Variant report

Variant	rs4261913
Chromosome Location	chr3:119546197-119546198
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	chr3:119538908..119542311-chr3:119543644..119546581,3	K562	blood:
2	chr3:119542022..119546217-chr3:119548294..119552137,4	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10433404	0.83[JPT][hapmap]
rs10934500	0.83[JPT][hapmap]
rs10934502	0.83[JPT][hapmap]
rs10934503	0.82[JPT][hapmap]
rs1154595	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs11921360	0.86[JPT][hapmap]
rs12629015	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs12634476	0.83[JPT][hapmap]
rs12634889	0.82[JPT][hapmap]
rs12638973	0.81[JPT][hapmap]
rs13321783	1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1546753	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1574154	0.83[JPT][hapmap]
rs1719890	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1719891	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1719894	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1732168	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1732170	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1903765	1.00[CEU][hapmap];0.93[GIH][hapmap];0.95[MEX][hapmap];0.84[TSI][hapmap];0.81[ASN][1000 genomes]
rs2319398	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2319399	1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.88[LWK][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2472682	0.91[CEU][hapmap];0.82[AMR][1000 genomes]
rs28536662	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.88[LWK][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2873950	0.87[JPT][hapmap]
rs3107669	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.98[TSI][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3732359	0.91[CHB][hapmap];0.86[CHD][hapmap];0.90[ASN][1000 genomes]
rs3732360	0.91[CHB][hapmap];0.91[CHD][hapmap];0.92[ASN][1000 genomes]
rs3732361	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4340737	0.83[JPT][hapmap]
rs4491945	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4624596	0.83[JPT][hapmap]
rs4688042	0.83[JPT][hapmap]
rs4688046	0.83[JPT][hapmap]
rs4688047	0.83[JPT][hapmap]
rs4688054	0.83[JPT][hapmap]
rs57695730	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58605236	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs6438552	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6438553	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6782799	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6784598	1.00[CEU][hapmap];0.91[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6785049	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.88[LWK][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6792572	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6795653	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6800622	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6805251	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.98[TSI][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6808874	0.83[JPT][hapmap]
rs6808975	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7431209	0.90[JPT][hapmap]
rs7611736	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7620750	0.82[CEU][hapmap]
rs7633279	0.83[JPT][hapmap]
rs7639388	0.87[JPT][hapmap]
rs7641045	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7644234	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9813864	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9866394	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9873477	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9878473	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9879295	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[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	nsv1011178	chr3:119437192-119589116	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv536703	chr3:119437192-119589116	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4261913	MUC13	cis	parietal	SCAN
rs4261913	GSK3B	cis	parietal	SCAN

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119529400-119566600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:119529600-119582000	Weak transcription	Spleen	Spleen
3	chr3:119532400-119551000	Weak transcription	Right Ventricle	heart
4	chr3:119534800-119558600	Weak transcription	Colonic Mucosa	Colon
5	chr3:119536200-119569000	Weak transcription	Esophagus	oesophagus
6	chr3:119536400-119570200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr3:119536600-119576000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr3:119536600-119576400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:119537000-119548200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr3:119537200-119550600	Weak transcription	Fetal Heart	heart
11	chr3:119538600-119550800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr3:119539000-119550800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr3:119539000-119576400	Weak transcription	Ovary	ovary
14	chr3:119540400-119547600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr3:119540400-119563600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr3:119540400-119574800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr3:119540400-119576600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr3:119540600-119548000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr3:119540800-119546600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr3:119540800-119547200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr3:119540800-119577000	Weak transcription	Aorta	Aorta
22	chr3:119541000-119548200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr3:119541000-119581600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr3:119541200-119561800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr3:119541200-119587000	Weak transcription	Gastric	stomach
26	chr3:119541800-119559200	Weak transcription	Pancreas	Pancrea
27	chr3:119541800-119560000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr3:119542200-119548400	Weak transcription	Colon Smooth Muscle	Colon
29	chr3:119542200-119550600	Weak transcription	NH-A	brain
30	chr3:119542400-119581200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr3:119542600-119548000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr3:119542600-119560800	Weak transcription	Hela-S3	cervix
33	chr3:119542600-119581600	Weak transcription	HUVEC	blood vessel
34	chr3:119542800-119575000	Weak transcription	Fetal Kidney	kidney
35	chr3:119543200-119546200	Strong transcription	Fetal Thymus	thymus
36	chr3:119543200-119546400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr3:119543200-119546400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr3:119543200-119546400	Strong transcription	Dnd41	blood
39	chr3:119543200-119546400	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr3:119543200-119548800	Weak transcription	Fetal Brain Male	brain
41	chr3:119543400-119546200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr3:119543400-119546200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr3:119543400-119546400	Strong transcription	Primary B cells from cord blood	blood
44	chr3:119543400-119546400	Weak transcription	Fetal Brain Female	brain
45	chr3:119543400-119546400	Strong transcription	NHEK	skin
46	chr3:119543400-119548600	Strong transcription	Primary T cells from cord blood	blood
47	chr3:119543400-119549000	Weak transcription	Brain Substantia Nigra	brain
48	chr3:119543600-119546200	Strong transcription	Placenta	Placenta
49	chr3:119543600-119546400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr3:119543800-119548000	Weak transcription	Stomach Mucosa	stomach

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