Variant report

Variant	esv3324521
Chromosome Location	chr12:42630510-42633558
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	chr12:42631288-42631488	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:42632233-42632433	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:42631893-42631981	K562	blood:	n/a	n/a
4	ARID3A	chr12:42632492-42632514	K562	blood:	n/a	n/a
5	ATF2	chr12:42631169-42631590	GM12878	blood:	n/a	n/a
6	ATF3	chr12:42631953-42632381	GM12878	blood:	n/a	chr12:42632174-42632194
7	ATF3	chr12:42632079-42632260	GM12878	blood:	n/a	chr12:42632174-42632194
8	ATF3	chr12:42632070-42632285	H1-hESC	embryonic stem cell:	n/a	chr12:42632174-42632194
9	ATF3	chr12:42632047-42632313	K562	blood:	n/a	chr12:42632174-42632194
10	ATF3	chr12:42632078-42632289	HepG2	liver:	n/a	chr12:42632174-42632194
11	BACH1	chr12:42631143-42631510	H1-hESC	embryonic stem cell:	n/a	n/a
12	BCLAF1	chr12:42632060-42632811	GM12878	blood:	n/a	chr12:42632156-42632165 chr12:42632239-42632252 chr12:42632116-42632129
13	BCLAF1	chr12:42631108-42631617	GM12878	blood:	n/a	chr12:42631292-42631305 chr12:42631324-42631337
14	BHLHE40	chr12:42631841-42632958	K562	blood:	n/a	chr12:42632198-42632214 chr12:42632174-42632183 chr12:42632175-42632184 chr12:42632172-42632185 chr12:42632174-42632183
15	BHLHE40	chr12:42631080-42631577	K562	blood:	n/a	chr12:42631556-42631572
16	BHLHE40	chr12:42632197-42632250	A549	lung:	n/a	chr12:42632198-42632214
17	BHLHE40	chr12:42631211-42632605	GM12878	blood:	n/a	chr12:42632198-42632214 chr12:42632174-42632183 chr12:42631556-42631572 chr12:42632175-42632184 chr12:42632172-42632185 chr12:42632174-42632183 chr12:42631564-42631580
18	BHLHE40	chr12:42631942-42632907	HepG2	liver:	n/a	chr12:42632198-42632214 chr12:42632174-42632183 chr12:42632175-42632184 chr12:42632172-42632185 chr12:42632174-42632183
19	BRCA1	chr12:42631800-42631860	GM12878	blood:	n/a	n/a
20	BRCA1	chr12:42632290-42632335	HepG2	liver:	n/a	n/a
21	BRCA1	chr12:42630966-42631541	Hela-S3	cervix:	n/a	n/a
22	CBX3	chr12:42631132-42631605	K562	blood:	n/a	n/a
23	CCNT2	chr12:42631197-42632552	K562	blood:	n/a	n/a
24	CEBPB	chr12:42633291-42633563	K562	blood:	n/a	chr12:42633440-42633451
25	CEBPB	chr12:42631057-42631631	GM12878	blood:	n/a	n/a
26	CEBPB	chr12:42633269-42633547	IMR90	lung:	n/a	chr12:42633440-42633451
27	CEBPB	chr12:42632015-42632034	K562	blood:	n/a	n/a
28	CEBPB	chr12:42631098-42631637	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr12:42632577-42632777	K562	blood:	n/a	n/a
30	CEBPB	chr12:42631913-42632751	Hela-S3	cervix:	n/a	n/a
31	CEBPB	chr12:42633306-42633582	HepG2	liver:	n/a	chr12:42633440-42633451
32	CEBPD	chr12:42632112-42632408	HepG2	liver:	n/a	n/a
33	CEBPD	chr12:42631288-42631567	HepG2	liver:	n/a	n/a
34	CEBPD	chr12:42631822-42632070	HepG2	liver:	n/a	n/a
35	CHD1	chr12:42631216-42631579	H1-hESC	embryonic stem cell:	n/a	chr12:42631292-42631302
36	CHD1	chr12:42631799-42632675	GM12878	blood:	n/a	chr12:42631852-42631862
37	CHD1	chr12:42630487-42632928	IMR90	lung:	n/a	chr12:42631292-42631302 chr12:42631852-42631862
38	CHD1	chr12:42631045-42631540	GM12878	blood:	n/a	chr12:42631292-42631302
39	CHD2	chr12:42631140-42632927	Hela-S3	cervix:	n/a	chr12:42631292-42631302 chr12:42631852-42631862
40	CHD2	chr12:42631971-42632336	K562	blood:	n/a	n/a
41	CHD2	chr12:42631998-42632514	HepG2	liver:	n/a	n/a
42	CHD2	chr12:42631070-42631506	HepG2	liver:	n/a	chr12:42631292-42631302
43	CHD2	chr12:42631157-42632706	GM12878	blood:	n/a	chr12:42631292-42631302 chr12:42631852-42631862
44	CHD2	chr12:42631307-42631607	K562	blood:	n/a	n/a
45	CREB1	chr12:42631743-42632394	A549	lung:	n/a	n/a
46	CREB1	chr12:42631167-42631715	A549	lung:	n/a	n/a
47	CTBP2	chr12:42631265-42631954	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr12:42631320-42631470	HCT-116	colon:	n/a	n/a
49	CTCF	chr12:42631198-42631602	K562	blood:	n/a	chr12:42631566-42631579 chr12:42631291-42631304
50	CTCF	chr12:42631200-42631350	HFF-Myc	foreskin:	n/a	chr12:42631291-42631304

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:42632001-42632051	NH-A	brain:	n/a
2	chr12:42632001-42632051	NH-A	brain:	n/a
3	chr12:42632907-42632957	ovcar-3	ovarian:	n/a
4	chr12:42631803-42631853	Jurkat	blood:	n/a
5	chr12:42632138-42632188	GM06990	blood:	n/a
6	chr12:42631401-42631451	SK-N-SH_RA	brain:	n/a
7	chr12:42632618-42632668	AG09319	gingival:	n/a
