Variant report

Variant	rs9973966
Chromosome Location	chr2:205510258-205510259
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10166278	1.00[EUR][1000 genomes]
rs10168631	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10175056	1.00[EUR][1000 genomes]
rs10179131	1.00[AMR][1000 genomes]
rs10180863	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10184096	1.00[AMR][1000 genomes]
rs10184804	1.00[EUR][1000 genomes]
rs10184836	1.00[EUR][1000 genomes]
rs10190012	1.00[EUR][1000 genomes]
rs10190374	1.00[EUR][1000 genomes]
rs10194617	1.00[EUR][1000 genomes]
rs10199785	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10199977	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10205679	1.00[EUR][1000 genomes]
rs10207338	1.00[AMR][1000 genomes]
rs11899900	1.00[EUR][1000 genomes]
rs11904034	1.00[EUR][1000 genomes]
rs11904064	1.00[EUR][1000 genomes]
rs12328281	1.00[AMR][1000 genomes]
rs12328697	1.00[EUR][1000 genomes]
rs13387065	1.00[AMR][1000 genomes]
rs13390481	1.00[EUR][1000 genomes]
rs13393921	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13396823	1.00[AMR][1000 genomes]
rs13397135	1.00[EUR][1000 genomes]
rs13397282	1.00[EUR][1000 genomes]
rs13399833	1.00[EUR][1000 genomes]
rs13399965	1.00[EUR][1000 genomes]
rs13400246	1.00[EUR][1000 genomes]
rs13407064	1.00[EUR][1000 genomes]
rs13409407	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13410864	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13412566	1.00[EUR][1000 genomes]
rs13412778	1.00[AMR][1000 genomes]
rs13413975	1.00[AMR][1000 genomes]
rs13417497	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13427607	1.00[EUR][1000 genomes]
rs13428250	1.00[EUR][1000 genomes]
rs13432594	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2197690	1.00[EUR][1000 genomes]
rs28538804	1.00[AMR][1000 genomes]
rs28751884	1.00[AMR][1000 genomes]
rs4645000	1.00[EUR][1000 genomes]
rs60899945	1.00[AMR][1000 genomes]
rs6718622	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6741392	1.00[EUR][1000 genomes]
rs6742942	1.00[EUR][1000 genomes]
rs6755557	1.00[AMR][1000 genomes]
rs73057258	1.00[EUR][1000 genomes]
rs73057269	1.00[EUR][1000 genomes]
rs73057270	1.00[EUR][1000 genomes]
rs73059097	1.00[AMR][1000 genomes]
rs73066608	1.00[EUR][1000 genomes]
rs73066610	1.00[EUR][1000 genomes]
rs73066617	1.00[EUR][1000 genomes]
rs73984226	1.00[EUR][1000 genomes]
rs9288355	1.00[EUR][1000 genomes]
rs9653255	1.00[AMR][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:26 , 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	chr2:205508000-205510600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:205508200-205510800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:205508400-205511400	Enhancers	Fetal Lung	lung
11	chr2:205508600-205510600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:205508600-205510800	Enhancers	Adipose Nuclei	Adipose
13	chr2:205508600-205511000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr2:205508800-205510400	Enhancers	Stomach Mucosa	stomach
15	chr2:205508800-205510400	Enhancers	HSMM	muscle
16	chr2:205508800-205510600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:205508800-205510600	Enhancers	HUVEC	blood vessel
18	chr2:205508800-205511000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr2:205509000-205510800	Enhancers	NHLF	lung
20	chr2:205509400-205510400	Enhancers	A549	lung
21	chr2:205509600-205510400	Enhancers	NH-A	brain
22	chr2:205509600-205510800	Enhancers	NHDF-Ad	bronchial
23	chr2:205509800-205510400	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr2:205509800-205510400	Enhancers	Osteobl	bone
25	chr2:205510200-205510400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr2:205510200-205510400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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