Variant report

Variant	nsv521311
Chromosome Location	chr19:41856886-41882712
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:41869847-41870406	HepG2	liver:	n/a	n/a
2	ARID3A	chr19:41869942-41870841	K562	blood:	n/a	n/a
3	ARID3A	chr19:41860004-41860130	HepG2	liver:	n/a	n/a
4	ARID3A	chr19:41882235-41882563	HepG2	liver:	n/a	n/a
5	ARID3A	chr19:41859905-41860152	K562	blood:	n/a	n/a
6	ARID3A	chr19:41873711-41874092	K562	blood:	n/a	n/a
7	ATF1	chr19:41869597-41870374	K562	blood:	n/a	n/a
8	ATF1	chr19:41873743-41874158	K562	blood:	n/a	n/a
9	ATF2	chr19:41858438-41858968	GM12878	blood:	n/a	n/a
10	ATF2	chr19:41869486-41870417	H1-hESC	embryonic stem cell:	n/a	n/a
11	ATF2	chr19:41857154-41857880	GM12878	blood:	n/a	n/a
12	ATF2	chr19:41869863-41870570	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr19:41859843-41860211	GM12878	blood:	n/a	n/a
14	ATF2	chr19:41869446-41870606	GM12878	blood:	n/a	n/a
15	ATF2	chr19:41859371-41860232	GM12878	blood:	n/a	n/a
16	ATF3	chr19:41856608-41856918	K562	blood:	n/a	n/a
17	ATF3	chr19:41869231-41870758	A549	lung:	n/a	chr19:41870127-41870136
18	ATF3	chr19:41857252-41858005	A549	lung:	n/a	n/a
19	ATF3	chr19:41859750-41860582	A549	lung:	n/a	chr19:41859999-41860008 chr19:41860097-41860111
20	ATF3	chr19:41881994-41882483	A549	lung:	n/a	n/a
21	ATF3	chr19:41869634-41870016	K562	blood:	n/a	n/a
22	ATF3	chr19:41858367-41860264	A549	lung:	n/a	chr19:41859999-41860008 chr19:41860097-41860111
23	BACH1	chr19:41857075-41857747	K562	blood:	n/a	n/a
24	BACH1	chr19:41859900-41860236	H1-hESC	embryonic stem cell:	n/a	n/a
25	BACH1	chr19:41880878-41881084	H1-hESC	embryonic stem cell:	n/a	n/a
26	BACH1	chr19:41882646-41882650	H1-hESC	embryonic stem cell:	n/a	n/a
27	BACH1	chr19:41869841-41870468	K562	blood:	n/a	n/a
28	BACH1	chr19:41856815-41858775	H1-hESC	embryonic stem cell:	n/a	n/a
29	BACH1	chr19:41873769-41874011	K562	blood:	n/a	n/a
30	BACH1	chr19:41859931-41860110	K562	blood:	n/a	n/a
31	BATF	chr19:41873722-41873954	GM12878	blood:	n/a	n/a
32	BCL3	chr19:41881822-41883679	A549	lung:	n/a	chr19:41882570-41882579
33	BCL3	chr19:41858269-41860368	A549	lung:	n/a	chr19:41859822-41859835 chr19:41859815-41859828 chr19:41859817-41859826 chr19:41858567-41858580 chr19:41859608-41859617 chr19:41859895-41859908 chr19:41859820-41859829 chr19:41859816-41859829 chr19:41859611-41859620 chr19:41859891-41859904 chr19:41860015-41860024 chr19:41858958-41858971
34	BCL3	chr19:41859539-41860158	GM12878	blood:	n/a	chr19:41859822-41859835 chr19:41859815-41859828 chr19:41859817-41859826 chr19:41859608-41859617 chr19:41859895-41859908 chr19:41859820-41859829 chr19:41859816-41859829 chr19:41859611-41859620 chr19:41859891-41859904 chr19:41860015-41860024
35	BCL3	chr19:41856816-41860720	A549	lung:	n/a	chr19:41859822-41859835 chr19:41859815-41859828 chr19:41858068-41858077 chr19:41859817-41859826 chr19:41858567-41858580 chr19:41857461-41857470 chr19:41859608-41859617 chr19:41859895-41859908 chr19:41859820-41859829 chr19:41859816-41859829 chr19:41859611-41859620 chr19:41859891-41859904 chr19:41860015-41860024 chr19:41858958-41858971 chr19:41857460-41857469 chr19:41857880-41857889
36	BCL3	chr19:41857163-41857686	GM12878	blood:	n/a	chr19:41857461-41857470 chr19:41857460-41857469
37	BCL3	chr19:41873652-41874287	A549	lung:	n/a	n/a
38	BCL3	chr19:41869300-41871014	A549	lung:	n/a	chr19:41870397-41870406 chr19:41870161-41870170
39	BCL3	chr19:41869086-41870948	A549	lung:	n/a	chr19:41870397-41870406 chr19:41870161-41870170
40	BCL3	chr19:41881874-41883724	A549	lung:	n/a	chr19:41882570-41882579
41	BCLAF1	chr19:41869720-41870590	GM12878	blood:	n/a	chr19:41870397-41870406 chr19:41870161-41870170
42	BCLAF1	chr19:41858227-41859175	GM12878	blood:	n/a	chr19:41858567-41858580 chr19:41858958-41858971
43	BCLAF1	chr19:41859459-41860280	GM12878	blood:	n/a	chr19:41859822-41859835 chr19:41859815-41859828 chr19:41859817-41859826 chr19:41859608-41859617 chr19:41859895-41859908 chr19:41859820-41859829 chr19:41859816-41859829 chr19:41859611-41859620 chr19:41859891-41859904 chr19:41860015-41860024
