Variant report

Variant	rs7688616
Chromosome Location	chr4:126309330-126309331
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10212833	0.87[CHB][hapmap]
rs12643623	0.94[EUR][1000 genomes]
rs12650847	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs13435740	1.00[EUR][1000 genomes]
rs1396695	0.83[EUR][1000 genomes]
rs1509285	0.82[CHB][hapmap]
rs17009497	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17009524	0.83[CHB][hapmap]
rs17009611	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17009615	0.87[CEU][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes]
rs17009625	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2016343	1.00[EUR][1000 genomes]
rs6816784	0.97[EUR][1000 genomes]
rs72675308	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72675316	1.00[EUR][1000 genomes]
rs7666354	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs974243	1.00[JPT][hapmap]
rs992122	0.82[CHB][hapmap]
rs9994504	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][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	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
3	nsv470070	chr4:126299145-126408586	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:126290800-126317600	Weak transcription	Fetal Brain Male	brain
2	chr4:126296000-126311200	Weak transcription	Aorta	Aorta
3	chr4:126304200-126309600	Weak transcription	Fetal Heart	heart
4	chr4:126305000-126310600	Weak transcription	Fetal Kidney	kidney
5	chr4:126305400-126309800	Weak transcription	Fetal Lung	lung
6	chr4:126308200-126309600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:126308400-126336000	Weak transcription	Left Ventricle	heart
8	chr4:126308600-126311000	Enhancers	Osteobl	bone
9	chr4:126308800-126309800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:126308800-126311200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr4:126308800-126311200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:126309000-126309400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr4:126309000-126309400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr4:126309000-126310400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr4:126309000-126311200	Enhancers	NHDF-Ad	bronchial
16	chr4:126309000-126311400	Enhancers	NHLF	lung
17	chr4:126309000-126312000	Enhancers	Colon Smooth Muscle	Colon
18	chr4:126309200-126309400	Enhancers	Fetal Stomach	stomach
19	chr4:126309200-126309800	Enhancers	HUVEC	blood vessel
20	chr4:126309200-126310200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:126309200-126310600	Enhancers	HSMM	muscle
22	chr4:126309200-126310800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr4:126309200-126311000	Enhancers	Adipose Nuclei	Adipose
24	chr4:126309200-126311200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr4:126309200-126311200	Enhancers	HSMMtube	muscle
26	chr4:126309200-126311400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr4:126309200-126311400	Weak transcription	Brain Substantia Nigra	brain
28	chr4:126309200-126312000	Enhancers	Rectal Smooth Muscle	rectum

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