Variant report

Variant	rs210639
Chromosome Location	chr6:117893104-117893105
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:117891032..117893534-chr6:117922252..117923890,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000047932	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10457315	0.89[CEU][hapmap];0.87[CHB][hapmap];0.97[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10457318	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10484298	0.81[CHD][hapmap];0.84[ASN][1000 genomes]
rs10872153	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11153672	0.94[JPT][hapmap]
rs12194183	0.81[CHD][hapmap];0.81[ASN][1000 genomes]
rs12205963	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1501474	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1532680	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1759	1.00[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];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1967193	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1967194	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2062663	1.00[CHB][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2071825	0.96[CEU][hapmap];0.87[CHB][hapmap];0.97[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2088870	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs210617	0.87[ASW][hapmap];0.89[CEU][hapmap];0.87[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs210630	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs210633	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs210637	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs210642	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3752848	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4946265	0.87[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4946267	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4946269	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4946273	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];0.95[GIH][hapmap];0.89[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs67663020	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9285425	0.84[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9285426	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9320612	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9320614	0.85[EUR][1000 genomes]
rs9320616	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9320617	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9374671	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9374674	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9387491	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9401014	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9401019	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9401023	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9401025	0.81[AFR][1000 genomes]
rs9489223	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9489238	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.95[GIH][hapmap];0.89[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9765895	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9767060	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532050	chr6:117528154-118203005	ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs210639	DCBLD1	cis	multi-tissue	Pritchard

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117869800-117894400	Weak transcription	Lung	lung
2	chr6:117869800-117903800	Weak transcription	Spleen	Spleen
3	chr6:117869800-117904000	Weak transcription	Gastric	stomach
4	chr6:117869800-117904000	Weak transcription	Pancreas	Pancrea
5	chr6:117871600-117922600	Weak transcription	Stomach Mucosa	stomach
6	chr6:117872200-117894600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr6:117872200-117905600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr6:117874600-117921400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr6:117875200-117893800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr6:117876800-117919800	Weak transcription	Hela-S3	cervix
11	chr6:117877000-117903800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr6:117879800-117900400	Strong transcription	Muscle Satellite Cultured Cells	--
13	chr6:117880200-117901000	Strong transcription	Osteobl	bone
14	chr6:117880400-117895800	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr6:117880400-117900800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr6:117880600-117899800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr6:117880800-117894000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr6:117880800-117903600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr6:117880800-117903600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:117880800-117904000	Weak transcription	Aorta	Aorta
21	chr6:117880800-117904000	Weak transcription	Esophagus	oesophagus
22	chr6:117881600-117894400	Strong transcription	HMEC	breast
23	chr6:117881600-117895600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:117881600-117895800	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr6:117881600-117900800	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr6:117881600-117900800	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr6:117881800-117897000	Strong transcription	Liver	Liver
28	chr6:117881800-117901600	Strong transcription	Dnd41	blood
29	chr6:117882200-117896800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr6:117882200-117899600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr6:117882400-117894800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr6:117882400-117895800	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr6:117882600-117894800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr6:117882600-117895000	Strong transcription	Primary B cells from peripheral blood	blood
35	chr6:117882600-117916400	Weak transcription	Small Intestine	intestine
36	chr6:117883000-117902800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr6:117883200-117895400	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr6:117883400-117897200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr6:117883400-117900800	Strong transcription	HepG2	liver
40	chr6:117883800-117895800	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr6:117884000-117896400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr6:117884000-117897200	Strong transcription	Fetal Thymus	thymus
43	chr6:117884600-117897000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr6:117884600-117904000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr6:117884600-117916200	Weak transcription	Fetal Brain Male	brain
46	chr6:117885600-117894400	Weak transcription	Fetal Stomach	stomach
47	chr6:117885600-117897400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr6:117885600-117900200	Strong transcription	NH-A	brain
49	chr6:117885600-117902400	Strong transcription	HSMM	muscle
50	chr6:117885800-117900800	Strong transcription	Rectal Mucosa Donor 29	rectum

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