Variant report

Variant	rs62518117
Chromosome Location	chr8:131918564-131918565
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:131897056..131899466-chr8:131918188..131920007,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10087086	0.89[EUR][1000 genomes]
rs12334503	0.90[EUR][1000 genomes]
rs12543125	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12545028	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12550604	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17248988	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28404858	0.94[EUR][1000 genomes]
rs28621562	0.90[EUR][1000 genomes]
rs4130328	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs56017199	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62518115	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62518116	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62518120	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62518121	0.92[EUR][1000 genomes]
rs62518124	0.92[EUR][1000 genomes]
rs62518142	0.91[EUR][1000 genomes]
rs6470863	0.89[EUR][1000 genomes]
rs6980959	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv612294	chr8:131645079-131923377	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv891448	chr8:131668278-131968469	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1034107	chr8:131740146-131985765	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv539747	chr8:131740146-131985765	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1030881	chr8:131801472-132654822	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv1028579	chr8:131909872-132497149	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131913600-131920800	Enhancers	NHDF-Ad	bronchial
2	chr8:131914400-131920600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr8:131915200-131919800	Enhancers	NHLF	lung
4	chr8:131915200-131920400	Enhancers	HMEC	breast
5	chr8:131915200-131920400	Enhancers	HSMM	muscle
6	chr8:131915200-131921200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:131915400-131920200	Enhancers	Osteobl	bone
8	chr8:131915400-131920600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:131915800-131919600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr8:131915800-131920800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:131916000-131920200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:131917400-131919400	Enhancers	NHEK	skin
13	chr8:131917600-131918600	Enhancers	Aorta	Aorta
14	chr8:131917600-131919000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:131917600-131919200	Weak transcription	HSMMtube	muscle
16	chr8:131917600-131920200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr8:131917600-131920200	Enhancers	NH-A	brain
18	chr8:131917600-131933600	Weak transcription	Brain Angular Gyrus	brain
19	chr8:131917800-131918600	Enhancers	HUVEC	blood vessel
20	chr8:131917800-131918800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:131917800-131918800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:131917800-131921400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr8:131917800-131923400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr8:131918000-131919200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr8:131918400-131918800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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