Variant report

Variant	rs4140727
Chromosome Location	chr2:205572112-205572113
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1016338	0.90[EUR][1000 genomes]
rs10180873	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1019356	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1019357	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12694010	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16836537	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1861763	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2032691	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2052348	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2111446	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2160690	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2216321	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2335632	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2335634	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4591325	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57144931	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6435250	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6722595	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6750084	0.81[EUR][1000 genomes]
rs6751181	0.81[EUR][1000 genomes]
rs6758329	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73059069	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7573176	0.91[EUR][1000 genomes]
rs7594540	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7600049	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
6	nsv584243	chr2:205539092-205630618	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv2757846	chr2:205539832-205841174	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv2759111	chr2:205539832-205841174	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:205557200-205595600	Weak transcription	Aorta	Aorta
2	chr2:205569800-205580800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr2:205570000-205581800	Weak transcription	Ovary	ovary
4	chr2:205570600-205580400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:205570600-205582600	Weak transcription	Psoas Muscle	Psoas
6	chr2:205571200-205572200	Enhancers	HSMM	muscle
7	chr2:205571400-205572400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:205571400-205572400	Enhancers	Fetal Lung	lung
9	chr2:205571400-205587800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:205571600-205572200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:205571600-205572200	Enhancers	Fetal Kidney	kidney
12	chr2:205571800-205572200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:205571800-205572200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:205571800-205572200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:205571800-205572200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:205571800-205572200	Enhancers	Colon Smooth Muscle	Colon
17	chr2:205571800-205572200	Enhancers	HSMMtube	muscle
18	chr2:205572000-205572200	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr2:205572000-205582400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:205572000-205592200	Weak transcription	Pancreas	Pancrea

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