052-22378257	K562	blood:	n/a	n/a
30	ATF1	chr22:22424538-22424979	K562	blood:	n/a	n/a
31	ATF1	chr22:22387947-22388240	K562	blood:	n/a	n/a
32	ATF1	chr22:22416087-22416336	K562	blood:	n/a	n/a
33	ATF1	chr22:22360525-22360873	K562	blood:	n/a	n/a
34	ATF2	chr22:22377249-22377905	GM12878	blood:	n/a	n/a
35	ATF2	chr22:22337046-22337443	GM12878	blood:	n/a	n/a
36	ATF2	chr22:22336963-22337512	GM12878	blood:	n/a	n/a
37	ATF2	chr22:22465320-22465759	GM12878	blood:	n/a	n/a
38	ATF2	chr22:22377217-22377748	GM12878	blood:	n/a	n/a
39	ATF2	chr22:22379713-22380215	GM12878	blood:	n/a	n/a
40	ATF2	chr22:22380485-22381465	GM12878	blood:	n/a	n/a
41	ATF2	chr22:22379423-22381676	GM12878	blood:	n/a	n/a
42	ATF2	chr22:22337013-22337406	H1-hESC	embryonic stem cell:	n/a	n/a
43	ATF2	chr22:22465784-22466187	GM12878	blood:	n/a	n/a
44	ATF2	chr22:22384775-22385741	GM12878	blood:	n/a	n/a
45	ATF2	chr22:22465462-22465708	GM12878	blood:	n/a	n/a
46	ATF2	chr22:22384792-22385975	GM12878	blood:	n/a	n/a
47	ATF3	chr22:22414881-22415814	K562	blood:	n/a	n/a
48	ATF3	chr22:22417489-22417881	K562	blood:	n/a	n/a
49	ATF3	chr22:22337022-22337431	A549	lung:	n/a	n/a
50	ATF3	chr22:22328320-22329148	K562	blood:	n/a	n/a

(count:1954 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:22334553-22334603	MCF10A-Er-Src	breast:	n/a
2	chr22:22380100-22380150	RPTEC	kidney:	n/a
3	chr22:22334553-22334603	MCF10A-Er-Src	breast:	n/a
4	chr22:22380100-22380150	RPTEC	kidney:	n/a
5	chr22:22380839-22380889	HL-60	blood:	n/a
6	chr22:22306263-22306313	Hepatocyte	liver:	n/a
7	chr22:22307197-22307247	BE2_C	brain:	n/a
8	chr22:22307378-22307428	NB4	blood:	n/a
9	chr22:22337327-22337377	HCF	heart:	n/a
10	chr22:22334553-22334603	LNCaP	prostate:	n/a
11	chr22:22337178-22337228	K562	blood:	n/a
12	chr22:22334553-22334603	NHBE	bronchial:	n/a
13	chr22:22307573-22307623	HRCEpiC	kidney:	n/a
14	chr22:22336396-22336446	HepG2	liver:	n/a
15	chr22:22380100-22380150	NT2-D1	testis:	n/a
16	chr22:22307684-22307734	AoSMC	blood vessel:	n/a
17	chr22:22337322-22337372	AG09309	skin:	n/a
18	chr22:22307070-22307120	BE2_C	brain:	n/a
19	chr22:22315643-22315693	HIPEpiC	eye:	n/a
20	chr22:22337141-22337191	AG10803	skin:	n/a
21	chr22:22337153-22337203	AG09309	skin:	n/a
22	chr22:22307482-22307532	HRCEpiC	kidney:	n/a
23	chr22:22306651-22306701	Hepatocyte	liver:	n/a
24	chr22:22307684-22307734	Hepatocyte	liver:	n/a
25	chr22:22380100-22380150	HCT-116	colon:	n/a
26	chr22:22337369-22337419	GM19239	blood:	n/a
27	chr22:22311698-22311748	Hepatocyte	liver:	n/a
28	chr22:22380839-22380889	ECC-1	luminal epithelium:	n/a
29	chr22:22465502-22465552	SK-N-SH_RA	brain:	n/a
30	chr22:22307070-22307120	T-47D	breast:	n/a
31	chr22:22337369-22337419	HEK293	kidney:	embryo
32	chr22:22337327-22337377	NH-A	brain:	n/a
33	chr22:22337327-22337377	HCPEpiC	choroid plexus:	n/a
34	chr22:22334553-22334603	Caco-2	colon:	n/a
35	chr22:22337369-22337419	NHDF-neo	bronchial:	n/a
36	chr22:22306651-22306701	HUVEC	blood vessel:	n/a
37	chr22:22380839-22380889	AoSMC	blood vessel:	n/a
38	chr22:22307371-22307421	HRPEpiC	eye:	n/a
39	chr22:22307070-22307120	H1-hESC	embryonic stem cell:	embryo
40	chr22:22380839-22380889	BJ	skin:	n/a
41	chr22:22306651-22306701	GM12891	blood:	n/a
42	chr22:22315643-22315693	RPTEC	kidney:	n/a
43	chr22:22312957-22313007	HRCEpiC	kidney:	n/a
44	chr22:22302600-22302650	HPAEpiC	pulmonary alveolar:	n/a
45	chr22:22337332-22337382	ProgFib	skin:	n/a
46	chr22:22336396-22336446	ECC-1	luminal epithelium:	n/a
47	chr22:22306263-22306313	AG09309	skin:	n/a
48	chr22:22337327-22337377	NT2-D1	testis:	n/a
49	chr22:22302600-22302650	HAEpiC	amniotic membrane:	n/a
50	chr22:22337332-22337382	HCPEpiC	choroid plexus:	n/a

