Variant report

Variant	nsv1064398
Chromosome Location	chr22:22307582-22569882
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7021)
CpG islands
(count:1958)
Chromatin interactive
region (count:430)
LncRNA
region (count:37)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7021 , 50 per page) page: 1 2 3 4 5 6 7 ... 141

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:22465810-22466041	K562	blood:	n/a	n/a
2	ARID3A	chr22:22415907-22416441	HepG2	liver:	n/a	n/a
3	ARID3A	chr22:22457409-22457646	K562	blood:	n/a	n/a
4	ARID3A	chr22:22337039-22337516	K562	blood:	n/a	n/a
5	ARID3A	chr22:22477001-22477277	K562	blood:	n/a	n/a
6	ARID3A	chr22:22468023-22468176	K562	blood:	n/a	n/a
7	ARID3A	chr22:22415037-22415189	K562	blood:	n/a	n/a
8	ARID3A	chr22:22384968-22385236	K562	blood:	n/a	n/a
9	ARID3A	chr22:22510976-22511458	K562	blood:	n/a	n/a
10	ARID3A	chr22:22337105-22337394	HepG2	liver:	n/a	n/a
11	ARID3A	chr22:22307655-22307768	HepG2	liver:	n/a	n/a
12	ARID3A	chr22:22549750-22550101	K562	blood:	n/a	n/a
13	ARID3A	chr22:22378057-22378223	K562	blood:	n/a	n/a
14	ARID3A	chr22:22415118-22415318	HepG2	liver:	n/a	n/a
15	ARID3A	chr22:22560720-22560804	HepG2	liver:	n/a	n/a
16	ARID3A	chr22:22535924-22535987	HepG2	liver:	n/a	n/a
17	ARID3A	chr22:22564820-22564910	K562	blood:	n/a	n/a
18	ARID3A	chr22:22339268-22339597	K562	blood:	n/a	n/a
19	ARID3A	chr22:22463869-22465524	K562	blood:	n/a	n/a
20	ARID3A	chr22:22442521-22442964	HepG2	liver:	n/a	n/a
21	ARID3A	chr22:22417403-22417736	K562	blood:	n/a	n/a
22	ARID3A	chr22:22392224-22392534	K562	blood:	n/a	n/a
23	ARID3A	chr22:22355812-22356985	K562	blood:	n/a	n/a
24	ATF1	chr22:22356266-22356718	K562	blood:	n/a	n/a
25	ATF1	chr22:22392194-22392539	K562	blood:	n/a	n/a
26	ATF1	chr22:22424538-22424979	K562	blood:	n/a	n/a
27	ATF1	chr22:22378052-22378257	K562	blood:	n/a	n/a
28	ATF1	chr22:22387947-22388240	K562	blood:	n/a	n/a
29	ATF1	chr22:22369120-22369190	K562	blood:	n/a	n/a
30	ATF1	chr22:22372503-22372604	K562	blood:	n/a	n/a
31	ATF1	chr22:22564831-22565179	K562	blood:	n/a	n/a
32	ATF1	chr22:22417546-22417837	K562	blood:	n/a	n/a
33	ATF1	chr22:22475770-22475855	K562	blood:	n/a	n/a
34	ATF1	chr22:22367936-22368085	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	chr22:22511153-22511471	K562	blood:	n/a	n/a
38	ATF1	chr22:22360525-22360873	K562	blood:	n/a	n/a
39	ATF1	chr22:22522930-22523217	K562	blood:	n/a	n/a
40	ATF1	chr22:22443522-22443568	K562	blood:	n/a	n/a
41	ATF1	chr22:22512634-22512947	K562	blood:	n/a	n/a
42	ATF2	chr22:22336963-22337512	GM12878	blood:	n/a	n/a
43	ATF2	chr22:22549842-22550256	GM12878	blood:	n/a	n/a
44	ATF2	chr22:22465320-22465759	GM12878	blood:	n/a	n/a
45	ATF2	chr22:22549799-22550171	GM12878	blood:	n/a	n/a
46	ATF2	chr22:22337046-22337443	GM12878	blood:	n/a	n/a
47	ATF2	chr22:22377249-22377905	GM12878	blood:	n/a	n/a
48	ATF2	chr22:22384775-22385741	GM12878	blood:	n/a	n/a
49	ATF2	chr22:22465462-22465708	GM12878	blood:	n/a	n/a
50	ATF2	chr22:22465784-22466187	GM12878	blood:	n/a	n/a