8	chr12:42632325-42632375	HMEC	breast:	n/a
9	chr12:42632312-42632362	HUVEC	blood vessel:	n/a
10	chr12:42632312-42632362	CMK	blood:	n/a
11	chr12:42632907-42632957	AG09309	skin:	n/a
12	chr12:42632138-42632188	K562	blood:	n/a
13	chr12:42632138-42632188	NHBE	bronchial:	n/a
14	chr12:42632138-42632188	Caco-2	colon:	n/a
15	chr12:42632907-42632957	HMEC	breast:	n/a
16	chr12:42632312-42632362	PFSK-1	brain:	n/a
17	chr12:42632618-42632668	HEEpiC	esophagus:	n/a
18	chr12:42631803-42631853	RPTEC	kidney:	n/a
19	chr12:42632001-42632051	Caco-2	colon:	n/a
20	chr12:42632129-42632179	SKMC	muscle:	n/a
21	chr12:42631803-42631853	AoSMC	blood vessel:	n/a
22	chr12:42632129-42632179	K562	blood:	n/a
23	chr12:42631401-42631451	MCF10A-Er-Src	breast:	n/a
24	chr12:42632129-42632179	ProgFib	skin:	n/a
25	chr12:42631401-42631451	GM12878	blood:	n/a
26	chr12:42632325-42632375	GM12892	blood:	n/a
27	chr12:42632907-42632957	HPAEpiC	pulmonary alveolar:	n/a
28	chr12:42631401-42631451	Hepatocyte	liver:	n/a
29	chr12:42632129-42632179	U87	brain:	n/a
30	chr12:42631803-42631853	GM06990	blood:	n/a
31	chr12:42632325-42632375	GM19239	blood:	n/a
32	chr12:42632129-42632179	HPAEpiC	pulmonary alveolar:	n/a
33	chr12:42632312-42632362	GM19239	blood:	n/a
34	chr12:42632618-42632668	Caco-2	colon:	n/a
35	chr12:42631803-42631853	HCF	heart:	n/a
36	chr12:42632618-42632668	HPAEpiC	pulmonary alveolar:	n/a
37	chr12:42632001-42632051	HL-60	blood:	n/a
38	chr12:42631401-42631451	NHDF-neo	bronchial:	n/a
39	chr12:42632138-42632188	T-47D	breast:	n/a
40	chr12:42631401-42631451	HRE	kidney:	n/a
41	chr12:42632325-42632375	SAEC	small airway:	n/a
42	chr12:42631401-42631451	SK-N-SH	brain:	n/a
43	chr12:42632325-42632375	GM06990	blood:	n/a
44	chr12:42632907-42632957	HRCEpiC	kidney:	n/a
45	chr12:42632001-42632051	RPTEC	kidney:	n/a
46	chr12:42632129-42632179	AG04450	lung:	fetal
47	chr12:42632312-42632362	SAEC	small airway:	n/a
48	chr12:42631401-42631451	A549	lung:	n/a
49	chr12:42632312-42632362	HAEpiC	amniotic membrane:	n/a
50	chr12:42632907-42632957	SK-N-SH	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:42629382..42633215-chr12:42724719..42729481,4	MCF-7	breast:
2	chr1:45805626..45806419-chr12:42631018..42631667,2	Hela-S3	cervix:
3	chr12:42552974..42555837-chr12:42630405..42632767,3	MCF-7	breast:
4	chr12:42631690..42633240-chr12:42634536..42637417,2	MCF-7	breast:
5	chr12:42536858..42540358-chr12:42630016..42633914,10	MCF-7	breast:
6	chr12:42631956..42632484-chr3:72495796..72496451,3	HCT-116	colon:
7	chr1:115322980..115323593-chr12:42632513..42633232,2	MCF-7	breast:
8	chr12:42535865..42541158-chr12:42630084..42634162,10	K562	blood:
9	chr12:42536195..42540644-chr12:42629191..42634148,6	K562	blood:
10	chr12:42631475..42633841-chr12:42740722..42742775,2	K562	blood:
11	chr12:42613730..42615825-chr12:42628835..42630747,2	K562	blood:
12	chr12:42629596..42634057-chr12:42635851..42641617,6	MCF-7	breast:
13	chr12:42602650..42606559-chr12:42628357..42633249,5	MCF-7	breast:
14	chr12:42604514..42606736-chr12:42630600..42632682,2	MCF-7	breast:
15	chr12:42631634..42632169-chr16:18812364..18812945,2	Hela-S3	cervix:
16	chr12:42631625..42634573-chr12:42719114..42721447,2	K562	blood:
17	chr12:42630585..42631302-chr8:144126589..144127131,2	MCF-7	breast:
18	chr12:42631482..42632205-chr5:122758852..122759800,2	Hela-S3	cervix:
19	chr10:119805630..119806602-chr12:42631612..42632131,2	HCT-116	colon:
20	chr12:42631389..42632009-chr2:99224712..99225682,3	Hela-S3	cervix:
21	chr12:42537005..42540223-chr12:42630265..42633071,6	MCF-7	breast:
22	chr12:42631954..42632456-chr3:72495895..72496648,2	MCF-7	breast:
23	chr12:42629683..42634871-chr12:42717173..42721669,10	K562	blood:
24	chr12:42630581..42632543-chr12:42717454..42720310,3	MCF-7	breast:

Variant related genes	Relation type
RN7SL10P	TF binding region
PPHLN1	TF binding region
YAF2	TF binding region
RN7SL10P	CpG island
PPHLN1	CpG island
YAF2	CpG island
ENSG00000241710	chromatin interactions
ENSG00000139168	chromatin interactions
ENSG00000132781	chromatin interactions
ENSG00000170540	chromatin interactions
ENSG00000163602	chromatin interactions
ENSG00000052723	chromatin interactions
ENSG00000134283	chromatin interactions
ENSG00000107560	chromatin interactions
ENSG00000252917	chromatin interactions
ENSG00000132773	chromatin interactions
