Variant report

Variant	rs7717677
Chromosome Location	chr5:95628320-95628321
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:95621284..95624272-chr5:95627637..95629597,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs58114609	1.00[AMR][1000 genomes]
rs61562255	1.00[AMR][1000 genomes]
rs6863808	1.00[AMR][1000 genomes]
rs6864235	1.00[AMR][1000 genomes]
rs6868668	1.00[AMR][1000 genomes]
rs6889014	1.00[AMR][1000 genomes]
rs6893912	1.00[AMR][1000 genomes]
rs6898628	1.00[AMR][1000 genomes]
rs7701808	1.00[AMR][1000 genomes]
rs7707970	1.00[AMR][1000 genomes]
rs7709380	1.00[AMR][1000 genomes]
rs7724907	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv830410	chr5:95505799-95666310	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:95612600-95632400	Weak transcription	Aorta	Aorta
2	chr5:95617400-95628600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:95617400-95637600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:95617800-95628400	Weak transcription	NHEK	skin
5	chr5:95624600-95628600	Weak transcription	HepG2	liver
6	chr5:95624600-95629800	Weak transcription	A549	lung
7	chr5:95624800-95628400	Weak transcription	Adipose Nuclei	Adipose
8	chr5:95624800-95629800	Weak transcription	Osteobl	bone
9	chr5:95625000-95632400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:95625600-95629400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:95626000-95628600	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr5:95626600-95628400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr5:95626600-95628800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:95626800-95630000	Weak transcription	Fetal Lung	lung
15	chr5:95627000-95631800	Weak transcription	Primary neutrophils fromperipheralblood	blood
16	chr5:95627000-95646000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr5:95627200-95646600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:95627600-95630600	Enhancers	Liver	Liver
19	chr5:95628000-95628400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:95628200-95631400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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