Variant report

Variant	esv3444099
Chromosome Location	chr1:45670790-45673738
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:319)
CpG islands
(count:859)
Chromatin interactive
region (count:11)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:319 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:45671868-45672047	HepG2	liver:	n/a	n/a
2	BACH1	chr1:45671386-45671431	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr1:45671764-45672248	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr1:45671304-45671940	K562	blood:	n/a	n/a
5	BHLHE40	chr1:45671300-45671954	HepG2	liver:	n/a	n/a
6	BHLHE40	chr1:45672004-45672015	GM12878	blood:	n/a	n/a
7	BRCA1	chr1:45671766-45672004	HepG2	liver:	n/a	n/a
8	CCNT2	chr1:45671498-45672345	K562	blood:	n/a	chr1:45672130-45672139
9	CEBPB	chr1:45671670-45671811	HepG2	liver:	n/a	n/a
10	CEBPB	chr1:45671846-45672268	Hela-S3	cervix:	n/a	n/a
11	CEBPD	chr1:45671301-45672190	HepG2	liver:	n/a	n/a
12	CHD1	chr1:45671704-45671909	H1-hESC	embryonic stem cell:	n/a	n/a
13	CHD2	chr1:45670687-45670919	Hela-S3	cervix:	n/a	n/a
14	CHD2	chr1:45672331-45672332	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD2	chr1:45671871-45671980	HepG2	liver:	n/a	n/a
16	CHD2	chr1:45672187-45672643	HepG2	liver:	n/a	n/a
17	CHD2	chr1:45671788-45672529	Hela-S3	cervix:	n/a	chr1:45672131-45672141
18	CREB1	chr1:45671872-45672329	A549	lung:	n/a	n/a
19	CTBP2	chr1:45671242-45672223	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr1:45671720-45671865	MCF-7	breast:	n/a	n/a
21	CTCF	chr1:45671937-45672050	MCF-7	breast:	n/a	n/a
22	CTCF	chr1:45671680-45671830	HCPEpiC	choroid plexus:	n/a	n/a
23	CTCF	chr1:45672213-45672254	Kidney_OC	kidney:	n/a	n/a
24	CTCF	chr1:45672180-45672330	AG04449	skin:	n/a	n/a
25	CTCF	chr1:45671399-45671455	Gliobla	brain:	n/a	n/a
26	CTCF	chr1:45671777-45671800	GM19240	blood:	n/a	n/a
27	CTCF	chr1:45671700-45671850	GM12871	blood:	n/a	n/a
28	CTCF	chr1:45671739-45671876	A549	lung:	n/a	n/a
29	CTCF	chr1:45671320-45671470	SK-N-SH_RA	brain:	n/a	n/a
30	CTCF	chr1:45671700-45671850	HMEC	breast:	n/a	n/a
31	CTCF	chr1:45671720-45671870	GM12873	blood:	n/a	n/a
32	CTCF	chr1:45671716-45671788	Gliobla	brain:	n/a	n/a
33	CTCF	chr1:45671500-45671650	GM12874	blood:	n/a	n/a
34	CTCF	chr1:45671732-45671832	MCF-7	breast:	n/a	n/a
35	CTCF	chr1:45671620-45671770	GM12864	blood:	n/a	n/a
36	CTCF	chr1:45671700-45671850	WERI-Rb-1	eye:	n/a	n/a
37	CTCF	chr1:45671405-45671423	MCF-7	breast:	n/a	n/a
38	CTCF	chr1:45671429-45671453	MCF-7	breast:	n/a	n/a
39	CTCF	chr1:45671798-45671864	Fibrobl	skin:	n/a	n/a
40	CTCF	chr1:45672216-45672266	MCF-7	breast:	n/a	n/a
41	CTCF	chr1:45671715-45671818	MCF-7	breast:	n/a	n/a
42	E2F4	chr1:45671769-45671826	MCF10A-Er-Src	breast:	n/a	n/a
43	E2F6	chr1:45671655-45671957	A549	lung:	n/a	chr1:45671696-45671707 chr1:45671708-45671720
44	E2F6	chr1:45671598-45671881	K562	blood:	n/a	chr1:45671696-45671707 chr1:45671708-45671720
45	E2F6	chr1:45671343-45672421	K562	blood:	n/a	chr1:45672052-45672062 chr1:45672049-45672059 chr1:45671696-45671707 chr1:45671708-45671720 chr1:45672103-45672112 chr1:45672130-45672139 chr1:45672239-45672248
46	E2F6	chr1:45671340-45672394	K562	blood:	n/a	chr1:45672052-45672062 chr1:45672049-45672059 chr1:45671696-45671707 chr1:45671708-45671720 chr1:45672103-45672112 chr1:45672130-45672139 chr1:45672239-45672248
47	E2F6	chr1:45671615-45672047	H1-hESC	embryonic stem cell:	n/a	chr1:45671696-45671707 chr1:45671708-45671720
48	E2F6	chr1:45671613-45672202	H1-hESC	embryonic stem cell:	n/a	chr1:45672052-45672062 chr1:45672049-45672059 chr1:45671696-45671707 chr1:45671708-45671720 chr1:45672103-45672112 chr1:45672130-45672139
49	E2F6	chr1:45671614-45672030	A549	lung:	n/a	chr1:45671696-45671707 chr1:45671708-45671720
50	E2F6	chr1:45672127-45672335	K562	blood:	n/a	chr1:45672130-45672139 chr1:45672239-45672248

(count:859 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:45672071-45672121	RPTEC	kidney:	n/a
2	chr1:45672409-45672459	HMEC	breast:	n/a
