Variant report

Variant	rs73484090
Chromosome Location	chr13:52945921-52945922
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	chr13:52945253..52946757-chr13:52952983..52954577,2	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs56013270	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57041737	1.00[AMR][1000 genomes]
rs57313030	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57807149	1.00[AMR][1000 genomes]
rs57855805	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58345586	0.91[AFR][1000 genomes]
rs58452626	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60928383	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60935342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61193099	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7332023	1.00[AMR][1000 genomes]
rs73484013	1.00[AMR][1000 genomes]
rs73484018	1.00[AMR][1000 genomes]
rs73484032	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73484035	1.00[AMR][1000 genomes]
rs73484037	1.00[AMR][1000 genomes]
rs73484039	1.00[AMR][1000 genomes]
rs73484041	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73484045	0.91[AFR][1000 genomes]
rs73484050	1.00[AMR][1000 genomes]
rs73484052	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73484059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73484065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73484073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73484080	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73484083	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73484087	1.00[AMR][1000 genomes]
rs73484089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73484102	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73486113	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73486115	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73486116	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73486119	1.00[AMR][1000 genomes]
rs73486122	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73486132	1.00[AMR][1000 genomes]
rs73486157	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73486161	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73486169	1.00[AMR][1000 genomes]
rs73486186	1.00[AMR][1000 genomes]
rs73486199	1.00[AMR][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	nsv934070	chr13:52362588-53174923	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv1040931	chr13:52564792-53350914	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv541773	chr13:52564792-53350914	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv428288	chr13:52728370-53068132	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv900084	chr13:52835231-53119704	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52934000-52951800	Weak transcription	Fetal Intestine Small	intestine
2	chr13:52944800-52947800	Enhancers	HSMM	muscle
3	chr13:52944800-52949600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr13:52945400-52946000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr13:52945400-52946000	Enhancers	Right Atrium	heart
6	chr13:52945400-52946200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:52945400-52946200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr13:52945400-52946200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr13:52945400-52946400	Enhancers	NHDF-Ad	bronchial
10	chr13:52945400-52946600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr13:52945400-52946800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr13:52945400-52947800	Enhancers	NH-A	brain
13	chr13:52945400-52947800	Enhancers	Osteobl	bone
14	chr13:52945400-52948000	Enhancers	HMEC	breast
15	chr13:52945400-52948200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr13:52945400-52949400	Enhancers	HUVEC	blood vessel
17	chr13:52945600-52946200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr13:52945600-52947800	Enhancers	HSMMtube	muscle
19	chr13:52945800-52946000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr13:52945800-52946000	Enhancers	Adipose Nuclei	Adipose
21	chr13:52945800-52946000	ZNF genes & repeats	Aorta	Aorta
22	chr13:52945800-52946000	Enhancers	Esophagus	oesophagus
23	chr13:52945800-52946000	Enhancers	Fetal Muscle Trunk	muscle
24	chr13:52945800-52946000	Enhancers	Gastric	stomach
25	chr13:52945800-52946000	Enhancers	Left Ventricle	heart
26	chr13:52945800-52946000	Enhancers	Lung	lung
27	chr13:52945800-52946000	Enhancers	Ovary	ovary
28	chr13:52945800-52946000	Enhancers	Pancreas	Pancrea
29	chr13:52945800-52946000	Enhancers	Right Ventricle	heart
30	chr13:52945800-52946000	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr13:52945800-52946000	Enhancers	Spleen	Spleen
32	chr13:52945800-52946200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr13:52945800-52946200	Enhancers	A549	lung
34	chr13:52945800-52946400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr13:52945800-52946400	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr13:52945800-52946600	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr13:52945800-52946600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr13:52945800-52946600	Enhancers	HepG2	liver
39	chr13:52945800-52946800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr13:52945800-52946800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr13:52945800-52946800	Enhancers	Fetal Muscle Leg	muscle
42	chr13:52945800-52946800	Enhancers	NHLF	lung
43	chr13:52945800-52947600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr13:52945800-52948000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr13:52945800-52948000	Enhancers	NHEK	skin
46	chr13:52945800-52948600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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