44	BCLAF1	chr19:41859836-41860251	GM12878	blood:	n/a	chr19:41859895-41859908 chr19:41859891-41859904 chr19:41860015-41860024
45	BCLAF1	chr19:41857049-41858045	GM12878	blood:	n/a	chr19:41857461-41857470 chr19:41857460-41857469 chr19:41857880-41857889
46	BHLHE40	chr19:41859443-41860232	GM12878	blood:	n/a	chr19:41859607-41859623 chr19:41859604-41859620 chr19:41859598-41859614
47	BHLHE40	chr19:41869242-41870612	K562	blood:	n/a	n/a
48	BHLHE40	chr19:41873749-41874101	GM12878	blood:	n/a	n/a
49	BHLHE40	chr19:41856779-41857856	GM12878	blood:	n/a	n/a
50	BHLHE40	chr19:41869223-41870567	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:41860019-41860069	PANC-1	pancreas:	n/a
2	chr19:41870099-41870149	MCF10A-Er-Src	breast:	n/a
3	chr19:41870026-41870076	GM12878	blood:	n/a
4	chr19:41858816-41858866	GM12878	blood:	n/a
5	chr19:41860019-41860069	CMK	blood:	n/a
6	chr19:41869941-41869991	AG04450	lung:	fetal
7	chr19:41860619-41860669	GM12878	blood:	n/a
8	chr19:41860454-41860504	U87	brain:	n/a
9	chr19:41860019-41860069	PANC-1	pancreas:	n/a
10	chr19:41870099-41870149	MCF10A-Er-Src	breast:	n/a
11	chr19:41870026-41870076	GM12878	blood:	n/a
12	chr19:41858816-41858866	GM12878	blood:	n/a
13	chr19:41860019-41860069	CMK	blood:	n/a
14	chr19:41869941-41869991	AG04450	lung:	fetal
15	chr19:41860619-41860669	GM12878	blood:	n/a
16	chr19:41860454-41860504	U87	brain:	n/a
17	chr19:41882234-41882284	AG04449	skin:	fetal
18	chr19:41860619-41860669	SK-N-MC	brain:	n/a
19	chr19:41873930-41873980	HUVEC	blood vessel:	n/a
20	chr19:41882253-41882303	Hela-S3	cervix:	n/a
21	chr19:41870640-41870690	ECC-1	luminal epithelium:	n/a
22	chr19:41860454-41860504	BE2_C	brain:	n/a
23	chr19:41869545-41869595	CMK	blood:	n/a
24	chr19:41860824-41860874	CMK	blood:	n/a
25	chr19:41869545-41869595	SKMC	muscle:	n/a
26	chr19:41860019-41860069	GM12891	blood:	n/a
27	chr19:41857626-41857676	Caco-2	colon:	n/a
28	chr19:41857554-41857604	NB4	blood:	n/a
29	chr19:41860004-41860054	AG04450	lung:	fetal
30	chr19:41869702-41869752	HRPEpiC	eye:	n/a
31	chr19:41859304-41859354	A549	lung:	n/a
32	chr19:41860082-41860132	T-47D	breast:	n/a
33	chr19:41869941-41869991	ovcar-3	ovarian:	n/a
34	chr19:41869702-41869752	U87	brain:	n/a
35	chr19:41870834-41870884	AG04450	lung:	fetal
36	chr19:41868887-41868937	SK-N-SH_RA	brain:	n/a
37	chr19:41860082-41860132	Jurkat	blood:	n/a
38	chr19:41860019-41860069	T-47D	breast:	n/a
39	chr19:41882642-41882692	HIPEpiC	eye:	n/a
40	chr19:41870026-41870076	MCF10A-Er-Src	breast:	n/a
41	chr19:41870099-41870149	HEEpiC	esophagus:	n/a
42	chr19:41880276-41880326	HCT-116	colon:	n/a
43	chr19:41869688-41869738	AG09309	skin:	n/a
44	chr19:41869725-41869775	Jurkat	blood:	n/a
45	chr19:41857626-41857676	ProgFib	skin:	n/a
46	chr19:41857456-41857506	HUVEC	blood vessel:	n/a
47	chr19:41880276-41880326	SAEC	small airway:	n/a
48	chr19:41860454-41860504	HRE	kidney:	n/a
49	chr19:41869688-41869738	U87	brain:	n/a
50	chr19:41870640-41870690	A549	lung:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:41868336..41870018-chr19:41944233..41946275,2	K562	blood:
2	chr19:41825057..41828118-chr19:41860715..41862978,3	K562	blood:
3	chr19:41857011..41859392-chr19:42364268..42366443,2	K562	blood:
4	chr19:41819424..41822559-chr19:41857625..41859763,4	K562	blood:
5	chr19:41852529..41854943-chr19:41858048..41860399,3	K562	blood:
6	chr19:41816143..41817649-chr19:41870161..41871689,2	MCF-7	breast:
7	chr19:41857343..41859988-chr19:41872391..41873966,2	K562	blood:
8	chr19:41858281..41860213-chr19:41869974..41872050,2	MCF-7	breast:
9	chr19:41858284..41860006-chr19:41877759..41881473,3	K562	blood:
10	chr14:56046261..56047012-chr19:41869306..41870109,2	NB4	blood:
11	chr19:41766877..41771286-chr19:41856641..41860631,6	K562	blood:
12	chr19:41869853..41871782-chr19:41881681..41884054,2	K562	blood:
13	chr19:41872814..41874606-chr19:41878668..41881645,2	MCF-7	breast:
14	chr19:41868161..41871707-chr19:41902716..41905358,4	MCF-7	breast:
15	chr19:41817873..41820006-chr19:41861978..41863961,2	MCF-7	breast:
