Variant report

Variant	rs539214
Chromosome Location	chr11:86353375-86353376
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:86222588..86224589-chr11:86352023..86353765,2	K562	blood:
2	chr11:86352364..86354456-chr11:86522479..86524729,2	MCF-7	breast:
3	chr11:86346931..86348869-chr11:86351616..86354128,2	K562	blood:
4	chr11:86352044..86355103-chr11:86509980..86513018,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150687	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10501626	0.93[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10792871	0.81[ASN][1000 genomes]
rs10898526	0.82[CHB][hapmap]
rs11234743	0.87[CHB][hapmap]
rs11234744	0.84[CHB][hapmap]
rs11234745	0.87[CHB][hapmap]
rs12285344	0.85[ASN][1000 genomes]
rs12573953	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12574672	0.82[EUR][1000 genomes]
rs12575285	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12575580	1.00[EUR][1000 genomes]
rs17211458	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17211563	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17211584	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17818784	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17818845	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17819523	0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17819683	0.93[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1945142	0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2226566	0.98[ASN][1000 genomes]
rs2433413	0.87[CHB][hapmap]
rs2433415	0.87[CHB][hapmap]
rs471780	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56095595	1.00[EUR][1000 genomes]
rs56140354	0.98[ASN][1000 genomes]
rs56935647	0.94[ASN][1000 genomes]
rs581796	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs600242	0.87[CHB][hapmap]
rs60229086	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs602498	0.87[CHB][hapmap]
rs60379752	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs623785	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs659301	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66878934	0.93[EUR][1000 genomes]
rs66909667	0.98[ASN][1000 genomes]
rs67112634	0.98[ASN][1000 genomes]
rs672266	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs67655324	0.93[EUR][1000 genomes]
rs686768	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs687138	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72955481	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72957414	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72957420	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72957437	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72957439	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72957441	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72957457	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72957470	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72957473	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72957476	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72959410	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72959413	0.90[ASN][1000 genomes]
rs72959421	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72959427	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72959431	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72961766	0.93[EUR][1000 genomes]
rs746491	0.86[CHB][hapmap]
rs7480835	0.98[ASN][1000 genomes]
rs9667489	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv555665	chr11:86230898-86417553	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1055071	chr11:86301240-86465465	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv555704	chr11:86344677-86386784	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86340000-86357200	Weak transcription	Fetal Brain Female	brain
2	chr11:86341000-86355400	Weak transcription	Adipose Nuclei	Adipose
3	chr11:86341600-86358800	Weak transcription	Brain Anterior Caudate	brain
4	chr11:86342200-86356400	Weak transcription	Fetal Stomach	stomach
5	chr11:86344000-86373800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr11:86344600-86354600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr11:86344800-86355400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr11:86344800-86355800	Weak transcription	Pancreas	Pancrea
9	chr11:86346600-86359600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr11:86348800-86361600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:86349400-86353600	Weak transcription	Left Ventricle	heart
12	chr11:86349400-86356000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:86350600-86355000	Weak transcription	HMEC	breast
14	chr11:86350600-86355000	Weak transcription	NHLF	lung
15	chr11:86350600-86355200	Weak transcription	NH-A	brain
16	chr11:86350800-86354800	Weak transcription	NHDF-Ad	bronchial
17	chr11:86350800-86355200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:86350800-86355400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr11:86351000-86355000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:86351200-86353400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr11:86351800-86354800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:86351800-86355800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr11:86352000-86353400	Weak transcription	Ovary	ovary
24	chr11:86352000-86353600	Weak transcription	Psoas Muscle	Psoas
25	chr11:86352400-86355400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr11:86352600-86360600	Weak transcription	A549	lung
27	chr11:86352800-86353400	Enhancers	Osteobl	bone
28	chr11:86353000-86353400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:86353000-86353400	Enhancers	HSMM	muscle
30	chr11:86353200-86353600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr11:86353200-86354000	Enhancers	Aorta	Aorta
32	chr11:86353200-86355000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr11:86353200-86356200	Weak transcription	Duodenum Smooth Muscle	Duodenum

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