Variant report

Variant	rs11234582
Chromosome Location	chr11:85927952-85927953
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:85872034..85874888-chr11:85925507..85928430,2	K562	blood:
2	chr11:85923282..85925341-chr11:85927794..85930196,2	K562	blood:
3	chr11:85923282..85925473-chr11:85927794..85931182,3	K562	blood:
4	chr11:85926100..85928442-chr11:85955189..85957929,2	MCF-7	breast:
5	chr11:85925600..85928219-chr11:85928375..85931276,2	K562	blood:
6	chr11:85752985..85755269-chr11:85927440..85930207,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000074266	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10792840	0.81[ASN][1000 genomes]
rs10898445	0.84[CEU][hapmap];0.82[CHD][hapmap];0.86[TSI][hapmap]
rs10898450	0.88[CEU][hapmap];0.83[CHB][hapmap];0.81[ASN][1000 genomes]
rs10898454	0.92[CEU][hapmap]
rs10898455	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs11234577	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11234578	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11234583	1.00[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11234585	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11234586	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11234587	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11234591	0.85[EUR][1000 genomes]
rs11234595	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs1215001	0.85[CHB][hapmap];0.87[CHD][hapmap]
rs12225782	0.92[CEU][hapmap];0.92[CHD][hapmap]
rs12226796	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12282663	0.81[ASN][1000 genomes]
rs12574118	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12577739	1.00[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12800606	0.83[ASN][1000 genomes]
rs1376947	0.87[CHD][hapmap]
rs1391221	0.92[CEU][hapmap];0.85[CHB][hapmap]
rs19039	0.85[CHB][hapmap];0.87[CHD][hapmap]
rs2173281	0.84[CEU][hapmap];0.96[CHD][hapmap]
rs291228	0.85[CHB][hapmap];0.83[CHD][hapmap];0.86[TSI][hapmap]
rs291230	0.85[CHB][hapmap];0.87[CHD][hapmap]
rs291233	0.84[CHB][hapmap]
rs291234	0.85[CHB][hapmap];0.87[CHD][hapmap];0.86[TSI][hapmap]
rs291237	0.85[CHB][hapmap]
rs291242	0.85[CHB][hapmap]
rs34095340	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34972740	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57902302	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61178383	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050948	chr11:85756325-85968665	Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv541117	chr11:85756325-85968665	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv832223	chr11:85845315-86015957	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11234582	EED	cis	parietal	SCAN
rs11234582	EED	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85917200-85928800	Weak transcription	Hela-S3	cervix
2	chr11:85919600-85929200	Weak transcription	Right Atrium	heart
3	chr11:85921000-85929000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr11:85921600-85929800	Weak transcription	Fetal Intestine Large	intestine
5	chr11:85921800-85929200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:85923600-85929200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr11:85923600-85929800	Weak transcription	NHEK	skin
8	chr11:85924200-85929200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr11:85924400-85929000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr11:85925200-85929200	Weak transcription	Spleen	Spleen
11	chr11:85926000-85929000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr11:85926200-85929000	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr11:85926200-85929000	Weak transcription	Primary B cells from peripheral blood	blood
14	chr11:85926200-85929000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:85926200-85929400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr11:85926200-85929800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:85926400-85928800	Weak transcription	K562	blood
18	chr11:85926400-85929000	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr11:85926400-85929200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr11:85926400-85929200	Weak transcription	Placenta	Placenta
21	chr11:85926400-85929200	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr11:85927000-85928800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:85927200-85929200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr11:85927400-85928600	Weak transcription	GM12878-XiMat	blood

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