ENSG00000183513	chromatin interactions
ENSG00000168944	chromatin interactions
ENSG00000115446	chromatin interactions
ENSG00000015153	chromatin interactions
ENSG00000177640	chromatin interactions
ENSG00000260342	chromatin interactions
ENSG00000151233	chromatin interactions

Extended variants
information (count: 96 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545042437	chr12:42630517-42630518	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs570803188	chr12:42630525-42630526	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs562977341	chr12:42630585-42630586	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs563261990	chr12:42630590-42630591	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs376883094	chr12:42630609-42630610	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs12313439	chr12:42630619-42630620	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs181665263	chr12:42630644-42630645	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs370356952	chr12:42630723-42630724	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs535607121	chr12:42630745-42630746	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs115838767	chr12:42630752-42630753	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs202108934	chr12:42630788-42630789	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs572394398	chr12:42630817-42630818	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs74354786	chr12:42630824-42630825	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs142686643	chr12:42630882-42630883	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs558899970	chr12:42630903-42630904	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs577161503	chr12:42630906-42630907	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs374370440	chr12:42630942-42630943	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs377751701	chr12:42630992-42630993	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs544440420	chr12:42631058-42631059	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs578060917	chr12:42631099-42631100	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs79961212	chr12:42631104-42631105	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs376005827	chr12:42631112-42631113	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs529883533	chr12:42631148-42631149	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs541589291	chr12:42631220-42631221	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs560192190	chr12:42631252-42631253	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs527337786	chr12:42631309-42631310	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs370939224	chr12:42631326-42631327	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
28	rs545581469	chr12:42631331-42631332	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
29	rs551717010	chr12:42631334-42631335	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
30	rs564444146	chr12:42631384-42631385	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
31	rs371001861	chr12:42631389-42631390	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
32	rs202166970	chr12:42631445-42631446	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
33	rs374682971	chr12:42631498-42631499	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
34	rs145860938	chr12:42631507-42631508	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
35	rs202147527	chr12:42631513-42631514	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
36	rs568586864	chr12:42631523-42631524	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
37	rs536043056	chr12:42631600-42631601	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
38	rs547614485	chr12:42631602-42631603	Bivalent/Poised TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
39	rs57579381	chr12:42631653-42631654	Bivalent/Poised TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
40	rs539844234	chr12:42631707-42631708	Bivalent/Poised TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
41	rs558156032	chr12:42631891-42631892	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
42	rs377532776	chr12:42631962-42631963	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
43	rs7971397	chr12:42631987-42631988	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs538176708	chr12:42632005-42632006	Bivalent/Poised TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