(count:1958 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:22307684-22307734	AG04449	skin:	fetal
2	chr22:22337171-22337221	HEK293	kidney:	embryo
3	chr22:22311698-22311748	BE2_C	brain:	n/a
4	chr22:22336396-22336446	HCPEpiC	choroid plexus:	n/a
5	chr22:22336396-22336446	AG09319	gingival:	n/a
6	chr22:22469873-22469923	Hela-S3	cervix:	n/a
7	chr22:22307684-22307734	AG04449	skin:	fetal
8	chr22:22337171-22337221	HEK293	kidney:	embryo
9	chr22:22311698-22311748	BE2_C	brain:	n/a
10	chr22:22336396-22336446	HCPEpiC	choroid plexus:	n/a
11	chr22:22336396-22336446	AG09319	gingival:	n/a
12	chr22:22469873-22469923	Hela-S3	cervix:	n/a
13	chr22:22337153-22337203	NHBE	bronchial:	n/a
14	chr22:22337374-22337424	HPAEpiC	pulmonary alveolar:	n/a
15	chr22:22337374-22337424	T-47D	breast:	n/a
16	chr22:22337322-22337372	HMEC	breast:	n/a
17	chr22:22336396-22336446	HRPEpiC	eye:	n/a
18	chr22:22337327-22337377	HPAEpiC	pulmonary alveolar:	n/a
19	chr22:22469147-22469197	NHBE	bronchial:	n/a
20	chr22:22337171-22337221	A549	lung:	n/a
21	chr22:22337327-22337377	LNCaP	prostate:	n/a
22	chr22:22337034-22337084	AG04449	skin:	fetal
23	chr22:22469873-22469923	NH-A	brain:	n/a
24	chr22:22337178-22337228	GM12892	blood:	n/a
25	chr22:22309769-22309819	ovcar-3	ovarian:	n/a
26	chr22:22469842-22469892	NH-A	brain:	n/a
27	chr22:22307684-22307734	LNCaP	prostate:	n/a
28	chr22:22337034-22337084	K562	blood:	n/a
29	chr22:22315643-22315693	SK-N-MC	brain:	n/a
30	chr22:22337322-22337372	Hepatocyte	liver:	n/a
31	chr22:22469147-22469197	HL-60	blood:	n/a
32	chr22:22307684-22307734	AG04450	lung:	fetal
33	chr22:22307573-22307623	NH-A	brain:	n/a
34	chr22:22312957-22313007	PANC-1	pancreas:	n/a
35	chr22:22312957-22313007	HIPEpiC	eye:	n/a
36	chr22:22339538-22339588	HRCEpiC	kidney:	n/a
37	chr22:22309769-22309819	ProgFib	skin:	n/a
38	chr22:22337327-22337377	RPTEC	kidney:	n/a
39	chr22:22334553-22334603	ovcar-3	ovarian:	n/a
40	chr22:22337171-22337221	GM19239	blood:	n/a
41	chr22:22307684-22307734	NB4	blood:	n/a
42	chr22:22337322-22337372	NT2-D1	testis:	n/a
43	chr22:22337322-22337372	Caco-2	colon:	n/a
44	chr22:22380839-22380889	AG04450	lung:	fetal
45	chr22:22334553-22334603	T-47D	breast:	n/a
46	chr22:22307684-22307734	Jurkat	blood:	n/a
47	chr22:22472384-22472434	AG09319	gingival:	n/a
48	chr22:22315643-22315693	Hepatocyte	liver:	n/a
49	chr22:22471216-22471266	HRE	kidney:	n/a
50	chr22:22307684-22307734	HRE	kidney:	n/a