16	chr19:41880830..41883046-chr19:41887103..41889706,2	MCF-7	breast:
17	chr19:41847463..41848120-chr19:41858211..41858806,2	MCF-7	breast:
18	chr19:41870227..41870765-chr7:43908903..43909588,2	NB4	blood:
19	chr19:41858281..41860213-chr19:41869974..41872050,2	MCF-7	breast:
20	chr19:41855447..41861218-chr19:41901143..41905435,7	MCF-7	breast:
21	chr19:41824554..41827469-chr19:41868894..41871689,2	K562	blood:
22	chr19:41855697..41857432-chr19:41868390..41870729,2	K562	blood:
23	chr19:41867702..41870048-chr19:41872329..41873969,2	K562	blood:
24	chr19:41882074..41885616-chr19:41888544..41893640,5	K562	blood:
25	chr19:41814082..41814803-chr19:41860791..41861367,2	K562	blood:
26	chr19:41859483..41864125-chr19:41864354..41869446,7	MCF-7	breast:
27	chr19:41857134..41858690-chr19:41874014..41875708,2	MCF-7	breast:
28	chr19:41832138..41834611-chr19:41867013..41869062,2	K562	blood:
29	chr19:41857915..41859784-chr19:41932609..41934603,2	K562	blood:
30	chr19:41857134..41858690-chr19:41874014..41875708,2	MCF-7	breast:
31	chr19:41872177..41873915-chr19:41931398..41933411,2	K562	blood:
32	chr19:41813131..41816938-chr19:41856231..41860417,4	MCF-7	breast:
33	chr19:41825498..41830119-chr19:41857290..41861615,7	MCF-7	breast:
34	chr19:41852616..41854424-chr19:41857248..41859687,2	MCF-7	breast:
35	chr19:41872814..41874606-chr19:41878668..41881645,2	MCF-7	breast:
36	chr19:41849690..41854029-chr19:41856026..41859802,4	K562	blood:
37	chr19:41854267..41857215-chr19:41859856..41862250,3	MCF-7	breast:
38	chr19:41825075..41827405-chr19:41857006..41859375,3	MCF-7	breast:
39	chr19:41768247..41770079-chr19:41858302..41861510,3	MCF-7	breast:
40	chr19:41869620..41870239-chr6:74230330..74231032,2	Hela-S3	cervix:
41	chr19:41856329..41860180-chr19:41901826..41904297,4	K562	blood:
42	chr19:41858489..41863412-chr19:41867730..41871601,11	K562	blood:
43	chr19:41876401..41879232-chr19:41888612..41891276,2	K562	blood:
44	chr19:41869640..41871954-chr19:41878739..41881491,2	MCF-7	breast:
45	chr19:41868160..41870059-chr19:41902135..41903854,4	K562	blood:
46	chr19:41814494..41816860-chr19:41868645..41871305,2	K562	blood:
47	chr19:41857565..41861683-chr19:41942530..41947234,4	MCF-7	breast:
48	chr19:41814701..41816825-chr19:41855352..41857612,2	K562	blood:
49	chr19:41854267..41857215-chr19:41859856..41862250,3	MCF-7	breast:
50	chr19:41868336..41871272-chr19:41944233..41948538,5	K562	blood:

Variant related genes	Relation type
TGFB1	TF binding region
ENSG00000255730	TF binding region
B9D2	TF binding region
TMEM91	TF binding region
BCKDHA	TF binding region
TGFB1	CpG island
ENSG00000255730	CpG island
B9D2	CpG island
TMEM91	CpG island
BCKDHA	CpG island
ENSG00000248098	chromatin interactions
ENSG00000255730	chromatin interactions
ENSG00000105722	chromatin interactions
ENSG00000077348	chromatin interactions
ENSG00000105329	chromatin interactions
ENSG00000140553	chromatin interactions
ENSG00000177191	chromatin interactions
ENSG00000105341	chromatin interactions
ENSG00000186615	chromatin interactions
ENSG00000268475	chromatin interactions
ENSG00000268987	chromatin interactions
ENSG00000142046	chromatin interactions
ENSG00000105323	chromatin interactions
ENSG00000126777	chromatin interactions
ENSG00000105372	chromatin interactions
ENSG00000123810	chromatin interactions
ENSG00000062582	chromatin interactions
ENSG00000156508	chromatin interactions
ENSG00000142039	chromatin interactions
ENSG00000164828	chromatin interactions

Extended variants
information (count: 1118 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1118 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2241715	chr19:41856886-41856887	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs535614497	chr19:41856966-41856967	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs540378386	chr19:41856982-41856983	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs372249674	chr19:41857009-41857010	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs181095861	chr19:41857017-41857018	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
