Variant report

Variant	esv3360539
Chromosome Location	chr1:151809753-151812301
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:218)
CpG islands
(count:610)
Chromatin interactive
region (count:31)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:218 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr1:151811102-151811254	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr1:151812260-151812487	GM12878	blood:	n/a	n/a
3	BHLHE40	chr1:151810621-151811469	GM12878	blood:	n/a	n/a
4	BRCA1	chr1:151811457-151811642	H1-hESC	embryonic stem cell:	n/a	n/a
5	BRCA1	chr1:151808884-151809800	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr1:151808933-151809820	Hela-S3	cervix:	n/a	n/a
7	CHD1	chr1:151811518-151811693	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD1	chr1:151812128-151812349	GM12878	blood:	n/a	n/a
9	CHD1	chr1:151810920-151811056	GM12878	blood:	n/a	n/a
10	CHD2	chr1:151810735-151810928	GM12878	blood:	n/a	n/a
11	CHD2	chr1:151811963-151812513	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD2	chr1:151809015-151809788	Hela-S3	cervix:	n/a	chr1:151809583-151809593 chr1:151809668-151809678
13	CHD2	chr1:151812048-151812691	GM12878	blood:	n/a	n/a
14	CHD2	chr1:151811242-151811572	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTBP2	chr1:151810458-151811711	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTBP2	chr1:151811953-151812953	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr1:151812056-151812512	GM12878	blood:	n/a	n/a
18	CTCF	chr1:151812120-151812270	GM12869	blood:	n/a	n/a
19	CTCF	chr1:151812080-151812230	GM12873	blood:	n/a	n/a
20	CTCF	chr1:151812060-151812210	HMEC	breast:	n/a	n/a
21	CTCF	chr1:151812147-151812152	LNCaP	prostate:	n/a	n/a
22	CTCF	chr1:151812000-151812150	GM06990	blood:	n/a	n/a
23	CTCF	chr1:151811040-151811190	GM12871	blood:	n/a	n/a
24	CTCF	chr1:151812000-151812150	NHEK	skin:	n/a	n/a
25	CTCF	chr1:151808306-151809793	MCF-7	breast:	n/a	chr1:151808816-151808829 chr1:151809084-151809105 chr1:151809091-151809104 chr1:151809095-151809104 chr1:151809089-151809107 chr1:151809598-151809611
26	CTCF	chr1:151812040-151812190	GM12865	blood:	n/a	n/a
27	CTCF	chr1:151812066-151812207	MCF-7	breast:	n/a	n/a
28	CTCF	chr1:151812060-151812210	HEEpiC	esophagus:	n/a	n/a
29	CTCF	chr1:151812088-151812221	Pancreas_OC	pancreas:	n/a	n/a
30	CTCF	chr1:151812137-151812143	LNCaP	prostate:	n/a	n/a
31	CTCF	chr1:151812040-151812190	Caco-2	colon:	n/a	n/a
32	CTCF	chr1:151812124-151812146	MCF-7	breast:	n/a	n/a
33	CTCF	chr1:151812089-151812222	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr1:151812080-151812230	SAEC	small airway:	n/a	n/a
35	CTCF	chr1:151812160-151812310	HepG2	liver:	n/a	n/a
36	CTCF	chr1:151812100-151812250	HCT-116	colon:	n/a	n/a
37	CTCF	chr1:151812082-151812173	MCF-7	breast:	n/a	n/a
38	CTCF	chr1:151812060-151812210	HBMEC	blood vessel:	n/a	n/a
39	CTCF	chr1:151810920-151811070	GM12865	blood:	n/a	n/a
40	CTCF	chr1:151812020-151812170	GM12866	blood:	n/a	n/a
41	CTCF	chr1:151811980-151812130	MCF-7	breast:	n/a	n/a
42	CTCF	chr1:151811980-151812130	GM12873	blood:	n/a	n/a
43	CTCF	chr1:151812140-151812290	SAEC	small airway:	n/a	n/a
44	CTCF	chr1:151812080-151812167	NHEK	skin:	n/a	n/a
45	CTCF	chr1:151812092-151812219	MCF-7	breast:	n/a	n/a
46	CTCF	chr1:151812060-151812210	MCF-7	breast:	n/a	n/a
47	CTCF	chr1:151812071-151812235	MCF-7	breast:	n/a	n/a
48	CTCF	chr1:151812120-151812135	LNCaP	prostate:	n/a	n/a
49	CTCF	chr1:151812060-151812210	HCPEpiC	choroid plexus:	n/a	n/a
50	E2F4	chr1:151812181-151812446	MCF10A-Er-Src	breast:	n/a	chr1:151812264-151812273

