Variant report

Variant	rs2032691
Chromosome Location	chr2:205510867-205510868
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1016338	0.93[EUR][1000 genomes]
rs10180873	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1019356	0.92[EUR][1000 genomes]
rs1019357	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12613314	0.82[EUR][1000 genomes]
rs12694010	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16836537	0.83[EUR][1000 genomes]
rs1861763	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2052348	0.90[EUR][1000 genomes]
rs2111446	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2160690	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2216317	0.82[EUR][1000 genomes]
rs2216321	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2335632	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2335633	0.80[EUR][1000 genomes]
rs2335634	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4140727	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4591325	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4675471	0.81[EUR][1000 genomes]
rs57144931	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58858166	0.84[EUR][1000 genomes]
rs6435250	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6758329	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73059069	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7573176	0.86[EUR][1000 genomes]
rs7594540	0.81[ASN][1000 genomes]
rs7600049	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998485	chr2:205407813-206184006	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv536122	chr2:205407813-206184006	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv875722	chr2:205462099-205572718	Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv875723	chr2:205489653-205612846	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1010210	chr2:205489653-206076013	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205501200-205516600	Weak transcription	Aorta	Aorta
2	chr2:205502800-205515000	Weak transcription	Psoas Muscle	Psoas
3	chr2:205504200-205516000	Weak transcription	Fetal Stomach	stomach
4	chr2:205505400-205521600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr2:205506200-205511200	Enhancers	Colon Smooth Muscle	Colon
6	chr2:205507200-205516800	Weak transcription	Ovary	ovary
7	chr2:205507400-205530000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr2:205508400-205511400	Enhancers	Fetal Lung	lung
9	chr2:205508600-205511000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr2:205508800-205511000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:205510400-205519600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:205510600-205519600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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