Variant report

Variant	rs56140354
Chromosome Location	chr11:86352170-86352171
allele	A/C
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	chr11:86346931..86348869-chr11:86351616..86354128,2	K562	blood:
3	chr11:86352044..86355103-chr11:86509980..86513018,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150687	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10501626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12285344	0.85[ASN][1000 genomes]
rs12573953	0.93[ASN][1000 genomes]
rs12575285	0.98[ASN][1000 genomes]
rs17211458	0.97[ASN][1000 genomes]
rs17211563	0.98[ASN][1000 genomes]
rs17211584	0.97[ASN][1000 genomes]
rs17818784	0.98[ASN][1000 genomes]
rs17818845	0.89[ASN][1000 genomes]
rs17819523	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17819683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1945142	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2226566	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs471780	0.98[ASN][1000 genomes]
rs539214	0.98[ASN][1000 genomes]
rs56935647	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs581796	0.98[ASN][1000 genomes]
rs60229086	0.91[ASN][1000 genomes]
rs60379752	0.91[ASN][1000 genomes]
rs623785	0.94[ASN][1000 genomes]
rs659301	0.99[ASN][1000 genomes]
rs66909667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67112634	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs686768	0.90[ASN][1000 genomes]
rs687138	0.98[ASN][1000 genomes]
rs72955481	0.91[ASN][1000 genomes]
rs72957414	0.98[ASN][1000 genomes]
rs72957420	0.98[ASN][1000 genomes]
rs72957437	0.97[ASN][1000 genomes]
rs72957439	0.97[ASN][1000 genomes]
rs72957441	0.97[ASN][1000 genomes]
rs72957457	0.93[ASN][1000 genomes]
rs72957470	0.89[ASN][1000 genomes]
rs72957473	0.89[ASN][1000 genomes]
rs72957476	0.89[ASN][1000 genomes]
rs72959410	0.91[ASN][1000 genomes]
rs72959413	0.88[ASN][1000 genomes]
rs72959421	0.88[ASN][1000 genomes]
rs72959427	0.89[ASN][1000 genomes]
rs72959431	0.87[ASN][1000 genomes]
rs7480835	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9667489	0.84[EUR][1000 genomes];0.87[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:34 , 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	chr11:86342200-86353200	Weak transcription	Aorta	Aorta
5	chr11:86342200-86356400	Weak transcription	Fetal Stomach	stomach
6	chr11:86344000-86373800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr11:86344200-86352800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr11:86344600-86354600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:86344800-86355400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr11:86344800-86355800	Weak transcription	Pancreas	Pancrea
11	chr11:86345400-86353000	Weak transcription	HSMM	muscle
12	chr11:86346600-86359600	Weak transcription	Primary hematopoietic stem cells	blood
13	chr11:86347200-86352600	Weak transcription	HUVEC	blood vessel
14	chr11:86348800-86361600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:86349400-86353600	Weak transcription	Left Ventricle	heart
16	chr11:86349400-86356000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:86349600-86353000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:86350400-86353200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:86350400-86353200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:86350600-86352800	Weak transcription	Osteobl	bone
21	chr11:86350600-86355000	Weak transcription	HMEC	breast
22	chr11:86350600-86355000	Weak transcription	NHLF	lung
23	chr11:86350600-86355200	Weak transcription	NH-A	brain
24	chr11:86350800-86354800	Weak transcription	NHDF-Ad	bronchial
25	chr11:86350800-86355200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:86350800-86355400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:86351000-86355000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr11:86351200-86353400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr11:86351600-86352400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:86351600-86352400	Weak transcription	A549	lung
31	chr11:86351800-86354800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr11:86351800-86355800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr11:86352000-86353400	Weak transcription	Ovary	ovary
34	chr11:86352000-86353600	Weak transcription	Psoas Muscle	Psoas

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