45	rs556400992	chr12:42632043-42632044	Bivalent/Poised TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
46	rs574594282	chr12:42632101-42632102	Bivalent/Poised TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
47	rs541998950	chr12:42632163-42632164	Bivalent/Poised TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
48	rs560002827	chr12:42632171-42632172	Bivalent/Poised TSS Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
49	rs571763839	chr12:42632235-42632236	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
50	rs186790001	chr12:42632254-42632255	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:474 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42568800-42630600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:42569600-42630800	Weak transcription	Colonic Mucosa	Colon
3	chr12:42569800-42631000	Weak transcription	Gastric	stomach
4	chr12:42602400-42630800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:42607800-42630600	Weak transcription	NHEK	skin
6	chr12:42608200-42630600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:42609800-42631000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:42613600-42631000	Weak transcription	Ovary	ovary
9	chr12:42613800-42630800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:42620400-42630800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:42620400-42631000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:42620600-42630800	Weak transcription	Fetal Intestine Small	intestine
13	chr12:42620600-42630800	Weak transcription	Fetal Stomach	stomach
14	chr12:42627200-42630800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr12:42628000-42631000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr12:42628200-42630600	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr12:42628200-42631000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr12:42628400-42630600	Enhancers	Liver	Liver
19	chr12:42628600-42630800	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr12:42628600-42630800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr12:42628600-42630800	Enhancers	Brain Substantia Nigra	brain
22	chr12:42628600-42630800	Enhancers	Fetal Heart	heart
23	chr12:42628600-42631000	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr12:42628600-42631000	Weak transcription	Esophagus	oesophagus
25	chr12:42628600-42631200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:42628800-42630600	Enhancers	Brain Hippocampus Middle	brain
27	chr12:42628800-42630800	Enhancers	HepG2	liver
28	chr12:42628800-42631000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr12:42629000-42630800	Weak transcription	Fetal Muscle Leg	muscle
30	chr12:42629000-42631000	Enhancers	Colon Smooth Muscle	Colon
31	chr12:42629000-42631000	Weak transcription	Fetal Muscle Trunk	muscle
32	chr12:42629200-42630600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr12:42629200-42630600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:42629200-42631000	Weak transcription	Stomach Mucosa	stomach
35	chr12:42629200-42633000	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr12:42629400-42630600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:42629400-42630800	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr12:42629400-42631000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr12:42629400-42631000	Enhancers	Fetal Lung	lung
40	chr12:42629600-42630600	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr12:42629600-42630600	Enhancers	Primary T cells from cord blood	blood
42	chr12:42629600-42630600	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr12:42629600-42630800	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr12:42629600-42630800	Enhancers	Primary hematopoietic stem cells	blood
45	chr12:42629600-42630800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr12:42629600-42631000	Weak transcription	Placenta	Placenta
47	chr12:42629600-42631400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:42629600-42632600	Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr12:42629800-42630600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr12:42629800-42630600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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