Variant report

Variant	rs7315504
Chromosome Location	chr12:29536504-29536505
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:29536486-29536536	ProgFib	skin:	n/a
2	chr12:29536486-29536536	SKMC	muscle:	n/a
3	chr12:29536486-29536536	HEEpiC	esophagus:	n/a
4	chr12:29536486-29536536	HPAEpiC	pulmonary alveolar:	n/a
5	chr12:29536486-29536536	HNPCEpiC	eye:	n/a
6	chr12:29536486-29536536	HIPEpiC	eye:	n/a
7	chr12:29536486-29536536	GM12878	blood:	n/a
8	chr12:29536486-29536536	K562	blood:	n/a
9	chr12:29536486-29536536	CMK	blood:	n/a
10	chr12:29536486-29536536	PFSK-1	brain:	n/a
11	chr12:29536486-29536536	HRCEpiC	kidney:	n/a
12	chr12:29536486-29536536	Hela-S3	cervix:	n/a
13	chr12:29536486-29536536	T-47D	breast:	n/a
14	chr12:29536486-29536536	RPTEC	kidney:	n/a
15	chr12:29536486-29536536	AG04449	skin:	fetal
16	chr12:29536486-29536536	AoSMC	blood vessel:	n/a
17	chr12:29536486-29536536	HEK293	kidney:	embryo
18	chr12:29536486-29536536	HCPEpiC	choroid plexus:	n/a
19	chr12:29536486-29536536	Hepatocyte	liver:	n/a
20	chr12:29536486-29536536	HUVEC	blood vessel:	n/a
21	chr12:29536486-29536536	ovcar-3	ovarian:	n/a
22	chr12:29536486-29536536	NH-A	brain:	n/a
23	chr12:29536486-29536536	HepG2	liver:	n/a
24	chr12:29536486-29536536	ECC-1	luminal epithelium:	n/a
25	chr12:29536486-29536536	SK-N-MC	brain:	n/a
26	chr12:29536486-29536536	SAEC	small airway:	n/a
27	chr12:29536486-29536536	HCM	heart:	n/a
28	chr12:29536486-29536536	A549	lung:	n/a
29	chr12:29536486-29536536	AG10803	skin:	n/a
30	chr12:29536486-29536536	HCT-116	colon:	n/a
31	chr12:29536486-29536536	NHBE	bronchial:	n/a
32	chr12:29536486-29536536	PANC-1	pancreas:	n/a
33	chr12:29536486-29536536	MCF10A-Er-Src	breast:	n/a
34	chr12:29536486-29536536	GM06990	blood:	n/a
35	chr12:29536486-29536536	HRE	kidney:	n/a
36	chr12:29536486-29536536	U87	brain:	n/a
37	chr12:29536486-29536536	HL-60	blood:	n/a
38	chr12:29536486-29536536	MCF-7	breast:	n/a
39	chr12:29536486-29536536	LNCaP	prostate:	n/a
40	chr12:29536486-29536536	NHDF-neo	bronchial:	n/a
41	chr12:29536486-29536536	Jurkat	blood:	n/a
42	chr12:29536486-29536536	BE2_C	brain:	n/a
43	chr12:29536486-29536536	Caco-2	colon:	n/a
44	chr12:29536486-29536536	NB4	blood:	n/a
45	chr12:29536486-29536536	BJ	skin:	n/a
46	chr12:29536486-29536536	GM19239	blood:	n/a
47	chr12:29536486-29536536	SK-N-SH_RA	brain:	n/a
48	chr12:29536486-29536536	HAEpiC	amniotic membrane:	n/a
49	chr12:29536486-29536536	AG09319	gingival:	n/a
50	chr12:29536486-29536536	NT2-D1	testis:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:29534214..29536521-chr12:29538492..29540922,3	K562	blood:

No data

Variant related genes	Relation type
ERGIC2	CpG island

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10082956	0.82[AFR][1000 genomes]
rs10128781	0.96[YRI][hapmap];0.82[AFR][1000 genomes]
rs1035606	0.95[YRI][hapmap];0.82[AFR][1000 genomes]
rs10743657	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10743658	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10843390	0.96[YRI][hapmap];0.82[AFR][1000 genomes]
rs10843391	0.81[YRI][hapmap];0.80[AFR][1000 genomes]
rs10843397	0.96[YRI][hapmap];0.86[AFR][1000 genomes]
rs10843398	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10843403	0.82[CEU][hapmap];0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10843407	0.80[ASN][1000 genomes]
rs11050203	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs11050209	0.83[AFR][1000 genomes]
rs1156242	0.82[AFR][1000 genomes]
rs12228468	0.95[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs12831751	0.91[YRI][hapmap];0.82[AFR][1000 genomes]
rs1989478	0.90[ASN][1000 genomes]
rs2194515	0.80[ASN][1000 genomes]
rs2278093	0.95[YRI][hapmap];0.84[AFR][1000 genomes]
rs2278094	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3782513	0.95[YRI][hapmap];0.83[AFR][1000 genomes]
rs3815843	0.83[YRI][hapmap]
rs3847678	0.95[CHB][hapmap];0.80[ASN][1000 genomes]
rs4931177	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4931178	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6487804	0.83[ASN][1000 genomes]
rs6487813	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6487815	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6487818	0.81[ASN][1000 genomes]
rs7139273	0.86[CHB][hapmap]
rs7297435	0.96[YRI][hapmap];0.83[AFR][1000 genomes]
rs7302557	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7311742	0.83[AFR][1000 genomes]
rs737160	0.90[CHB][hapmap];0.86[JPT][hapmap]
rs962866	0.86[CHB][hapmap]
rs9651802	0.82[AFR][1000 genomes]
rs966540	0.83[AFR][1000 genomes]
rs996498	0.95[YRI][hapmap];0.83[AFR][1000 genomes]
rs9989017	0.95[YRI][hapmap];0.83[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv995123	chr12:29095272-29571558	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 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	chr12:29534600-29536600	Weak transcription	HSMMtube	muscle
2	chr12:29535000-29537800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:29535000-29537800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:29535600-29542600	Weak transcription	Hela-S3	cervix
5	chr12:29535600-29543400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links