Variant report

Variant	rs1991288
Chromosome Location	chr15:72975909-72975910
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:72975141-72977927	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:72975894-72975944	HAEpiC	amniotic membrane:	n/a
2	chr15:72975894-72975944	MCF-7	breast:	n/a
3	chr15:72975894-72975944	HL-60	blood:	n/a
4	chr15:72975894-72975944	PFSK-1	brain:	n/a
5	chr15:72975894-72975944	BE2_C	brain:	n/a
6	chr15:72975894-72975944	BJ	skin:	n/a
7	chr15:72975894-72975944	NHBE	bronchial:	n/a
8	chr15:72975894-72975944	HPAEpiC	pulmonary alveolar:	n/a
9	chr15:72975894-72975944	AG09319	gingival:	n/a
10	chr15:72975894-72975944	CMK	blood:	n/a
11	chr15:72975894-72975944	Hela-S3	cervix:	n/a
12	chr15:72975894-72975944	Caco-2	colon:	n/a
13	chr15:72975894-72975944	SKMC	muscle:	n/a
14	chr15:72975894-72975944	HUVEC	blood vessel:	n/a
15	chr15:72975894-72975944	HNPCEpiC	eye:	n/a
16	chr15:72975894-72975944	GM12891	blood:	n/a
17	chr15:72975894-72975944	AG04449	skin:	fetal
18	chr15:72975894-72975944	HMEC	breast:	n/a
19	chr15:72975894-72975944	NH-A	brain:	n/a
20	chr15:72975894-72975944	SK-N-SH	brain:	n/a
21	chr15:72975894-72975944	PANC-1	pancreas:	n/a
22	chr15:72975894-72975944	GM12878	blood:	n/a
23	chr15:72975894-72975944	A549	lung:	n/a
24	chr15:72975894-72975944	AG04450	lung:	fetal
25	chr15:72975894-72975944	LNCaP	prostate:	n/a
26	chr15:72975894-72975944	HepG2	liver:	n/a
27	chr15:72975894-72975944	GM19239	blood:	n/a
28	chr15:72975894-72975944	SK-N-SH_RA	brain:	n/a
29	chr15:72975894-72975944	ECC-1	luminal epithelium:	n/a
30	chr15:72975894-72975944	T-47D	breast:	n/a
31	chr15:72975894-72975944	NB4	blood:	n/a
32	chr15:72975894-72975944	NHDF-neo	bronchial:	n/a
33	chr15:72975894-72975944	ProgFib	skin:	n/a
34	chr15:72975894-72975944	ovcar-3	ovarian:	n/a
35	chr15:72975894-72975944	Hepatocyte	liver:	n/a
36	chr15:72975894-72975944	NT2-D1	testis:	n/a
37	chr15:72975894-72975944	HCPEpiC	choroid plexus:	n/a
38	chr15:72975894-72975944	SK-N-MC	brain:	n/a
39	chr15:72975894-72975944	HRPEpiC	eye:	n/a
40	chr15:72975894-72975944	U87	brain:	n/a
41	chr15:72975894-72975944	AG09309	skin:	n/a
42	chr15:72975894-72975944	HEEpiC	esophagus:	n/a
43	chr15:72975894-72975944	HRCEpiC	kidney:	n/a
44	chr15:72975894-72975944	GM12892	blood:	n/a
45	chr15:72975894-72975944	HCF	heart:	n/a
46	chr15:72975894-72975944	SAEC	small airway:	n/a
47	chr15:72975894-72975944	HCT-116	colon:	n/a
48	chr15:72975894-72975944	IMR90	lung:	fetal
49	chr15:72975894-72975944	PrEC	prostate:	n/a
50	chr15:72975894-72975944	H1-hESC	embryonic stem cell:	embryo

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:72972683..72975253-chr15:72975906..72977855,2	MCF-7	breast:

No data

Variant related genes	Relation type
BBS4	TF binding region
ENSG00000261281	TF binding region
ENSG00000261281	CpG island
BBS4	CpG island
ENSG00000261281	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11072381	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11072382	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11634630	0.87[AFR][1000 genomes]
rs12324395	0.89[AFR][1000 genomes]
rs12902880	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12903320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12914333	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3862416	0.87[AMR][1000 genomes]
rs4238454	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4274404	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4776610	0.87[AMR][1000 genomes]
rs4777527	0.87[AMR][1000 genomes]
rs6495014	0.87[AMR][1000 genomes]
rs7182527	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7182789	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8033604	0.87[AMR][1000 genomes]
rs8038907	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8039792	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs893454	0.87[AMR][1000 genomes]
rs9806635	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9806649	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9806685	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758386	chr15:72819785-73120560	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	esv2760039	chr15:72819785-73120560	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv428307	chr15:72819785-73120560	Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	esv3430383	chr15:72821093-73035167	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	esv2763105	chr15:72975344-72978616	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72963800-72977600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:72973200-72977400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr15:72973600-72977600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr15:72975600-72977400	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr15:72975600-72977400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links