Variant report

Variant	nsv558876
Chromosome Location	chr12:51591367-51612730
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:903)
CpG islands
(count:1100)
Chromatin interactive
region (count:69)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:903 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:51611729-51612206	K562	blood:	n/a	chr12:51611853-51611861
2	ARID3A	chr12:51610953-51611047	HepG2	liver:	n/a	n/a
3	BACH1	chr12:51611780-51611873	K562	blood:	n/a	n/a
4	BCL11A	chr12:51611796-51611935	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCL3	chr12:51611768-51612506	A549	lung:	n/a	chr12:51612063-51612072
6	BCL3	chr12:51611952-51612585	A549	lung:	n/a	chr12:51612063-51612072
7	BCLAF1	chr12:51611762-51612577	GM12878	blood:	n/a	chr12:51612063-51612072
8	BHLHE40	chr12:51592147-51592439	HepG2	liver:	n/a	n/a
9	BHLHE40	chr12:51610937-51611086	K562	blood:	n/a	n/a
10	BHLHE40	chr12:51611736-51612222	K562	blood:	n/a	n/a
11	BHLHE40	chr12:51610869-51611118	GM12878	blood:	n/a	n/a
12	BHLHE40	chr12:51611722-51612323	GM12878	blood:	n/a	n/a
13	BRCA1	chr12:51612098-51612407	GM12878	blood:	n/a	n/a
14	BRCA1	chr12:51610934-51611068	Hela-S3	cervix:	n/a	n/a
15	BRCA1	chr12:51611739-51612315	Hela-S3	cervix:	n/a	n/a
16	CBX3	chr12:51611691-51612362	K562	blood:	n/a	n/a
17	CBX3	chr12:51612452-51613033	K562	blood:	n/a	n/a
18	CCNT2	chr12:51612358-51612850	K562	blood:	n/a	n/a
19	CCNT2	chr12:51610840-51612115	K562	blood:	n/a	chr12:51611947-51611956 chr12:51611953-51611962 chr12:51611376-51611385
20	CEBPB	chr12:51595702-51595743	K562	blood:	n/a	n/a
21	CEBPB	chr12:51598661-51598963	ECC-1	luminal epithelium:	n/a	n/a
22	CEBPB	chr12:51598771-51598915	H1-hESC	embryonic stem cell:	n/a	n/a
23	CEBPB	chr12:51598790-51598914	K562	blood:	n/a	n/a
24	CEBPB	chr12:51612342-51612435	H1-hESC	embryonic stem cell:	n/a	n/a
25	CEBPB	chr12:51598713-51598965	IMR90	lung:	n/a	n/a
26	CEBPB	chr12:51612082-51612269	K562	blood:	n/a	n/a
27	CEBPB	chr12:51598615-51598967	ECC-1	luminal epithelium:	n/a	n/a
28	CEBPB	chr12:51592320-51592687	HepG2	liver:	n/a	n/a
29	CEBPB	chr12:51592382-51592523	HepG2	liver:	n/a	n/a
30	CEBPB	chr12:51595687-51595746	IMR90	lung:	n/a	n/a
31	CEBPB	chr12:51598715-51598998	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr12:51611889-51612323	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr12:51595586-51595721	H1-hESC	embryonic stem cell:	n/a	n/a
34	CEBPB	chr12:51592151-51592683	HepG2	liver:	n/a	n/a
35	CHD1	chr12:51610854-51612986	IMR90	lung:	n/a	chr12:51611399-51611409
36	CHD1	chr12:51611769-51612397	GM12878	blood:	n/a	n/a
37	CHD1	chr12:51612019-51612433	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD2	chr12:51610938-51611126	GM12878	blood:	n/a	n/a
39	CHD2	chr12:51611688-51612882	K562	blood:	n/a	n/a
40	CHD2	chr12:51593952-51593977	K562	blood:	n/a	n/a
41	CHD2	chr12:51611686-51612641	GM12878	blood:	n/a	n/a
42	CHD2	chr12:51610992-51611164	K562	blood:	n/a	n/a
43	CHD2	chr12:51611582-51612488	Hela-S3	cervix:	n/a	n/a
44	CHD2	chr12:51611737-51612232	H1-hESC	embryonic stem cell:	n/a	n/a
45	CHD2	chr12:51612724-51612890	HepG2	liver:	n/a	n/a
46	CHD2	chr12:51611879-51611951	HepG2	liver:	n/a	n/a
47	CHD2	chr12:51610927-51611270	Hela-S3	cervix:	n/a	n/a
48	CREB1	chr12:51611688-51612041	ECC-1	luminal epithelium:	n/a	n/a
49	CREB1	chr12:51610873-51611289	A549	lung:	n/a	n/a
50	CREB1	chr12:51611571-51612371	GM12878	blood:	n/a	n/a