(count:323 , 50 per page) page: 1 2 3 4 5 6 7

No.	Distal block	Cell Line	Cell type
1	chr22:22088520..22091543-chr22:22318194..22320704,3	K562	blood:
2	chr22:22053698..22055287-chr22:22332085..22334698,2	K562	blood:
3	chr22:22055923..22058133-chr22:22298564..22300939,2	K562	blood:
4	chr22:22301568..22303769-chr22:22443867..22445458,2	K562	blood:
5	chr22:22361366..22363975-chr22:22363999..22367309,3	K562	blood:
6	chr22:22129393..22130914-chr22:22299587..22301892,2	K562	blood:
7	chr22:22326562..22327268-chr22:22335793..22337003,3	K562	blood:
8	chr22:22430901..22433826-chr22:22481393..22484244,2	K562	blood:
9	chr22:22314291..22316189-chr22:22517948..22520823,2	K562	blood:
10	chr22:22386520..22389011-chr22:22412787..22415149,2	K562	blood:
11	chr22:22361140..22363969-chr22:22367948..22371113,3	K562	blood:
12	chr22:22292535..22295844-chr22:22301877..22304014,4	MCF-7	breast:
13	chr22:22018538..22022494-chr22:22299554..22303122,4	K562	blood:
14	chr22:22320427..22322900-chr22:22335647..22337789,2	MCF-7	breast:
15	chr22:22337436..22340335-chr22:22341477..22343110,2	MCF-7	breast:
16	chr22:22015152..22017176-chr22:22303779..22306519,2	K562	blood:
17	chr22:22366731..22370036-chr22:22370345..22377647,6	K562	blood:
18	chr22:22315227..22317746-chr22:22319787..22322237,2	MCF-7	breast:
19	chr22:22448241..22450631-chr22:22500901..22502964,2	K562	blood:
20	chr22:22378696..22381473-chr22:22568319..22571288,2	K562	blood:
21	chr22:22326614..22327292-chr22:22465022..22465865,2	K562	blood:
22	chr22:22375857..22378429-chr22:22393243..22394751,2	MCF-7	breast:
23	chr22:22425294..22427044-chr22:22431325..22433730,2	MCF-7	breast:
24	chr22:22326670..22328362-chr22:22335678..22338446,2	MCF-7	breast:
25	chr22:22415106..22415910-chr22:22549461..22550391,2	K562	blood:
26	chr22:22303827..22304626-chr22:22326823..22327382,2	K562	blood:
27	chr22:22129393..22132158-chr22:22299862..22301892,2	K562	blood:
28	chr22:22375765..22377818-chr22:22402910..22404816,2	K562	blood:
29	chr22:22465437..22465959-chr22:22560354..22561300,2	K562	blood:
30	chr22:22065172..22070463-chr22:22299725..22303847,7	K562	blood:
31	chr22:22066903..22068087-chr22:22326739..22327340,4	K562	blood:
32	chr22:22064919..22065472-chr22:22307227..22307987,2	K562	blood:
33	chr22:22439296..22440911-chr22:22495820..22498660,2	K562	blood:
34	chr22:22336633..22338928-chr22:22391832..22394169,2	MCF-7	breast:
35	chr22:22397472..22399185-chr22:22416544..22418794,2	K562	blood:
36	chr22:22397553..22399523-chr22:22411179..22413939,2	K562	blood:
37	chr22:22399565..22402444-chr22:22464431..22466617,2	K562	blood:
38	chr22:22299166..22301404-chr22:22302950..22305296,2	MCF-7	breast:
39	chr22:22390102..22392769-chr22:22465098..22467700,2	K562	blood:
40	chr22:22370614..22372486-chr22:22373983..22376644,3	K562	blood:
41	chr22:22362155..22364239-chr22:22419402..22421646,2	K562	blood:
42	chr22:22018767..22021764-chr22:22305458..22307396,2	K562	blood:
43	chr22:22429953..22432769-chr22:22463306..22465226,2	K562	blood:
44	chr22:22399536..22401946-chr22:22423237..22426311,3	K562	blood:
45	chr22:22459115..22461639-chr22:22463401..22465734,3	K562	blood:
46	chr22:22463195..22465288-chr22:22490450..22492354,2	K562	blood:
47	chr22:22336863..22339918-chr22:22415321..22421007,6	K562	blood:
48	chr22:22442921..22444878-chr22:22445131..22446988,2	K562	blood:
49	chr22:22459115..22461639-chr22:22463401..22465734,3	K562	blood:
50	chr22:22301565..22302189-chr22:22326385..22327307,2	K562	blood:

