Variant report

Variant	rs11707696
Chromosome Location	chr3:158043023-158043024
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1070894	0.82[ASN][1000 genomes]
rs10936129	0.81[AFR][1000 genomes]
rs1095629	0.84[ASN][1000 genomes]
rs1095630	0.80[ASN][1000 genomes]
rs1095633	0.82[ASN][1000 genomes]
rs1095634	0.82[ASN][1000 genomes]
rs11719388	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1210358	0.96[ASN][1000 genomes]
rs1724676	0.86[ASN][1000 genomes]
rs1724677	0.86[ASN][1000 genomes]
rs1730054	0.86[ASN][1000 genomes]
rs2693528	0.95[ASN][1000 genomes]
rs2693541	0.94[ASN][1000 genomes]
rs4680426	0.81[AFR][1000 genomes]
rs57361244	0.85[ASN][1000 genomes]
rs6772340	0.81[AFR][1000 genomes]
rs698990	0.86[ASN][1000 genomes]
rs698991	0.86[ASN][1000 genomes]
rs699916	0.82[ASN][1000 genomes]
rs699917	0.82[ASN][1000 genomes]
rs699919	0.81[ASN][1000 genomes]
rs73168795	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7614091	0.88[ASN][1000 genomes]
rs7617666	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7621889	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs827090	0.87[ASN][1000 genomes]
rs827091	0.86[ASN][1000 genomes]
rs827118	0.96[ASN][1000 genomes]
rs827120	0.96[ASN][1000 genomes]
rs827122	0.86[ASN][1000 genomes]
rs827123	0.86[ASN][1000 genomes]
rs827125	0.86[ASN][1000 genomes]
rs827136	0.92[ASN][1000 genomes]
rs827172	0.82[ASN][1000 genomes]
rs827187	0.96[ASN][1000 genomes]
rs827188	0.96[ASN][1000 genomes]
rs9814827	0.86[ASN][1000 genomes]
rs9845388	0.93[EUR][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	nsv1013391	chr3:157505943-158115553	Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv536775	chr3:157505943-158115553	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1002378	chr3:157715428-158673414	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv877689	chr3:157858930-158133307	Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv916910	chr3:157926799-158183372	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11707696	RSRC1	cis	Skin Sun Exposed Lower leg	GTEx
rs11707696	RP11-538P18.2	cis	Skin Sun Exposed Lower leg	GTEx
rs11707696	RSRC1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:157993400-158054600	Weak transcription	Primary T cells from cord blood	blood
2	chr3:158035600-158047400	Weak transcription	Left Ventricle	heart
3	chr3:158041600-158043200	Weak transcription	Monocytes-CD14+_RO01746	blood

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