Variant report

Variant	rs17507376
Chromosome Location	chr8:119219536-119219537
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17432513	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17451949	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17451984	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17455085	0.87[ASN][1000 genomes]
rs72675841	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv831441	chr8:119055370-119262970	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv821660	chr8:119082062-119312183	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv1032681	chr8:119153316-119609948	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv539737	chr8:119153316-119609948	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv1016379	chr8:119164234-119448910	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	nsv831442	chr8:119181675-119390122	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119208400-119292400	Weak transcription	Pancreas	Pancrea
2	chr8:119211800-119221600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr8:119213600-119223600	Weak transcription	Spleen	Spleen
4	chr8:119214800-119222200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:119215000-119221800	Weak transcription	Psoas Muscle	Psoas
6	chr8:119215400-119220800	Weak transcription	HUVEC	blood vessel
7	chr8:119215400-119221200	Weak transcription	Adipose Nuclei	Adipose
8	chr8:119215800-119228600	Weak transcription	Left Ventricle	heart
9	chr8:119216400-119221200	Weak transcription	Fetal Lung	lung
10	chr8:119217800-119221600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:119218000-119221600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:119218200-119220200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:119218200-119221000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:119218200-119224200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:119218600-119219600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr8:119218600-119220000	Enhancers	A549	lung
17	chr8:119218600-119222400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:119218800-119219800	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr8:119218800-119220000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr8:119218800-119220000	Enhancers	HMEC	breast
21	chr8:119218800-119220000	Enhancers	NH-A	brain
22	chr8:119218800-119220000	Enhancers	Osteobl	bone
23	chr8:119218800-119222400	Enhancers	HSMM	muscle
24	chr8:119218800-119222600	Enhancers	NHDF-Ad	bronchial
25	chr8:119219000-119219600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:119219000-119219600	Weak transcription	Brain Hippocampus Middle	brain
27	chr8:119219000-119219600	Enhancers	NHEK	skin
28	chr8:119219000-119219800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr8:119219000-119219800	Enhancers	Brain Angular Gyrus	brain
30	chr8:119219000-119219800	Enhancers	Brain Substantia Nigra	brain
31	chr8:119219000-119220000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr8:119219000-119220200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr8:119219000-119222000	Enhancers	NHLF	lung
34	chr8:119219200-119219600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr8:119219200-119220000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:119219400-119219800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:119219400-119220800	Weak transcription	HSMMtube	muscle

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