Variant report

Variant	rs1073280
Chromosome Location	chr2:67092727-67092728
allele	C/T
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: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10196555	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1109351	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1110585	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1111235	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12713576	0.89[YRI][hapmap]
rs12713581	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12713582	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12713583	1.00[CHB][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs13008648	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13018976	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13031245	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs13420432	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2194660	0.82[AFR][1000 genomes]
rs2194662	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]
rs4671751	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4671754	0.85[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	0.92[AFR][1000 genomes]
rs6728760	0.83[AFR][1000 genomes]
rs7599395	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:23 , 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	chr2:67090600-67093600	Weak transcription	Fetal Lung	lung
6	chr2:67090600-67094000	Weak transcription	Osteobl	bone
7	chr2:67090600-67098000	Enhancers	NHDF-Ad	bronchial
8	chr2:67090800-67094000	Weak transcription	Fetal Kidney	kidney
9	chr2:67091000-67093600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:67091000-67093600	Weak transcription	Colon Smooth Muscle	Colon
11	chr2:67091000-67093600	Weak transcription	Fetal Stomach	stomach
12	chr2:67091000-67093600	Weak transcription	NH-A	brain
13	chr2:67091000-67094000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:67091200-67093000	Weak transcription	HSMM	muscle
15	chr2:67091200-67093400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr2:67091200-67095800	Weak transcription	NHEK	skin
17	chr2:67091200-67096000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:67091200-67096600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:67091800-67098000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:67092400-67095200	Enhancers	Rectal Smooth Muscle	rectum
21	chr2:67092600-67092800	Enhancers	HSMMtube	muscle
22	chr2:67092600-67093000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:67092600-67094400	Enhancers	Placenta Amnion	Placenta Amnion

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