Variant report

Variant	rs12584956
Chromosome Location	chr13:49313943-49313944
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12583070	0.93[EUR][1000 genomes]
rs12583426	1.00[JPT][hapmap]
rs12584054	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12584796	1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12584964	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12585005	1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60757301	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7324094	1.00[ASN][1000 genomes]
rs74074731	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs74074745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74074747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	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
2	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
3	esv2758327	chr13:49283983-49472517	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv2759936	chr13:49283983-49472517	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1036621	chr13:49310529-49346405	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr13:49311800-49314600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr13:49311800-49317000	Enhancers	Dnd41	blood
3	chr13:49312200-49314200	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr13:49312200-49314200	Enhancers	Left Ventricle	heart
5	chr13:49312400-49314200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr13:49312400-49314400	Enhancers	Right Atrium	heart
7	chr13:49312600-49314200	Enhancers	Placenta	Placenta
8	chr13:49312600-49315200	Weak transcription	Pancreas	Pancrea
9	chr13:49312800-49314600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr13:49313000-49315200	Weak transcription	Right Ventricle	heart
11	chr13:49313200-49314000	Weak transcription	Liver	Liver
12	chr13:49313400-49314200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr13:49313600-49315200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr13:49313600-49315400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr13:49313800-49314000	Flanking Active TSS	Fetal Lung	lung

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

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