Variant report

Variant	rs10840440
Chromosome Location	chr11:10572464-10572465
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:10571236..10574096-chr11:10580383..10582938,2	K562	blood:
2	chr11:10560841..10564644-chr11:10570960..10574238,3	K562	blood:

Variant related genes	Relation type
ENSG00000177112	Chromatin interaction
ENSG00000110315	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10219205	0.90[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs10219352	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1062912	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1065052	0.81[CEU][hapmap];0.83[EUR][1000 genomes]
rs10770126	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs10840435	0.83[EUR][1000 genomes]
rs10840438	0.91[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs10840441	0.90[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs10840443	0.89[CEU][hapmap];0.86[CHB][hapmap];0.80[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10840446	0.95[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs10840448	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11042875	0.93[ASN][1000 genomes]
rs11042876	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11042877	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11042879	0.89[ASN][1000 genomes]
rs11042882	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11042883	0.81[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11042894	0.85[ASN][1000 genomes]
rs11042895	0.95[CHB][hapmap]
rs11042897	0.80[ASN][1000 genomes]
rs12288969	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12576547	0.80[ASN][1000 genomes]
rs1531479	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs16907989	0.86[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs1964537	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2054392	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs2288236	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34466373	0.83[EUR][1000 genomes]
rs34988160	0.80[ASN][1000 genomes]
rs3741033	0.89[CEU][hapmap];0.86[CHB][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3741034	0.90[CHB][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs3781863	0.83[EUR][1000 genomes]
rs4910162	0.91[ASN][1000 genomes]
rs7114453	0.82[ASN][1000 genomes]
rs7115310	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7115735	0.81[ASN][1000 genomes]
rs7118551	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7126245	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs724723	0.82[ASN][1000 genomes]
rs7358373	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs746164	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7941294	0.93[ASN][1000 genomes]
rs918981	0.86[ASN][1000 genomes]
rs964425	0.80[ASN][1000 genomes]
rs964426	0.82[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	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10840440	MRVI1	cis	multi-tissue	Pritchard
rs10840440	MRVI1	cis	normal skin	skin_eQTL

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10566200-10572800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:10571800-10573000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:10571800-10573000	Enhancers	Osteobl	bone
4	chr11:10571800-10573200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr11:10571800-10573200	Enhancers	A549	lung
6	chr11:10571800-10573200	Enhancers	HepG2	liver
7	chr11:10571800-10573400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr11:10572000-10572600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:10572000-10572600	Enhancers	HSMM	muscle
10	chr11:10572000-10572600	Enhancers	HUVEC	blood vessel
11	chr11:10572000-10572800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr11:10572000-10573200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:10572000-10573200	Enhancers	Hela-S3	cervix
14	chr11:10572000-10573200	Enhancers	NH-A	brain
15	chr11:10572200-10572600	Flanking Active TSS	NHDF-Ad	bronchial
16	chr11:10572200-10572800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:10572400-10573200	Enhancers	NHLF	lung

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