Variant report

Variant	esv3342886
Chromosome Location	chr15:59663285-59665833
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:457)
CpG islands
(count:794)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:457 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr15:59664600-59665419	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr15:59664798-59665465	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr15:59664578-59665401	GM12878	blood:	n/a	n/a
4	ATF3	chr15:59664760-59665295	A549	lung:	n/a	n/a
5	ATF3	chr15:59664765-59665491	A549	lung:	n/a	n/a
6	BCL3	chr15:59664819-59665812	A549	lung:	n/a	n/a
7	BCL3	chr15:59664666-59665838	A549	lung:	n/a	chr15:59664729-59664742
8	BCLAF1	chr15:59662468-59663432	GM12878	blood:	n/a	n/a
9	BCLAF1	chr15:59664362-59665361	GM12878	blood:	n/a	chr15:59664729-59664742 chr15:59664605-59664618
10	BHLHE40	chr15:59664843-59665811	HepG2	liver:	n/a	n/a
11	BHLHE40	chr15:59663764-59665849	GM12878	blood:	n/a	chr15:59664075-59664091 chr15:59664192-59664208 chr15:59664333-59664349 chr15:59664294-59664310
12	BHLHE40	chr15:59665514-59665804	A549	lung:	n/a	n/a
13	BRCA1	chr15:59664852-59665560	Hela-S3	cervix:	n/a	n/a
14	BRCA1	chr15:59664855-59665055	H1-hESC	embryonic stem cell:	n/a	n/a
15	BRCA1	chr15:59664531-59664650	GM12878	blood:	n/a	n/a
16	CEBPB	chr15:59664834-59665394	Hela-S3	cervix:	n/a	chr15:59665193-59665205
17	CEBPD	chr15:59664832-59665142	HepG2	liver:	n/a	n/a
18	CHD1	chr15:59663453-59665445	GM12878	blood:	n/a	chr15:59663981-59663991 chr15:59665224-59665234
19	CHD1	chr15:59663873-59665796	H1-hESC	embryonic stem cell:	n/a	chr15:59663981-59663991 chr15:59665224-59665234
20	CHD2	chr15:59663848-59664055	Hela-S3	cervix:	n/a	chr15:59663981-59663991
21	CHD2	chr15:59664708-59665423	H1-hESC	embryonic stem cell:	n/a	chr15:59665224-59665234
22	CHD2	chr15:59664389-59665421	Hela-S3	cervix:	n/a	chr15:59665224-59665234
23	CHD2	chr15:59664328-59665232	GM12878	blood:	n/a	n/a
24	CHD2	chr15:59664536-59665278	HepG2	liver:	n/a	chr15:59665224-59665234
25	CREB1	chr15:59664563-59665331	A549	lung:	n/a	n/a
26	CREB1	chr15:59664916-59665323	A549	lung:	n/a	n/a
27	CREB1	chr15:59664714-59665438	H1-hESC	embryonic stem cell:	n/a	n/a
28	CREB1	chr15:59664326-59665470	H1-hESC	embryonic stem cell:	n/a	n/a
29	CREB1	chr15:59664725-59665445	ECC-1	luminal epithelium:	n/a	n/a
30	CREB1	chr15:59664620-59665467	ECC-1	luminal epithelium:	n/a	n/a
31	CREB1	chr15:59664240-59665369	GM12878	blood:	n/a	n/a
32	CREB1	chr15:59664467-59665482	HepG2	liver:	n/a	n/a
33	CREB1	chr15:59664629-59665479	HepG2	liver:	n/a	n/a
34	CTCF	chr15:59664081-59664088	GM12891	blood:	n/a	n/a
35	CTCF	chr15:59664040-59664190	SAEC	small airway:	n/a	chr15:59664102-59664115
36	CTCF	chr15:59664094-59664132	GM12892	blood:	n/a	chr15:59664102-59664115
37	CTCF	chr15:59665080-59665230	AG09319	gingival:	n/a	n/a
38	CTCF	chr15:59665080-59665230	HAc	cerebellar:	n/a	n/a
39	CTCF	chr15:59663840-59663990	AG04449	skin:	n/a	n/a
40	CTCF	chr15:59663960-59664110	GM12875	blood:	n/a	n/a
41	CTCF	chr15:59664080-59664370	GM12868	blood:	n/a	chr15:59664298-59664311 chr15:59664102-59664115
42	CTCF	chr15:59664020-59664170	GM12865	blood:	n/a	chr15:59664102-59664115
43	CTCF	chr15:59664096-59664143	LNCaP	prostate:	n/a	chr15:59664102-59664115
44	CTCF	chr15:59664080-59664109	MCF-7	breast:	n/a	n/a
45	CTCF	chr15:59664070-59664076	GM12878	blood:	n/a	n/a
46	CTCF	chr15:59664200-59664350	GM12867	blood:	n/a	chr15:59664298-59664311
47	CTCF	chr15:59663980-59664130	HMEC	breast:	n/a	chr15:59664102-59664115
48	CTCF	chr15:59664321-59664404	GM19239	blood:	n/a	chr15:59664359-59664372
49	CTCF	chr15:59664089-59664131	NHEK	skin:	n/a	chr15:59664102-59664115
50	CTCF	chr15:59665200-59665350	HCPEpiC	choroid plexus:	n/a	n/a

(count:794 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:59664346-59664396	HPAEpiC	pulmonary alveolar:	n/a
2	chr15:59664346-59664396	HPAEpiC	pulmonary alveolar:	n/a
3	chr15:59665250-59665300	HCM	heart:	n/a
4	chr15:59664346-59664396	ECC-1	luminal epithelium:	n/a
5	chr15:59664952-59665002	LNCaP	prostate:	n/a
6	chr15:59665308-59665358	ovcar-3	ovarian:	n/a
7	chr15:59665145-59665195	HNPCEpiC	eye:	n/a
8	chr15:59664952-59665002	HCPEpiC	choroid plexus:	n/a
9	chr15:59665145-59665195	BE2_C	brain:	n/a
10	chr15:59664346-59664396	ProgFib	skin:	n/a
