Variant report

Variant	rs624694
Chromosome Location	chr5:111272696-111272697
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10045865	0.80[EUR][1000 genomes]
rs10059738	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10063079	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10463623	1.00[CHB][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs10463624	0.91[CHB][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs11241146	1.00[CHB][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs12187919	0.82[AMR][1000 genomes]
rs13160727	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13169766	0.88[ASN][1000 genomes]
rs13188104	0.80[EUR][1000 genomes]
rs1493453	0.93[ASN][1000 genomes]
rs1494585	0.94[ASN][1000 genomes]
rs1994871	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2047070	0.95[CHB][hapmap];0.85[JPT][hapmap];0.91[ASN][1000 genomes]
rs2048155	0.91[CHB][hapmap];0.92[ASN][1000 genomes]
rs255928	0.84[ASN][1000 genomes]
rs255929	0.81[ASN][1000 genomes]
rs25791	0.80[EUR][1000 genomes]
rs25795	0.89[CEU][hapmap]
rs26539	0.85[ASN][1000 genomes]
rs26540	0.84[ASN][1000 genomes]
rs26541	0.85[ASN][1000 genomes]
rs26542	0.85[ASN][1000 genomes]
rs26543	0.91[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs26545	0.92[ASN][1000 genomes]
rs26557	0.87[ASN][1000 genomes]
rs26558	0.87[ASN][1000 genomes]
rs26559	0.84[ASN][1000 genomes]
rs26560	0.84[ASN][1000 genomes]
rs26561	0.84[ASN][1000 genomes]
rs26562	0.84[ASN][1000 genomes]
rs26563	0.84[ASN][1000 genomes]
rs27535	0.85[ASN][1000 genomes]
rs34924	0.92[CHB][hapmap];0.85[JPT][hapmap];0.88[ASN][1000 genomes]
rs34928	0.92[ASN][1000 genomes]
rs34930	0.92[ASN][1000 genomes]
rs34931	0.92[ASN][1000 genomes]
rs34941	0.81[ASN][1000 genomes]
rs34942	0.91[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs35303575	0.93[ASN][1000 genomes]
rs35658682	0.94[ASN][1000 genomes]
rs36061964	0.88[ASN][1000 genomes]
rs36069145	0.94[ASN][1000 genomes]
rs36133922	0.93[ASN][1000 genomes]
rs41142	0.84[ASN][1000 genomes]
rs42308	0.92[ASN][1000 genomes]
rs474807	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs490983	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs491101	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4957626	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs4957627	0.82[JPT][hapmap];0.84[EUR][1000 genomes]
rs4957996	0.81[EUR][1000 genomes]
rs504582	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs508089	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs586262	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs593236	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6878696	0.84[EUR][1000 genomes]
rs6881837	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6882073	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6882205	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6898198	0.81[AMR][1000 genomes]
rs712660	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7710690	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7716521	0.89[CEU][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7730997	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7735316	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9326846	0.96[CHB][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs980888	0.93[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	nsv599367	chr5:110924280-111602713	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111267200-111278600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:111269000-111272800	Weak transcription	NH-A	brain
3	chr5:111269000-111278000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr5:111269200-111278000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:111269400-111277400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr5:111269400-111277400	Weak transcription	NHDF-Ad	bronchial
7	chr5:111271200-111274000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:111271400-111273800	Enhancers	Osteobl	bone
9	chr5:111271400-111274200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:111271600-111272800	Enhancers	NHEK	skin
11	chr5:111271600-111273800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:111271600-111273800	Enhancers	NHLF	lung
13	chr5:111271600-111274000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr5:111272600-111273000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:111272600-111273800	Enhancers	Fetal Lung	lung

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