Variant report

Variant	rs1974953
Chromosome Location	chr11:108887701-108887702
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1018227	0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs1018228	0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs10789704	0.81[AFR][1000 genomes]
rs10789710	0.92[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs10789711	0.91[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs10890922	0.87[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10890925	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10890926	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10890927	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10890928	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10890929	0.92[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10890936	0.87[CHB][hapmap];0.89[CHD][hapmap];0.83[JPT][hapmap];0.86[LWK][hapmap];0.84[MKK][hapmap];0.85[ASN][1000 genomes]
rs10890937	0.87[CHB][hapmap];0.91[CHD][hapmap];0.83[JPT][hapmap];0.86[LWK][hapmap];0.85[MKK][hapmap];0.85[ASN][1000 genomes]
rs10890938	0.84[ASN][1000 genomes]
rs10890939	0.82[ASN][1000 genomes]
rs10890940	0.85[ASN][1000 genomes]
rs11212849	0.85[AFR][1000 genomes]
rs11212856	0.92[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11212860	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11212868	0.85[ASN][1000 genomes]
rs11212869	0.87[CHB][hapmap];0.91[CHD][hapmap];0.83[JPT][hapmap];0.86[LWK][hapmap];0.83[MKK][hapmap];0.85[ASN][1000 genomes]
rs11212870	0.91[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs11212871	0.91[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs11212872	1.00[ASW][hapmap];0.87[CHB][hapmap];0.91[CHD][hapmap];0.83[JPT][hapmap];0.93[LWK][hapmap];0.94[MKK][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs11212873	0.91[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs11212874	0.91[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs11212879	0.80[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11212880	0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11501025	0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs12274468	0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs12361618	0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs12361808	0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12361907	0.85[ASN][1000 genomes]
rs12364782	0.85[ASN][1000 genomes]
rs12365008	0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs12576067	0.91[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12576075	0.88[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12576077	0.91[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12576105	0.91[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12577184	0.91[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs12798106	0.91[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs1396907	0.89[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs1396915	0.91[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs1828310	0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs1834457	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1834458	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1912233	0.92[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2059538	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2136531	0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2136535	0.92[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs2884182	0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs4133028	0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs57017030	0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs6589049	0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs6589050	0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7107024	0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7114056	0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7114217	0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7130960	0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7927335	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7939311	0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7939681	0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7944129	0.92[AFR][1000 genomes];0.87[ASN][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	nsv898389	chr11:108724639-108891986	Enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv1040650	chr11:108859584-109174553	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1974953	CASP5	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108885400-108887800	Enhancers	HUVEC	blood vessel
2	chr11:108886200-108887800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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