Variant report

Variant	esv3414520
Chromosome Location	chr12:42630935-42633283
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	chr12:42632233-42632433	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:42632492-42632514	K562	blood:	n/a	n/a
3	ARID3A	chr12:42631893-42631981	K562	blood:	n/a	n/a
4	ARID3A	chr12:42631288-42631488	HepG2	liver:	n/a	n/a
5	ATF2	chr12:42631169-42631590	GM12878	blood:	n/a	n/a
6	ATF3	chr12:42632047-42632313	K562	blood:	n/a	chr12:42632174-42632194
7	ATF3	chr12:42632079-42632260	GM12878	blood:	n/a	chr12:42632174-42632194
8	ATF3	chr12:42632078-42632289	HepG2	liver:	n/a	chr12:42632174-42632194
9	ATF3	chr12:42631953-42632381	GM12878	blood:	n/a	chr12:42632174-42632194
10	ATF3	chr12:42632070-42632285	H1-hESC	embryonic stem cell:	n/a	chr12:42632174-42632194
11	BACH1	chr12:42631143-42631510	H1-hESC	embryonic stem cell:	n/a	n/a
12	BCLAF1	chr12:42631108-42631617	GM12878	blood:	n/a	chr12:42631292-42631305 chr12:42631324-42631337
13	BCLAF1	chr12:42632060-42632811	GM12878	blood:	n/a	chr12:42632156-42632165 chr12:42632239-42632252 chr12:42632116-42632129
14	BHLHE40	chr12:42632197-42632250	A549	lung:	n/a	chr12:42632198-42632214
15	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
16	BHLHE40	chr12:42631080-42631577	K562	blood:	n/a	chr12:42631556-42631572
17	BHLHE40	chr12:42631942-42632907	HepG2	liver:	n/a	chr12:42632198-42632214 chr12:42632174-42632183 chr12:42632175-42632184 chr12:42632172-42632185 chr12:42632174-42632183
18	BHLHE40	chr12:42631841-42632958	K562	blood:	n/a	chr12:42632198-42632214 chr12:42632174-42632183 chr12:42632175-42632184 chr12:42632172-42632185 chr12:42632174-42632183
19	BRCA1	chr12:42630966-42631541	Hela-S3	cervix:	n/a	n/a
20	BRCA1	chr12:42632290-42632335	HepG2	liver:	n/a	n/a
21	BRCA1	chr12:42631800-42631860	GM12878	blood:	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	chr12:42632015-42632034	K562	blood:	n/a	n/a
25	CEBPB	chr12:42631098-42631637	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr12:42633269-42633547	IMR90	lung:	n/a	chr12:42633440-42633451
27	CEBPB	chr12:42631057-42631631	GM12878	blood:	n/a	n/a
28	CEBPB	chr12:42632577-42632777	K562	blood:	n/a	n/a
29	CEBPB	chr12:42631913-42632751	Hela-S3	cervix:	n/a	n/a
30	CEBPD	chr12:42631822-42632070	HepG2	liver:	n/a	n/a
31	CEBPD	chr12:42631288-42631567	HepG2	liver:	n/a	n/a
32	CEBPD	chr12:42632112-42632408	HepG2	liver:	n/a	n/a
33	CHD1	chr12:42631799-42632675	GM12878	blood:	n/a	chr12:42631852-42631862
34	CHD1	chr12:42631216-42631579	H1-hESC	embryonic stem cell:	n/a	chr12:42631292-42631302
35	CHD1	chr12:42630487-42632928	IMR90	lung:	n/a	chr12:42631292-42631302 chr12:42631852-42631862
36	CHD1	chr12:42631045-42631540	GM12878	blood:	n/a	chr12:42631292-42631302
37	CHD2	chr12:42631998-42632514	HepG2	liver:	n/a	n/a
38	CHD2	chr12:42631140-42632927	Hela-S3	cervix:	n/a	chr12:42631292-42631302 chr12:42631852-42631862
39	CHD2	chr12:42631070-42631506	HepG2	liver:	n/a	chr12:42631292-42631302
40	CHD2	chr12:42631157-42632706	GM12878	blood:	n/a	chr12:42631292-42631302 chr12:42631852-42631862
41	CHD2	chr12:42631971-42632336	K562	blood:	n/a	n/a
42	CHD2	chr12:42631307-42631607	K562	blood:	n/a	n/a
43	CREB1	chr12:42631167-42631715	A549	lung:	n/a	n/a
44	CREB1	chr12:42631743-42632394	A549	lung:	n/a	n/a
45	CTBP2	chr12:42631265-42631954	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTCF	chr12:42631246-42631507	SK-N-SH_RA	brain:	n/a	chr12:42631291-42631304
47	CTCF	chr12:42631246-42631522	A549	lung:	n/a	chr12:42631291-42631304
48	CTCF	chr12:42631243-42631565	LNCaP	prostate:	n/a	chr12:42631291-42631304
49	CTCF	chr12:42631265-42631582	HepG2	liver:	n/a	chr12:42631566-42631579 chr12:42631291-42631304
