Variant report

Variant	rs73493084
Chromosome Location	chr13:49205058-49205059
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs59931363	1.00[AFR][1000 genomes]
rs61563834	0.83[AFR][1000 genomes]
rs7319644	1.00[AMR][1000 genomes]
rs73486881	0.83[AFR][1000 genomes]
rs73486884	0.83[AFR][1000 genomes]
rs73489018	0.83[AFR][1000 genomes]
rs73491077	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73491078	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73491092	1.00[AMR][1000 genomes]
rs73491097	1.00[AMR][1000 genomes]
rs73491098	1.00[AMR][1000 genomes]
rs73493003	1.00[AMR][1000 genomes]
rs73493004	0.83[AFR][1000 genomes]
rs73493053	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73493074	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73493090	0.83[AFR][1000 genomes]
rs73495023	1.00[AFR][1000 genomes]
rs73495103	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73495147	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041275	chr13:49045566-49242357	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv541769	chr13:49045566-49242357	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv832604	chr13:49061081-49281807	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv832605	chr13:49171305-49344970	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	esv3495983	chr13:49181790-49222165	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3495984	chr13:49181790-49222165	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49196800-49205600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr13:49201000-49207400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:49201200-49205200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr13:49201600-49205200	Weak transcription	Adipose Nuclei	Adipose
5	chr13:49201600-49210200	Weak transcription	Fetal Kidney	kidney
6	chr13:49202200-49208600	Weak transcription	Dnd41	blood
7	chr13:49202200-49210400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr13:49202800-49208800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr13:49203200-49205400	Enhancers	Pancreas	Pancrea
10	chr13:49203600-49205800	Enhancers	Ovary	ovary
11	chr13:49204000-49205800	Enhancers	HepG2	liver
12	chr13:49204000-49206600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr13:49204600-49205400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr13:49204800-49205200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr13:49204800-49205200	Enhancers	Placenta	Placenta
16	chr13:49205000-49205400	Enhancers	Right Atrium	heart
17	chr13:49205000-49205800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr13:49205000-49210400	Weak transcription	Stomach Mucosa	stomach

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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