Variant report

Variant	rs7651265
Chromosome Location	chr3:178893029-178893030
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:178883467..178885785-chr3:178891482..178893959,2	K562	blood:
2	chr3:178891781..178894758-chr3:178901909..178904636,2	MCF-7	breast:
3	chr3:178892192..178894702-chr3:178896410..178899147,2	K562	blood:

Extended variants
information (count: 122 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs1059691	0.90[ASN][1000 genomes]
rs10936992	0.86[ASN][1000 genomes]
rs11706842	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs11708869	1.00[ASN][1000 genomes]
rs1183319	0.86[CHD][hapmap]
rs11918324	0.97[ASN][1000 genomes]
rs11918587	1.00[ASN][1000 genomes]
rs11919383	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[MEX][hapmap];0.90[ASN][1000 genomes]
rs11922631	1.00[CHB][hapmap];0.91[YRI][hapmap];0.90[ASN][1000 genomes]
rs11924545	0.89[ASN][1000 genomes]
rs11924547	1.00[ASN][1000 genomes]
rs11924600	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11925655	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12488074	0.82[CHB][hapmap];1.00[CHD][hapmap];0.86[MEX][hapmap];0.88[ASN][1000 genomes]
rs1568205	0.88[ASN][1000 genomes]
rs17849071	0.97[ASN][1000 genomes]
rs1850504	0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1970901	0.82[CHB][hapmap];0.92[CHD][hapmap];0.88[ASN][1000 genomes]
rs1976765	1.00[ASN][1000 genomes]
rs2865082	0.97[ASN][1000 genomes]
rs3729674	0.82[CHB][hapmap];1.00[CHD][hapmap];0.88[ASN][1000 genomes]
rs3729676	1.00[CHD][hapmap];0.88[ASN][1000 genomes]
rs3729682	0.97[ASN][1000 genomes]
rs3729694	0.97[ASN][1000 genomes]
rs3960984	1.00[CHB][hapmap];0.85[GIH][hapmap]
rs3975513	0.88[ASN][1000 genomes]
rs3976507	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4080957	0.90[ASN][1000 genomes]
rs4855093	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[ASN][1000 genomes]
rs4855095	1.00[CHB][hapmap];0.86[MEX][hapmap]
rs55685804	0.97[ASN][1000 genomes]
rs55933053	1.00[ASN][1000 genomes]
rs55961756	0.97[ASN][1000 genomes]
rs56095736	0.90[ASN][1000 genomes]
rs56143971	0.97[ASN][1000 genomes]
rs56372555	1.00[ASN][1000 genomes]
rs56378415	0.95[ASN][1000 genomes]
rs57299654	0.82[ASN][1000 genomes]
rs59340081	1.00[ASN][1000 genomes]
rs59408989	0.95[ASN][1000 genomes]
rs59922883	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61796482	0.97[ASN][1000 genomes]
rs61796483	0.90[ASN][1000 genomes]
rs62408837	0.82[ASN][1000 genomes]
rs6443619	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs6443624	0.82[CHB][hapmap];0.92[CHD][hapmap];0.90[ASN][1000 genomes]
rs6443625	0.88[ASN][1000 genomes]
rs6443626	1.00[ASN][1000 genomes]
rs6443627	1.00[ASN][1000 genomes]
rs6443628	0.90[ASN][1000 genomes]
rs6443629	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[ASN][1000 genomes]
rs67562832	0.95[ASN][1000 genomes]
rs67609137	1.00[ASN][1000 genomes]
rs6765953	0.97[ASN][1000 genomes]
rs6767284	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6769154	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[MEX][hapmap];0.90[ASN][1000 genomes]
rs6769162	0.90[ASN][1000 genomes]
rs6769508	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6770267	1.00[ASN][1000 genomes]
rs6771313	0.90[ASN][1000 genomes]
rs6774158	0.97[ASN][1000 genomes]
rs6777203	0.97[ASN][1000 genomes]
rs6782557	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs6786049	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6786114	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs6791153	0.97[ASN][1000 genomes]
rs67920954	0.97[ASN][1000 genomes]
rs6792189	1.00[ASN][1000 genomes]
rs6794252	0.86[ASN][1000 genomes]
rs6797304	1.00[ASN][1000 genomes]
rs6798817	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs6799756	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6803076	0.88[ASN][1000 genomes]
rs6803219	0.88[ASN][1000 genomes]
rs6806555	1.00[ASN][1000 genomes]
rs6806917	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[MEX][hapmap];0.90[ASN][1000 genomes]
rs6810246	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[ASN][1000 genomes]
rs73051974	1.00[ASN][1000 genomes]
rs73187264	0.97[ASN][1000 genomes]
rs73187276	0.97[ASN][1000 genomes]
rs7372645	0.90[ASN][1000 genomes]
rs7612533	1.00[ASN][1000 genomes]
rs7614305	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[MEX][hapmap];0.88[ASN][1000 genomes]
rs7614418	0.97[ASN][1000 genomes]
rs7615076	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[MEX][hapmap];0.90[ASN][1000 genomes]
rs7621329	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[MEX][hapmap];0.90[ASN][1000 genomes]
rs7621436	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[MEX][hapmap];0.90[ASN][1000 genomes]
rs7623154	0.82[CHB][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.97[ASN][1000 genomes]
rs7624090	0.97[ASN][1000 genomes]
rs7627273	1.00[ASN][1000 genomes]
rs7628855	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs7635669	1.00[CHB][hapmap];0.90[GIH][hapmap];0.86[MEX][hapmap]
rs7636454	0.82[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.97[ASN][1000 genomes]
rs7638323	0.82[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7638649	1.00[ASN][1000 genomes]
rs7641889	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs7641983	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[MEX][hapmap];0.90[ASN][1000 genomes]
rs7644648	1.00[CHB][hapmap]
rs7645550	0.86[CHD][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs7646409	0.82[CHB][hapmap];1.00[CHD][hapmap];0.86[MEX][hapmap];0.88[ASN][1000 genomes]
rs7648857	1.00[ASN][1000 genomes]
rs7650809	0.83[ASN][1000 genomes]
rs938752	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9631497	0.95[ASN][1000 genomes]
rs9813190	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs9819762	0.97[ASN][1000 genomes]
rs9829903	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs9831234	1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[MEX][hapmap];0.90[ASN][1000 genomes]
rs9833438	0.90[ASN][1000 genomes]
rs9838411	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];1.00[ASN][1000 genomes]
rs9839519	1.00[ASN][1000 genomes]
rs9841051	0.88[ASN][1000 genomes]
rs9844270	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs9844482	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[ASN][1000 genomes]
rs9850621	1.00[ASN][1000 genomes]
rs9862294	0.95[ASN][1000 genomes]
rs9866361	0.82[CHB][hapmap];0.92[CHD][hapmap];0.88[ASN][1000 genomes]
rs9877812	1.00[ASN][1000 genomes]
rs9881887	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998253	chr3:178622707-179196274	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv536814	chr3:178622707-179196274	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	esv3354111	chr3:178833305-179156908	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7651265	KCNMB2	cis	cerebellum	SCAN
rs7651265	KCNMB3	cis	lymphoblastoid	seeQTL

