Variant report

Variant	rs72959410
Chromosome Location	chr11:86380492-86380493
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:86379738..86380661-chr11:86512962..86514131,4	MCF-7	breast:
2	chr11:86378621..86386201-chr11:86413884..86420246,14	MCF-7	breast:
3	chr11:86379027..86389838-chr11:86504553..86514376,29	MCF-7	breast:
4	chr11:86369970..86372243-chr11:86379916..86381989,2	K562	blood:
5	chr11:86379174..86380695-chr11:86510669..86512169,2	MCF-7	breast:
6	chr11:86375294..86378539-chr11:86378821..86381383,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150687	Chromatin interaction
ENSG00000254731	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10501626	0.91[ASN][1000 genomes]
rs10792871	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12285344	0.81[ASN][1000 genomes]
rs12573953	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12574672	0.85[EUR][1000 genomes]
rs12575285	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12575580	0.96[EUR][1000 genomes]
rs17211458	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17211563	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17211584	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17818784	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17818845	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17819523	0.91[ASN][1000 genomes]
rs17819683	0.91[ASN][1000 genomes]
rs1945142	0.91[ASN][1000 genomes]
rs2226566	0.91[ASN][1000 genomes]
rs471780	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs539214	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56095595	0.96[EUR][1000 genomes]
rs56140354	0.91[ASN][1000 genomes]
rs56935647	0.90[ASN][1000 genomes]
rs581796	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60229086	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60379752	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs623785	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs659301	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66878934	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs66909667	0.91[ASN][1000 genomes]
rs67112634	0.91[ASN][1000 genomes]
rs67655324	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs686768	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs687138	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72955481	0.86[ASN][1000 genomes]
rs72957414	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72957420	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72957437	0.86[AFR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72957439	0.86[AFR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72957441	0.82[AFR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72957457	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72957470	0.95[AFR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72957473	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72957476	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72959413	0.97[ASN][1000 genomes]
rs72959421	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72959427	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72959431	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72961766	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7480835	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv428263	chr11:86357990-86508480	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86369800-86381200	Weak transcription	Pancreas	Pancrea
2	chr11:86369800-86382000	Weak transcription	Fetal Muscle Leg	muscle
3	chr11:86370000-86382000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr11:86371200-86380800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr11:86371400-86381000	Weak transcription	HUVEC	blood vessel
6	chr11:86371400-86381000	Weak transcription	NHLF	lung
7	chr11:86371400-86381200	Weak transcription	Stomach Mucosa	stomach
8	chr11:86371400-86381400	Weak transcription	HSMM	muscle
9	chr11:86371600-86380800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr11:86372400-86381200	Weak transcription	NHDF-Ad	bronchial
11	chr11:86373000-86381200	Weak transcription	Primary T cells from cord blood	blood
12	chr11:86373000-86381200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr11:86373600-86382000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr11:86374600-86381200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr11:86374600-86381200	Weak transcription	Brain Hippocampus Middle	brain
16	chr11:86374800-86381000	Weak transcription	Adipose Nuclei	Adipose
17	chr11:86374800-86381200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr11:86375800-86382000	Weak transcription	Fetal Intestine Small	intestine
19	chr11:86376000-86381400	Weak transcription	Small Intestine	intestine
20	chr11:86376000-86382000	Weak transcription	Fetal Intestine Large	intestine
21	chr11:86376200-86382400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr11:86376600-86381000	Weak transcription	Fetal Stomach	stomach
23	chr11:86377600-86381000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:86377600-86381000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr11:86377800-86381000	Weak transcription	Fetal Kidney	kidney
26	chr11:86377800-86381200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:86377800-86381200	Weak transcription	Colonic Mucosa	Colon
28	chr11:86377800-86381600	Weak transcription	NHEK	skin
29	chr11:86377800-86382000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:86378200-86381000	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr11:86378200-86381000	Weak transcription	HMEC	breast
32	chr11:86378200-86382600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:86378600-86382400	Weak transcription	Gastric	stomach
34	chr11:86378800-86382000	Weak transcription	Left Ventricle	heart
35	chr11:86379000-86380600	Weak transcription	Fetal Lung	lung
36	chr11:86379200-86381000	Weak transcription	Osteobl	bone
37	chr11:86379400-86381200	Enhancers	Fetal Brain Male	brain
38	chr11:86379600-86380600	Enhancers	Brain Angular Gyrus	brain
39	chr11:86379600-86380600	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr11:86379600-86380600	Enhancers	Fetal Brain Female	brain
41	chr11:86379600-86381000	Enhancers	Right Atrium	heart
42	chr11:86379600-86381000	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr11:86379600-86381000	Genic enhancers	A549	lung
44	chr11:86379600-86381200	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr11:86379600-86382400	Enhancers	Fetal Heart	heart
46	chr11:86379800-86380600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr11:86379800-86380800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr11:86379800-86382200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr11:86379800-86382400	Weak transcription	Lung	lung
50	chr11:86380000-86380600	Active TSS	Brain Anterior Caudate	brain

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