6	rs575600035	chr19:41857048-41857049	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
7	rs564430367	chr19:41857076-41857077	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
8	rs557738746	chr19:41857110-41857111	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
9	rs185393633	chr19:41857125-41857126	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
10	rs142560157	chr19:41857138-41857139	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
11	rs377057481	chr19:41857171-41857172	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
12	rs539923435	chr19:41857186-41857187	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
13	rs561800129	chr19:41857197-41857198	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
14	rs574969894	chr19:41857199-41857200	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
15	rs189709530	chr19:41857264-41857265	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
16	rs146504446	chr19:41857277-41857278	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
17	rs12462166	chr19:41857404-41857405	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs12983775	chr19:41857439-41857440	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs564292089	chr19:41857476-41857477	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
20	rs111259121	chr19:41857480-41857481	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
21	rs182511444	chr19:41857503-41857504	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
22	rs115690783	chr19:41857506-41857507	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
23	rs546804363	chr19:41857527-41857528	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
24	rs568523481	chr19:41857544-41857545	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
25	rs535330097	chr19:41857556-41857557	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
26	rs80224671	chr19:41857570-41857571	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
27	rs539703491	chr19:41857578-41857579	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
28	rs557808291	chr19:41857620-41857621	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
29	rs572779650	chr19:41857623-41857624	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
30	rs533768357	chr19:41857634-41857635	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
31	rs143535652	chr19:41857694-41857695	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
32	rs150460951	chr19:41857709-41857710	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
33	rs61023216	chr19:41857710-41857711	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
34	rs555213249	chr19:41857716-41857717	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
35	rs76161655	chr19:41857734-41857735	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
36	rs542024647	chr19:41857755-41857756	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
37	rs563502543	chr19:41857767-41857768	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
38	rs79811788	chr19:41857792-41857793	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
39	rs536836498	chr19:41857842-41857843	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
40	rs10418010	chr19:41857844-41857845	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs528509123	chr19:41857871-41857872	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
42	rs36050346	chr19:41857898-41857899	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
43	rs546961170	chr19:41857908-41857909	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
44	rs532448801	chr19:41857929-41857930	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
45	rs562085896	chr19:41857950-41857951	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
46	rs529358590	chr19:41857956-41857957	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
47	rs189167898	chr19:41858021-41858022	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
48	rs371383338	chr19:41858022-41858023	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