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:178867800-178900200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr3:178869200-178898000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr3:178870800-178896400	Weak transcription	K562	blood
4	chr3:178877400-178897800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:178879400-178896400	Weak transcription	Right Atrium	heart
6	chr3:178879600-178896400	Weak transcription	Left Ventricle	heart
7	chr3:178883600-178893600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr3:178883800-178905800	Weak transcription	Fetal Kidney	kidney
9	chr3:178887200-178912000	Weak transcription	Thymus	Thymus
10	chr3:178888000-178898800	Weak transcription	Fetal Brain Male	brain
11	chr3:178888800-178896800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr3:178890800-178896600	Weak transcription	Fetal Lung	lung
13	chr3:178891400-178893400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr3:178891600-178894000	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr3:178891800-178893400	Enhancers	Primary B cells from peripheral blood	blood
16	chr3:178891800-178893400	Enhancers	GM12878-XiMat	blood
17	chr3:178891800-178894200	Enhancers	Primary B cells from cord blood	blood
18	chr3:178891800-178894400	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr3:178891800-178894600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr3:178892000-178893200	Enhancers	Primary T cells from cord blood	blood
21	chr3:178892200-178893600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr3:178892200-178894000	Weak transcription	Lung	lung
23	chr3:178892200-178894200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr3:178892200-178896400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr3:178892400-178893200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr3:178892400-178893400	Enhancers	HUVEC	blood vessel
27	chr3:178892400-178893600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr3:178892400-178894200	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr3:178892400-178894400	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr3:178892400-178895800	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr3:178892400-178896600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr3:178892600-178894000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr3:178892600-178894400	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr3:178892600-178894400	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr3:178892800-178893200	Enhancers	Osteobl	bone
36	chr3:178892800-178893400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr3:178892800-178893400	Enhancers	Psoas Muscle	Psoas
38	chr3:178892800-178893600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr3:178892800-178893600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr3:178892800-178893600	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr3:178892800-178893600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr3:178892800-178893800	Enhancers	Small Intestine	intestine
43	chr3:178892800-178893800	Enhancers	NHDF-Ad	bronchial
44	chr3:178892800-178894000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr3:178892800-178894400	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr3:178892800-178897800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr3:178893000-178893200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr3:178893000-178893200	Active TSS	Aorta	Aorta
49	chr3:178893000-178893400	Enhancers	NH-A	brain
50	chr3:178893000-178893600	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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