Variant report

Variant	rs2350782
Chromosome Location	chr7:136642634-136642635
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1111418	0.95[JPT][hapmap]
rs12155015	0.81[JPT][hapmap]
rs1364408	0.85[JPT][hapmap]
rs1424546	0.95[JPT][hapmap]
rs1455857	0.81[CHB][hapmap]
rs17168819	0.84[JPT][hapmap]
rs1824024	0.91[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs6943656	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs6952499	0.98[ASN][1000 genomes]
rs7806357	0.84[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029192	chr7:136433278-137147566	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv831147	chr7:136583444-136755741	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	esv2753059	chr7:136633745-136893745	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Heart rate	23583979	GWAS catalog

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:136640200-136643200	Enhancers	Osteobl	bone
2	chr7:136640400-136643000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr7:136641000-136643000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:136641000-136643000	Enhancers	Colon Smooth Muscle	Colon
5	chr7:136641200-136644200	Enhancers	Fetal Heart	heart
6	chr7:136641400-136643000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:136641400-136643400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:136641400-136643600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr7:136641400-136643600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:136641600-136643000	Enhancers	Rectal Smooth Muscle	rectum
11	chr7:136641600-136643200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:136641800-136642800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr7:136642000-136643000	Weak transcription	Gastric	stomach
14	chr7:136642000-136643000	Weak transcription	Pancreas	Pancrea
15	chr7:136642000-136643400	Weak transcription	Lung	lung
16	chr7:136642000-136643400	Weak transcription	Right Ventricle	heart
17	chr7:136642000-136643600	Enhancers	HUVEC	blood vessel
18	chr7:136642000-136644600	Weak transcription	Left Ventricle	heart
19	chr7:136642000-136649200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr7:136642000-136649200	Weak transcription	Fetal Stomach	stomach
21	chr7:136642000-136654600	Weak transcription	Right Atrium	heart
22	chr7:136642200-136643000	Enhancers	Brain Hippocampus Middle	brain
23	chr7:136642200-136643200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr7:136642400-136642800	Weak transcription	Stomach Smooth Muscle	stomach
25	chr7:136642400-136643200	Weak transcription	NH-A	brain

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