49	rs569038759	chr19:41858057-41858058	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
50	rs539622414	chr19:41858126-41858127	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Genital abnormality	22378287	CNVD
Hypospadia	22378287	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1946 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41848200-41857000	Weak transcription	Pancreas	Pancrea
2	chr19:41848400-41857000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr19:41853800-41857000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:41854800-41857000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr19:41854800-41857200	Flanking Active TSS	Primary T cells from cord blood	blood
6	chr19:41854800-41857200	Enhancers	Spleen	Spleen
7	chr19:41855000-41857200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr19:41855000-41859400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr19:41855200-41857000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
10	chr19:41855200-41857200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
11	chr19:41855800-41857200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr19:41855800-41857200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
13	chr19:41856000-41857200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
14	chr19:41856000-41857200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr19:41856000-41860400	Active TSS	Osteobl	bone
16	chr19:41856400-41857000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr19:41856400-41857000	Enhancers	Gastric	stomach
18	chr19:41856400-41857200	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr19:41856400-41858200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr19:41856400-41859000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr19:41856400-41859600	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
22	chr19:41856400-41859600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
23	chr19:41856400-41860200	Active TSS	NH-A	brain
24	chr19:41856600-41857000	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr19:41856600-41857000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr19:41856600-41857000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr19:41856600-41857000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
28	chr19:41856600-41857000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
29	chr19:41856600-41857000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr19:41856600-41857000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr19:41856600-41857000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr19:41856600-41857000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
33	chr19:41856600-41857000	Flanking Active TSS	Fetal Stomach	stomach
34	chr19:41856600-41857000	Active TSS	Right Ventricle	heart
35	chr19:41856600-41857000	Enhancers	Small Intestine	intestine
36	chr19:41856600-41857000	Bivalent Enhancer	Stomach Mucosa	stomach
37	chr19:41856600-41857000	Flanking Active TSS	Thymus	Thymus
38	chr19:41856600-41857000	Enhancers	Hela-S3	cervix
39	chr19:41856600-41857000	Active TSS	K562	blood
40	chr19:41856600-41857200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
41	chr19:41856600-41857200	Flanking Active TSS	Primary B cells from peripheral blood	blood
42	chr19:41856600-41857200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr19:41856600-41857200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr19:41856600-41857200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr19:41856600-41857200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr19:41856600-41857200	Flanking Active TSS	Esophagus	oesophagus
47	chr19:41856600-41857200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
48	chr19:41856600-41857200	Flanking Active TSS	Right Atrium	heart
49	chr19:41856600-41857200	Flanking Active TSS	NHEK	skin
50	chr19:41856600-41857400	Flanking Active TSS	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links