Variant report

Variant	rs57461595
Chromosome Location	chr13:52948183-52948184
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs55645852	0.88[AFR][1000 genomes]
rs55906444	0.88[AFR][1000 genomes]
rs55924773	0.88[AFR][1000 genomes]
rs56116089	0.88[AFR][1000 genomes]
rs56252739	0.88[AFR][1000 genomes]
rs57214011	0.88[AFR][1000 genomes]
rs57339165	1.00[AFR][1000 genomes]
rs58762975	0.88[AFR][1000 genomes]
rs60864284	0.88[AFR][1000 genomes]
rs61285838	1.00[AFR][1000 genomes]
rs74085722	0.81[AFR][1000 genomes]
rs74085735	1.00[AFR][1000 genomes]
rs74085745	0.88[AFR][1000 genomes]
rs74085746	0.88[AFR][1000 genomes]
rs74085748	0.88[AFR][1000 genomes]
rs74085750	0.88[AFR][1000 genomes]
rs74085767	0.88[AFR][1000 genomes]
rs74085776	0.88[AFR][1000 genomes]
rs74085781	0.88[AFR][1000 genomes]
rs74085795	0.88[AFR][1000 genomes]
rs74085799	0.88[AFR][1000 genomes]
rs74087304	0.88[AFR][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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52934000-52951800	Weak transcription	Fetal Intestine Small	intestine
2	chr13:52944800-52949600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr13:52945400-52948200	Enhancers	Muscle Satellite Cultured Cells	--
4	chr13:52945400-52949400	Enhancers	HUVEC	blood vessel
5	chr13:52945800-52948600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr13:52946000-52949600	Weak transcription	Spleen	Spleen
7	chr13:52946000-52951800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr13:52946000-52951800	Weak transcription	Adipose Nuclei	Adipose
9	chr13:52946000-52951800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr13:52946000-52951800	Weak transcription	Left Ventricle	heart
11	chr13:52946000-52951800	Weak transcription	Lung	lung
12	chr13:52946000-52951800	Weak transcription	Pancreas	Pancrea
13	chr13:52946000-52951800	Weak transcription	Right Ventricle	heart
14	chr13:52946000-52952000	Weak transcription	Aorta	Aorta
15	chr13:52946000-52952000	Weak transcription	Ovary	ovary
16	chr13:52946000-52952800	Weak transcription	Gastric	stomach
17	chr13:52946000-52969600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr13:52946200-52951800	Weak transcription	Esophagus	oesophagus
19	chr13:52946200-52951800	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr13:52946200-52952000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr13:52946200-52952600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr13:52946200-52979200	Weak transcription	A549	lung
23	chr13:52946400-52949000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr13:52946600-52949200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr13:52946800-52951800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr13:52946800-52951800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr13:52946800-52951800	Weak transcription	Fetal Muscle Leg	muscle
28	chr13:52947400-52949200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr13:52947400-52951800	Weak transcription	NHLF	lung
30	chr13:52947600-52948600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr13:52947600-52951800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr13:52947800-52948600	Weak transcription	HSMM	muscle
33	chr13:52947800-52949000	Weak transcription	NH-A	brain
34	chr13:52947800-52949000	Weak transcription	Osteobl	bone
35	chr13:52947800-52950600	Weak transcription	HSMMtube	muscle
36	chr13:52947800-52968000	Weak transcription	NHDF-Ad	bronchial
37	chr13:52948000-52949000	Weak transcription	HMEC	breast
38	chr13:52948000-52951800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr13:52948000-52952000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr13:52948000-52952000	Weak transcription	NHEK	skin

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