(count:1100 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:51612065-51612115	ovcar-3	ovarian:	n/a
2	chr12:51592080-51592130	HepG2	liver:	n/a
3	chr12:51612065-51612115	ovcar-3	ovarian:	n/a
4	chr12:51592080-51592130	HepG2	liver:	n/a
5	chr12:51592141-51592191	PrEC	prostate:	n/a
6	chr12:51611826-51611876	HEK293	kidney:	embryo
7	chr12:51591966-51592016	SAEC	small airway:	n/a
8	chr12:51611826-51611876	NH-A	brain:	n/a
9	chr12:51591966-51592016	PrEC	prostate:	n/a
10	chr12:51611065-51611115	A549	lung:	n/a
11	chr12:51593266-51593316	HepG2	liver:	n/a
12	chr12:51592059-51592109	AG04450	lung:	fetal
13	chr12:51608175-51608225	HMEC	breast:	n/a
14	chr12:51608175-51608225	HRCEpiC	kidney:	n/a
15	chr12:51610927-51610977	H1-hESC	embryonic stem cell:	embryo
16	chr12:51592059-51592109	LNCaP	prostate:	n/a
17	chr12:51611600-51611650	A549	lung:	n/a
18	chr12:51611356-51611406	LNCaP	prostate:	n/a
19	chr12:51592241-51592291	ProgFib	skin:	n/a
20	chr12:51610927-51610977	AG04450	lung:	fetal
21	chr12:51611871-51611921	GM12892	blood:	n/a
22	chr12:51592241-51592291	ECC-1	luminal epithelium:	n/a
23	chr12:51591966-51592016	MCF-7	breast:	n/a
24	chr12:51611356-51611406	SKMC	muscle:	n/a
25	chr12:51612065-51612115	PANC-1	pancreas:	n/a
26	chr12:51592080-51592130	SK-N-SH_RA	brain:	n/a
27	chr12:51611224-51611274	HepG2	liver:	n/a
28	chr12:51608175-51608225	HNPCEpiC	eye:	n/a
29	chr12:51611224-51611274	H1-hESC	embryonic stem cell:	embryo
30	chr12:51612065-51612115	SK-N-MC	brain:	n/a
31	chr12:51611826-51611876	HEEpiC	esophagus:	n/a
32	chr12:51592059-51592109	Hela-S3	cervix:	n/a
33	chr12:51611826-51611876	A549	lung:	n/a
34	chr12:51592080-51592130	NHBE	bronchial:	n/a
35	chr12:51592080-51592130	AG09319	gingival:	n/a
36	chr12:51610927-51610977	NH-A	brain:	n/a
37	chr12:51611224-51611274	HRCEpiC	kidney:	n/a
38	chr12:51610688-51610738	HPAEpiC	pulmonary alveolar:	n/a
39	chr12:51611224-51611274	SKMC	muscle:	n/a
40	chr12:51593266-51593316	GM19239	blood:	n/a
41	chr12:51611065-51611115	HEEpiC	esophagus:	n/a
42	chr12:51611826-51611876	RPTEC	kidney:	n/a
43	chr12:51591966-51592016	PFSK-1	brain:	n/a
44	chr12:51608175-51608225	GM12892	blood:	n/a
45	chr12:51611600-51611650	GM19239	blood:	n/a
46	chr12:51592141-51592191	AG09319	gingival:	n/a
47	chr12:51592241-51592291	K562	blood:	n/a
48	chr12:51592080-51592130	SKMC	muscle:	n/a
49	chr12:51611871-51611921	SKMC	muscle:	n/a
50	chr12:51612065-51612115	SAEC	small airway:	n/a