(count:26 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VPREB1-22	chr22:22398016-22398340	NONHSAT083735
2	lnc-TOP3B-1	chr22:22380099-22380527	NONHSAT083730
3	lnc-VPREB1-15	chr22:22458835-22459267	NONHSAT083743
4	lnc-VPREB1-17	chr22:22434180-22434225	NONHSAT083741
5	lnc-VPREB1-17	chr22:22434336-22434673	NONHSAT083741
6	lnc-TOP3B-1	chr22:22380620-22380720	NONHSAT083730
7	lnc-PPIL2-1	chr22:22295474-22297794	NONHSAT083725
8	lnc-VPREB1-16	chr22:22441127-22441521	NONHSAT083742
9	lnc-VPREB1-24	chr22:22387143-22387194	NONHSAT083732
10	lnc-VPREB1-23	chr22:22393042-22393087	NONHSAT083734
11	lnc-VPREB1-16	chr22:22440972-22441017	NONHSAT083742
12	lnc-VPREB1-23	chr22:22393197-22393525	NONHSAT083734
13	lnc-TOP3B-1	chr22:22390346-22390668	NONHSAT083730
14	lnc-VPREB1-20	chr22:22415489-22415536	NONHSAT083738
15	lnc-PPIL2-1	chr22:22295474-22297799	ENSG00000224086.3
16	lnc-VPREB1-2	chr22:22390743-22390893	ENSG00000225070.1
17	lnc-VPREB1-21	chr22:22412845-22413304	NONHSAT083737
18	lnc-VPREB1-19	chr22:22424805-22425118	NONHSAT083739
19	lnc-VPREB1-25	chr22:22380474-22380519	NONHSAT083731
20	lnc-VPREB1-2	chr22:22393836-22394463	ENSG00000225070.1
21	lnc-VPREB1-19	chr22:22424636-22424681	NONHSAT083739
22	lnc-VPREB1-20	chr22:22415658-22415950	NONHSAT083738
23	lnc-VPREB1-18	chr22:22429777-22430077	NONHSAT083740
24	lnc-VPREB1-24	chr22:22387300-22387592	NONHSAT083732
25	lnc-VPREB1-15	chr22:22457629-22458457	NONHSAT083743
26	lnc-VPREB1-25	chr22:22380648-22380991	NONHSAT083731

