Variant report

Variant	rs72959413
Chromosome Location	chr11:86380866-86380867
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:86378621..86386201-chr11:86413884..86420246,14	MCF-7	breast:
2	chr11:86379027..86389838-chr11:86504553..86514376,29	MCF-7	breast:
3	chr11:86369970..86372243-chr11:86379916..86381989,2	K562	blood:
4	chr11:86375294..86378539-chr11:86378821..86381383,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254731	Chromatin interaction
ENSG00000150687	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10501626	0.88[ASN][1000 genomes]
rs10792871	0.80[ASN][1000 genomes]
rs12573953	0.88[ASN][1000 genomes]
rs12575285	0.90[ASN][1000 genomes]
rs17211458	0.89[ASN][1000 genomes]
rs17211563	0.90[ASN][1000 genomes]
rs17211584	0.91[ASN][1000 genomes]
rs17818784	0.90[ASN][1000 genomes]
rs17818845	0.92[ASN][1000 genomes]
rs17819523	0.88[ASN][1000 genomes]
rs17819683	0.88[ASN][1000 genomes]
rs1945142	0.88[ASN][1000 genomes]
rs2226566	0.88[ASN][1000 genomes]
rs471780	0.90[ASN][1000 genomes]
rs539214	0.90[ASN][1000 genomes]
rs56140354	0.88[ASN][1000 genomes]
rs56935647	0.87[ASN][1000 genomes]
rs581796	0.90[ASN][1000 genomes]
rs60229086	0.97[ASN][1000 genomes]
rs60379752	0.86[ASN][1000 genomes]
rs623785	0.87[ASN][1000 genomes]
rs659301	0.89[ASN][1000 genomes]
rs66909667	0.88[ASN][1000 genomes]
rs67112634	0.88[ASN][1000 genomes]
rs686768	0.83[ASN][1000 genomes]
rs687138	0.90[ASN][1000 genomes]
rs72955481	0.84[ASN][1000 genomes]
rs72957414	0.90[ASN][1000 genomes]
rs72957420	0.90[ASN][1000 genomes]
rs72957437	0.91[ASN][1000 genomes]
rs72957439	0.91[ASN][1000 genomes]
rs72957441	0.91[ASN][1000 genomes]
rs72957457	0.88[ASN][1000 genomes]
rs72957470	0.92[ASN][1000 genomes]
rs72957473	0.92[ASN][1000 genomes]
rs72957476	0.92[ASN][1000 genomes]
rs72959410	0.97[ASN][1000 genomes]
rs72959421	0.96[ASN][1000 genomes]
rs72959427	0.97[ASN][1000 genomes]
rs72959431	0.92[ASN][1000 genomes]
rs72961771	0.90[EUR][1000 genomes]
rs7480835	0.88[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:75 , 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	chr11:86371400-86381000	Weak transcription	HUVEC	blood vessel
5	chr11:86371400-86381000	Weak transcription	NHLF	lung
6	chr11:86371400-86381200	Weak transcription	Stomach Mucosa	stomach
7	chr11:86371400-86381400	Weak transcription	HSMM	muscle
8	chr11:86372400-86381200	Weak transcription	NHDF-Ad	bronchial
9	chr11:86373000-86381200	Weak transcription	Primary T cells from cord blood	blood
10	chr11:86373000-86381200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr11:86373600-86382000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr11:86374600-86381200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr11:86374600-86381200	Weak transcription	Brain Hippocampus Middle	brain
14	chr11:86374800-86381000	Weak transcription	Adipose Nuclei	Adipose
15	chr11:86374800-86381200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr11:86375800-86382000	Weak transcription	Fetal Intestine Small	intestine
17	chr11:86376000-86381400	Weak transcription	Small Intestine	intestine
18	chr11:86376000-86382000	Weak transcription	Fetal Intestine Large	intestine
19	chr11:86376200-86382400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr11:86376600-86381000	Weak transcription	Fetal Stomach	stomach
21	chr11:86377600-86381000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:86377600-86381000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr11:86377800-86381000	Weak transcription	Fetal Kidney	kidney
24	chr11:86377800-86381200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:86377800-86381200	Weak transcription	Colonic Mucosa	Colon
26	chr11:86377800-86381600	Weak transcription	NHEK	skin
27	chr11:86377800-86382000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:86378200-86381000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr11:86378200-86381000	Weak transcription	HMEC	breast
30	chr11:86378200-86382600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:86378600-86382400	Weak transcription	Gastric	stomach
32	chr11:86378800-86382000	Weak transcription	Left Ventricle	heart
33	chr11:86379200-86381000	Weak transcription	Osteobl	bone
34	chr11:86379400-86381200	Enhancers	Fetal Brain Male	brain
35	chr11:86379600-86381000	Enhancers	Right Atrium	heart
36	chr11:86379600-86381000	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr11:86379600-86381000	Genic enhancers	A549	lung
38	chr11:86379600-86381200	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr11:86379600-86382400	Enhancers	Fetal Heart	heart
40	chr11:86379800-86382200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:86379800-86382400	Weak transcription	Lung	lung
42	chr11:86380000-86381000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr11:86380000-86381000	Enhancers	Stomach Smooth Muscle	stomach
44	chr11:86380000-86381400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:86380000-86381400	Enhancers	Ovary	ovary
46	chr11:86380000-86382200	Enhancers	Colon Smooth Muscle	Colon
47	chr11:86380200-86381000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr11:86380200-86381000	Weak transcription	Brain Germinal Matrix	brain
49	chr11:86380200-86381000	Weak transcription	Hela-S3	cervix
50	chr11:86380200-86381200	Weak transcription	Duodenum Mucosa	Duodenum

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