(count:430 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Distal block	Cell Line	Cell type
1	chr22:22399536..22401946-chr22:22423237..22426311,3	K562	blood:
2	chr22:22507386..22515452-chr22:22515920..22525466,16	K562	blood:
3	chr22:22292166..22293064-chr22:22414699..22415634,3	K562	blood:
4	chr22:22414688..22415532-chr22:22555572..22556261,2	K562	blood:
5	chr22:22290645..22292893-chr22:22385193..22387835,2	K562	blood:
6	chr22:22511255..22511788-chr22:22522548..22523132,2	K562	blood:
7	chr22:22569533..22571755-chr22:22584021..22586348,2	K562	blood:
8	chr22:22481160..22483174-chr22:22484902..22487918,3	K562	blood:
9	chr22:22465081..22465624-chr22:22511062..22511684,2	MCF-7	breast:
10	chr22:22064919..22065472-chr22:22307227..22307987,2	K562	blood:
11	chr22:22454454..22455249-chr22:22511032..22511659,2	MCF-7	breast:
12	chr22:22320427..22322900-chr22:22335647..22337789,2	MCF-7	breast:
13	chr22:22384599..22385588-chr22:22525514..22526460,2	MCF-7	breast:
14	chr22:22053698..22055287-chr22:22332085..22334698,2	K562	blood:
15	chr22:22510925..22511680-chr22:22560348..22561277,3	MCF-7	breast:
16	chr22:22221402..22223173-chr22:22398013..22400687,2	K562	blood:
17	chr22:22326562..22327268-chr22:22335793..22337003,3	K562	blood:
18	chr22:22495254..22498542-chr22:22519635..22522268,3	K562	blood:
19	chr22:22509812..22513706-chr22:22514979..22519808,10	K562	blood:
20	chr22:22353488..22356320-chr22:22376115..22378652,2	K562	blood:
21	chr22:22506924..22509410-chr22:22896701..22898355,2	K562	blood:
22	chr22:22301565..22302189-chr22:22326385..22327307,2	K562	blood:
23	chr22:22374309..22381412-chr22:22382617..22388431,10	K562	blood:
24	chr22:22086449..22088631-chr22:22421074..22423935,2	K562	blood:
25	chr22:22325394..22327704-chr22:22474790..22477221,2	K562	blood:
26	chr22:22465010..22465979-chr22:22549552..22550401,2	K562	blood:
27	chr22:22326670..22328362-chr22:22335678..22338446,2	MCF-7	breast:
28	chr22:22481763..22484672-chr22:22491955..22496259,4	K562	blood:
29	chr22:22415114..22415637-chr22:22424139..22425080,2	K562	blood:
30	chr22:22502360..22503062-chr22:22510857..22511755,2	K562	blood:
31	chr22:22549882..22550785-chr22:22711315..22712247,3	K562	blood:
32	chr22:22344482..22346047-chr22:22438098..22440793,2	K562	blood:
33	chr22:22084430..22086760-chr22:22307318..22308898,2	K562	blood:
34	chr22:22454355..22457105-chr22:22495458..22497306,2	K562	blood:
35	chr22:22312865..22314736-chr22:22395820..22398625,2	K562	blood:
36	chr22:22505527..22508924-chr22:22509042..22514982,8	K562	blood:
37	chr22:22217878..22219529-chr22:22513377..22516002,2	K562	blood:
38	chr22:22420802..22423345-chr22:22461533..22464458,2	K562	blood:
39	chr22:22554223..22554749-chr22:22562148..22562818,2	K562	blood:
40	chr22:22549343..22550051-chr22:22676131..22677030,3	MCF-7	breast:
41	chr22:22562673..22564458-chr22:22724826..22726949,2	K562	blood:
42	chr22:22414798..22417040-chr22:22426863..22431113,3	K562	blood:
43	chr22:22089106..22092560-chr22:22306070..22309716,3	K562	blood:
44	chr22:22347136..22348926-chr22:22374935..22377232,2	K562	blood:
45	chr22:22383341..22384076-chr22:22724114..22725041,2	K562	blood:
46	chr22:22292531..22293584-chr22:22326371..22327337,3	K562	blood:
47	chr22:22456727..22458819-chr22:22460642..22462910,2	MCF-7	breast:
48	chr22:22549365..22550379-chr22:22763324..22764299,3	K562	blood:
49	chr22:22510826..22511744-chr22:22590149..22590687,3	K562	blood:
50	chr22:22005826..22007484-chr22:22335133..22337197,2	K562	blood:

(count:37 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 11735 )
Associated
traits (count: 222 )

Variant overlapped rSNPs/rCNVs (count:11735 , 50 per page) page: 1 2 3 4 5 6 7 ... 235