11	chr15:59665233-59665283	HCT-116	colon:	n/a
12	chr15:59664346-59664396	HepG2	liver:	n/a
13	chr15:59665250-59665300	HUVEC	blood vessel:	n/a
14	chr15:59664799-59664849	PANC-1	pancreas:	n/a
15	chr15:59665250-59665300	NHDF-neo	bronchial:	n/a
16	chr15:59664952-59665002	GM19239	blood:	n/a
17	chr15:59665308-59665358	ECC-1	luminal epithelium:	n/a
18	chr15:59665233-59665283	AG10803	skin:	n/a
19	chr15:59664346-59664396	PANC-1	pancreas:	n/a
20	chr15:59663987-59664037	GM06990	blood:	n/a
21	chr15:59665080-59665130	HepG2	liver:	n/a
22	chr15:59665233-59665283	AG09319	gingival:	n/a
23	chr15:59664346-59664396	AoSMC	blood vessel:	n/a
24	chr15:59664346-59664396	HIPEpiC	eye:	n/a
25	chr15:59665233-59665283	ECC-1	luminal epithelium:	n/a
26	chr15:59664324-59664374	Hela-S3	cervix:	n/a
27	chr15:59665080-59665130	BJ	skin:	n/a
28	chr15:59665080-59665130	HCPEpiC	choroid plexus:	n/a
29	chr15:59664907-59664957	H1-hESC	embryonic stem cell:	embryo
30	chr15:59665231-59665281	HNPCEpiC	eye:	n/a
31	chr15:59665145-59665195	NB4	blood:	n/a
32	chr15:59663987-59664037	PFSK-1	brain:	n/a
33	chr15:59665080-59665130	SK-N-SH	brain:	n/a
34	chr15:59665285-59665335	IMR90	lung:	fetal
35	chr15:59665145-59665195	NH-A	brain:	n/a
36	chr15:59664799-59664849	ECC-1	luminal epithelium:	n/a
37	chr15:59664952-59665002	BJ	skin:	n/a
38	chr15:59663987-59664037	HCPEpiC	choroid plexus:	n/a
39	chr15:59664324-59664374	AG04450	lung:	fetal
40	chr15:59664952-59665002	AG04450	lung:	fetal
41	chr15:59664799-59664849	HRE	kidney:	n/a
42	chr15:59665145-59665195	Jurkat	blood:	n/a
43	chr15:59664799-59664849	HEK293	kidney:	embryo
44	chr15:59664952-59665002	AG09319	gingival:	n/a
45	chr15:59664952-59665002	HMEC	breast:	n/a
46	chr15:59665285-59665335	HPAEpiC	pulmonary alveolar:	n/a
47	chr15:59665233-59665283	Hepatocyte	liver:	n/a
48	chr15:59663987-59664037	Jurkat	blood:	n/a
49	chr15:59665080-59665130	NT2-D1	testis:	n/a
50	chr15:59664799-59664849	A549	lung:	n/a

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:59665232..59666166-chr5:36875918..36876809,2	Hela-S3	cervix:
2	chr15:59664529..59665177-chr16:31191414..31192084,2	Hela-S3	cervix:
3	chr12:85673846..85674381-chr15:59664602..59665102,2	Hela-S3	cervix:
4	chr15:59518511..59521491-chr15:59664302..59666468,2	MCF-7	breast:
5	chr15:45003542..45004263-chr15:59664269..59664993,2	Hela-S3	cervix:
6	chr15:59663653..59664227-chr16:31191459..31192395,2	Hela-S3	cervix:
7	chr1:207494955..207495711-chr15:59663350..59664088,2	Hela-S3	cervix:
8	chr15:59664310..59665106-chr17:42276644..42277426,2	Hela-S3	cervix:
9	chr15:59662898..59664919-chr15:59728478..59730904,2	MCF-7	breast:
10	chr15:59664589..59665526-chr2:85132370..85133293,2	Hela-S3	cervix:
11	chr15:59665077..59665732-chr9:127703217..127703831,2	Hela-S3	cervix:
12	chr15:59664651..59665302-chr16:90039034..90039699,2	HCT-116	colon:
13	chr1:247170765..247171326-chr15:59664652..59665258,2	Hela-S3	cervix:
14	chr12:57118800..57119549-chr15:59664948..59665732,2	Hela-S3	cervix:
15	chr15:59664607..59665354-chr16:69759970..69760751,2	Hela-S3	cervix:
16	chr15:59664953..59665488-chrX:56589789..56590649,2	Hela-S3	cervix:
17	chr15:59664611..59665186-chr19:55987872..55988397,2	Hela-S3	cervix:
18	chr15:59664475..59665085-chr9:128469406..128470126,2	Hela-S3	cervix:
19	chr15:59664817..59665719-chr5:43017980..43018660,2	Hela-S3	cervix:
20	chr15:59567773..59570497-chr15:59662817..59664503,2	MCF-7	breast:
21	chr15:59664159..59664700-chr5:72251889..72252399,2	Hela-S3	cervix:
22	chr14:59950582..59951281-chr15:59664706..59665281,2	Hela-S3	cervix:
23	chr1:27022084..27022664-chr15:59664879..59665579,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
MYO1E	TF binding region
FAM81A	TF binding region
MYO1E	CpG island
FAM81A	CpG island
ENSG00000197472	chromatin interactions
ENSG00000050130	chromatin interactions
ENSG00000166710	chromatin interactions
ENSG00000087152	chromatin interactions
ENSG00000251131	chromatin interactions
ENSG00000034510	chromatin interactions
ENSG00000180318	chromatin interactions
ENSG00000126790	chromatin interactions
ENSG00000188021	chromatin interactions
ENSG00000223959	chromatin interactions
ENSG00000157470	chromatin interactions
ENSG00000181019	chromatin interactions
ENSG00000196352	chromatin interactions
