Variant report

Variant	rs6720763
Chromosome Location	chr2:167992286-167992287
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10451542	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[CHD][hapmap];0.86[GIH][hapmap];0.94[TSI][hapmap];0.88[EUR][1000 genomes]
rs1155284	0.93[CEU][hapmap];0.82[CHB][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes]
rs1155285	0.86[EUR][1000 genomes]
rs11888230	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11893404	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11902653	1.00[CEU][hapmap];0.81[GIH][hapmap];0.92[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1346722	0.82[CEU][hapmap];0.91[CHB][hapmap]
rs1479592	0.93[CEU][hapmap];0.82[EUR][1000 genomes]
rs16853050	0.93[CEU][hapmap];0.89[CHB][hapmap];0.86[EUR][1000 genomes]
rs16853057	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[CHD][hapmap];0.86[GIH][hapmap];0.97[TSI][hapmap];0.94[EUR][1000 genomes]
rs4000962	0.83[EUR][1000 genomes]
rs4533448	1.00[CEU][hapmap];0.81[GIH][hapmap];0.94[TSI][hapmap];0.84[EUR][1000 genomes]
rs55733637	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58616240	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6432974	0.84[CHD][hapmap]
rs6432979	0.88[EUR][1000 genomes]
rs66701411	0.94[EUR][1000 genomes]
rs67074513	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6711844	1.00[CEU][hapmap];0.82[CHB][hapmap];0.90[EUR][1000 genomes]
rs6720352	0.93[CEU][hapmap];0.82[CHB][hapmap];0.88[EUR][1000 genomes]
rs67386767	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs67726376	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73017939	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7556854	0.81[GIH][hapmap]
rs7569147	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[GIH][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7575729	0.87[EUR][1000 genomes]
rs988445	1.00[CEU][hapmap];0.86[CHD][hapmap];0.86[GIH][hapmap];0.94[TSI][hapmap];0.89[EUR][1000 genomes]
rs998899	0.93[CEU][hapmap];0.95[CHB][hapmap];0.87[CHD][hapmap];0.80[JPT][hapmap];0.84[TSI][hapmap];0.90[EUR][1000 genomes];0.80[ASN][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	nsv875376	chr2:167844513-168037489	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6720763	KBTBD10	cis	cerebellum	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:167989200-167998600	Weak transcription	Left Ventricle	heart
2	chr2:167989400-167993400	Weak transcription	Psoas Muscle	Psoas
3	chr2:167989800-167993400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:167989800-167994200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr2:167990200-167992400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:167990200-167992600	Enhancers	HMEC	breast
7	chr2:167990200-167992600	Enhancers	NHDF-Ad	bronchial
8	chr2:167990200-167992600	Enhancers	Osteobl	bone
9	chr2:167990200-167995200	Enhancers	NHLF	lung
10	chr2:167990400-167993400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:167990400-167996600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:167991000-167992600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:167991000-167992600	Enhancers	HSMM	muscle
14	chr2:167991000-167992600	Enhancers	NH-A	brain
15	chr2:167991000-167992800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:167991000-167992800	Enhancers	HUVEC	blood vessel
17	chr2:167991000-167993800	Enhancers	Primary hematopoietic stem cells	blood
18	chr2:167991200-167992400	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr2:167991400-167992600	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr2:167991400-167992600	Enhancers	Fetal Thymus	thymus
21	chr2:167991400-167992800	Enhancers	Fetal Lung	lung
22	chr2:167991600-167993400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:167991600-167997000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:167991800-167992400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr2:167991800-167992600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:167991800-167992600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:167992000-167992600	Enhancers	Brain Germinal Matrix	brain
28	chr2:167992000-167992600	Enhancers	Fetal Kidney	kidney
29	chr2:167992000-167992800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr2:167992000-167993400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr2:167992000-167993600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:167992000-167994000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:167992000-167994000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:167992000-167996800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:167992200-167992400	Enhancers	Fetal Heart	heart
36	chr2:167992200-167992600	Enhancers	Thymus	Thymus
37	chr2:167992200-167993000	Enhancers	Primary T cells from cord blood	blood
38	chr2:167992200-167996800	Weak transcription	HSMMtube	muscle
39	chr2:167992200-167999800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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