No data

Variant related genes	Relation type
IGLVIV-64	TF binding region
ENSG00000225741	TF binding region
IGLV10-67	TF binding region
PPM1F	TF binding region
IGLVI-70	TF binding region
IGLVIV-65	TF binding region
IGLVI-63	TF binding region
TOP3B	TF binding region
ENSG00000225070	TF binding region
IGLV4-69	TF binding region
PRAMENP	TF binding region
IGLV8-61	TF binding region
IGLV1-62	TF binding region
ENSG00000228161	TF binding region
IGLVIV-66-1	TF binding region
ENSG00000249333	TF binding region
IGLVV-66	TF binding region
IGLVI-68	TF binding region
IGLVIV-64	CpG island
ENSG00000225741	CpG island
IGLV10-67	CpG island
PPM1F	CpG island
IGLVI-70	CpG island
IGLVIV-65	CpG island
IGLVI-63	CpG island
TOP3B	CpG island
ENSG00000225070	CpG island
IGLV4-69	CpG island
PRAMENP	CpG island
IGLV8-61	CpG island
IGLV1-62	CpG island
ENSG00000228161	CpG island
IGLVIV-66-1	CpG island
ENSG00000249333	CpG island
IGLVV-66	CpG island
IGLVI-68	CpG island
ENSG00000100038	chromatin interactions
ENSG00000253794	chromatin interactions
ENSG00000236118	chromatin interactions
ENSG00000224465	chromatin interactions
ENSG00000211640	chromatin interactions
ENSG00000253823	chromatin interactions
ENSG00000100030	chromatin interactions
ENSG00000211641	chromatin interactions
ENSG00000161179	chromatin interactions
ENSG00000254355	chromatin interactions
ENSG00000197549	chromatin interactions
ENSG00000224086	chromatin interactions
ENSG00000070413	chromatin interactions
ENSG00000211638	chromatin interactions
ENSG00000100027	chromatin interactions
ENSG00000205542	chromatin interactions
ENSG00000128228	chromatin interactions
ENSG00000185651	chromatin interactions
ENSG00000185686	chromatin interactions
ENSG00000249333	chromatin interactions
ENSG00000211642	chromatin interactions
ENSG00000253752	chromatin interactions
ENSG00000100023	chromatin interactions
ENSG00000254075	chromatin interactions
ENSG00000182502	chromatin interactions
ENSG00000223461	chromatin interactions
ENSG00000254161	chromatin interactions
ENSG00000100034	chromatin interactions
ENSG00000212102	chromatin interactions
ENSG00000253242	chromatin interactions
ENSG00000225070	chromatin interactions
ENSG00000225741	chromatin interactions
ENSG00000228161	chromatin interactions
ENSG00000211637	chromatin interactions
ENSG00000253239	chromatin interactions
ENSG00000227710	chromatin interactions
ENSG00000272954	chromatin interactions
ENSG00000253874	chromatin interactions

Extended variants
information (count: 7543 )
Associated
traits (count: 220 )

Variant overlapped rSNPs/rCNVs (count:7543 , 50 per page) page: 1 2 3 4 5 6 7 ... 151