50	CTCF	chr12:42631261-42631573	MCF-7	breast:	n/a	chr12:42631291-42631304

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:42632907-42632957	AG09319	gingival:	n/a
2	chr12:42631401-42631451	HEEpiC	esophagus:	n/a
3	chr12:42632138-42632188	AG09319	gingival:	n/a
4	chr12:42632312-42632362	AG04449	skin:	fetal
5	chr12:42632138-42632188	HAEpiC	amniotic membrane:	n/a
6	chr12:42631803-42631853	HRE	kidney:	n/a
7	chr12:42632907-42632957	NH-A	brain:	n/a
8	chr12:42632618-42632668	GM06990	blood:	n/a
9	chr12:42632129-42632179	NB4	blood:	n/a
10	chr12:42632312-42632362	HCT-116	colon:	n/a
11	chr12:42632907-42632957	AG04449	skin:	fetal
12	chr12:42632907-42632957	Hepatocyte	liver:	n/a
13	chr12:42632138-42632188	NHDF-neo	bronchial:	n/a
14	chr12:42632129-42632179	Hepatocyte	liver:	n/a
15	chr12:42632138-42632188	HIPEpiC	eye:	n/a
16	chr12:42632618-42632668	LNCaP	prostate:	n/a
17	chr12:42632312-42632362	IMR90	lung:	fetal
18	chr12:42632001-42632051	AG09319	gingival:	n/a
19	chr12:42632129-42632179	Hela-S3	cervix:	n/a
20	chr12:42632129-42632179	GM19239	blood:	n/a
21	chr12:42631803-42631853	HAEpiC	amniotic membrane:	n/a
22	chr12:42632138-42632188	AG04450	lung:	fetal
23	chr12:42632138-42632188	GM19239	blood:	n/a
24	chr12:42632138-42632188	HMEC	breast:	n/a
25	chr12:42632138-42632188	AG04449	skin:	fetal
26	chr12:42632138-42632188	PANC-1	pancreas:	n/a
27	chr12:42632325-42632375	HCM	heart:	n/a
28	chr12:42632325-42632375	Jurkat	blood:	n/a
29	chr12:42632129-42632179	H1-hESC	embryonic stem cell:	embryo
30	chr12:42632138-42632188	ovcar-3	ovarian:	n/a
31	chr12:42632312-42632362	MCF10A-Er-Src	breast:	n/a
32	chr12:42632001-42632051	HCM	heart:	n/a
33	chr12:42632129-42632179	HRE	kidney:	n/a
34	chr12:42632325-42632375	GM12878	blood:	n/a
35	chr12:42632001-42632051	AG10803	skin:	n/a
36	chr12:42632001-42632051	ovcar-3	ovarian:	n/a
37	chr12:42631803-42631853	HEEpiC	esophagus:	n/a
38	chr12:42632129-42632179	HepG2	liver:	n/a
39	chr12:42632129-42632179	GM12892	blood:	n/a
40	chr12:42632618-42632668	HL-60	blood:	n/a
41	chr12:42632325-42632375	NHBE	bronchial:	n/a
42	chr12:42632907-42632957	K562	blood:	n/a
43	chr12:42632618-42632668	HRPEpiC	eye:	n/a
44	chr12:42631803-42631853	NT2-D1	testis:	n/a
45	chr12:42631401-42631451	GM12878	blood:	n/a
46	chr12:42632001-42632051	SK-N-MC	brain:	n/a
47	chr12:42632138-42632188	NH-A	brain:	n/a
48	chr12:42632325-42632375	NT2-D1	testis:	n/a
49	chr12:42632001-42632051	ECC-1	luminal epithelium:	n/a
50	chr12:42632138-42632188	SKMC	muscle:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:45805626..45806419-chr12:42631018..42631667,2	Hela-S3	cervix:
2	chr12:42552974..42555837-chr12:42630405..42632767,3	MCF-7	breast:
3	chr12:42537005..42540223-chr12:42630265..42633071,6	MCF-7	breast:
4	chr12:42631482..42632205-chr5:122758852..122759800,2	Hela-S3	cervix:
5	chr12:42631625..42634573-chr12:42719114..42721447,2	K562	blood:
6	chr12:42631475..42633841-chr12:42740722..42742775,2	K562	blood:
7	chr10:119805630..119806602-chr12:42631612..42632131,2	HCT-116	colon:
8	chr12:42631954..42632456-chr3:72495895..72496648,2	MCF-7	breast:
9	chr12:42631634..42632169-chr16:18812364..18812945,2	Hela-S3	cervix:
10	chr12:42631690..42633240-chr12:42634536..42637417,2	MCF-7	breast:
11	chr12:42631389..42632009-chr2:99224712..99225682,3	Hela-S3	cervix:
12	chr12:42629382..42633215-chr12:42724719..42729481,4	MCF-7	breast:
13	chr12:42536858..42540358-chr12:42630016..42633914,10	MCF-7	breast:
14	chr12:42629596..42634057-chr12:42635851..42641617,6	MCF-7	breast:
15	chr12:42629683..42634871-chr12:42717173..42721669,10	K562	blood:
16	chr12:42631956..42632484-chr3:72495796..72496451,3	HCT-116	colon:
17	chr1:115322980..115323593-chr12:42632513..42633232,2	MCF-7	breast:
18	chr12:42536195..42540644-chr12:42629191..42634148,6	K562	blood:
19	chr12:42604514..42606736-chr12:42630600..42632682,2	MCF-7	breast:
20	chr12:42630581..42632543-chr12:42717454..42720310,3	MCF-7	breast:
21	chr12:42535865..42541158-chr12:42630084..42634162,10	K562	blood:
22	chr12:42602650..42606559-chr12:42628357..42633249,5	MCF-7	breast:
23	chr12:42630585..42631302-chr8:144126589..144127131,2	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
ENSG00000163602	chromatin interactions
ENSG00000183513	chromatin interactions
ENSG00000132773	chromatin interactions
ENSG00000115446	chromatin interactions
ENSG00000052723	chromatin interactions
ENSG00000260342	chromatin interactions
ENSG00000168944	chromatin interactions
ENSG00000252917	chromatin interactions
ENSG00000170540	chromatin interactions
ENSG00000151233	chromatin interactions
ENSG00000107560	chromatin interactions
ENSG00000177640	chromatin interactions
ENSG00000134283	chromatin interactions
ENSG00000132781	chromatin interactions
ENSG00000015153	chromatin interactions
ENSG00000241710	chromatin interactions
ENSG00000139168	chromatin interactions

Extended variants
information (count: 73 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	rs547614485	chr12:42631602-42631603	Bivalent/Poised TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
23	rs57579381	chr12:42631653-42631654	Bivalent/Poised TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
24	rs539844234	chr12:42631707-42631708	Bivalent/Poised TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
25	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
26	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
27	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
28	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
29	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
30	rs574594282	chr12:42632101-42632102	Bivalent/Poised TSS Active TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
31	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
32	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
33	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
34	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
35	rs563707426	chr12:42632274-42632275	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
36	rs142252797	chr12:42632275-42632276	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
37	rs148210738	chr12:42632288-42632289	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
38	rs531183851	chr12:42632340-42632341	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs550104817	chr12:42632344-42632345	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs75085410	chr12:42632354-42632355	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs529472362	chr12:42632356-42632357	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs140892185	chr12:42632372-42632373	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs113800947	chr12:42632387-42632388	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
44	rs566061339	chr12:42632388-42632389	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
45	rs539907615	chr12:42632406-42632407	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs551888795	chr12:42632548-42632549	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs570093992	chr12:42632552-42632553	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs537439598	chr12:42632572-42632573	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
