Variant report

Variant	rs584084
Chromosome Location	chr11:93572619-93572620
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:93539702..93541221-chr11:93572458..93574620,2	K562	blood:
2	chr11:93539721..93541976-chr11:93572458..93575001,2	K562	blood:

Variant related genes	Relation type
ENSG00000042429	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10765635	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11020532	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11020533	0.91[EUR][1000 genomes]
rs1150326	0.92[ASN][1000 genomes]
rs1298531	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs16919444	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34057693	0.89[ASN][1000 genomes]
rs3763808	0.85[ASN][1000 genomes]
rs55734929	0.85[ASN][1000 genomes]
rs58063272	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58976781	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59726694	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs598495	0.90[CHB][hapmap]
rs601792	0.87[ASN][1000 genomes]
rs61498836	0.82[ASN][1000 genomes]
rs615428	0.82[ASN][1000 genomes]
rs61904953	0.82[ASN][1000 genomes]
rs61904957	0.85[ASN][1000 genomes]
rs61906576	0.88[ASN][1000 genomes]
rs61906579	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs625359	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs625685	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs626216	0.85[ASN][1000 genomes]
rs636482	0.87[ASN][1000 genomes]
rs654896	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs664257	1.00[CHB][hapmap]
rs66487029	0.83[ASN][1000 genomes]
rs66760087	0.85[ASN][1000 genomes]
rs66887806	0.88[ASN][1000 genomes]
rs669565	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs66963387	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs670391	0.87[ASN][1000 genomes]
rs67594435	0.83[ASN][1000 genomes]
rs677019	0.90[CHB][hapmap];0.87[ASN][1000 genomes]
rs67734074	0.80[ASN][1000 genomes]
rs679241	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs687507	0.81[CEU][hapmap]
rs7103466	0.93[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7114611	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7115115	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7119738	0.93[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7125525	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7125919	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7126745	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7129970	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7924366	0.93[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7949505	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv898182	chr11:93381845-93637462	Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs584084	C11orf54	cis	Esophagus Mucosa	GTEx

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93565000-93575200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr11:93565400-93575400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr11:93566200-93577000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:93567800-93575600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr11:93570400-93579200	Enhancers	Stomach Mucosa	stomach
6	chr11:93571400-93574400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:93572200-93572800	Enhancers	Fetal Intestine Small	intestine
8	chr11:93572200-93573200	Enhancers	Placenta	Placenta
9	chr11:93572600-93573000	Enhancers	Fetal Intestine Large	intestine
10	chr11:93572600-93573000	Bivalent Enhancer	HepG2	liver
11	chr11:93572600-93582800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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