Variant report

Variant	rs73695519
Chromosome Location	chr8:95706334-95706335
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:95705815..95708569-chr8:95708838..95711024,3	MCF-7	breast:
2	chr8:95705965..95708833-chr8:95711064..95712793,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs55862449	0.87[AMR][1000 genomes]
rs56078107	0.87[AMR][1000 genomes]
rs56147836	0.87[AMR][1000 genomes]
rs56770571	0.87[AMR][1000 genomes]
rs57531232	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs57814850	0.87[AMR][1000 genomes]
rs58855099	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs59847618	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs60445949	0.87[AMR][1000 genomes]
rs73695513	0.87[AMR][1000 genomes]
rs73695514	0.87[AMR][1000 genomes]
rs73695515	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73695517	0.80[AFR][1000 genomes]
rs73695518	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73695520	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73695521	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73695523	0.87[AMR][1000 genomes]
rs73695524	0.87[AMR][1000 genomes]
rs73695567	0.87[AMR][1000 genomes]
rs73695569	0.87[AMR][1000 genomes]
rs73695570	0.87[AMR][1000 genomes]
rs73695571	0.87[AMR][1000 genomes]
rs73695572	0.87[AMR][1000 genomes]
rs73695573	0.87[AMR][1000 genomes]
rs73695576	0.87[AMR][1000 genomes]
rs73695577	0.87[AMR][1000 genomes]
rs73695578	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95656400-95713000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
2	chr8:95680600-95718400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr8:95690600-95722600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:95691000-95712200	Weak transcription	Colonic Mucosa	Colon
5	chr8:95691400-95706800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr8:95695000-95712200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:95697200-95712200	Weak transcription	Esophagus	oesophagus
8	chr8:95698600-95714200	Weak transcription	Fetal Kidney	kidney
9	chr8:95700400-95719800	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr8:95701000-95708200	Weak transcription	Fetal Intestine Large	intestine
11	chr8:95702400-95719800	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr8:95702400-95720400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr8:95702600-95719400	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr8:95702600-95720200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr8:95702800-95720200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr8:95703000-95706400	Enhancers	Fetal Heart	heart
17	chr8:95703200-95706600	Weak transcription	Lung	lung
18	chr8:95703200-95716800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:95703800-95706600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr8:95704200-95706400	Enhancers	HSMMtube	muscle
21	chr8:95704200-95706800	Strong transcription	H9 Cell Line	embryonic stem cell
22	chr8:95704200-95719400	Strong transcription	H1 Cell Line	embryonic stem cell
23	chr8:95704400-95709000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr8:95704400-95714200	Strong transcription	Duodenum Mucosa	Duodenum
25	chr8:95704800-95706400	Strong transcription	Placenta	Placenta
26	chr8:95704800-95709600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr8:95704800-95711600	Weak transcription	Pancreas	Pancrea
28	chr8:95705000-95710000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:95705000-95714400	Weak transcription	Gastric	stomach
30	chr8:95705200-95706400	Enhancers	HMEC	breast
31	chr8:95705200-95710800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr8:95705400-95707000	Enhancers	A549	lung
33	chr8:95705400-95711400	Weak transcription	Small Intestine	intestine
34	chr8:95705600-95714200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr8:95705800-95707400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr8:95705800-95719800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr8:95706000-95709000	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr8:95706000-95714400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr8:95706000-95718800	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr8:95706200-95706600	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr8:95706200-95707000	Weak transcription	NHEK	skin
42	chr8:95706200-95708200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr8:95706200-95708200	Weak transcription	Stomach Mucosa	stomach
44	chr8:95706200-95708400	Strong transcription	Fetal Intestine Small	intestine
45	chr8:95706200-95720600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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