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143033584	chr22:22297669-22297670	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
2	rs559604132	chr22:22297673-22297674	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
3	rs186395020	chr22:22297700-22297701	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
4	rs572448155	chr22:22297722-22297723	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
5	rs541323307	chr22:22297723-22297724	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
6	rs79073240	chr22:22297786-22297787	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
7	rs574921273	chr22:22297791-22297792	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
8	rs191091797	chr22:22297829-22297830	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs543018906	chr22:22297850-22297851	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs182418427	chr22:22297883-22297884	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs543227663	chr22:22297898-22297899	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs149347657	chr22:22297915-22297916	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs559577004	chr22:22297938-22297939	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs564775355	chr22:22297939-22297940	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs144704101	chr22:22297956-22297957	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs77918634	chr22:22297961-22297962	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	mRNA abundance
17	rs186747370	chr22:22298097-22298098	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs75618489	chr22:22298105-22298106	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs549878850	chr22:22298143-22298144	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs192676126	chr22:22298149-22298150	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs535560766	chr22:22298150-22298151	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs549214040	chr22:22298177-22298178	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs565938392	chr22:22298197-22298198	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs534850175	chr22:22298218-22298219	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs558046137	chr22:22298256-22298257	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs142874397	chr22:22298259-22298260	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs2329885	chr22:22298273-22298274	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs371536036	chr22:22298279-22298280	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs62234964	chr22:22298347-22298348	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs183211252	chr22:22298385-22298386	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs559442044	chr22:22298446-22298447	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs573080528	chr22:22298451-22298452	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs2329886	chr22:22298474-22298475	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs3838149	chr22:22298479-22298480	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
35	rs397841333	chr22:22298480-22298481	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs527435449	chr22:22298538-22298539	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs565199631	chr22:22298573-22298574	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs547288498	chr22:22298577-22298578	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs570692329	chr22:22298582-22298583	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs75840138	chr22:22298583-22298584	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
41	rs62234965	chr22:22298664-22298665	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs529241253	chr22:22298670-22298671	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs549075205	chr22:22298673-22298674	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs34335730	chr22:22298689-22298690	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs565802920	chr22:22298735-22298736	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs62234966	chr22:22298752-22298753	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs551540937	chr22:22298771-22298772	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs571944028	chr22:22298791-22298792	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs151185864	chr22:22298798-22298799	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs139685992	chr22:22298816-22298817	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:220)

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

Chromatin state (count:2933 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22293000-22298600	Weak transcription	Aorta	Aorta
2	chr22:22293000-22298800	Enhancers	Left Ventricle	heart
3	chr22:22293000-22299200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr22:22293000-22301400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr22:22293000-22306200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr22:22293000-22306400	Weak transcription	Small Intestine	intestine
7	chr22:22293200-22297800	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr22:22293200-22298000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr22:22293200-22298200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr22:22293200-22298400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr22:22293200-22298800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr22:22293200-22298800	Genic enhancers	Fetal Stomach	stomach
13	chr22:22293200-22299000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr22:22293200-22299000	Genic enhancers	Right Atrium	heart
15	chr22:22293200-22299400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr22:22293200-22299600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr22:22293200-22301000	Genic enhancers	Lung	lung
18	chr22:22293200-22301400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr22:22293200-22301600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr22:22293200-22301600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr22:22293200-22301800	Genic enhancers	Spleen	Spleen
22	chr22:22293200-22305400	Genic enhancers	Fetal Muscle Trunk	muscle
23	chr22:22293200-22306000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr22:22293400-22299000	Genic enhancers	Placenta	Placenta
25	chr22:22293400-22299600	Weak transcription	Fetal Kidney	kidney
26	chr22:22293400-22302600	Genic enhancers	Fetal Muscle Leg	muscle
27	chr22:22293600-22298000	Weak transcription	Dnd41	blood
28	chr22:22293600-22298200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr22:22293600-22298400	Enhancers	Brain Hippocampus Middle	brain
30	chr22:22293600-22298600	Weak transcription	Gastric	stomach
31	chr22:22293600-22298800	Weak transcription	HepG2	liver
32	chr22:22293600-22300400	Strong transcription	Thymus	Thymus
33	chr22:22293600-22301600	Strong transcription	Fetal Intestine Small	intestine
34	chr22:22293800-22300400	Genic enhancers	Right Ventricle	heart
35	chr22:22294000-22298400	Enhancers	Adipose Nuclei	Adipose
36	chr22:22294000-22299600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr22:22294000-22300800	Strong transcription	Fetal Brain Female	brain
38	chr22:22294200-22298200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr22:22294200-22298200	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr22:22294200-22298800	Weak transcription	Fetal Brain Male	brain
41	chr22:22294400-22297800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr22:22294600-22301000	Strong transcription	Brain Germinal Matrix	brain
43	chr22:22294800-22298200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr22:22295000-22298400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr22:22295000-22301000	Strong transcription	Fetal Intestine Large	intestine
46	chr22:22295200-22299200	Genic enhancers	Primary monocytes fromperipheralblood	blood
47	chr22:22295800-22297800	Enhancers	Brain Angular Gyrus	brain
48	chr22:22295800-22297800	Enhancers	Duodenum Mucosa	Duodenum
49	chr22:22295800-22298000	Enhancers	HMEC	breast
50	chr22:22296000-22298000	Enhancers	Brain Anterior Caudate	brain

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