Variant report

Variant	rs17475952
Chromosome Location	chr8:118958211-118958212
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17475911	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17475918	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17475925	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17504729	1.00[AMR][1000 genomes]
rs17504743	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17504750	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17504757	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17504764	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73323925	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73323928	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73704835	1.00[AMR][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	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv831440	chr8:118871930-119052269	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1032355	chr8:118896733-119003223	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv465785	chr8:118901928-118970300	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv612046	chr8:118901928-118970300	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118935200-118958600	Weak transcription	Esophagus	oesophagus
2	chr8:118946800-118958600	Weak transcription	Pancreas	Pancrea
3	chr8:118947400-118960600	Weak transcription	Right Ventricle	heart
4	chr8:118950000-118958800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:118950400-118958600	Weak transcription	Fetal Heart	heart
6	chr8:118950400-118958600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr8:118950400-118958600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr8:118950400-118960200	Weak transcription	Psoas Muscle	Psoas
9	chr8:118950600-118960600	Weak transcription	Ovary	ovary
10	chr8:118950800-118959200	Weak transcription	Fetal Stomach	stomach
11	chr8:118953200-118958600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr8:118953200-118960000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:118953400-118958400	Weak transcription	Fetal Lung	lung
14	chr8:118953400-118958600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr8:118953400-118959200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:118953800-118958400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:118953800-118958600	Weak transcription	Adipose Nuclei	Adipose
18	chr8:118953800-118958600	Weak transcription	Left Ventricle	heart
19	chr8:118953800-118958800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:118953800-118958800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr8:118953800-118959000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr8:118953800-118959000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr8:118953800-118959000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr8:118953800-118959200	Weak transcription	Fetal Kidney	kidney
25	chr8:118953800-118959400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr8:118953800-118959800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr8:118954000-118959600	Weak transcription	HSMM	muscle
28	chr8:118954200-118958600	Weak transcription	Lung	lung
29	chr8:118954200-118959000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr8:118954400-118958600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:118954400-118959600	Weak transcription	NHLF	lung
32	chr8:118954400-118959800	Weak transcription	HUVEC	blood vessel
33	chr8:118954600-118958600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr8:118954600-118958600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr8:118954600-118958600	Weak transcription	NHDF-Ad	bronchial
36	chr8:118954600-118959600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr8:118954600-118959800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr8:118954800-118962200	Weak transcription	Right Atrium	heart
39	chr8:118956000-118958400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr8:118956000-118958600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr8:118956200-118958400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr8:118956400-118958800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr8:118956400-118958800	Weak transcription	Aorta	Aorta
44	chr8:118956400-118959200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr8:118956600-118958400	Weak transcription	Stomach Mucosa	stomach
46	chr8:118956600-118958600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr8:118956600-118958600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr8:118956600-118958600	Weak transcription	Fetal Thymus	thymus
49	chr8:118956600-118968000	Weak transcription	Placenta	Placenta
50	chr8:118956800-118958800	Weak transcription	Small Intestine	intestine

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