Variant report

Variant	rs60507704
Chromosome Location	chr8:116068764-116068765
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs58979446	1.00[AMR][1000 genomes]
rs59017030	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59098752	1.00[AMR][1000 genomes]
rs60896108	1.00[AMR][1000 genomes]
rs73357140	1.00[AMR][1000 genomes]
rs73358612	1.00[AMR][1000 genomes]
rs73365655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73367168	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv611976	chr8:115261134-116223865	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1018280	chr8:115307838-116189192	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv539726	chr8:115307838-116189192	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv891373	chr8:115351857-116295809	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv891377	chr8:115395451-116110725	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv891395	chr8:115642536-116222842	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv891397	chr8:115810385-116129344	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv891399	chr8:116037798-116295809	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1025666	chr8:116051254-116149507	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	nsv1025482	chr8:116051374-116149507	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv1029474	chr8:116054292-116148965	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv1032185	chr8:116054292-116149507	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1016140	chr8:116054292-116154006	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:116067000-116069400	Enhancers	HMEC	breast
2	chr8:116067000-116070800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:116067200-116068800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:116067200-116068800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr8:116067400-116069000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:116067400-116069400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:116067400-116069400	Enhancers	HSMMtube	muscle
8	chr8:116067400-116070800	Enhancers	HSMM	muscle
9	chr8:116067600-116069000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:116067600-116069400	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr8:116067800-116068800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr8:116068000-116069400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr8:116068000-116069400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:116068000-116069400	Enhancers	Hela-S3	cervix
15	chr8:116068000-116070000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:116068200-116068800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:116068200-116068800	Active TSS	NH-A	brain
18	chr8:116068200-116068800	Active TSS	NHDF-Ad	bronchial
19	chr8:116068200-116068800	Active TSS	NHLF	lung
20	chr8:116068400-116068800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:116068600-116069000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:116068600-116069000	Enhancers	Osteobl	bone

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