Variant report

Variant	rs7594786
Chromosome Location	chr2:40593756-40593757
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11124739	0.87[ASN][1000 genomes]
rs12987979	0.80[ASN][1000 genomes]
rs12989852	0.80[ASN][1000 genomes]
rs13014950	0.80[ASN][1000 genomes]
rs13405065	0.85[ASN][1000 genomes]
rs1558654	0.82[ASN][1000 genomes]
rs1558655	0.82[ASN][1000 genomes]
rs2192779	0.80[ASN][1000 genomes]
rs4952409	0.80[ASN][1000 genomes]
rs6544323	0.80[ASN][1000 genomes]
rs6544324	0.82[ASN][1000 genomes]
rs6544325	0.82[ASN][1000 genomes]
rs6544326	0.82[ASN][1000 genomes]
rs6544329	0.80[ASN][1000 genomes]
rs6544330	0.82[ASN][1000 genomes]
rs6544334	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs981739	0.82[ASN][1000 genomes]
rs984707	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs990270	0.80[ASN][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	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2757794	chr2:40547947-40733776	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv2759044	chr2:40547947-40733776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv873915	chr2:40573350-40615520	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40586800-40593800	Enhancers	Fetal Heart	heart
2	chr2:40591000-40598400	Weak transcription	Fetal Stomach	stomach
3	chr2:40591600-40600800	Weak transcription	Psoas Muscle	Psoas
4	chr2:40592200-40594200	Enhancers	Colon Smooth Muscle	Colon
5	chr2:40592200-40594200	Weak transcription	NH-A	brain
6	chr2:40592200-40594600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:40592200-40594600	Weak transcription	HMEC	breast
8	chr2:40592200-40598000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:40592200-40598400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:40592200-40598800	Weak transcription	Left Ventricle	heart
11	chr2:40592400-40594600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:40592400-40594600	Weak transcription	HSMMtube	muscle
13	chr2:40592400-40594800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:40592400-40596400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:40592400-40597200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:40592400-40597400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:40592400-40597400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr2:40592400-40598000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr2:40592400-40598000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr2:40592400-40598400	Weak transcription	Brain Anterior Caudate	brain
21	chr2:40592400-40598400	Weak transcription	Fetal Kidney	kidney
22	chr2:40592400-40598600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:40592400-40598800	Weak transcription	Ovary	ovary
24	chr2:40592400-40605200	Weak transcription	Right Atrium	heart
25	chr2:40592600-40594400	Weak transcription	HSMM	muscle
26	chr2:40592800-40594200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr2:40592800-40596400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr2:40592800-40596400	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr2:40592800-40597200	Weak transcription	NHDF-Ad	bronchial
30	chr2:40592800-40606600	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr2:40593000-40594200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:40593000-40594200	Enhancers	Fetal Brain Female	brain
33	chr2:40593000-40594200	Weak transcription	Hela-S3	cervix
34	chr2:40593000-40594200	Weak transcription	Osteobl	bone
35	chr2:40593000-40594600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:40593000-40594600	Weak transcription	Right Ventricle	heart
37	chr2:40593400-40595000	Enhancers	Fetal Brain Male	brain
38	chr2:40593400-40607000	Weak transcription	Dnd41	blood

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