3	chr1:45672735-45672785	MCF10A-Er-Src	breast:	n/a
4	chr1:45671361-45671411	HPAEpiC	pulmonary alveolar:	n/a
5	chr1:45671665-45671715	ovcar-3	ovarian:	n/a
6	chr1:45672071-45672121	RPTEC	kidney:	n/a
7	chr1:45672409-45672459	HMEC	breast:	n/a
8	chr1:45672735-45672785	MCF10A-Er-Src	breast:	n/a
9	chr1:45671361-45671411	HPAEpiC	pulmonary alveolar:	n/a
10	chr1:45671665-45671715	ovcar-3	ovarian:	n/a
11	chr1:45672405-45672455	PFSK-1	brain:	n/a
12	chr1:45672074-45672124	GM19239	blood:	n/a
13	chr1:45671987-45672037	HUVEC	blood vessel:	n/a
14	chr1:45672071-45672121	HUVEC	blood vessel:	n/a
15	chr1:45671361-45671411	HUVEC	blood vessel:	n/a
16	chr1:45672848-45672898	SK-N-SH	brain:	n/a
17	chr1:45671665-45671715	HNPCEpiC	eye:	n/a
18	chr1:45672409-45672459	HEK293	kidney:	embryo
19	chr1:45672071-45672121	IMR90	lung:	fetal
20	chr1:45672409-45672459	BJ	skin:	n/a
21	chr1:45671659-45671709	HUVEC	blood vessel:	n/a
22	chr1:45672735-45672785	NHDF-neo	bronchial:	n/a
23	chr1:45671987-45672037	GM12878	blood:	n/a
24	chr1:45672071-45672121	AoSMC	blood vessel:	n/a
25	chr1:45672409-45672459	HCM	heart:	n/a
26	chr1:45671987-45672037	AoSMC	blood vessel:	n/a
27	chr1:45672848-45672898	PFSK-1	brain:	n/a
28	chr1:45672405-45672455	GM19239	blood:	n/a
29	chr1:45672383-45672433	ProgFib	skin:	n/a
30	chr1:45672524-45672574	HIPEpiC	eye:	n/a
31	chr1:45672735-45672785	HRPEpiC	eye:	n/a
32	chr1:45672616-45672666	PrEC	prostate:	n/a
33	chr1:45671987-45672037	IMR90	lung:	fetal
34	chr1:45672524-45672574	HCF	heart:	n/a
35	chr1:45672383-45672433	GM19239	blood:	n/a
36	chr1:45672383-45672433	HEK293	kidney:	embryo
37	chr1:45672074-45672124	HUVEC	blood vessel:	n/a
38	chr1:45672438-45672488	PFSK-1	brain:	n/a
39	chr1:45672524-45672574	Caco-2	colon:	n/a
40	chr1:45672409-45672459	AG04449	skin:	fetal
41	chr1:45672071-45672121	NB4	blood:	n/a
42	chr1:45672071-45672121	HRE	kidney:	n/a
43	chr1:45672405-45672455	SAEC	small airway:	n/a
44	chr1:45671659-45671709	AG10803	skin:	n/a
45	chr1:45672438-45672488	Caco-2	colon:	n/a
46	chr1:45672409-45672459	HEEpiC	esophagus:	n/a
47	chr1:45672848-45672898	RPTEC	kidney:	n/a
48	chr1:45672405-45672455	IMR90	lung:	fetal
49	chr1:45672071-45672121	HEK293	kidney:	embryo
50	chr1:45672074-45672124	HRPEpiC	eye:	n/a

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45283980..45286629-chr1:45670146..45671659,2	K562	blood:
2	chr1:45669107..45671536-chr1:45764944..45767322,2	K562	blood:
3	chr1:45671523..45672244-chr14:102552911..102553832,2	Hela-S3	cervix:
4	chr1:45671129..45671995-chr2:75061126..75061693,2	Hela-S3	cervix:
5	chr1:45665465..45667003-chr1:45668749..45671725,2	K562	blood:
6	chr1:45662426..45664020-chr1:45669808..45671855,2	MCF-7	breast:
7	chr1:45480075..45485962-chr1:45670647..45674355,5	MCF-7	breast:
8	chr1:45671664..45672380-chr14:21737105..21737971,2	Hela-S3	cervix:
9	chr1:45451641..45453252-chr1:45669605..45671686,2	MCF-7	breast:
10	chr1:45672068..45672603-chr3:150125909..150126562,2	Hela-S3	cervix:
11	chr1:45670063..45672201-chr1:45674093..45675823,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HPDL-1	chr1:45672409-45675890	NONHSAT002922
2	lnc-HPDL-1	chr1:45672404-45672689	XLOC_000167

No data

Variant related genes	Relation type
ZSWIM5	TF binding region
ZSWIM5	CpG island
ENSG00000202444	chromatin interactions
ENSG00000092199	chromatin interactions
ENSG00000126088	chromatin interactions
ENSG00000196428	chromatin interactions
ENSG00000070785	chromatin interactions
ENSG00000080824	chromatin interactions

Extended variants