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531432850	chr22:22307603-22307604	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs150464856	chr22:22307605-22307606	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs547969176	chr22:22307610-22307611	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs542548724	chr22:22307630-22307631	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs568057238	chr22:22307638-22307639	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs111323078	chr22:22307648-22307649	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs533829090	chr22:22307729-22307730	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs57020471	chr22:22307730-22307731	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs553734310	chr22:22307924-22307925	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs202068764	chr22:22307979-22307980	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs146963120	chr22:22307980-22307981	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs6000278	chr22:22307994-22307995	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs201405561	chr22:22307995-22307996	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs34555250	chr22:22307996-22307997	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs76244782	chr22:22307997-22307998	Weak transcription ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs559031252	chr22:22308009-22308010	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs575785243	chr22:22308028-22308029	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs544852870	chr22:22308055-22308056	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs550986127	chr22:22308085-22308086	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs138326992	chr22:22308088-22308089	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs575040389	chr22:22308098-22308099	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs182059552	chr22:22308213-22308214	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs540931288	chr22:22308288-22308289	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs185464224	chr22:22308290-22308291	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs74810041	chr22:22308349-22308350	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs75530443	chr22:22308350-22308351	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs149219866	chr22:22308376-22308377	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs146298170	chr22:22308384-22308385	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs561299021	chr22:22308473-22308474	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs189793339	chr22:22308507-22308508	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs570978021	chr22:22308544-22308545	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs548031908	chr22:22308554-22308555	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs567915492	chr22:22308566-22308567	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs527441759	chr22:22308581-22308582	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs139055715	chr22:22308601-22308602	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs9610702	chr22:22308608-22308609	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs373754830	chr22:22308648-22308649	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs539050684	chr22:22308710-22308711	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs143079834	chr22:22308726-22308727	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs117528713	chr22:22308746-22308747	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs9610704	chr22:22308780-22308781	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs79677801	chr22:22308799-22308800	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs553342596	chr22:22308857-22308858	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs6000279	chr22:22308883-22308884	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs373467047	chr22:22309007-22309008	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs540443208	chr22:22309037-22309038	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs5750260	chr22:22309073-22309074	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs567175985	chr22:22309089-22309090	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs9622598	chr22:22309134-22309135	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs577450748	chr22:22309139-22309140	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:222)

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
Breast cancer	22522925	CNVD
Cancer	20164919	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

Chromatin state (count:2680 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22306200-22307600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr22:22306200-22307600	Active TSS	A549	lung
3	chr22:22306200-22307800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr22:22306400-22307600	Active TSS	NHDF-Ad	bronchial
5	chr22:22306400-22307800	Active TSS	Duodenum Smooth Muscle	Duodenum
6	chr22:22306600-22307600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr22:22306600-22307600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr22:22306600-22307600	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr22:22306600-22307600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr22:22306600-22307600	Enhancers	Fetal Brain Male	brain
11	chr22:22306600-22307600	Active TSS	Gastric	stomach
12	chr22:22306600-22307800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr22:22306800-22307600	Active TSS	Brain Hippocampus Middle	brain
14	chr22:22306800-22307600	Active TSS	Fetal Brain Female	brain
15	chr22:22306800-22307800	Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr22:22306800-22307800	Active TSS	Brain Angular Gyrus	brain
17	chr22:22306800-22307800	Active TSS	Brain Cingulate Gyrus	brain
18	chr22:22306800-22307800	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr22:22307000-22308000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
20	chr22:22307200-22307600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr22:22307200-22307600	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr22:22307200-22307600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr22:22307200-22307600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr22:22307200-22307600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr22:22307200-22307600	Active TSS	Colonic Mucosa	Colon
26	chr22:22307200-22307600	Enhancers	Fetal Intestine Small	intestine
27	chr22:22307200-22307600	Enhancers	Fetal Stomach	stomach
28	chr22:22307200-22307600	Enhancers	Placenta Amnion	Placenta Amnion
29	chr22:22307200-22307600	Enhancers	Psoas Muscle	Psoas
30	chr22:22307200-22307800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr22:22307200-22307800	Enhancers	Primary B cells from peripheral blood	blood
32	chr22:22307200-22307800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr22:22307200-22307800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr22:22307200-22307800	Enhancers	Liver	Liver
35	chr22:22307200-22307800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr22:22307200-22307800	Enhancers	Fetal Muscle Trunk	muscle
37	chr22:22307200-22307800	Enhancers	Fetal Muscle Leg	muscle
38	chr22:22307200-22307800	Enhancers	Placenta	Placenta
39	chr22:22307200-22307800	Enhancers	Fetal Thymus	thymus
40	chr22:22307200-22307800	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr22:22307200-22307800	Enhancers	Stomach Mucosa	stomach
42	chr22:22307200-22307800	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr22:22307200-22308000	Enhancers	HUVEC	blood vessel
44	chr22:22307200-22311600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr22:22307200-22312600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr22:22307200-22312800	Weak transcription	Aorta	Aorta
47	chr22:22307200-22313000	Weak transcription	Fetal Heart	heart
48	chr22:22307200-22313000	Weak transcription	Fetal Lung	lung
49	chr22:22307200-22313000	Weak transcription	Left Ventricle	heart
50	chr22:22307200-22313200	Weak transcription	Primary hematopoietic stem cells	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links