ENSG00000119487	chromatin interactions
ENSG00000157483	chromatin interactions
ENSG00000157107	chromatin interactions
ENSG00000136935	chromatin interactions
ENSG00000117713	chromatin interactions
ENSG00000089280	chromatin interactions
ENSG00000197483	chromatin interactions
ENSG00000196531	chromatin interactions

Extended variants
information (count: 160 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:160 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181736722	chr15:59663302-59663303	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs74017758	chr15:59663367-59663368	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs186450590	chr15:59663395-59663396	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs189670795	chr15:59663418-59663419	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs11071432	chr15:59663443-59663444	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs556344820	chr15:59663460-59663461	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs568115541	chr15:59663468-59663469	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs138416232	chr15:59663477-59663478	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs373084516	chr15:59663484-59663485	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs370667442	chr15:59663523-59663524	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs375274979	chr15:59663567-59663568	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs143804213	chr15:59663571-59663572	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs545812638	chr15:59663574-59663575	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs118002471	chr15:59663579-59663580	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs371382778	chr15:59663594-59663595	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs576075104	chr15:59663618-59663619	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs543364825	chr15:59663619-59663620	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs561852282	chr15:59663632-59663633	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs66673127	chr15:59663634-59663635	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs200599763	chr15:59663677-59663678	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs541631050	chr15:59663721-59663722	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs559723665	chr15:59663732-59663733	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs529337577	chr15:59663757-59663758	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs533557396	chr15:59663773-59663774	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs552146002	chr15:59663779-59663780	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs182698970	chr15:59663783-59663784	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs6494103	chr15:59663804-59663805	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs549757602	chr15:59663829-59663830	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs371821804	chr15:59663834-59663835	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs535175276	chr15:59663840-59663841	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs6494104	chr15:59663852-59663853	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs377402640	chr15:59663872-59663873	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs565775789	chr15:59663902-59663903	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs539616925	chr15:59663948-59663949	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs559804113	chr15:59663955-59663956	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs557632929	chr15:59663961-59663962	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs575889251	chr15:59663963-59663964	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs537060862	chr15:59663970-59663971	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs368076974	chr15:59663976-59663977	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs146391769	chr15:59664052-59664053	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs573953876	chr15:59664083-59664084	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs375234835	chr15:59664118-59664119	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs541203938	chr15:59664215-59664216	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs559791108	