information (count: 84 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545179437	chr1:45670793-45670794	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs78531701	chr1:45670810-45670811	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs112240827	chr1:45670836-45670837	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs576094017	chr1:45670846-45670847	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs113760063	chr1:45670943-45670944	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs376811018	chr1:45670945-45670946	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs565234240	chr1:45671002-45671003	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs527598307	chr1:45671112-45671113	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs142053101	chr1:45671182-45671183	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs114637184	chr1:45671210-45671211	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs377425475	chr1:45671226-45671227	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs190009802	chr1:45671277-45671278	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs150563926	chr1:45671328-45671329	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs182591317	chr1:45671361-45671362	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs371872676	chr1:45671372-45671373	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs200039649	chr1:45671391-45671392	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs377080712	chr1:45671392-45671393	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs202177076	chr1:45671417-45671418	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs369188483	chr1:45671458-45671459	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs370201420	chr1:45671523-45671524	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs377119690	chr1:45671527-45671528	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs534321494	chr1:45671528-45671529	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs188223265	chr1:45671599-45671600	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs565101218	chr1:45671664-45671665	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs567847058	chr1:45671673-45671674	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs373914497	chr1:45671704-45671705	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs201322031	chr1:45671736-45671737	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs370878178	chr1:45671764-45671765	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs537136157	chr1:45671790-45671791	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs199694108	chr1:45671808-45671809	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs201285093	chr1:45671816-45671817	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs576128858	chr1:45671840-45671841	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs375749403	chr1:45671907-45671908	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs538704614	chr1:45671910-45671911	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs376866321	chr1:45671915-45671916	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs138625094	chr1:45671943-45671944	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs4454584	chr1:45671966-45671967	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs541052542	chr1:45671969-45671970	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs561253795	chr1:45672054-45672055	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs11585584	chr1:45672090-45672091	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs149321998	chr1:45672130-45672131	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs563432245	chr1:45672181-45672182	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs532338200	chr1:45672190-45672191	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs552297366	chr1:45672384-45672385	Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs559163686	chr1:45672413-45672414	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
46	rs528121699	chr1:45672426-45672427	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
47	rs550614156	chr1:45672427-45672428	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
48	rs556808656	chr1:45672546-45672547	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
49	rs72684496	chr1:45672553-45672554	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs530097119	chr1:45672562-45672563	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	17603634	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	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
