Variant report

Variant	rs4526423
Chromosome Location	chr9:79082405-79082406
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	chr9:79082022..79083727-chr9:79271380..79273433,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10119532	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs10735646	0.83[JPT][hapmap]
rs11144904	0.83[CEU][hapmap]
rs11144922	0.99[ASN][1000 genomes]
rs12237420	0.81[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12344941	0.83[CHB][hapmap]
rs12378119	0.81[CEU][hapmap]
rs3739516	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs4745551	1.00[CEU][hapmap];0.95[CHB][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4745552	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs62565112	0.90[ASN][1000 genomes]
rs62565119	0.99[ASN][1000 genomes]
rs7019479	0.98[ASN][1000 genomes]
rs7465809	0.96[ASN][1000 genomes]
rs7858497	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs785934	0.91[ASN][1000 genomes]
rs785936	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7862822	0.97[ASN][1000 genomes]
rs7871849	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869152	chr9:78742197-79583399	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv931033	chr9:78850330-79366454	Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv893478	chr9:78933874-79101006	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv893479	chr9:78971253-79275226	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv949417	chr9:79078703-79282589	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:79075200-79085200	Weak transcription	Esophagus	oesophagus
2	chr9:79075200-79087200	Weak transcription	Spleen	Spleen
3	chr9:79075400-79086000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr9:79075400-79086800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr9:79075400-79087200	Weak transcription	Colonic Mucosa	Colon
6	chr9:79075400-79089800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr9:79075400-79090200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr9:79075400-79101000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr9:79075600-79083800	Enhancers	Primary B cells from peripheral blood	blood
10	chr9:79075600-79117800	Weak transcription	Primary T cells from cord blood	blood
11	chr9:79076000-79083600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr9:79076000-79084000	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr9:79076000-79087400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr9:79076000-79088000	Weak transcription	NHDF-Ad	bronchial
15	chr9:79076200-79083000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr9:79076200-79083000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr9:79076800-79087200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr9:79077400-79083200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr9:79077600-79082600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr9:79077600-79083000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr9:79077600-79083400	Genic enhancers	Fetal Intestine Small	intestine
22	chr9:79077600-79092800	Weak transcription	Fetal Stomach	stomach
23	chr9:79078400-79083000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr9:79078600-79092400	Weak transcription	HMEC	breast
25	chr9:79078800-79082600	Enhancers	GM12878-XiMat	blood
26	chr9:79078800-79086800	Weak transcription	Small Intestine	intestine
27	chr9:79078800-79087000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr9:79080400-79083200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr9:79080400-79083600	Enhancers	Primary B cells from cord blood	blood
30	chr9:79080600-79082600	Strong transcription	NHLF	lung
31	chr9:79080600-79083600	Strong transcription	HSMM	muscle
32	chr9:79080600-79085000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr9:79080600-79086800	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr9:79080800-79083200	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr9:79080800-79083200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr9:79080800-79117200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr9:79081000-79083600	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr9:79081000-79084000	Strong transcription	Osteobl	bone
39	chr9:79081000-79085800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr9:79081000-79086000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr9:79081000-79087200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr9:79081200-79084200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr9:79081200-79086800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr9:79081200-79087000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr9:79081400-79083000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr9:79081400-79087400	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr9:79081400-79088800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr9:79081600-79086200	Weak transcription	Fetal Thymus	thymus
49	chr9:79081800-79093000	Weak transcription	Lung	lung
50	chr9:79081800-79117200	Weak transcription	Gastric	stomach

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