Variant report

Variant	rs642780
Chromosome Location	chr11:86374245-86374246
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:86360141..86362731-chr11:86373368..86375959,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12281596	1.00[ASN][1000 genomes]
rs480290	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs484481	1.00[ASN][1000 genomes]
rs503195	1.00[ASN][1000 genomes]
rs530278	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs561363	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs566633	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs591474	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs595031	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs619829	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs643157	1.00[ASN][1000 genomes]
rs661115	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs668984	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs672280	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs673118	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs674481	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs688079	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86362000-86378000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:86366200-86380000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr11:86366600-86379800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:86369400-86375600	Weak transcription	Aorta	Aorta
5	chr11:86369800-86379600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr11:86369800-86379600	Weak transcription	Lung	lung
7	chr11:86369800-86379800	Weak transcription	Brain Anterior Caudate	brain
8	chr11:86369800-86381200	Weak transcription	Pancreas	Pancrea
9	chr11:86369800-86382000	Weak transcription	Fetal Muscle Leg	muscle
10	chr11:86370000-86375400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr11:86370000-86382000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr11:86370400-86379600	Weak transcription	Fetal Brain Female	brain
13	chr11:86370600-86379400	Weak transcription	Fetal Brain Male	brain
14	chr11:86370800-86374800	Weak transcription	Brain Germinal Matrix	brain
15	chr11:86371200-86380800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:86371400-86374800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr11:86371400-86376200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:86371400-86376200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:86371400-86378600	Weak transcription	Osteobl	bone
20	chr11:86371400-86379600	Weak transcription	Right Atrium	heart
21	chr11:86371400-86381000	Weak transcription	HUVEC	blood vessel
22	chr11:86371400-86381000	Weak transcription	NHLF	lung
23	chr11:86371400-86381200	Weak transcription	Stomach Mucosa	stomach
24	chr11:86371400-86381400	Weak transcription	HSMM	muscle
25	chr11:86371600-86375400	Weak transcription	A549	lung
26	chr11:86371600-86376000	Weak transcription	Fetal Heart	heart
27	chr11:86371600-86376200	Weak transcription	HMEC	breast
28	chr11:86371600-86376400	Weak transcription	NHEK	skin
29	chr11:86371600-86380800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr11:86371800-86378600	Weak transcription	Fetal Lung	lung
31	chr11:86372400-86376400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:86372400-86381200	Weak transcription	NHDF-Ad	bronchial
33	chr11:86372600-86375800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr11:86372600-86376200	Enhancers	Ovary	ovary
35	chr11:86372800-86374400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr11:86372800-86375600	Weak transcription	Left Ventricle	heart
37	chr11:86372800-86375800	Weak transcription	Right Ventricle	heart
38	chr11:86372800-86377000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr11:86372800-86379600	Weak transcription	Brain Angular Gyrus	brain
40	chr11:86373000-86375800	Weak transcription	Psoas Muscle	Psoas
41	chr11:86373000-86381200	Weak transcription	Primary T cells from cord blood	blood
42	chr11:86373000-86381200	Weak transcription	Primary hematopoietic stem cells	blood
43	chr11:86373600-86382000	Weak transcription	Fetal Muscle Trunk	muscle
44	chr11:86373800-86374600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr11:86373800-86374800	Enhancers	Adipose Nuclei	Adipose
46	chr11:86373800-86375000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:86373800-86375000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr11:86373800-86375000	Enhancers	Colon Smooth Muscle	Colon
49	chr11:86373800-86375800	Enhancers	Rectal Smooth Muscle	rectum
50	chr11:86373800-86376800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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