Variant report

Variant	rs72673947
Chromosome Location	chr8:118884379-118884380
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:55787745..55789841-chr8:118882698..118885084,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11993275	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12541851	0.91[EUR][1000 genomes]
rs12542013	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12543508	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12544064	0.84[EUR][1000 genomes]
rs12548703	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12549000	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12549700	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17430533	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17450765	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17450772	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17450793	0.84[EUR][1000 genomes]
rs6991164	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][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	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

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	chr8:118874800-118895800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:118875400-118893600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr8:118875600-118888000	Weak transcription	Hela-S3	cervix
5	chr8:118876200-118884600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:118876200-118889200	Weak transcription	Fetal Muscle Leg	muscle
7	chr8:118876200-118894800	Weak transcription	Fetal Lung	lung
8	chr8:118876200-118904400	Weak transcription	Right Ventricle	heart
9	chr8:118876400-118888000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr8:118876400-118889400	Weak transcription	Left Ventricle	heart
11	chr8:118876400-118894400	Weak transcription	Fetal Intestine Small	intestine
12	chr8:118877800-118896200	Weak transcription	HepG2	liver
13	chr8:118880400-118884600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:118880600-118887800	Weak transcription	Ovary	ovary
15	chr8:118880600-118889200	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr8:118880600-118889800	Weak transcription	A549	lung
17	chr8:118881200-118907600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr8:118881400-118893800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:118881400-118904600	Weak transcription	Lung	lung
20	chr8:118881400-118917400	Weak transcription	Esophagus	oesophagus
21	chr8:118881600-118885400	Weak transcription	Aorta	Aorta
22	chr8:118881600-118892400	Weak transcription	HMEC	breast
23	chr8:118881800-118895400	Weak transcription	Liver	Liver
24	chr8:118881800-118895800	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr8:118881800-118896400	Weak transcription	Fetal Heart	heart
26	chr8:118882400-118887000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr8:118882600-118884800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr8:118882800-118889400	Weak transcription	Spleen	Spleen
29	chr8:118883000-118884400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:118883000-118884600	Weak transcription	Osteobl	bone
31	chr8:118883200-118884400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr8:118883800-118884400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:118883800-118884400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:118883800-118884400	Strong transcription	Fetal Intestine Large	intestine
35	chr8:118883800-118884600	Strong transcription	HSMM	muscle
36	chr8:118884000-118884600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:118884000-118884600	Enhancers	NHDF-Ad	bronchial
38	chr8:118884000-118891800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr8:118884000-118893200	Weak transcription	NHEK	skin
40	chr8:118884200-118884600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr8:118884200-118884600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:118884200-118884600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr8:118884200-118884800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr8:118884200-118884800	Weak transcription	NH-A	brain
45	chr8:118884200-118886400	Enhancers	NHLF	lung
46	chr8:118884200-118893200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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