Variant report

Variant	rs1497016
Chromosome Location	chr4:101800848-101800849
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10001585	0.96[ASN][1000 genomes]
rs10010483	0.98[ASN][1000 genomes]
rs10010652	0.98[ASN][1000 genomes]
rs10010839	0.98[ASN][1000 genomes]
rs10012835	0.99[EUR][1000 genomes]
rs10013351	0.98[ASN][1000 genomes]
rs10019942	0.96[ASN][1000 genomes]
rs10031159	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10032208	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10049744	0.96[ASN][1000 genomes]
rs1032571	0.98[ASN][1000 genomes]
rs12646623	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12710943	0.92[ASN][1000 genomes]
rs13117083	1.00[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap];0.83[YRI][hapmap]
rs13117493	0.98[ASN][1000 genomes]
rs13117589	0.84[CHB][hapmap]
rs13118293	0.98[ASN][1000 genomes]
rs13131002	1.00[ASN][1000 genomes]
rs13132631	1.00[ASN][1000 genomes]
rs13134885	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13135380	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13140872	0.98[ASN][1000 genomes]
rs13434725	0.96[ASN][1000 genomes]
rs13434734	0.96[ASN][1000 genomes]
rs13435486	0.96[ASN][1000 genomes]
rs1566120	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1587240	0.88[ASN][1000 genomes]
rs17030633	0.96[ASN][1000 genomes]
rs2132697	1.00[ASN][1000 genomes]
rs2220988	0.96[ASN][1000 genomes]
rs2866249	1.00[ASN][1000 genomes]
rs2866250	1.00[ASN][1000 genomes]
rs28707515	0.98[ASN][1000 genomes]
rs28791596	0.98[ASN][1000 genomes]
rs28849460	0.98[ASN][1000 genomes]
rs34381813	0.98[ASN][1000 genomes]
rs34389434	0.98[ASN][1000 genomes]
rs34571175	0.96[ASN][1000 genomes]
rs4699140	1.00[ASN][1000 genomes]
rs4699162	1.00[ASN][1000 genomes]
rs4699218	1.00[ASN][1000 genomes]
rs62307728	0.96[ASN][1000 genomes]
rs6532915	0.98[ASN][1000 genomes]
rs67935705	0.98[ASN][1000 genomes]
rs6817249	0.98[ASN][1000 genomes]
rs6817484	0.98[ASN][1000 genomes]
rs6824227	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6840166	0.98[ASN][1000 genomes]
rs6840505	0.98[ASN][1000 genomes]
rs6840909	1.00[ASN][1000 genomes]
rs7665292	0.98[ASN][1000 genomes]
rs7694484	0.98[ASN][1000 genomes]
rs7694622	0.96[ASN][1000 genomes]
rs7695271	0.98[ASN][1000 genomes]
rs7695375	0.98[ASN][1000 genomes]
rs978155	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv931418	chr4:101500167-102443207	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1497016	BANK1	cis	cerebellum	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:101800600-101801200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr4:101800600-101801400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:101800600-101801600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:101800800-101801200	Enhancers	HUVEC	blood vessel

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