(count:69 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:51157569..51159359-chr12:51611731..51613454,2	K562	blood:
2	chr12:51157488..51160464-chr12:51611698..51613297,2	MCF-7	breast:
3	chr12:51475900..51479120-chr12:51609514..51613581,8	MCF-7	breast:
4	chr1:17231308..17231913-chr12:51612141..51612873,2	Hela-S3	cervix:
5	chr12:51564992..51566865-chr12:51604200..51606578,2	K562	blood:
6	chr12:51596681..51599666-chr12:51600800..51605686,4	MCF-7	breast:
7	chr12:51595822..51599555-chr12:51601629..51604799,3	K562	blood:
8	chr12:51600105..51601840-chr12:51611427..51613350,2	K562	blood:
9	chr12:51597757..51600269-chr12:51632271..51633974,2	MCF-7	breast:
10	chr12:51475917..51477628-chr12:51596948..51599509,2	MCF-7	breast:
11	chr12:51599853..51602841-chr12:51610727..51612927,3	K562	blood:
12	chr12:51565491..51567919-chr12:51611128..51615638,5	K562	blood:
13	chr12:51610705..51611579-chr12:51632548..51633161,2	NB4	blood:
14	chr12:51610404..51614741-chr12:51616630..51621489,9	K562	blood:
15	chr12:51596681..51599666-chr12:51600800..51605686,4	MCF-7	breast:
16	chr12:51470450..51472551-chr12:51611525..51613316,2	K562	blood:
17	chr12:51441412..51443590-chr12:51604209..51606235,2	MCF-7	breast:
18	chr12:51563450..51568971-chr12:51609008..51613972,14	K562	blood:
19	chr12:51590050..51592096-chr12:51600064..51602157,2	MCF-7	breast:
20	chr12:51566003..51568547-chr12:51591990..51595130,3	K562	blood:
21	chr12:51441675..51442301-chr12:51611617..51612286,2	MCF-7	breast:
22	chr12:51475832..51478799-chr12:51610420..51612899,6	K562	blood:
23	chr12:51476335..51478466-chr12:51598022..51600514,2	K562	blood:
24	chr12:51604877..51606504-chr12:51609691..51611791,2	MCF-7	breast:
25	chr12:51476096..51479039-chr12:51591968..51594960,3	K562	blood:
26	chr12:51609133..51616659-chr12:51628963..51635200,14	K562	blood:
27	chr12:51600105..51601840-chr12:51611427..51613350,2	K562	blood:
28	chr12:51611183..51613531-chr12:51631479..51634171,5	MCF-7	breast:
29	chr12:51601544..51604306-chr12:51636375..51638373,2	K562	blood:
30	chr12:51611211..51612521-chr12:108954486..108955762,3	Hela-S3	cervix:
31	chr12:51596722..51599312-chr12:51605187..51607120,2	K562	blood:
32	chr12:51475610..51478830-chr12:51601366..51604899,4	MCF-7	breast:
33	chr12:51418648..51420255-chr12:51610985..51612931,2	K562	blood:
34	chr12:51611105..51614311-chr12:51630494..51636750,15	K562	blood:
35	chr12:51601579..51604485-chr12:51610338..51611938,2	MCF-7	breast:
36	chr12:51591409..51595089-chr12:51603379..51606614,4	K562	blood:
37	chr12:51601722..51604609-chr12:51638595..51640139,2	K562	blood:
38	chr12:51157569..51160516-chr12:51611731..51613525,2	K562	blood:
39	chr12:51574575..51576474-chr12:51592776..51594992,2	K562	blood:
40	chr12:51611611..51612296-chr5:137805483..137805987,2	HCT-116	colon:
41	chr12:51596658..51599555-chr12:51603094..51605180,2	K562	blood:
42	chr12:51599649..51601909-chr12:51604077..51606697,2	K562	blood:
43	chr12:51610491..51614628-chr12:51614796..51620409,6	K562	blood:
44	chr12:51441021..51443304-chr12:51610017..51612719,2	MCF-7	breast:
45	chr12:51603330..51607074-chr12:51609174..51614260,7	K562	blood:
46	chr12:51475955..51479039-chr12:51590902..51594960,4	K562	blood:
47	chr12:51612109..51612903-chr12:51632289..51632985,2	K562	blood:
48	chr12:51611953..51614531-chr12:51619084..51621846,2	MCF-7	breast:
49	chr12:51476941..51478857-chr12:51596013..51598733,2	MCF-7	breast:
50	chr12:51545382..51548232-chr12:51608906..51610842,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DAZAP2-3	chr12:51611479-51615172	NONHSAT028246

No data

Variant related genes	Relation type
POU6F1	TF binding region
POU6F1	CpG island
ENSG00000264875	chromatin interactions
ENSG00000186010	chromatin interactions
ENSG00000269339	chromatin interactions
ENSG00000075856	chromatin interactions
ENSG00000123268	chromatin interactions
ENSG00000050426	chromatin interactions
ENSG00000110911	chromatin interactions
ENSG00000184271	chromatin interactions
ENSG00000163634	chromatin interactions
ENSG00000185085	chromatin interactions
ENSG00000258674	chromatin interactions
ENSG00000163635	chromatin interactions
ENSG00000164754	chromatin interactions
ENSG00000110925	chromatin interactions
ENSG00000135457	chromatin interactions
ENSG00000183283	chromatin interactions

