Variant report

Variant	rs1964537
Chromosome Location	chr11:10571351-10571352
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: 6 )

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

rs_ID	r²[population]
rs10219205	0.90[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs10219352	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1062912	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1065052	0.96[CEU][hapmap];0.88[GIH][hapmap];0.84[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10770126	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs10840431	0.84[CEU][hapmap]
rs10840435	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10840438	0.90[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs10840440	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]
rs10840441	0.90[CHB][hapmap];0.94[CHD][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs10840443	1.00[CEU][hapmap];0.85[CHB][hapmap];0.81[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10840446	0.95[CHB][hapmap];0.85[CHD][hapmap];0.85[JPT][hapmap];0.86[TSI][hapmap]
rs11042875	0.95[ASN][1000 genomes]
rs11042876	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]
rs11042877	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11042879	0.88[ASN][1000 genomes]
rs11042882	0.85[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11042883	0.92[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.88[GIH][hapmap];0.85[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11042894	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11042895	0.95[CHB][hapmap];0.82[CHD][hapmap]
rs12280275	0.81[EUR][1000 genomes]
rs12288969	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12576547	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1531479	0.96[CEU][hapmap];0.88[GIH][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16907989	0.86[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs2054392	0.96[CEU][hapmap];0.88[GIH][hapmap];0.96[MEX][hapmap];0.89[TSI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2071018	0.84[CEU][hapmap];0.80[GIH][hapmap]
rs2288236	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];0.85[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2303402	0.83[EUR][1000 genomes]
rs34466373	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34988160	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3741033	1.00[CEU][hapmap];0.85[CHB][hapmap];0.81[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3741034	0.90[CHB][hapmap];0.91[CHD][hapmap];0.81[JPT][hapmap];0.84[ASN][1000 genomes]
rs3741041	0.88[CEU][hapmap]
rs3781863	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4910162	0.89[ASN][1000 genomes]
rs61892975	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7114453	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7115310	0.85[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7115735	0.80[ASN][1000 genomes]
rs7118551	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7126245	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs724723	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7358373	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs746164	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7941294	0.88[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs918981	0.85[ASN][1000 genomes]
rs964425	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs964426	0.80[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:6)

SNP	Gene	Cis/trans	Tissue	Source
rs1964537	MRVI1	cis	normal skin	skin_eQTL
rs1964537	SNORA45	cis	cerebellum	SCAN
rs1964537	OLFML1	cis	cerebellum	SCAN
rs1964537	RNF141	cis	parietal	SCAN
rs1964537	MRVI1	cis	multi-tissue	Pritchard
rs1964537	MRVI1	cis	uninvolved skin	skin_eQTL

Chromatin state (count:5 , 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	chr11:10570600-10571400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr11:10570800-10572200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:10570800-10572200	Enhancers	NHDF-Ad	bronchial
5	chr11:10571200-10572400	Weak transcription	NHLF	lung

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