Variant report

Variant	rs72957420
Chromosome Location	chr11:86348535-86348536
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:86346719..86349845-chr11:86488350..86491309,3	MCF-7	breast:
2	chr11:86345410..86347094-chr11:86347295..86350272,2	MCF-7	breast:
3	chr11:86346931..86348869-chr11:86351616..86354128,2	K562	blood:
4	chr11:86342318..86349364-chr11:86509780..86514935,13	MCF-7	breast:
5	chr11:86346528..86348844-chr11:86457417..86460033,2	MCF-7	breast:
6	chr11:86347212..86349048-chr11:86508932..86511898,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150687	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10501626	0.98[ASN][1000 genomes]
rs12285344	0.85[ASN][1000 genomes]
rs12573953	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12575285	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12575580	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17211458	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17211563	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17211584	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17818784	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17818845	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17819523	0.98[ASN][1000 genomes]
rs17819683	0.98[ASN][1000 genomes]
rs1945142	0.98[ASN][1000 genomes]
rs2226566	0.98[ASN][1000 genomes]
rs471780	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs539214	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56095595	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56140354	0.98[ASN][1000 genomes]
rs56935647	0.97[ASN][1000 genomes]
rs581796	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60229086	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60379752	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs623785	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs659301	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66878934	0.91[EUR][1000 genomes]
rs66909667	0.98[ASN][1000 genomes]
rs67112634	0.98[ASN][1000 genomes]
rs67655324	0.91[EUR][1000 genomes]
rs686768	0.90[ASN][1000 genomes]
rs687138	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72955481	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72957414	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72957437	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72957439	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72957441	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72957457	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72957470	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72957473	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72957476	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72959410	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72959413	0.90[ASN][1000 genomes]
rs72959421	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72959427	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72959431	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72961766	0.91[EUR][1000 genomes]
rs7480835	0.98[ASN][1000 genomes]
rs9667489	0.86[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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86333200-86349800	Weak transcription	Esophagus	oesophagus
2	chr11:86339200-86349200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr11:86340000-86357200	Weak transcription	Fetal Brain Female	brain
4	chr11:86341000-86349000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr11:86341000-86355400	Weak transcription	Adipose Nuclei	Adipose
6	chr11:86341600-86358800	Weak transcription	Brain Anterior Caudate	brain
7	chr11:86342000-86349200	Weak transcription	Fetal Heart	heart
8	chr11:86342200-86348800	Weak transcription	Brain Angular Gyrus	brain
9	chr11:86342200-86351400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:86342200-86353200	Weak transcription	Aorta	Aorta
11	chr11:86342200-86356400	Weak transcription	Fetal Stomach	stomach
12	chr11:86343800-86350000	Weak transcription	Colon Smooth Muscle	Colon
13	chr11:86344000-86373800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr11:86344200-86352800	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr11:86344400-86349000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:86344600-86354600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr11:86344800-86348800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr11:86344800-86349000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr11:86344800-86349000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:86344800-86349000	Weak transcription	NHEK	skin
21	chr11:86344800-86349000	Weak transcription	Osteobl	bone
22	chr11:86344800-86355400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr11:86344800-86355800	Weak transcription	Pancreas	Pancrea
24	chr11:86345000-86349400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:86345400-86353000	Weak transcription	HSMM	muscle
26	chr11:86346400-86349200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:86346400-86351200	Weak transcription	Gastric	stomach
28	chr11:86346600-86351800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr11:86346600-86359600	Weak transcription	Primary hematopoietic stem cells	blood
30	chr11:86346800-86351200	Enhancers	Muscle Satellite Cultured Cells	--
31	chr11:86347000-86349200	Genic enhancers	Ovary	ovary
32	chr11:86347000-86350000	Weak transcription	NH-A	brain
33	chr11:86347200-86349200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:86347200-86351600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr11:86347200-86352600	Weak transcription	HUVEC	blood vessel
36	chr11:86347800-86348800	Weak transcription	HMEC	breast
37	chr11:86347800-86349000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:86347800-86349000	Weak transcription	NHLF	lung
39	chr11:86347800-86349200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr11:86347800-86350400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr11:86348200-86350000	Weak transcription	Fetal Kidney	kidney
42	chr11:86348400-86348800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:86348400-86348800	Enhancers	Spleen	Spleen
44	chr11:86348400-86348800	Weak transcription	A549	lung
45	chr11:86348400-86349200	Enhancers	Right Ventricle	heart
46	chr11:86348400-86349400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr11:86348400-86349400	Enhancers	Left Ventricle	heart
48	chr11:86348400-86349600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr11:86348400-86350400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr11:86348400-86350800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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