(count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:151810904-151810954	NT2-D1	testis:	n/a
2	chr1:151810589-151810639	HL-60	blood:	n/a
3	chr1:151810904-151810954	Caco-2	colon:	n/a
4	chr1:151810904-151810954	HNPCEpiC	eye:	n/a
5	chr1:151811923-151811973	HCF	heart:	n/a
6	chr1:151810899-151810949	HEEpiC	esophagus:	n/a
7	chr1:151810904-151810954	GM06990	blood:	n/a
8	chr1:151810904-151810954	GM19239	blood:	n/a
9	chr1:151810899-151810949	HNPCEpiC	eye:	n/a
10	chr1:151810589-151810639	MCF-7	breast:	n/a
11	chr1:151810899-151810949	PANC-1	pancreas:	n/a
12	chr1:151811620-151811670	HUVEC	blood vessel:	n/a
13	chr1:151810589-151810639	AG10803	skin:	n/a
14	chr1:151810893-151810943	HCPEpiC	choroid plexus:	n/a
15	chr1:151810485-151810535	ovcar-3	ovarian:	n/a
16	chr1:151810589-151810639	PANC-1	pancreas:	n/a
17	chr1:151810899-151810949	HMEC	breast:	n/a
18	chr1:151810589-151810639	PFSK-1	brain:	n/a
19	chr1:151810586-151810636	HMEC	breast:	n/a
20	chr1:151811620-151811670	CMK	blood:	n/a
21	chr1:151810589-151810639	GM12891	blood:	n/a
22	chr1:151811364-151811414	GM06990	blood:	n/a
23	chr1:151810893-151810943	AG09309	skin:	n/a
24	chr1:151810887-151810937	HUVEC	blood vessel:	n/a
25	chr1:151810485-151810535	HIPEpiC	eye:	n/a
26	chr1:151810904-151810954	HepG2	liver:	n/a
27	chr1:151811364-151811414	ProgFib	skin:	n/a
28	chr1:151810899-151810949	A549	lung:	n/a
29	chr1:151811364-151811414	Jurkat	blood:	n/a
30	chr1:151811620-151811670	NHDF-neo	bronchial:	n/a
31	chr1:151810893-151810943	HL-60	blood:	n/a
32	chr1:151810485-151810535	CMK	blood:	n/a
33	chr1:151810586-151810636	BJ	skin:	n/a
34	chr1:151810904-151810954	MCF-7	breast:	n/a
35	chr1:151810586-151810636	HL-60	blood:	n/a
36	chr1:151811364-151811414	MCF-7	breast:	n/a
37	chr1:151810893-151810943	GM12878	blood:	n/a
38	chr1:151811923-151811973	HRCEpiC	kidney:	n/a
39	chr1:151811364-151811414	SKMC	muscle:	n/a
40	chr1:151811620-151811670	HCPEpiC	choroid plexus:	n/a
41	chr1:151810586-151810636	PFSK-1	brain:	n/a
42	chr1:151810589-151810639	K562	blood:	n/a
43	chr1:151810485-151810535	GM19239	blood:	n/a
44	chr1:151811923-151811973	NHBE	bronchial:	n/a
45	chr1:151810899-151810949	HRPEpiC	eye:	n/a
46	chr1:151810893-151810943	HPAEpiC	pulmonary alveolar:	n/a
47	chr1:151811923-151811973	HepG2	liver:	n/a
48	chr1:151811620-151811670	HRE	kidney:	n/a
49	chr1:151810904-151810954	ovcar-3	ovarian:	n/a
50	chr1:151810485-151810535	BE2_C	brain:	n/a

