Variant report

Variant	rs61957417
Chromosome Location	chr13:52476471-52476472
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1815391	1.00[EUR][1000 genomes]
rs1924614	0.83[EUR][1000 genomes]
rs1924615	0.83[EUR][1000 genomes]
rs1924618	0.83[EUR][1000 genomes]
rs4605048	0.83[EUR][1000 genomes]
rs549831	0.83[EUR][1000 genomes]
rs58050745	1.00[EUR][1000 genomes]
rs58919798	1.00[EUR][1000 genomes]
rs61023393	1.00[EUR][1000 genomes]
rs61957413	1.00[AMR][1000 genomes]
rs61957414	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61957416	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8001052	1.00[EUR][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	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	nsv933424	chr13:52293482-52507732	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer 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	27 gene(s)	inside rSNPs	diseases
3	nsv1044310	chr13:52321564-52643924	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1050117	chr13:52325116-52643924	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	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

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52433800-52479400	Weak transcription	HepG2	liver
2	chr13:52457400-52480200	Weak transcription	Liver	Liver
3	chr13:52463800-52477000	Weak transcription	Fetal Intestine Small	intestine
4	chr13:52464600-52494400	Weak transcription	Aorta	Aorta
5	chr13:52467600-52480400	Weak transcription	Fetal Lung	lung
6	chr13:52470800-52481000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr13:52474400-52478200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr13:52475200-52479000	Weak transcription	Fetal Intestine Large	intestine
9	chr13:52475600-52493800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr13:52475800-52477800	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr13:52476200-52477600	Enhancers	Primary hematopoietic stem cells	blood
12	chr13:52476200-52480400	Weak transcription	Pancreas	Pancrea
13	chr13:52476200-52493800	Weak transcription	K562	blood
14	chr13:52476400-52477000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr13:52476400-52496600	Weak transcription	Duodenum Mucosa	Duodenum

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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