Variant report

Variant	rs58461375
Chromosome Location	chr8:119086412-119086413
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:119081594..119083586-chr8:119085175..119088517,3	MCF-7	breast:
2	chr8:119078696..119080896-chr8:119086138..119088865,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11987653	1.00[EUR][1000 genomes]
rs17476191	1.00[EUR][1000 genomes]
rs17476219	1.00[EUR][1000 genomes]
rs17476875	1.00[EUR][1000 genomes]
rs17477049	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17477133	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17505016	1.00[EUR][1000 genomes]
rs17505030	1.00[EUR][1000 genomes]
rs17505037	1.00[EUR][1000 genomes]
rs17505079	1.00[EUR][1000 genomes]
rs17506044	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73327854	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7839261	1.00[EUR][1000 genomes]
rs7845466	1.00[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	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
7	nsv821660	chr8:119082062-119312183	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:119069200-119091600	Weak transcription	Primary T cells from cord blood	blood
2	chr8:119074000-119087200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr8:119074800-119088600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr8:119075000-119102000	Weak transcription	Spleen	Spleen
5	chr8:119078000-119099000	Weak transcription	Dnd41	blood
6	chr8:119078400-119086600	Weak transcription	Pancreas	Pancrea
7	chr8:119078400-119088400	Weak transcription	Hela-S3	cervix
8	chr8:119078400-119091600	Weak transcription	Gastric	stomach
9	chr8:119081600-119087400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr8:119082200-119087000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:119083000-119094600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:119083400-119087000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr8:119083600-119087400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:119083600-119087800	Strong transcription	NHEK	skin
15	chr8:119083800-119086800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:119084000-119086600	Weak transcription	A549	lung
17	chr8:119084000-119086800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr8:119084400-119086600	Weak transcription	Psoas Muscle	Psoas
19	chr8:119084800-119087000	Enhancers	Osteobl	bone
20	chr8:119085200-119088000	Enhancers	Fetal Brain Male	brain
21	chr8:119085200-119091600	Weak transcription	HSMM	muscle
22	chr8:119085400-119088000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr8:119085600-119086600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr8:119085600-119086600	Enhancers	Fetal Muscle Trunk	muscle
25	chr8:119085600-119087600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr8:119085600-119089600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr8:119085600-119100200	Weak transcription	HSMMtube	muscle
28	chr8:119085800-119087200	Active TSS	ES-I3 Cell Line	embryonic stem cell
29	chr8:119085800-119089800	Enhancers	Fetal Heart	heart
30	chr8:119086000-119086600	Active TSS	Aorta	Aorta
31	chr8:119086000-119086800	Flanking Active TSS	Fetal Lung	lung
32	chr8:119086000-119087200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr8:119086000-119087400	Active TSS	H1 Cell Line	embryonic stem cell
34	chr8:119086000-119087800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr8:119086000-119087800	Enhancers	HMEC	breast
36	chr8:119086000-119088800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr8:119086000-119089000	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr8:119086200-119086600	Flanking Active TSS	Fetal Brain Female	brain
39	chr8:119086200-119086600	Enhancers	Right Atrium	heart
40	chr8:119086200-119086600	Enhancers	Right Ventricle	heart
41	chr8:119086200-119086600	Active TSS	Stomach Smooth Muscle	stomach
42	chr8:119086200-119086600	Enhancers	NHDF-Ad	bronchial
43	chr8:119086200-119086800	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr8:119086200-119087000	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr8:119086200-119087000	Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr8:119086200-119087000	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr8:119086200-119087000	Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr8:119086200-119087000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr8:119086200-119087000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr8:119086200-119087200	Active TSS	H9 Cell Line	embryonic stem cell

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