Variant report

Variant	rs17450709
Chromosome Location	chr8:118881077-118881078
allele	A/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:10)

rs_ID	r²[population]
rs10103490	0.92[CEU][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12549331	0.81[EUR][1000 genomes]
rs12676684	0.83[CHB][hapmap]
rs12682457	0.83[CHB][hapmap]
rs17439784	0.84[CHB][hapmap]
rs17439826	0.84[CHB][hapmap]
rs17450716	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs17452847	0.80[ASN][1000 genomes]
rs17503900	0.84[CEU][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6469714	0.82[EUR][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	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv831439	chr8:118747352-118899118	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	nsv612035	chr8:118874307-118881866	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118873600-118896200	Weak transcription	Fetal Stomach	stomach
2	chr8:118874000-118881200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr8:118874800-118895800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:118875400-118893600	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr8:118875600-118888000	Weak transcription	Hela-S3	cervix
6	chr8:118876200-118881400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr8:118876200-118883800	Weak transcription	Fetal Intestine Large	intestine
8	chr8:118876200-118884600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:118876200-118889200	Weak transcription	Fetal Muscle Leg	muscle
10	chr8:118876200-118894800	Weak transcription	Fetal Lung	lung
11	chr8:118876200-118904400	Weak transcription	Right Ventricle	heart
12	chr8:118876400-118888000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr8:118876400-118889400	Weak transcription	Left Ventricle	heart
14	chr8:118876400-118894400	Weak transcription	Fetal Intestine Small	intestine
15	chr8:118877400-118882600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr8:118877600-118881200	Enhancers	NH-A	brain
17	chr8:118877800-118896200	Weak transcription	HepG2	liver
18	chr8:118878000-118883800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:118878600-118881600	Enhancers	Aorta	Aorta
20	chr8:118878600-118881600	Enhancers	HMEC	breast
21	chr8:118879000-118881800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:118879600-118881400	Enhancers	NHDF-Ad	bronchial
23	chr8:118879600-118881800	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr8:118879800-118881800	Enhancers	Liver	Liver
25	chr8:118880000-118881400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr8:118880000-118881800	Enhancers	Fetal Heart	heart
27	chr8:118880000-118884200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:118880200-118881400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:118880400-118881600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:118880400-118883800	Weak transcription	HSMM	muscle
31	chr8:118880400-118884600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:118880600-118881400	Weak transcription	Osteobl	bone
33	chr8:118880600-118881600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:118880600-118883600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr8:118880600-118883600	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr8:118880600-118887800	Weak transcription	Ovary	ovary
37	chr8:118880600-118889200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr8:118880600-118889800	Weak transcription	A549	lung
39	chr8:118880800-118881400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr8:118880800-118881400	Enhancers	Lung	lung
41	chr8:118880800-118881600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr8:118880800-118881600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr8:118880800-118881800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr8:118880800-118883400	Weak transcription	NHEK	skin
45	chr8:118881000-118881200	Enhancers	Duodenum Mucosa	Duodenum
46	chr8:118881000-118881200	Weak transcription	NHLF	lung

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