Variant report

Variant	rs1374995
Chromosome Location	chr12:86341764-86341765
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10047659	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10083080	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10746355	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10746356	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10746357	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10779218	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10779219	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10779222	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10779231	0.82[CEU][hapmap];0.84[YRI][hapmap]
rs10863115	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10863117	0.83[ASN][1000 genomes]
rs10863118	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10863119	0.83[ASN][1000 genomes]
rs10863120	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10863123	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10863135	0.81[CEU][hapmap];0.86[YRI][hapmap]
rs10863146	0.81[CEU][hapmap];0.94[GIH][hapmap];0.98[TSI][hapmap]
rs10863155	0.89[YRI][hapmap]
rs11117072	1.00[CHB][hapmap]
rs11117102	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11117108	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11117109	0.83[ASN][1000 genomes]
rs11117116	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11117117	0.83[ASN][1000 genomes]
rs11117119	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11117120	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11117121	0.81[ASN][1000 genomes]
rs11117123	0.86[ASN][1000 genomes]
rs11117125	0.89[ASN][1000 genomes]
rs11117128	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs11117131	1.00[CHB][hapmap]
rs11117146	0.81[CEU][hapmap];0.94[GIH][hapmap];0.98[TSI][hapmap]
rs11503287	0.87[ASN][1000 genomes]
rs11513957	0.81[CEU][hapmap];0.82[TSI][hapmap]
rs11834294	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11836175	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12099914	0.83[ASN][1000 genomes]
rs12231763	0.83[ASN][1000 genomes]
rs12301701	0.87[GIH][hapmap]
rs1448093	0.89[ASN][1000 genomes]
rs1448094	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1502800	0.87[GIH][hapmap]
rs1584367	0.86[ASN][1000 genomes]
rs2044617	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2044618	0.83[ASN][1000 genomes]
rs2044619	0.83[ASN][1000 genomes]
rs2121892	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2405789	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28509446	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4919775	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55811543	0.87[ASN][1000 genomes]
rs61929387	0.95[ASN][1000 genomes]
rs6539934	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6539935	0.85[CEU][hapmap];0.94[GIH][hapmap];0.85[MKK][hapmap];0.98[TSI][hapmap];0.93[YRI][hapmap]
rs6539942	0.86[YRI][hapmap]
rs7133797	0.88[ASN][1000 genomes]
rs7134915	0.83[ASN][1000 genomes]
rs7137122	0.87[ASN][1000 genomes]
rs7301280	0.86[YRI][hapmap]
rs7301496	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7305284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7305869	0.81[CEU][hapmap];0.94[GIH][hapmap];0.88[MKK][hapmap];0.98[TSI][hapmap];0.82[YRI][hapmap]
rs7305873	0.87[ASN][1000 genomes]
rs7313373	0.81[CEU][hapmap];0.94[GIH][hapmap];0.84[MKK][hapmap];0.98[TSI][hapmap];0.86[YRI][hapmap]
rs7313442	0.81[CEU][hapmap];0.94[GIH][hapmap];0.84[MKK][hapmap];0.98[TSI][hapmap];0.93[YRI][hapmap]
rs7313443	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7314272	0.81[CEU][hapmap];0.94[GIH][hapmap];0.84[MKK][hapmap];0.98[TSI][hapmap];0.86[YRI][hapmap]
rs73382010	0.89[ASN][1000 genomes]
rs7397730	0.94[GIH][hapmap];0.98[TSI][hapmap]
rs7955173	0.81[YRI][hapmap]
rs7958677	0.87[ASN][1000 genomes]
rs7960313	0.83[ASN][1000 genomes]
rs7966131	0.83[GIH][hapmap];0.82[TSI][hapmap]
rs7966352	0.94[GIH][hapmap];0.88[MKK][hapmap];0.98[TSI][hapmap];0.82[YRI][hapmap]
rs7972238	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7974794	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7975457	0.81[CEU][hapmap];0.94[GIH][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap];0.93[YRI][hapmap]
rs7978132	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7978562	0.94[GIH][hapmap];0.83[MKK][hapmap];0.95[TSI][hapmap];0.82[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049179	chr12:86056376-86799188	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv1797806	chr12:86198935-86425608	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv559667	chr12:86318004-86416212	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86339800-86342800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:86340800-86342200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr12:86341000-86342000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr12:86341000-86342800	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr12:86341200-86341800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr12:86341200-86342800	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr12:86341400-86341800	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr12:86341400-86341800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:86341400-86342400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:86341400-86342800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr12:86341600-86342600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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