Variant report

Variant	rs10095393
Chromosome Location	chr8:131686649-131686650
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	chr8:131540626..131543155-chr8:131685546..131688232,2	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10088420	0.81[EUR][1000 genomes]
rs10095479	0.81[EUR][1000 genomes]
rs10095628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10095820	0.81[EUR][1000 genomes]
rs10098463	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10105307	0.88[EUR][1000 genomes]
rs10107223	0.81[EUR][1000 genomes]
rs10108730	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10112041	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10113164	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11985368	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11993977	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11995981	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1509847	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16893283	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16893288	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16904337	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16904339	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1912271	0.81[EUR][1000 genomes]
rs1912272	0.81[EUR][1000 genomes]
rs1961665	0.81[EUR][1000 genomes]
rs28379502	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28428945	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28430960	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28870411	0.93[EUR][1000 genomes]
rs4236892	0.86[ASN][1000 genomes]
rs4294201	0.82[EUR][1000 genomes]
rs4472534	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4483174	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4560808	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs59406705	0.93[EUR][1000 genomes]
rs7002882	0.85[CEU][hapmap];0.88[CHB][hapmap];0.83[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7004166	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs715679	0.81[EUR][1000 genomes]
rs72728275	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72728278	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72728285	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72730003	0.88[EUR][1000 genomes]
rs73344752	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7822131	0.95[EUR][1000 genomes]
rs7831277	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7832079	0.88[CHB][hapmap];0.83[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7844774	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs952132	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs956481	0.88[CHB][hapmap];0.83[JPT][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv915864	chr8:131509799-131754822	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv2752684	chr8:131641096-131710094	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	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
5	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

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131672400-131689600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:131683400-131688600	Enhancers	NHDF-Ad	bronchial
3	chr8:131684000-131688400	Enhancers	HUVEC	blood vessel
4	chr8:131684400-131688400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr8:131685400-131687600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr8:131685400-131688000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr8:131685600-131687600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:131685600-131687600	Weak transcription	Brain Hippocampus Middle	brain
9	chr8:131685600-131687600	Weak transcription	Fetal Stomach	stomach
10	chr8:131685600-131687600	Weak transcription	Ovary	ovary
11	chr8:131685600-131688400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:131685800-131687600	Weak transcription	A549	lung
13	chr8:131685800-131687600	Weak transcription	HSMMtube	muscle
14	chr8:131685800-131687600	Weak transcription	NHEK	skin
15	chr8:131686000-131687000	Weak transcription	Fetal Brain Female	brain
16	chr8:131686000-131687000	Weak transcription	Fetal Muscle Leg	muscle
17	chr8:131686000-131687000	Weak transcription	Right Ventricle	heart
18	chr8:131686000-131687600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:131686000-131687600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:131686000-131687600	Weak transcription	HSMM	muscle
21	chr8:131686000-131687800	Weak transcription	Right Atrium	heart
22	chr8:131686000-131688000	Weak transcription	Hela-S3	cervix
23	chr8:131686200-131687200	Weak transcription	Fetal Brain Male	brain
24	chr8:131686200-131687600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:131686200-131687600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr8:131686200-131687600	Weak transcription	Left Ventricle	heart
27	chr8:131686200-131687600	Weak transcription	Psoas Muscle	Psoas
28	chr8:131686200-131687600	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr8:131686200-131687600	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr8:131686200-131687600	Weak transcription	NH-A	brain
31	chr8:131686200-131687600	Weak transcription	Osteobl	bone
32	chr8:131686200-131687800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:131686200-131688000	Weak transcription	Placenta	Placenta
34	chr8:131686200-131688000	Weak transcription	K562	blood
35	chr8:131686200-131689600	Weak transcription	Lung	lung
36	chr8:131686200-131694800	Weak transcription	Esophagus	oesophagus
37	chr8:131686400-131686800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:131686400-131687600	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr8:131686600-131687000	Weak transcription	NHLF	lung
40	chr8:131686600-131687600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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