Variant report

Variant	rs73502322
Chromosome Location	chr13:52776187-52776188
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs57041737	1.00[AFR][1000 genomes]
rs57807149	1.00[AFR][1000 genomes]
rs60691453	1.00[AMR][1000 genomes]
rs73184378	1.00[AFR][1000 genomes]
rs7319489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73484013	0.86[AFR][1000 genomes]
rs73484018	0.86[AFR][1000 genomes]
rs73484035	1.00[AFR][1000 genomes]
rs73484037	1.00[AFR][1000 genomes]
rs73484050	1.00[AFR][1000 genomes]
rs73484087	1.00[AFR][1000 genomes]
rs73486119	1.00[AFR][1000 genomes]
rs73486132	1.00[AFR][1000 genomes]
rs73486169	1.00[AFR][1000 genomes]
rs73500148	1.00[AMR][1000 genomes]
rs73500159	1.00[AMR][1000 genomes]
rs73500175	1.00[AMR][1000 genomes]
rs73500179	1.00[AMR][1000 genomes]
rs73500184	1.00[AMR][1000 genomes]
rs73500190	1.00[AMR][1000 genomes]
rs73500199	1.00[AMR][1000 genomes]
rs73500200	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7999934	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530718	chr13:52291802-52832752	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	nsv1037567	chr13:52643647-52802799	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	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
7	nsv819887	chr13:52772113-52926921	Enhancers Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv983588	chr13:52772461-52833538	Enhancers Active TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52769400-52778600	Weak transcription	K562	blood
2	chr13:52770400-52777600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr13:52771000-52777600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr13:52774200-52776400	Enhancers	Fetal Intestine Large	intestine
5	chr13:52774200-52776800	Enhancers	Fetal Heart	heart
6	chr13:52775200-52776200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr13:52775400-52776200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr13:52775600-52776200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr13:52775600-52776200	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr13:52775800-52776200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr13:52775800-52776200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr13:52775800-52776200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr13:52775800-52776200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr13:52775800-52776200	Enhancers	Brain Substantia Nigra	brain
15	chr13:52775800-52776200	Enhancers	Fetal Intestine Small	intestine
16	chr13:52775800-52776200	Active TSS	Gastric	stomach
17	chr13:52775800-52776200	Enhancers	Lung	lung
18	chr13:52775800-52776800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr13:52776000-52776200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr13:52776000-52776200	Enhancers	Left Ventricle	heart
21	chr13:52776000-52776200	Enhancers	Right Ventricle	heart
22	chr13:52776000-52776400	Flanking Active TSS	HepG2	liver

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