Variant report

Variant	rs7599395
Chromosome Location	chr2:67093779-67093780
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10170124	0.83[AFR][1000 genomes]
rs10196555	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1073280	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1109351	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1110585	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1111235	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12713578	0.83[AFR][1000 genomes]
rs12713581	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12713582	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12713583	0.83[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs13008648	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13018976	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13020124	0.80[AFR][1000 genomes]
rs13031245	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13420432	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1559602	0.80[AFR][1000 genomes]
rs17632177	0.80[AFR][1000 genomes]
rs2194660	0.88[AFR][1000 genomes]
rs2194662	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2194664	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2194665	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2194667	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2216925	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35156489	0.80[AFR][1000 genomes]
rs4671751	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4671754	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546270	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6715872	0.85[AFR][1000 genomes]
rs9798168	0.86[AMR][1000 genomes];0.97[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	nsv1009027	chr2:66947462-67114455	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv874246	chr2:67001969-67147854	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67089400-67102000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr2:67089600-67098000	Enhancers	NHLF	lung
3	chr2:67089600-67102400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:67089800-67094800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:67090600-67094000	Weak transcription	Osteobl	bone
6	chr2:67090600-67098000	Enhancers	NHDF-Ad	bronchial
7	chr2:67090800-67094000	Weak transcription	Fetal Kidney	kidney
8	chr2:67091000-67094000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:67091200-67095800	Weak transcription	NHEK	skin
10	chr2:67091200-67096000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:67091200-67096600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:67091800-67098000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:67092400-67095200	Enhancers	Rectal Smooth Muscle	rectum
14	chr2:67092600-67094400	Enhancers	Placenta Amnion	Placenta Amnion
15	chr2:67093000-67097800	Enhancers	HSMM	muscle
16	chr2:67093000-67098000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:67093200-67094400	Enhancers	HSMMtube	muscle
18	chr2:67093200-67097400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:67093400-67094200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:67093400-67095600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:67093400-67097000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr2:67093600-67094800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:67093600-67094800	Enhancers	Colon Smooth Muscle	Colon
24	chr2:67093600-67094800	Enhancers	Fetal Stomach	stomach
25	chr2:67093600-67095400	Enhancers	Fetal Lung	lung
26	chr2:67093600-67098000	Enhancers	NH-A	brain

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