Variant report

Variant	rs11995824
Chromosome Location	chr8:120012700-120012701
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10091277	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10505351	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10955924	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13254554	0.84[EUR][1000 genomes]
rs13260214	0.85[EUR][1000 genomes]
rs13264172	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1485302	0.85[JPT][hapmap]
rs1485303	0.85[JPT][hapmap]
rs1485305	0.83[ASN][1000 genomes]
rs1485307	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1485310	0.92[ASN][1000 genomes]
rs1872422	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1872423	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1905783	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1905784	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2062376	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2062377	0.89[EUR][1000 genomes]
rs2220189	0.84[EUR][1000 genomes]
rs28437165	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28621599	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4273881	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4335155	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4403440	0.94[ASN][1000 genomes]
rs4403441	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4416847	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4424291	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4424296	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4495461	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4567065	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4587360	0.84[ASN][1000 genomes]
rs4615609	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4618726	0.84[EUR][1000 genomes]
rs6469792	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6469795	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6469797	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6993813	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7004052	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7010043	0.84[EUR][1000 genomes]
rs7013722	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7813486	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7824837	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7842942	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9650075	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[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	nsv868916	chr8:119911943-120762250	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758169	chr8:119943309-120275750	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	esv2759639	chr8:119943309-120275750	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv522241	chr8:119995697-120027871	Weak transcription Enhancers	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Bone mineral density (hip)	19801982	GWAS catalog

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:120007000-120013600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr8:120012000-120013000	Enhancers	Fetal Heart	heart
3	chr8:120012400-120012800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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