Variant report

Variant	rs1971838
Chromosome Location	chr4:80418631-80418632
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10021556	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10025630	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10027904	0.87[ASN][1000 genomes]
rs1031005	0.82[CEU][hapmap];0.91[JPT][hapmap]
rs1074134	0.96[ASN][1000 genomes]
rs11098770	0.86[CHD][hapmap];0.91[JPT][hapmap]
rs1115518	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];0.91[JPT][hapmap]
rs1115519	0.89[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs11736348	0.96[ASN][1000 genomes]
rs11936123	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12501981	0.86[JPT][hapmap]
rs12506212	0.91[ASN][1000 genomes]
rs12511890	0.96[ASN][1000 genomes]
rs12643491	0.90[JPT][hapmap]
rs13111877	0.96[ASN][1000 genomes]
rs13118924	0.95[ASN][1000 genomes]
rs13128134	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13146986	0.88[CHD][hapmap];0.91[JPT][hapmap]
rs1440860	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1440861	0.96[ASN][1000 genomes]
rs1440862	0.96[ASN][1000 genomes]
rs1440863	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1440866	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1561638	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1561639	0.96[ASN][1000 genomes]
rs1561640	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1899232	0.96[ASN][1000 genomes]
rs1992367	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2119419	0.91[ASN][1000 genomes]
rs2119420	0.91[ASN][1000 genomes]
rs2119421	0.81[ASN][1000 genomes]
rs3943669	0.90[JPT][hapmap]
rs4975052	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4975089	0.89[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs723243	0.96[ASN][1000 genomes]
rs723245	0.96[ASN][1000 genomes]
rs7655446	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7663844	0.96[ASN][1000 genomes]
rs7670107	0.96[ASN][1000 genomes]
rs7684683	0.96[ASN][1000 genomes]
rs7690520	0.94[ASN][1000 genomes]
rs7691021	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7691868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7691918	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs880988	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9307532	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9307545	0.88[CHD][hapmap];0.91[JPT][hapmap]
rs998437	0.94[ASN][1000 genomes]
rs9993773	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999174	chr4:80212935-80512356	Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv879506	chr4:80316417-80604625	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv879507	chr4:80365765-80552199	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv879508	chr4:80398708-80552199	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1971838	LINC00989	cis	Skin Sun Exposed Lower leg	GTEx
rs1971838	PPEF2	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:80413600-80419800	Active TSS	Right Atrium	heart
2	chr4:80417000-80419000	Weak transcription	Adipose Nuclei	Adipose
3	chr4:80417000-80421000	Weak transcription	Left Ventricle	heart
4	chr4:80418200-80418800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:80418200-80418800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr4:80418200-80419200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links