chr15:59664305-59664306	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs542536325	chr15:59664311-59664312	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs369763581	chr15:59664384-59664385	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs578146505	chr15:59664394-59664395	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs545574773	chr15:59664403-59664404	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs563980647	chr15:59664405-59664406	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs531197586	chr15:59664406-59664407	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Mental retardation	17124404	CNVD
Gastrointestinal stromal cancer	20877625	CNVD

Chromatin state (count:352 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59649000-59663400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:59650600-59663400	Weak transcription	Fetal Stomach	stomach
3	chr15:59653400-59663400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr15:59659800-59663400	Weak transcription	Ovary	ovary
5	chr15:59659800-59663400	Weak transcription	Small Intestine	intestine
6	chr15:59660000-59663600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr15:59661200-59663400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr15:59661400-59663400	Enhancers	Primary B cells from peripheral blood	blood
9	chr15:59661600-59663400	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr15:59661600-59663400	Flanking Active TSS	HMEC	breast
11	chr15:59662000-59663400	Enhancers	Placenta	Placenta
12	chr15:59662000-59663600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr15:59662000-59666000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr15:59662200-59663400	Enhancers	Pancreas	Pancrea
15	chr15:59662200-59663400	Enhancers	Stomach Mucosa	stomach
16	chr15:59662200-59663600	Enhancers	Lung	lung
17	chr15:59662200-59663800	Enhancers	Spleen	Spleen
18	chr15:59662200-59665800	Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr15:59662600-59663400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr15:59662600-59663400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr15:59662600-59663400	Enhancers	Gastric	stomach
22	chr15:59662600-59663400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
23	chr15:59662600-59663600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr15:59662600-59663600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr15:59662600-59663600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr15:59662600-59663600	Flanking Active TSS	Osteobl	bone
27	chr15:59662600-59663800	Flanking Active TSS	HUVEC	blood vessel
28	chr15:59662600-59664000	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr15:59662600-59665800	Active TSS	NHLF	lung
30	chr15:59662600-59666000	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr15:59662600-59666000	Active TSS	Rectal Smooth Muscle	rectum
32	chr15:59662600-59666200	Active TSS	Colonic Mucosa	Colon
33	chr15:59662600-59666600	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr15:59662600-59667600	Active TSS	GM12878-XiMat	blood
35	chr15:59662800-59663400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr15:59662800-59663400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
37	chr15:59662800-59663400	Active TSS	Stomach Smooth Muscle	stomach
38	chr15:59662800-59663400	Enhancers	HepG2	liver
39	chr15:59662800-59663400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
40	chr15:59662800-59663600	Transcr. at gene 5' and 3'	Hela-S3	cervix
41	chr15:59662800-59663600	Flanking Active TSS	NH-A	brain
42	chr15:59662800-59663800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr15:59662800-59665600	Active TSS	Fetal Intestine Large	intestine
44	chr15:59662800-59665800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr15:59662800-59665800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr15:59662800-59665800	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr15:59662800-59665800	Active TSS	Left Ventricle	heart
48	chr15:59662800-59666000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr15:59662800-59666000	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr15:59662800-59666200	Active TSS	Fetal Intestine Small	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links