Extended variants
information (count: 726 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:726 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552782932	chr12:51591429-51591430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs201108082	chr12:51591454-51591455	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs574659552	chr12:51591455-51591456	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs182731987	chr12:51591456-51591457	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs538500219	chr12:51591462-51591463	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs548625058	chr12:51591466-51591467	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs145172246	chr12:51591509-51591510	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs138799784	chr12:51591512-51591513	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs553794298	chr12:51591513-51591514	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs576902965	chr12:51591569-51591570	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs542080450	chr12:51591589-51591590	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs539576925	chr12:51591623-51591624	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs556288593	chr12:51591627-51591628	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs372129770	chr12:51591704-51591705	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs576179402	chr12:51591739-51591740	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs542060024	chr12:51591740-51591741	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs375924107	chr12:51591772-51591773	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs563141596	chr12:51591861-51591862	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs561842608	chr12:51591936-51591937	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs572347004	chr12:51591962-51591963	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs541025005	chr12:51591966-51591967	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs188372084	chr12:51591967-51591968	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs533044045	chr12:51591987-51591988	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs549920772	chr12:51592027-51592028	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs528681902	chr12:51592044-51592045	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs563072491	chr12:51592045-51592046	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs531817122	chr12:51592060-51592061	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs548824319	chr12:51592063-51592064	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs568654260	chr12:51592088-51592089	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs34564724	chr12:51592095-51592096	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs528004033	chr12:51592119-51592120	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs547368792	chr12:51592122-51592123	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs372026868	chr12:51592133-51592134	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs539519690	chr12:51592142-51592143	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs556384931	chr12:51592165-51592166	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs569790220	chr12:51592205-51592206	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs535281200	chr12:51592206-51592207	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs555585145	chr12:51592215-51592216	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs73307706	chr12:51592257-51592258	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs541371481	chr12:51592307-51592308	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs530486962	chr12:51592327-51592328	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs112192043	chr12:51592332-51592333	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs149344808	chr12:51592368-51592369	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs370046118	chr12:51592370-51592371	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs143675379	chr12:51592385-51592386	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs12822272	chr12:51592537-51592538	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs563248923	chr12:51592652-51592653	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs376094562	chr12:51592672-51592673	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs369402683	chr12:51592681-51592682	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs4076884	chr12:51592761-51592762	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:70)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	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
T-cell prolymphocytic leukemia	19278963	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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Breast cancer	21858162	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21509527	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	20409316	CNVD
Hodgkin''s lymphoma	18179710	CNVD

Chromatin state (count:809 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51567400-51610600	Weak transcription	Right Atrium	heart
2	chr12:51578200-51596800	Weak transcription	Fetal Lung	lung
3	chr12:51580400-51592000	Weak transcription	Gastric	stomach
4	chr12:51580600-51595800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr12:51580800-51596800	Weak transcription	Primary T cells from cord blood	blood
6	chr12:51581000-51593200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr12:51581400-51600400	Weak transcription	Psoas Muscle	Psoas
8	chr12:51581400-51610200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:51581800-51592000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:51581800-51596600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:51581800-51610600	Weak transcription	Colonic Mucosa	Colon
12	chr12:51582000-51592600	Weak transcription	Fetal Intestine Large	intestine
13	chr12:51582000-51597000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr12:51582200-51593000	Strong transcription	Brain Hippocampus Middle	brain
15	chr12:51582200-51594000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
16	chr12:51582200-51608000	Weak transcription	NHLF	lung
17	chr12:51582400-51593000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr12:51582400-51594800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr12:51582400-51600000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr12:51582400-51600600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr12:51583400-51594200	Strong transcription	Fetal Stomach	stomach
22	chr12:51583400-51602400	Weak transcription	Fetal Brain Male	brain
23	chr12:51583600-51591800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:51583600-51598400	Weak transcription	Osteobl	bone
25	chr12:51584000-51597000	Weak transcription	Left Ventricle	heart
26	chr12:51584200-51591400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr12:51584200-51591600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:51584400-51610800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr12:51584600-51594600	Strong transcription	Fetal Muscle Leg	muscle
30	chr12:51584600-51596600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr12:51585000-51610200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr12:51585000-51610800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr12:51585400-51592400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr12:51585400-51610200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr12:51585800-51596600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr12:51585800-51596800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr12:51585800-51601400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr12:51585800-51610400	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr12:51586000-51591400	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr12:51586000-51591400	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr12:51586000-51610200	Weak transcription	Primary B cells from peripheral blood	blood
42	chr12:51586200-51591600	Weak transcription	Esophagus	oesophagus
43	chr12:51586200-51592600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr12:51586200-51594000	Weak transcription	Liver	Liver
45	chr12:51586400-51591400	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr12:51586400-51610200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr12:51587000-51591400	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr12:51587000-51591400	Weak transcription	Colon Smooth Muscle	Colon
49	chr12:51587200-51596400	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr12:51588200-51595000	Strong transcription	Brain Germinal Matrix	brain

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