Variant report

Variant	rs877010
Chromosome Location	chr6:5679226-5679227
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	chr6:5668378..5671034-chr6:5677672..5680311,2	K562	blood:
2	chr6:5678900..5683178-chr6:5683336..5687695,5	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1001568	0.84[CHB][hapmap]
rs11752777	0.82[CEU][hapmap];0.90[CHB][hapmap];0.94[CHD][hapmap];0.89[JPT][hapmap];0.83[TSI][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13213128	0.96[CEU][hapmap];0.94[CHB][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2005970	0.86[EUR][1000 genomes]
rs2142738	0.90[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs2326634	0.81[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs4140654	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs4959347	0.96[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.84[GIH][hapmap];0.91[TSI][hapmap];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4960125	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.84[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4960126	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62385480	0.87[ASN][1000 genomes]
rs62408067	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6918383	0.84[ASN][1000 genomes]
rs6918561	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs6918675	0.80[CHB][hapmap];0.90[JPT][hapmap]
rs760675	0.90[CHB][hapmap];0.84[CHD][hapmap]
rs7739358	0.84[CHB][hapmap]
rs7746913	0.96[CEU][hapmap];0.95[CHB][hapmap];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs878988	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs9328328	0.82[CHB][hapmap]
rs9378979	0.85[CEU][hapmap];0.90[CHB][hapmap];0.91[CHD][hapmap];0.85[JPT][hapmap];0.80[MEX][hapmap];0.82[MKK][hapmap];0.85[TSI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9378980	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.84[JPT][hapmap];0.91[TSI][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9378983	0.80[CHB][hapmap]
rs9392709	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9392710	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9405280	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9405281	0.85[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.84[JPT][hapmap];0.85[TSI][hapmap];0.86[EUR][1000 genomes]
rs9405859	0.89[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.84[JPT][hapmap];0.87[TSI][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9405861	0.95[CHB][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9504488	0.82[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];0.84[JPT][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916361	chr6:5315853-5695486	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv600887	chr6:5545046-5694713	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs877010	BMP6	cis	cerebellum	SCAN
rs877010	NQO2	cis	parietal	SCAN

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5671800-5680000	Weak transcription	HepG2	liver
2	chr6:5672200-5679600	Weak transcription	Primary B cells from cord blood	blood
3	chr6:5672200-5705800	Weak transcription	Thymus	Thymus
4	chr6:5672400-5685600	Weak transcription	Aorta	Aorta
5	chr6:5672600-5679800	Weak transcription	GM12878-XiMat	blood
6	chr6:5672600-5680000	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr6:5673200-5679400	Weak transcription	Fetal Kidney	kidney
8	chr6:5673200-5679800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:5673200-5680200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:5673400-5679600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr6:5673400-5679800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr6:5673800-5679600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr6:5673800-5682800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:5673800-5701200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr6:5673800-5709800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr6:5674000-5679600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr6:5674000-5680400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr6:5674000-5680600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr6:5674000-5681800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr6:5674200-5679400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr6:5674400-5683600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr6:5674800-5680200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr6:5674800-5680400	Weak transcription	Left Ventricle	heart
24	chr6:5674800-5681600	Weak transcription	Fetal Thymus	thymus
25	chr6:5678000-5679600	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr6:5678000-5682200	Enhancers	Primary T cells from cord blood	blood
27	chr6:5678000-5682400	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr6:5678000-5686200	Weak transcription	Gastric	stomach
29	chr6:5678000-5709400	Weak transcription	Pancreas	Pancrea
30	chr6:5678200-5679600	Weak transcription	Adipose Nuclei	Adipose
31	chr6:5678200-5679800	Weak transcription	Fetal Heart	heart
32	chr6:5678200-5681600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr6:5678200-5681800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:5678200-5694000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr6:5678400-5681200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr6:5678400-5681200	Weak transcription	Osteobl	bone
37	chr6:5678400-5681600	Weak transcription	NHDF-Ad	bronchial
38	chr6:5678400-5693400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr6:5678600-5686600	Weak transcription	Right Atrium	heart
40	chr6:5678800-5680600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr6:5678800-5681800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr6:5679200-5680000	Enhancers	Spleen	Spleen
43	chr6:5679200-5680600	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr6:5679200-5680600	Enhancers	Fetal Muscle Leg	muscle
45	chr6:5679200-5682400	Enhancers	Primary B cells from peripheral blood	blood
46	chr6:5679200-5682400	Enhancers	Primary T helper cells PMA-I stimulated	--

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