Variant report

Variant	rs7690603
Chromosome Location	chr4:126290437-126290438
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10011289	0.98[EUR][1000 genomes]
rs10212833	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12650847	0.90[EUR][1000 genomes]
rs1509285	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17009524	0.89[ASN][1000 genomes]
rs974243	0.91[EUR][1000 genomes]
rs992122	0.89[ASN][1000 genomes]
rs9994504	0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006068	chr4:126103233-126497467	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv830051	chr4:126234895-126403426	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:126282600-126293000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:126289200-126290800	Flanking Active TSS	HUVEC	blood vessel
3	chr4:126289400-126290600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:126289600-126290800	Enhancers	Fetal Brain Male	brain
5	chr4:126289600-126291000	Active TSS	Stomach Smooth Muscle	stomach
6	chr4:126289800-126290600	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr4:126290000-126290600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:126290200-126290600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr4:126290200-126290600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
10	chr4:126290200-126290600	Enhancers	Fetal Brain Female	brain
11	chr4:126290200-126290600	Enhancers	Fetal Muscle Leg	muscle
12	chr4:126290200-126290600	Enhancers	Ovary	ovary
13	chr4:126290200-126290600	Enhancers	Psoas Muscle	Psoas
14	chr4:126290200-126290600	Flanking Active TSS	Osteobl	bone
15	chr4:126290200-126291000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr4:126290200-126291000	Enhancers	Rectal Smooth Muscle	rectum
17	chr4:126290200-126291600	Enhancers	Fetal Lung	lung
18	chr4:126290400-126290600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr4:126290400-126290600	Enhancers	HMEC	breast
20	chr4:126290400-126290600	Flanking Active TSS	NH-A	brain
21	chr4:126290400-126290600	Enhancers	NHDF-Ad	bronchial
22	chr4:126290400-126290800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:126290400-126290800	Weak transcription	Aorta	Aorta
24	chr4:126290400-126291000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:126290400-126291000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:126290400-126291000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:126290400-126294200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr4:126290400-126294800	Weak transcription	Colon Smooth Muscle	Colon
29	chr4:126290400-126309200	Weak transcription	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links