Variant report

Variant	rs1462490
Chromosome Location	chr6:110396676-110396677
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:110393980..110396773-chr6:110396779..110399595,3	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs11153226	1.00[CEU][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.89[MKK][hapmap];0.95[TSI][hapmap];0.85[YRI][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11751590	0.91[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.95[TSI][hapmap];0.82[ASN][1000 genomes]
rs11757055	0.91[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.95[TSI][hapmap];0.82[ASN][1000 genomes]
rs12110744	0.83[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12660119	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12660791	0.91[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.95[TSI][hapmap];0.86[ASN][1000 genomes]
rs12665858	0.83[ASN][1000 genomes]
rs1462492	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1462493	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2002630	0.91[ASN][1000 genomes]
rs4257894	0.94[CEU][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.91[TSI][hapmap];0.84[YRI][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4299857	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs4339500	0.88[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.95[TSI][hapmap]
rs4509164	1.00[CEU][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.93[MEX][hapmap];0.89[MKK][hapmap];0.95[TSI][hapmap];0.85[YRI][hapmap];0.85[EUR][1000 genomes]
rs4945850	1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.95[TSI][hapmap];0.85[YRI][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4945851	0.94[CEU][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.85[YRI][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4947048	0.84[ASN][1000 genomes]
rs4947051	0.91[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.95[TSI][hapmap];0.82[ASN][1000 genomes]
rs4947058	0.88[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap]
rs56122480	0.86[ASN][1000 genomes]
rs56135788	0.85[ASN][1000 genomes]
rs56287427	0.84[ASN][1000 genomes]
rs57983455	0.81[ASN][1000 genomes]
rs60495849	0.88[ASN][1000 genomes]
rs61020234	0.91[ASN][1000 genomes]
rs6568633	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6568634	0.91[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.95[TSI][hapmap]
rs6912291	0.92[ASN][1000 genomes]
rs6913554	0.91[CHD][hapmap];0.82[GIH][hapmap];0.93[MEX][hapmap];0.82[ASN][1000 genomes]
rs6915379	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6918148	0.84[CHD][hapmap];0.85[GIH][hapmap];0.92[JPT][hapmap];0.86[MEX][hapmap];0.94[TSI][hapmap]
rs6925392	0.90[ASN][1000 genomes]
rs6926540	0.82[ASN][1000 genomes]
rs6927667	0.84[ASN][1000 genomes]
rs6927697	1.00[CEU][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.95[TSI][hapmap];0.85[YRI][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6927722	0.85[CHB][hapmap];0.97[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.88[ASN][1000 genomes]
rs6928684	0.82[ASN][1000 genomes]
rs6938106	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.85[EUR][1000 genomes]
rs6938139	0.88[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap]
rs6938653	1.00[JPT][hapmap]
rs719849	0.85[ASN][1000 genomes]
rs73533834	1.00[ASN][1000 genomes]
rs73535810	0.88[ASN][1000 genomes]
rs73535817	0.86[ASN][1000 genomes]
rs73535821	0.86[ASN][1000 genomes]
rs73535837	0.84[ASN][1000 genomes]
rs73535838	0.84[ASN][1000 genomes]
rs73537927	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73537938	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7744828	1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs7747842	0.96[ASN][1000 genomes]
rs9372247	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9372248	0.95[ASN][1000 genomes]
rs9374156	1.00[ASN][1000 genomes]
rs9400359	1.00[ASN][1000 genomes]
rs9400360	1.00[ASN][1000 genomes]
rs9481047	1.00[JPT][hapmap]
rs9481048	1.00[JPT][hapmap]
rs9487318	1.00[JPT][hapmap]
rs9487319	1.00[JPT][hapmap]
rs9487321	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886535	chr6:110377006-110551463	Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv1017551	chr6:110385054-110413225	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv1023185	chr6:110386197-110416868	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv1029169	chr6:110389869-110413225	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv2757188	chr6:110389926-110504680	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	esv2759462	chr6:110389926-110504680	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	esv2763956	chr6:110394513-110413237	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv2761056	chr6:110394513-110415428	Enhancers Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
9	nsv1017890	chr6:110394894-110416868	Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
10	nsv7954	chr6:110395986-110413365	Enhancers Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv33686	chr6:110396119-110413310	Weak transcription Enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
12	nsv604487	chr6:110396540-110406212	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv604488	chr6:110396540-110406426	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
14	nsv604489	chr6:110396540-110408904	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv604490	chr6:110396540-110411065	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv604491	chr6:110396540-110412259	Weak transcription Enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
17	nsv1026085	chr6:110396676-110420721	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1462490	WASF1	cis	Artery Tibial	GTEx
rs1462490	WASF1	cis	Muscle Skeletal	GTEx
rs1462490	WASF1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:110390000-110405200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:110391200-110398000	Weak transcription	Fetal Heart	heart
3	chr6:110396200-110396800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr6:110396200-110397000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:110396200-110397000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr6:110396200-110397200	Enhancers	HMEC	breast
7	chr6:110396400-110397000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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