Variant report

Variant	rs2967511
Chromosome Location	chr19:36872816-36872817
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12461529	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12462725	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17206379	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2271842	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2385802	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2857	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2945955	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2945956	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2945989	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2967508	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2967514	0.84[AFR][1000 genomes]
rs2967516	0.84[ASN][1000 genomes]
rs2967519	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3098393	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3111555	0.85[ASN][1000 genomes]
rs3111556	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3810326	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56378871	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61706074	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62112567	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62112568	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62112569	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62112624	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62112631	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62112632	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62113869	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7253122	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73043845	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73043902	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8104241	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833816	chr19:36824257-37034287	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2967511	LINC00665	cis	Nerve Tibial	GTEx
rs2967511	LINC00665	cis	Skin Sun Exposed Lower leg	GTEx
rs2967511	LINC00665	cis	Muscle Skeletal	GTEx
rs2967511	ZNF545	Cis_1M	lymphoblastoid	RTeQTL
rs2967511	CTD-3162L10.1	cis	Nerve Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36870600-36874200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr19:36870600-36878200	Weak transcription	Fetal Brain Female	brain
3	chr19:36870600-36880400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr19:36870600-36880600	Weak transcription	Ovary	ovary
5	chr19:36870800-36878000	Weak transcription	Brain Germinal Matrix	brain
6	chr19:36870800-36882400	Weak transcription	Brain Inferior Temporal Lobe	brain

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