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151811289..151813679-chr17:43235374..43237810,2	MCF-7	breast:
2	chr1:151764210..151765820-chr1:151809530..151811612,2	MCF-7	breast:
3	chr1:151804539..151806807-chr1:151808292..151812161,4	K562	blood:
4	chr1:151510584..151515702-chr1:151808389..151812312,7	MCF-7	breast:
5	chr1:151808068..151810311-chr1:151964159..151966593,4	MCF-7	breast:
6	chr1:151509575..151514119-chr1:151809649..151812293,5	MCF-7	breast:
7	chr1:151542468..151544552-chr1:151811303..151812825,2	MCF-7	breast:
8	chr1:151371973..151373501-chr1:151810861..151813533,2	MCF-7	breast:
9	chr1:151808355..151810594-chr1:151852540..151855427,2	MCF-7	breast:
10	chr1:151810931..151813859-chr1:151881520..151883452,3	MCF-7	breast:
11	chr1:151812161..151813920-chr1:152008098..152012154,3	MCF-7	breast:
12	chr1:151734307..151737224-chr1:151809345..151813879,7	MCF-7	breast:
13	chr1:151430044..151432386-chr1:151809146..151811411,2	MCF-7	breast:
14	chr1:151517981..151521165-chr1:151811031..151814404,3	MCF-7	breast:
15	chr1:151506418..151509266-chr1:151811121..151813998,3	MCF-7	breast:
16	chr1:19410890..19413871-chr1:151808457..151811077,2	MCF-7	breast:
17	chr1:151809368..151811108-chr1:151856031..151858705,2	MCF-7	breast:
18	chr1:151797661..151799547-chr1:151812000..151814982,2	MCF-7	breast:
19	chr1:151483121..151485992-chr1:151808020..151810121,3	MCF-7	breast:
20	chr1:151735784..151737318-chr1:151808411..151810675,2	MCF-7	breast:
21	chr1:151811113..151814780-chr1:151962857..151966577,5	MCF-7	breast:
22	chr1:151809106..151809860-chr3:64016088..64016677,2	MCF-7	breast:
23	chr1:151774281..151778666-chr1:151812036..151815315,4	MCF-7	breast:
24	chr1:151804012..151806616-chr1:151810661..151813276,2	K562	blood:
25	chr1:151810783..151812535-chr1:151860499..151863108,2	MCF-7	breast:
26	chr1:151481758..151484470-chr1:151811083..151813836,2	MCF-7	breast:
27	chr1:151717253..151722089-chr1:151808382..151812448,4	MCF-7	breast:
28	chr1:151811099..151812634-chr7:103621578..103623542,2	MCF-7	breast:
29	chr1:151808928..151809951-chr1:151853655..151854418,3	MCF-7	breast:
30	chr1:151773064..151773919-chr1:151809447..151809983,2	MCF-7	breast:
31	chr1:151795525..151798477-chr1:151809091..151811611,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OAZ3-2	chr1:151811539-151811581	NONHSAT006439

No data

Variant related genes	Relation type
ENSG00000234614	TF binding region
ENSG00000234614	CpG island
ENSG00000207606	chromatin interactions
ENSG00000143436	chromatin interactions
ENSG00000159445	chromatin interactions
ENSG00000143450	chromatin interactions
ENSG00000143365	chromatin interactions
ENSG00000213171	chromatin interactions
ENSG00000143442	chromatin interactions
ENSG00000224505	chromatin interactions
ENSG00000163191	chromatin interactions
ENSG00000143375	chromatin interactions
ENSG00000197747	chromatin interactions
ENSG00000143367	chromatin interactions
ENSG00000159377	chromatin interactions
ENSG00000232536	chromatin interactions
ENSG00000206980	chromatin interactions

