Variant report

Variant	rs7594189
Chromosome Location	chr2:206455254-206455255
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10469758	1.00[AMR][1000 genomes]
rs11684023	0.83[AMR][1000 genomes]
rs12471061	1.00[AMR][1000 genomes]
rs1473084	0.83[AMR][1000 genomes]
rs1974688	0.83[AMR][1000 genomes]
rs1988085	0.83[AMR][1000 genomes]
rs2058713	0.85[AMR][1000 genomes]
rs2160383	0.83[AMR][1000 genomes]
rs2878751	0.83[AMR][1000 genomes]
rs4618031	0.83[AMR][1000 genomes]
rs4625893	0.83[AMR][1000 genomes]
rs4675534	0.83[AMR][1000 genomes]
rs6719612	0.85[AMR][1000 genomes]
rs6730102	0.83[AMR][1000 genomes]
rs6743334	0.83[AMR][1000 genomes]
rs7349394	0.83[AMR][1000 genomes]
rs738074	0.83[AMR][1000 genomes]
rs764150	0.83[AMR][1000 genomes]
rs9288368	0.83[AMR][1000 genomes]
rs975103	0.83[AMR][1000 genomes]
rs991689	0.83[AMR][1000 genomes]
rs9973667	0.83[AMR][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	nsv1012780	chr2:206124954-206546271	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv10162	chr2:206272092-206525287	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv19770	chr2:206283097-206671319	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv2751840	chr2:206314671-206512921	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1007821	chr2:206333129-206465451	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv584245	chr2:206346410-206464465	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv834514	chr2:206440702-206603167	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv963944	chr2:206454519-206459202	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:206422400-206464600	Weak transcription	Aorta	Aorta
2	chr2:206452400-206455400	Weak transcription	Fetal Intestine Small	intestine
3	chr2:206454000-206455400	Enhancers	HMEC	breast
4	chr2:206454000-206458400	Weak transcription	Right Atrium	heart
5	chr2:206454200-206456000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:206454200-206456000	Enhancers	NHDF-Ad	bronchial
7	chr2:206454400-206455400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr2:206454800-206456600	Enhancers	HSMM	muscle
9	chr2:206455000-206455400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr2:206455000-206455400	Enhancers	Placenta	Placenta
11	chr2:206455000-206455600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:206455000-206455600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:206455000-206455800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:206455000-206455800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:206455000-206455800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:206455200-206455600	Flanking Active TSS	HSMMtube	muscle
17	chr2:206455200-206455800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:206455200-206455800	Enhancers	Fetal Muscle Leg	muscle
19	chr2:206455200-206456200	Enhancers	Osteobl	bone
20	chr2:206455200-206456400	Enhancers	HUVEC	blood vessel

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