Variant report

Variant	rs73320185
Chromosome Location	chr8:118882887-118882888
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: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs17450752	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17475070	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17479474	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17479502	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17503872	0.84[EUR][1000 genomes]
rs55738796	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73706474	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7826442	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	chr8:118876200-118883800	Weak transcription	Fetal Intestine Large	intestine
6	chr8:118876200-118884600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:118876200-118889200	Weak transcription	Fetal Muscle Leg	muscle
8	chr8:118876200-118894800	Weak transcription	Fetal Lung	lung
9	chr8:118876200-118904400	Weak transcription	Right Ventricle	heart
10	chr8:118876400-118888000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr8:118876400-118889400	Weak transcription	Left Ventricle	heart
12	chr8:118876400-118894400	Weak transcription	Fetal Intestine Small	intestine
13	chr8:118877800-118896200	Weak transcription	HepG2	liver
14	chr8:118878000-118883800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:118880000-118884200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:118880400-118883800	Weak transcription	HSMM	muscle
17	chr8:118880400-118884600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:118880600-118883600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:118880600-118883600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr8:118880600-118887800	Weak transcription	Ovary	ovary
21	chr8:118880600-118889200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr8:118880600-118889800	Weak transcription	A549	lung
23	chr8:118880800-118883400	Weak transcription	NHEK	skin
24	chr8:118881200-118883400	Weak transcription	NH-A	brain
25	chr8:118881200-118907600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr8:118881400-118883000	Enhancers	Osteobl	bone
27	chr8:118881400-118883800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr8:118881400-118893800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:118881400-118904600	Weak transcription	Lung	lung
30	chr8:118881400-118917400	Weak transcription	Esophagus	oesophagus
31	chr8:118881600-118883000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr8:118881600-118883800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:118881600-118883800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:118881600-118883800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr8:118881600-118885400	Weak transcription	Aorta	Aorta
36	chr8:118881600-118892400	Weak transcription	HMEC	breast
37	chr8:118881800-118883200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr8:118881800-118883200	Enhancers	NHLF	lung
39	chr8:118881800-118883400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr8:118881800-118895400	Weak transcription	Liver	Liver
41	chr8:118881800-118895800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr8:118881800-118896400	Weak transcription	Fetal Heart	heart
43	chr8:118882400-118887000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr8:118882600-118884800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr8:118882800-118883000	Genic enhancers	NHDF-Ad	bronchial
46	chr8:118882800-118889400	Weak transcription	Spleen	Spleen

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