Extended variants
information (count: 77 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576962801	chr1:151809772-151809773	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
2	rs137992620	chr1:151809778-151809779	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs565049120	chr1:151809827-151809828	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs6667460	chr1:151809856-151809857	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs541050943	chr1:151809857-151809858	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs560925788	chr1:151809883-151809884	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
7	rs530361078	chr1:151809888-151809889	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
8	rs550441431	chr1:151809942-151809943	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs4845367	chr1:151810073-151810074	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs532749073	chr1:151810083-151810084	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs561207650	chr1:151810233-151810234	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs74125891	chr1:151810242-151810243	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs117119452	chr1:151810255-151810256	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs12122596	chr1:151810304-151810305	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs540448700	chr1:151810329-151810330	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs111836753	chr1:151810336-151810337	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs554637360	chr1:151810370-151810371	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs78950740	chr1:151810386-151810387	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs375839900	chr1:151810411-151810412	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs536991719	chr1:151810415-151810416	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs377436117	chr1:151810431-151810432	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs557223297	chr1:151810466-151810467	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs117866930	chr1:151810477-151810478	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
24	rs188475396	chr1:151810486-151810487	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs373642491	chr1:151810527-151810528	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs572238105	chr1:151810569-151810570	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs541112100	chr1:151810578-151810579	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs560988825	chr1:151810581-151810582	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs368898772	chr1:151810605-151810606	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs574774029	chr1:151810637-151810638	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
31	rs543406951	chr1:151810792-151810793	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs564024295	chr1:151810814-151810815	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs113847894	chr1:151810815-151810816	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs532665002	chr1:151810824-151810825	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs552765508	chr1:151810836-151810837	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs368203330	chr1:151810891-151810892	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
37	rs559968861	chr1:151810897-151810898	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
38	rs528233012	chr1:151810935-151810936	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
39	rs548301743	chr1:151810941-151810942	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
40	rs190542225	chr1:151811037-151811038	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
41	rs537061891	chr1:151811120-151811121	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
42	rs564914374	chr1:151811136-151811137	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
43	rs6673556	chr1:151811226-151811227	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
44	rs539333912	chr1:151811326-151811327	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
45	rs532247828	chr1:151811421-151811422	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
46	rs183029853	chr1:151811434-151811435	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
47	rs74812899	chr1:151811542-151811543	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
48	rs572691194	chr1:151811544-151811545	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
49	rs149066765	chr1:151811553-151811554	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
50	rs375505986	chr1:151811566-151811567	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:118)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:464 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151802400-151810400	Weak transcription	Right Atrium	heart
2	chr1:151802800-151811000	Enhancers	Placenta	Placenta
3	chr1:151804400-151810200	Weak transcription	Gastric	stomach
4	chr1:151804400-151810600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:151804600-151812000	Enhancers	Pancreas	Pancrea
6	chr1:151805000-151810200	Weak transcription	Right Ventricle	heart
7	chr1:151805200-151810400	Weak transcription	Lung	lung
8	chr1:151805200-151810600	Enhancers	Dnd41	blood
9	chr1:151805400-151810400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:151805600-151809800	Enhancers	Duodenum Mucosa	Duodenum
11	chr1:151805600-151811200	Weak transcription	Brain Angular Gyrus	brain
12	chr1:151806000-151810400	Weak transcription	Esophagus	oesophagus
13	chr1:151806200-151810400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr1:151806200-151811000	Weak transcription	Brain Hippocampus Middle	brain
15	chr1:151806400-151811800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr1:151806800-151810000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr1:151807000-151810800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr1:151807200-151810600	Enhancers	Liver	Liver
19	chr1:151808200-151810400	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr1:151808400-151810000	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr1:151808400-151810400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr1:151808400-151810400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
23	chr1:151808400-151810800	Enhancers	HMEC	breast
24	chr1:151808600-151809800	Enhancers	Primary hematopoietic stem cells	blood
25	chr1:151808600-151810400	Enhancers	NHEK	skin
26	chr1:151808800-151809800	Enhancers	Primary T cells fromperipheralblood	blood
27	chr1:151808800-151810000	Enhancers	A549	lung
28	chr1:151808800-151810200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr1:151808800-151810200	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr1:151808800-151810400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:151808800-151810400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:151808800-151810800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:151808800-151810800	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr1:151808800-151811200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:151809000-151809800	Enhancers	Primary T cells from cord blood	blood
36	chr1:151809000-151810000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr1:151809000-151810200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:151809000-151810200	Flanking Active TSS	Hela-S3	cervix
39	chr1:151809000-151812000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
40	chr1:151809200-151809800	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr1:151809200-151810200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
42	chr1:151809200-151810200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr1:151809200-151810200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
44	chr1:151809200-151810200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
45	chr1:151809200-151810400	Bivalent Enhancer	Fetal Lung	lung
46	chr1:151809200-151810800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr1:151809200-151811200	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr1:151809400-151809800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr1:151809400-151809800	Enhancers	Stomach Mucosa	stomach
50	chr1:151809400-151810000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell

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