Variant report

Variant	rs4671751
Chromosome Location	chr2:67077735-67077736
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs10170124	0.81[AFR][1000 genomes]
rs10196555	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1073280	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1109351	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1110585	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1111235	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12713578	0.81[AFR][1000 genomes]
rs12713581	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12713582	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12713583	0.93[CHB][hapmap];0.93[JPT][hapmap];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs13008648	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13018976	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13031245	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs13420432	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2194662	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2194664	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2194665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2194667	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2216925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4671752	0.97[AFR][1000 genomes]
rs4671754	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6546270	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7599395	1.00[AMR][1000 genomes];0.97[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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67068400-67080200	Weak transcription	Ovary	ovary
2	chr2:67068600-67077800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:67069000-67081400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:67072800-67078000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:67072800-67079200	Enhancers	Pancreas	Pancrea
6	chr2:67073000-67078000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:67073200-67077800	Weak transcription	NHDF-Ad	bronchial
8	chr2:67073800-67077800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:67074200-67079000	Weak transcription	Gastric	stomach
10	chr2:67074600-67078800	Weak transcription	HepG2	liver
11	chr2:67074600-67080000	Weak transcription	Fetal Intestine Small	intestine
12	chr2:67074600-67080000	Weak transcription	Fetal Kidney	kidney
13	chr2:67076200-67077800	Enhancers	Fetal Brain Male	brain
14	chr2:67076200-67079400	Enhancers	Fetal Lung	lung
15	chr2:67076200-67079600	Enhancers	Fetal Stomach	stomach
16	chr2:67076200-67081800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:67076200-67082400	Enhancers	Colon Smooth Muscle	Colon
18	chr2:67076200-67082400	Enhancers	NHLF	lung
19	chr2:67076400-67078000	Enhancers	Placenta	Placenta
20	chr2:67076600-67077800	Enhancers	Lung	lung
21	chr2:67077000-67078000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:67077200-67077800	Enhancers	Fetal Muscle Leg	muscle
23	chr2:67077200-67080800	Enhancers	Rectal Smooth Muscle	rectum
24	chr2:67077600-67077800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:67077600-67077800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:67077600-67078000	Enhancers	H1 Cell Line	embryonic stem cell
27	chr2:67077600-67078000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:67077600-67078400	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr2:67077600-67078400	Weak transcription	Osteobl	bone
30	chr2:67077600-67080000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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