Variant report

Variant	rs11042876
Chromosome Location	chr11:10572232-10572233
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	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: 50 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10219205	0.90[CHB][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs10219352	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1062912	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1065052	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10770126	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs10840431	0.84[CEU][hapmap]
rs10840435	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10840438	0.91[CHB][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs10840440	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]
rs10840441	0.90[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs10840443	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10840446	0.95[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs11042875	0.94[ASN][1000 genomes]
rs11042877	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11042879	0.89[ASN][1000 genomes]
rs11042882	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11042883	0.92[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11042894	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11042895	0.95[CHB][hapmap];0.80[JPT][hapmap]
rs12280275	0.81[EUR][1000 genomes]
rs12288969	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12576547	0.83[EUR][1000 genomes]
rs1531479	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16907989	0.86[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs1964537	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2054392	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2071018	0.84[CEU][hapmap]
rs2288236	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2303402	0.83[EUR][1000 genomes]
rs34466373	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34988160	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3741033	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3741034	0.90[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs3741041	0.88[CEU][hapmap]
rs3781863	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4910162	0.90[ASN][1000 genomes]
rs61892975	0.83[EUR][1000 genomes]
rs7114453	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7115310	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7115735	0.81[ASN][1000 genomes]
rs7118551	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7126245	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs724723	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7358373	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs746164	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7941294	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs918981	0.85[ASN][1000 genomes]
rs964425	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs964426	0.81[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
rs11042876	MRVI1	cis	uninvolved skin	skin_eQTL
rs11042876	MRVI1	cis	normal skin	skin_eQTL

Chromatin state (count:18 , 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	chr11:10571200-10572400	Weak transcription	NHLF	lung
3	chr11:10571800-10573000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:10571800-10573000	Enhancers	Osteobl	bone
5	chr11:10571800-10573200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr11:10571800-10573200	Enhancers	A549	lung
7	chr11:10571800-10573200	Enhancers	HepG2	liver
8	chr11:10571800-10573400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr11:10572000-10572400	Enhancers	NHEK	skin
10	chr11:10572000-10572600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:10572000-10572600	Enhancers	HSMM	muscle
12	chr11:10572000-10572600	Enhancers	HUVEC	blood vessel
13	chr11:10572000-10572800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:10572000-10573200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr11:10572000-10573200	Enhancers	Hela-S3	cervix
16	chr11:10572000-10573200	Enhancers	NH-A	brain
17	chr11:10572200-10572600	Flanking Active TSS	NHDF-Ad	bronchial
18	chr11:10572200-10572800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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