Variant report

Variant	rs6986031
Chromosome Location	chr8:62613075-62613076
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:62612675..62615533-chr8:62623174..62625946,2	MCF-7	breast:
2	chr8:62607580..62609927-chr8:62611220..62613385,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10504331	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs12375366	0.94[CEU][hapmap];0.85[EUR][1000 genomes]
rs13248720	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs13257276	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13262237	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13282552	0.95[ASN][1000 genomes]
rs1878412	0.92[EUR][1000 genomes]
rs1996376	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs35087344	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35165876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35269225	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35271095	0.92[EUR][1000 genomes]
rs36026311	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56225427	0.82[EUR][1000 genomes]
rs62505964	0.92[EUR][1000 genomes]
rs62505968	0.93[EUR][1000 genomes]
rs62505969	0.93[EUR][1000 genomes]
rs62508861	0.87[EUR][1000 genomes]
rs6471966	0.91[EUR][1000 genomes]
rs7002770	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7005567	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes]
rs7012401	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7830027	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs7835930	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs949761	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs998427	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1027742	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv539633	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv890950	chr8:62517963-62617027	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	esv2761430	chr8:62517980-62873803	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv1015216	chr8:62517980-62873803	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6986031	CA8	cis	cerebellum	SCAN

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62579400-62623000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr8:62603000-62613600	Weak transcription	Fetal Lung	lung
3	chr8:62604200-62614000	Transcr. at gene 5' and 3'	A549	lung
4	chr8:62607200-62619000	Weak transcription	NHEK	skin
5	chr8:62608600-62613800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr8:62609000-62619800	Weak transcription	Colon Smooth Muscle	Colon
7	chr8:62610000-62613200	Enhancers	Ovary	ovary
8	chr8:62610000-62621200	Weak transcription	Brain Anterior Caudate	brain
9	chr8:62610000-62624400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr8:62610200-62614400	Enhancers	Adipose Nuclei	Adipose
11	chr8:62610400-62613400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:62610400-62620000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr8:62610600-62613800	Enhancers	HepG2	liver
14	chr8:62610600-62614400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:62610800-62613600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr8:62611000-62615600	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr8:62611400-62614000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:62611400-62614000	Enhancers	NH-A	brain
19	chr8:62611400-62619400	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr8:62611600-62613400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr8:62611600-62614000	Enhancers	Fetal Thymus	thymus
22	chr8:62611800-62613200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr8:62611800-62613400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr8:62611800-62618600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:62612000-62613800	Enhancers	Primary B cells from cord blood	blood
26	chr8:62612200-62613200	Enhancers	Thymus	Thymus
27	chr8:62612200-62613800	Enhancers	Psoas Muscle	Psoas
28	chr8:62612200-62613800	Enhancers	Right Atrium	heart
29	chr8:62612200-62613800	Enhancers	Right Ventricle	heart
30	chr8:62612200-62614400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr8:62612400-62613200	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr8:62612400-62613200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr8:62612400-62613200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr8:62612400-62613200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr8:62612400-62613200	Enhancers	Brain Substantia Nigra	brain
36	chr8:62612400-62613200	Enhancers	Left Ventricle	heart
37	chr8:62612400-62613200	Flanking Active TSS	GM12878-XiMat	blood
38	chr8:62612400-62613400	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr8:62612400-62613400	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr8:62612400-62613400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr8:62612400-62613600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr8:62612400-62613800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr8:62612400-62613800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr8:62612400-62613800	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr8:62612400-62613800	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr8:62612400-62613800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr8:62612400-62613800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr8:62612400-62613800	Enhancers	Fetal Heart	heart
49	chr8:62612400-62614000	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr8:62612400-62614000	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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