Variant report

Variant	rs6908760
Chromosome Location	chr6:11733777-11733778
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MTA3	chr6:11730668-11733834	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:11722035..11725191-chr6:11730801..11735491,4	K562	blood:
2	chr6:11723926..11725711-chr6:11733477..11735503,2	MCF-7	breast:
3	chr6:11732175..11734663-chr6:11982258..11984188,2	MCF-7	breast:
4	chr6:11733150..11736062-chr6:12007778..12010289,2	K562	blood:
5	chr6:11731733..11734169-chr6:11735074..11737583,2	K562	blood:
6	chr6:11723063..11725185-chr6:11732645..11735491,2	K562	blood:

No data

Variant related genes	Relation type
ADTRP	TF binding region
ENSG00000111863	Chromatin interaction
ENSG00000095951	Chromatin interaction
ENSG00000229896	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12189748	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12198491	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12211506	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs210925	0.85[CHB][hapmap]
rs2235396	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2235397	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2235411	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs4713852	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6457825	0.85[CHB][hapmap]
rs6911562	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6938865	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9368866	0.85[CHB][hapmap]
rs9380503	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs9394295	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9462058	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9469947	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9469963	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[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	esv2758036	chr6:11679753-11822351	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2759407	chr6:11679753-11822351	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv428470	chr6:11686198-11747850	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv462637	chr6:11710554-11733777	Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv600990	chr6:11710554-11733777	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6908760	SIRT5	cis	parietal	SCAN
rs6908760	C6orf52	cis	cerebellum	SCAN

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11719400-11762200	Weak transcription	Colonic Mucosa	Colon
2	chr6:11723200-11738400	Weak transcription	HMEC	breast
3	chr6:11723600-11744200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:11725200-11748600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:11726400-11744600	Weak transcription	Right Atrium	heart
6	chr6:11727000-11734000	Enhancers	Primary hematopoietic stem cells	blood
7	chr6:11729600-11734000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr6:11730200-11736200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:11731400-11734800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr6:11732000-11735800	Weak transcription	Spleen	Spleen
11	chr6:11732000-11737400	Weak transcription	Ovary	ovary
12	chr6:11732400-11734200	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr6:11732400-11736200	Strong transcription	NHEK	skin
14	chr6:11732400-11744800	Weak transcription	Fetal Intestine Small	intestine
15	chr6:11732400-11750400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr6:11732600-11740000	Weak transcription	Psoas Muscle	Psoas
17	chr6:11732800-11735000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr6:11732800-11735200	Weak transcription	Stomach Mucosa	stomach
19	chr6:11732800-11738800	Weak transcription	Small Intestine	intestine
20	chr6:11732800-11750400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr6:11733000-11734200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr6:11733000-11736000	Enhancers	GM12878-XiMat	blood
23	chr6:11733000-11736800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr6:11733000-11737000	Weak transcription	Fetal Muscle Leg	muscle
25	chr6:11733000-11741400	Weak transcription	HSMM	muscle
26	chr6:11733200-11734800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:11733200-11734800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr6:11733200-11735200	Weak transcription	Fetal Thymus	thymus
29	chr6:11733200-11735200	Weak transcription	Pancreas	Pancrea
30	chr6:11733200-11735800	Weak transcription	Gastric	stomach
31	chr6:11733400-11733800	Weak transcription	Esophagus	oesophagus
32	chr6:11733400-11734600	Strong transcription	HSMMtube	muscle
33	chr6:11733400-11735200	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr6:11733400-11738400	Weak transcription	Adipose Nuclei	Adipose
35	chr6:11733600-11734400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr6:11733600-11734600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr6:11733600-11735600	Strong transcription	Duodenum Mucosa	Duodenum
38	chr6:11733600-11736200	Weak transcription	Fetal Brain Male	brain
39	chr6:11733600-11738200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr6:11733600-11738400	Weak transcription	Monocytes-CD14+_RO01746	blood

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