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Uveal melanoma	20484589	CNVD
Ovarian cancer	22174824	CNVD
Muscle-eye-brain disease	21572526	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20680643	CNVD
Colorectal cancer	19287155	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:429 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45660000-45670800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:45668000-45673800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:45668600-45672800	Active TSS	Fetal Brain Female	brain
4	chr1:45668800-45670800	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr1:45669000-45671000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr1:45669200-45670800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
7	chr1:45669200-45670800	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr1:45669400-45671000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:45669400-45671200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr1:45669400-45673200	Active TSS	Brain Angular Gyrus	brain
11	chr1:45669400-45673400	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr1:45669600-45670800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr1:45669600-45672600	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr1:45669800-45670800	Active TSS	HepG2	liver
15	chr1:45669800-45671000	Active TSS	Brain Germinal Matrix	brain
16	chr1:45670000-45670800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
17	chr1:45670000-45672600	Active TSS	Brain Anterior Caudate	brain
18	chr1:45670000-45672600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
19	chr1:45670000-45672800	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr1:45670000-45673200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:45670000-45673400	Active TSS	Ovary	ovary
22	chr1:45670200-45670800	Active TSS	Fetal Intestine Large	intestine
23	chr1:45670200-45671000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
24	chr1:45670200-45671200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:45670200-45671400	Active TSS	Fetal Brain Male	brain
26	chr1:45670200-45672600	Active TSS	Brain Cingulate Gyrus	brain
27	chr1:45670200-45672600	Active TSS	Brain Hippocampus Middle	brain
28	chr1:45670200-45672600	Active TSS	Duodenum Mucosa	Duodenum
29	chr1:45670200-45672800	Active TSS	Rectal Smooth Muscle	rectum
30	chr1:45670400-45671000	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr1:45670400-45671200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
32	chr1:45670400-45671400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
33	chr1:45670400-45672600	Active TSS	Stomach Smooth Muscle	stomach
34	chr1:45670400-45672600	Active TSS	Hela-S3	cervix
35	chr1:45670400-45673200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr1:45670600-45670800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
37	chr1:45670600-45670800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:45670600-45670800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr1:45670600-45670800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:45670600-45670800	Enhancers	Colon Smooth Muscle	Colon
41	chr1:45670600-45670800	Bivalent Enhancer	A549	lung
42	chr1:45670600-45671000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr1:45670600-45671000	Bivalent/Poised TSS	Small Intestine	intestine
44	chr1:45670600-45671200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
45	chr1:45670600-45671200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr1:45670600-45671200	Active TSS	Fetal Stomach	stomach
47	chr1:45670600-45671400	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr1:45670600-45671400	Active TSS	Right Atrium	heart
49	chr1:45670600-45671800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr1:45670600-45672600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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