Variant report

Variant	rs2350783
Chromosome Location	chr7:136643030-136643031
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1158586	1.00[CEU][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12155015	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1364407	0.96[CEU][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1364409	0.96[CEU][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1378645	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1378646	1.00[CEU][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1378647	1.00[CEU][hapmap];0.91[JPT][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1455857	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1455858	0.96[CEU][hapmap];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1824024	0.96[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34135940	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6467695	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6467696	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6942627	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6943950	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6952264	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6960707	1.00[CEU][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7782965	0.92[CEU][hapmap];0.86[AMR][1000 genomes]
rs7792449	0.85[AMR][1000 genomes]
rs978437	0.96[CEU][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]

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

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:136640200-136643200	Enhancers	Osteobl	bone
2	chr7:136641200-136644200	Enhancers	Fetal Heart	heart
3	chr7:136641400-136643400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:136641400-136643600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:136641400-136643600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:136641600-136643200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:136642000-136643400	Weak transcription	Lung	lung
8	chr7:136642000-136643400	Weak transcription	Right Ventricle	heart
9	chr7:136642000-136643600	Enhancers	HUVEC	blood vessel
10	chr7:136642000-136644600	Weak transcription	Left Ventricle	heart
11	chr7:136642000-136649200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr7:136642000-136649200	Weak transcription	Fetal Stomach	stomach
13	chr7:136642000-136654600	Weak transcription	Right Atrium	heart
14	chr7:136642200-136643200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:136642400-136643200	Weak transcription	NH-A	brain
16	chr7:136643000-136643200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:136643000-136643200	Enhancers	Gastric	stomach
18	chr7:136643000-136643200	Enhancers	Pancreas	Pancrea
19	chr7:136643000-136643400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr7:136643000-136646000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr7:136643000-136647400	Weak transcription	Colon Smooth Muscle	Colon
22	chr7:136643000-136648800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:136643000-136649400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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