Variant report

Variant	rs56013270
Chromosome Location	chr13:52952634-52952635
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs57041737	1.00[AMR][1000 genomes]
rs57313030	1.00[AMR][1000 genomes]
rs57807149	1.00[AMR][1000 genomes]
rs57855805	1.00[AMR][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[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	1.00[AMR][1000 genomes]
rs73484035	1.00[AMR][1000 genomes]
rs73484037	1.00[AMR][1000 genomes]
rs73484039	1.00[AMR][1000 genomes]
rs73484041	1.00[AMR][1000 genomes]
rs73484050	1.00[AMR][1000 genomes]
rs73484052	1.00[AMR][1000 genomes]
rs73484059	1.00[AMR][1000 genomes]
rs73484065	1.00[AMR][1000 genomes]
rs73484073	1.00[AMR][1000 genomes]
rs73484080	1.00[AMR][1000 genomes]
rs73484083	1.00[AMR][1000 genomes]
rs73484087	1.00[AMR][1000 genomes]
rs73484089	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73484090	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73484102	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73486113	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73486115	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73486116	1.00[AMR][1000 genomes]
rs73486119	1.00[AMR][1000 genomes]
rs73486122	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73486132	1.00[AMR][1000 genomes]
rs73486157	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73486161	0.81[AFR][1000 genomes];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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52946000-52952800	Weak transcription	Gastric	stomach
2	chr13:52946000-52969600	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr13:52946200-52979200	Weak transcription	A549	lung
4	chr13:52947800-52968000	Weak transcription	NHDF-Ad	bronchial
5	chr13:52949000-52955800	Weak transcription	Brain Angular Gyrus	brain
6	chr13:52949600-52952800	Weak transcription	Liver	Liver
7	chr13:52949800-52979000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr13:52950200-52954200	Strong transcription	HSMM	muscle
9	chr13:52950600-52953600	Strong transcription	HSMMtube	muscle
10	chr13:52951000-52953400	Weak transcription	Thymus	Thymus
11	chr13:52951000-52953600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr13:52951200-52953400	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr13:52951200-52961400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr13:52951400-52952800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr13:52951400-52955800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr13:52951600-52953000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr13:52951800-52952800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr13:52951800-52952800	Strong transcription	Muscle Satellite Cultured Cells	--
19	chr13:52951800-52952800	ZNF genes & repeats	Esophagus	oesophagus
20	chr13:52951800-52952800	Strong transcription	Left Ventricle	heart
21	chr13:52951800-52952800	Strong transcription	Right Ventricle	heart
22	chr13:52951800-52952800	Strong transcription	Stomach Smooth Muscle	stomach
23	chr13:52951800-52952800	Strong transcription	Spleen	Spleen
24	chr13:52951800-52952800	Strong transcription	NHLF	lung
25	chr13:52951800-52953000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr13:52951800-52953000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr13:52951800-52953000	Strong transcription	Adipose Nuclei	Adipose
28	chr13:52951800-52953000	Strong transcription	Fetal Intestine Small	intestine
29	chr13:52951800-52953000	Strong transcription	Fetal Stomach	stomach
30	chr13:52951800-52953000	Genic enhancers	Lung	lung
31	chr13:52951800-52953000	Strong transcription	Skeletal Muscle Male	skeletal muscle
32	chr13:52951800-52953200	Strong transcription	Fetal Muscle Leg	muscle
33	chr13:52951800-52954000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr13:52951800-52954400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr13:52951800-52954400	Strong transcription	Fetal Muscle Trunk	muscle
36	chr13:52951800-52955400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr13:52951800-52955800	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr13:52952000-52952800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr13:52952000-52952800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr13:52952000-52952800	ZNF genes & repeats	Aorta	Aorta
41	chr13:52952000-52952800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr13:52952000-52952800	Strong transcription	NHEK	skin
43	chr13:52952000-52953000	Strong transcription	Ovary	ovary
44	chr13:52952000-52953000	Strong transcription	HMEC	breast
45	chr13:52952000-52953000	Strong transcription	HUVEC	blood vessel
46	chr13:52952000-52964400	Weak transcription	Brain Hippocampus Middle	brain
47	chr13:52952200-52952800	Strong transcription	Fetal Brain Female	brain
48	chr13:52952400-52952800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr13:52952400-52954600	Weak transcription	Pancreas	Pancrea
50	chr13:52952600-52953000	Strong transcription	Primary T cells from cord blood	blood

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