Variant report

Variant	rs17505784
Chromosome Location	chr8:119072420-119072421
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17476623	0.86[AFR][1000 genomes]
rs17476700	0.90[AFR][1000 genomes]
rs17476924	0.82[AFR][1000 genomes]
rs17505513	0.90[AFR][1000 genomes]
rs17505691	0.98[AFR][1000 genomes]
rs17505910	0.82[AFR][1000 genomes]
rs56043836	0.88[AFR][1000 genomes]
rs73704896	0.86[AFR][1000 genomes]
rs73704897	0.98[AFR][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	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	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
6	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:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119062000-119072800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr8:119062200-119083600	Weak transcription	Fetal Muscle Leg	muscle
3	chr8:119062800-119085000	Weak transcription	Fetal Stomach	stomach
4	chr8:119065400-119073000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:119065600-119072800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr8:119065600-119072800	Weak transcription	Ovary	ovary
7	chr8:119065600-119072800	Weak transcription	Spleen	Spleen
8	chr8:119065600-119073200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:119065600-119074600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr8:119065600-119079600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr8:119066000-119076000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:119066200-119074600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:119066200-119077600	Weak transcription	Fetal Intestine Small	intestine
14	chr8:119066800-119077600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr8:119066800-119077600	Weak transcription	HepG2	liver
16	chr8:119068000-119076000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr8:119068000-119077400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr8:119068000-119085600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr8:119069000-119072800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr8:119069000-119072800	Weak transcription	Stomach Mucosa	stomach
21	chr8:119069000-119074400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr8:119069000-119081200	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr8:119069200-119072600	Weak transcription	Left Ventricle	heart
24	chr8:119069200-119073000	Weak transcription	Small Intestine	intestine
25	chr8:119069200-119074400	Weak transcription	Right Ventricle	heart
26	chr8:119069200-119078000	Weak transcription	Gastric	stomach
27	chr8:119069200-119078000	Weak transcription	Pancreas	Pancrea
28	chr8:119069200-119081200	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr8:119069200-119091600	Weak transcription	Primary T cells from cord blood	blood
30	chr8:119069400-119072600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr8:119069400-119072600	Weak transcription	Liver	Liver
32	chr8:119069400-119072600	Weak transcription	NHLF	lung
33	chr8:119069400-119072800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr8:119069400-119073000	Weak transcription	Right Atrium	heart
35	chr8:119069400-119075400	Weak transcription	HSMM	muscle
36	chr8:119069400-119077600	Weak transcription	A549	lung
37	chr8:119069600-119072800	Weak transcription	NHDF-Ad	bronchial
38	chr8:119069600-119074000	Weak transcription	HUVEC	blood vessel
39	chr8:119069600-119075400	Weak transcription	NH-A	brain
40	chr8:119069800-119080200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr8:119070600-119073000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr8:119071000-119073400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr8:119071200-119075800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr8:119071200-119076000	Enhancers	Aorta	Aorta
45	chr8:119071600-119072800	Weak transcription	Psoas Muscle	Psoas
46	chr8:119071600-119073000	Enhancers	Lung	lung
47	chr8:119071600-119073000	Enhancers	HMEC	breast
48	chr8:119071600-119075600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr8:119071800-119072600	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr8:119071800-119072800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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