Variant report

Variant	rs754562
Chromosome Location	chr11:106005901-106005902
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10791780	0.80[CHB][hapmap]
rs10895899	0.88[ASN][1000 genomes]
rs10895900	0.95[CHB][hapmap];1.00[CHD][hapmap];0.91[JPT][hapmap]
rs10895904	0.89[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs11226915	0.90[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs11226922	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.88[MKK][hapmap];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11226931	0.90[ASN][1000 genomes]
rs12365489	0.80[CHB][hapmap]
rs17105049	0.95[CHB][hapmap];0.92[CHD][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs1893174	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs1939798	0.89[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs1939799	0.89[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.80[MEX][hapmap];0.91[ASN][1000 genomes]
rs1940772	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2155340	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.80[MEX][hapmap];0.89[ASN][1000 genomes]
rs2186731	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.80[MEX][hapmap];0.89[ASN][1000 genomes]
rs2277278	0.86[ASN][1000 genomes]
rs3740869	0.90[CHB][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs4237618	0.85[CHB][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs4440991	0.90[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs4474407	0.80[CHB][hapmap]
rs4565867	0.88[ASN][1000 genomes]
rs4754141	0.89[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs60606604	0.86[ASN][1000 genomes]
rs7130759	0.86[ASN][1000 genomes]
rs7131047	0.89[ASN][1000 genomes]
rs7554	0.80[CHB][hapmap]
rs766717	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs9651674	0.81[JPT][hapmap]
rs9943677	0.89[ASN][1000 genomes]

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	nsv1048381	chr11:105945117-106561574	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv898358	chr11:105999580-106182251	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv430428	chr11:106005901-106173046	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs754562	KBTBD3	cis	lymphoblastoid	seeQTL
rs754562	AASDHPPT	cis	multi-tissue	Pritchard
rs754562	AASDHPPT	cis	lymphoblastoid	seeQTL
rs754562	KDELC2	cis	cerebellum	SCAN

Chromatin state (count:0 , 50 per page) page:

No data

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