Variant report

Variant	rs12713582
Chromosome Location	chr2:67097154-67097155
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:67090168..67092771-chr2:67095579..67098311,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10196555	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1073280	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1109351	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1110585	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1111235	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12713581	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12713583	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs13008648	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13018976	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13031245	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs13420432	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2194660	0.83[AFR][1000 genomes]
rs2194662	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2194664	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2194665	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2194667	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2216925	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4671751	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4671754	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6546270	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6715872	0.91[AFR][1000 genomes]
rs6728760	0.82[AFR][1000 genomes]
rs7599395	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9798168	0.86[AMR][1000 genomes];0.92[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:25 , 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	chr2:67090600-67098000	Enhancers	NHDF-Ad	bronchial
5	chr2:67091800-67098000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:67093000-67097800	Enhancers	HSMM	muscle
7	chr2:67093000-67098000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:67093200-67097400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:67093600-67098000	Enhancers	NH-A	brain
10	chr2:67094400-67099200	Weak transcription	Fetal Kidney	kidney
11	chr2:67094800-67099400	Weak transcription	Fetal Stomach	stomach
12	chr2:67095200-67097600	Weak transcription	Rectal Smooth Muscle	rectum
13	chr2:67095400-67098600	Weak transcription	Fetal Lung	lung
14	chr2:67095600-67099600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr2:67095600-67100200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:67096400-67099200	Weak transcription	HUVEC	blood vessel
17	chr2:67096600-67099200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:67096600-67099600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:67096600-67100000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:67096600-67100400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr2:67096800-67099000	Weak transcription	Osteobl	bone
22	chr2:67097000-67098800	Weak transcription	Fetal Heart	heart
23	chr2:67097000-67100200	Weak transcription	HSMMtube	muscle
24	chr2:67097000-67100800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr2:67097000-67103600	Enhancers	Colon Smooth Muscle	Colon

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