49	rs150186170	chr12:42632585-42632586	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs527950082	chr12:42632634-42632635	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region CpG island 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:404 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42569800-42631000	Weak transcription	Gastric	stomach
2	chr12:42609800-42631000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:42613600-42631000	Weak transcription	Ovary	ovary
4	chr12:42620400-42631000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:42628000-42631000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:42628200-42631000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr12:42628600-42631000	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr12:42628600-42631000	Weak transcription	Esophagus	oesophagus
9	chr12:42628600-42631200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:42628800-42631000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr12:42629000-42631000	Enhancers	Colon Smooth Muscle	Colon
12	chr12:42629000-42631000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr12:42629200-42631000	Weak transcription	Stomach Mucosa	stomach
14	chr12:42629200-42633000	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr12:42629400-42631000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr12:42629400-42631000	Enhancers	Fetal Lung	lung
17	chr12:42629600-42631000	Weak transcription	Placenta	Placenta
18	chr12:42629600-42631400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:42629600-42632600	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr12:42629800-42631000	Weak transcription	Left Ventricle	heart
21	chr12:42629800-42631000	Weak transcription	Lung	lung
22	chr12:42629800-42631000	Weak transcription	Pancreas	Pancrea
23	chr12:42629800-42631000	Weak transcription	Psoas Muscle	Psoas
24	chr12:42629800-42631000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr12:42629800-42631000	Weak transcription	Right Ventricle	heart
26	chr12:42629800-42631000	Weak transcription	Thymus	Thymus
27	chr12:42629800-42631000	Weak transcription	Spleen	Spleen
28	chr12:42629800-42632400	Active TSS	NHLF	lung
29	chr12:42629800-42632800	Active TSS	Right Atrium	heart
30	chr12:42629800-42632800	Active TSS	GM12878-XiMat	blood
31	chr12:42630000-42631200	Weak transcription	Small Intestine	intestine
32	chr12:42630000-42632600	Active TSS	Brain Angular Gyrus	brain
33	chr12:42630200-42631000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr12:42630200-42631000	Weak transcription	Fetal Brain Male	brain
35	chr12:42630200-42631200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr12:42630200-42632400	Active TSS	HMEC	breast
37	chr12:42630200-42632600	Active TSS	HSMMtube	muscle
38	chr12:42630200-42632800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:42630400-42631000	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr12:42630400-42631000	Enhancers	Primary B cells from peripheral blood	blood
41	chr12:42630400-42631200	Flanking Active TSS	Duodenum Mucosa	Duodenum
42	chr12:42630400-42631200	Flanking Active TSS	HUVEC	blood vessel
43	chr12:42630400-42632600	Active TSS	Muscle Satellite Cultured Cells	--
44	chr12:42630400-42632600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr12:42630400-42632600	Active TSS	A549	lung
46	chr12:42630400-42632800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr12:42630600-42631000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
48	chr12:42630600-42631000	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr12:42630600-42631000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
50	chr12:42630600-42631000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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