Variant report

Variant	rs17505821
Chromosome Location	chr8:119075123-119075124
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17475218	1.00[YRI][hapmap]
rs17475395	1.00[YRI][hapmap]
rs17477028	1.00[AFR][1000 genomes]
rs17477126	1.00[AFR][1000 genomes]
rs17503997	1.00[YRI][hapmap]
rs17504046	1.00[YRI][hapmap]
rs17504246	1.00[YRI][hapmap]
rs17505924	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs17506086	1.00[YRI][hapmap]
rs17506128	1.00[YRI][hapmap]
rs17506142	1.00[YRI][hapmap]

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:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119062200-119083600	Weak transcription	Fetal Muscle Leg	muscle
2	chr8:119062800-119085000	Weak transcription	Fetal Stomach	stomach
3	chr8:119065600-119079600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr8:119066000-119076000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:119066200-119077600	Weak transcription	Fetal Intestine Small	intestine
6	chr8:119066800-119077600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr8:119066800-119077600	Weak transcription	HepG2	liver
8	chr8:119068000-119076000	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr8:119068000-119077400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:119068000-119085600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr8:119069000-119081200	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr8:119069200-119078000	Weak transcription	Gastric	stomach
13	chr8:119069200-119078000	Weak transcription	Pancreas	Pancrea
14	chr8:119069200-119081200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr8:119069200-119091600	Weak transcription	Primary T cells from cord blood	blood
16	chr8:119069400-119075400	Weak transcription	HSMM	muscle
17	chr8:119069400-119077600	Weak transcription	A549	lung
18	chr8:119069600-119075400	Weak transcription	NH-A	brain
19	chr8:119069800-119080200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:119071200-119075800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:119071200-119076000	Enhancers	Aorta	Aorta
22	chr8:119071600-119075600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr8:119072200-119075600	Genic enhancers	Osteobl	bone
24	chr8:119072200-119076000	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr8:119072600-119075800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr8:119072600-119075800	Enhancers	Adipose Nuclei	Adipose
27	chr8:119072800-119076400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr8:119072800-119080400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr8:119073000-119075600	Weak transcription	Lung	lung
30	chr8:119073000-119076000	Enhancers	Fetal Lung	lung
31	chr8:119073400-119075800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:119073400-119075800	Enhancers	HMEC	breast
33	chr8:119073400-119076000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:119073400-119076000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:119073400-119076000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr8:119073400-119076000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr8:119073400-119078000	Weak transcription	Ovary	ovary
38	chr8:119073400-119083400	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr8:119073600-119075600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr8:119073600-119075600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr8:119073600-119075600	Enhancers	NHLF	lung
42	chr8:119073800-119075600	Weak transcription	Small Intestine	intestine
43	chr8:119074000-119076000	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr8:119074000-119086200	Weak transcription	Colon Smooth Muscle	Colon
45	chr8:119074000-119087200	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr8:119074200-119075200	Enhancers	Psoas Muscle	Psoas
47	chr8:119074200-119076000	Enhancers	NHEK	skin
48	chr8:119074400-119075800	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr8:119074400-119075800	Enhancers	Right Atrium	heart
50	chr8:119074400-119076000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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