Variant report

Variant	rs17476812
Chromosome Location	chr8:119064599-119064600
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11562661	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs11562723	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11562731	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs17476574	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs17476672	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17505352	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs17505471	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17505506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58730454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	nsv1025002	chr8:118970940-119069418	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	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
7	esv2752195	chr8:119058819-119139819	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119055200-119065400	Weak transcription	HepG2	liver
2	chr8:119056000-119066200	Weak transcription	Right Ventricle	heart
3	chr8:119057000-119068400	Weak transcription	Hela-S3	cervix
4	chr8:119057800-119065800	Weak transcription	Fetal Intestine Small	intestine
5	chr8:119057800-119065800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr8:119058800-119064600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr8:119058800-119065000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:119058800-119065000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr8:119059600-119065000	Weak transcription	Spleen	Spleen
10	chr8:119060200-119064800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:119060600-119064800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr8:119061000-119066000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr8:119061200-119066000	Weak transcription	Small Intestine	intestine
14	chr8:119061600-119065800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr8:119061800-119065000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:119062000-119066400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:119062000-119067400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr8:119062000-119072800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr8:119062200-119065000	Weak transcription	Gastric	stomach
20	chr8:119062200-119065000	Weak transcription	Ovary	ovary
21	chr8:119062200-119065000	Weak transcription	Pancreas	Pancrea
22	chr8:119062200-119066200	Weak transcription	Psoas Muscle	Psoas
23	chr8:119062200-119066200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr8:119062200-119068400	Weak transcription	Left Ventricle	heart
25	chr8:119062200-119068600	Weak transcription	Right Atrium	heart
26	chr8:119062200-119068600	Weak transcription	Stomach Mucosa	stomach
27	chr8:119062200-119068800	Weak transcription	Esophagus	oesophagus
28	chr8:119062200-119083600	Weak transcription	Fetal Muscle Leg	muscle
29	chr8:119062400-119064600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr8:119062400-119065000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:119062600-119064600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr8:119062600-119065600	Weak transcription	Fetal Intestine Large	intestine
33	chr8:119062800-119064800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr8:119062800-119064800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr8:119062800-119064800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr8:119062800-119064800	Weak transcription	NHDF-Ad	bronchial
37	chr8:119062800-119065000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:119062800-119065000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr8:119062800-119065000	Weak transcription	Aorta	Aorta
40	chr8:119062800-119065000	Weak transcription	A549	lung
41	chr8:119062800-119065400	Weak transcription	Liver	Liver
42	chr8:119062800-119085000	Weak transcription	Fetal Stomach	stomach
43	chr8:119063000-119064800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:119063600-119066600	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr8:119063800-119065000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr8:119063800-119065400	Enhancers	HSMMtube	muscle
47	chr8:119063800-119065400	Genic enhancers	NHEK	skin
48	chr8:119063800-119066800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr8:119063800-119066800	Enhancers	NH-A	brain
50	chr8:119063800-119067000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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