Variant report

Variant	rs12525187
Chromosome Location	chr6:26337537-26337538
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:26336805..26339023-chr6:26339169..26341807,3	MCF-7	breast:
2	chr6:26335854..26338260-chr6:26521210..26523383,2	K562	blood:
3	chr6:26337285..26338978-chr6:27114759..27116381,2	K562	blood:
4	chr6:26336354..26338336-chr6:26594777..26597675,2	K562	blood:
5	chr6:26332412..26338207-chr6:26594644..26597899,6	K562	blood:
6	chr6:26336969..26339316-chr6:26536636..26539094,2	K562	blood:
7	chr6:26335002..26338978-chr6:27114071..27116381,5	K562	blood:

Variant related genes	Relation type
ENSG00000184825	Chromatin interaction
ENSG00000228223	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000182952	Chromatin interaction
ENSG00000197903	Chromatin interaction
ENSG00000146109	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12660432	0.82[EUR][1000 genomes]
rs17608582	0.82[EUR][1000 genomes]
rs1883213	0.81[EUR][1000 genomes]
rs1987244	0.81[EUR][1000 genomes]
rs2893820	0.81[EUR][1000 genomes]
rs2893843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4412193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61324092	0.81[EUR][1000 genomes]
rs62394764	0.81[EUR][1000 genomes]
rs62394768	0.82[EUR][1000 genomes]
rs6908402	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6917995	0.81[ASN][1000 genomes]
rs6918325	0.81[EUR][1000 genomes]
rs6930616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs725575	0.81[EUR][1000 genomes]
rs9357005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9358916	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9358918	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9358920	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9358925	0.82[EUR][1000 genomes]
rs9358927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9366648	0.81[EUR][1000 genomes]
rs9366650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9379842	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9379844	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9379846	0.82[EUR][1000 genomes]
rs9393691	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9393696	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9393697	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029920	chr6:25638507-26585842	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
2	nsv538162	chr6:25638507-26585842	Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
3	nsv1030351	chr6:25813178-26352046	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1189 gene(s)	inside rSNPs	diseases
4	nsv1023453	chr6:25853830-26528250	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer 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	1201 gene(s)	inside rSNPs	diseases
5	nsv428137	chr6:25987413-26351920	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1181 gene(s)	inside rSNPs	diseases
6	nsv1018665	chr6:26026870-26352046	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1116 gene(s)	inside rSNPs	diseases
7	nsv482729	chr6:26291011-26470898	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
8	nsv5230	chr6:26321593-26361531	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
9	esv3521788	chr6:26334022-26356973	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	esv3521789	chr6:26334022-26356973	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 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	chr6:26333000-26341600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:26333000-26342200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:26335600-26337600	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr6:26335800-26337600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:26335800-26337600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:26336000-26337600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr6:26336000-26337600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:26336200-26337600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:26336200-26337600	Flanking Active TSS	K562	blood
10	chr6:26336200-26337600	Enhancers	NHLF	lung
11	chr6:26336200-26338600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:26336200-26341800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr6:26336400-26337600	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr6:26336400-26337600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr6:26336400-26337600	Flanking Active TSS	Hela-S3	cervix
16	chr6:26336400-26337600	Enhancers	HUVEC	blood vessel
17	chr6:26336400-26337800	Enhancers	HMEC	breast
18	chr6:26336800-26337600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr6:26337000-26341400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:26337000-26341600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr6:26337000-26342000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr6:26337200-26337600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:26337200-26337600	Enhancers	A549	lung
24	chr6:26337200-26337600	Enhancers	NHEK	skin
25	chr6:26337200-26342000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:26337200-26342000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr6:26337200-26342000	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr6:26337400-26337600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr6:26337400-26338600	Weak transcription	HepG2	liver
30	chr6:26337400-26339000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr6:26337400-26339000	Weak transcription	Osteobl	bone
32	chr6:26337400-26339200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr6:26337400-26339400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr6:26337400-26339600	Weak transcription	NH-A	brain
35	chr6:26337400-26341200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr6:26337400-26341200	Weak transcription	GM12878-XiMat	blood
37	chr6:26337400-26341600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr6:26337400-26341600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr6:26337400-26341600	Weak transcription	Dnd41	blood
40	chr6:26337400-26341800	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr6:26337400-26341800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr6:26337400-26341800	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr6:26337400-26342000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr6:26337400-26342000	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr6:26337400-26342200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr6:26337400-26342200	Weak transcription	NHDF-Ad	bronchial

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