Variant report

Variant	rs1891947
Chromosome Location	chr13:53639129-53639130
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs12864008	0.81[AFR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12865218	0.88[ASN][1000 genomes]
rs12866736	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12868253	0.92[ASN][1000 genomes]
rs12876387	0.89[ASN][1000 genomes]
rs12877178	0.88[ASN][1000 genomes]
rs17053814	0.90[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs17053823	0.90[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs17053844	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17053849	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17053872	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2275840	0.96[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs2799344	0.82[ASN][1000 genomes]
rs2799345	0.88[ASN][1000 genomes]
rs34110102	0.96[ASN][1000 genomes]
rs34162017	0.94[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs34163916	0.82[ASN][1000 genomes]
rs34211399	0.88[ASN][1000 genomes]
rs34298498	0.92[ASN][1000 genomes]
rs34330988	0.91[ASN][1000 genomes]
rs34374288	0.96[ASN][1000 genomes]
rs34642277	0.88[ASN][1000 genomes]
rs34708622	0.84[ASN][1000 genomes]
rs35003538	0.82[ASN][1000 genomes]
rs35007240	0.82[ASN][1000 genomes]
rs35121580	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35137422	0.89[ASN][1000 genomes]
rs35226075	0.91[ASN][1000 genomes]
rs35397855	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35472513	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35559066	0.87[ASN][1000 genomes]
rs35575822	0.88[ASN][1000 genomes]
rs35625606	0.89[ASN][1000 genomes]
rs35666947	0.91[ASN][1000 genomes]
rs35727089	0.91[ASN][1000 genomes]
rs35756659	0.91[ASN][1000 genomes]
rs35765587	0.88[ASN][1000 genomes]
rs36081995	0.92[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs57454139	0.82[ASN][1000 genomes]
rs59345770	0.94[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs59513810	0.91[ASN][1000 genomes]
rs61950074	0.81[ASN][1000 genomes]
rs61950491	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61950492	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61950504	0.88[ASN][1000 genomes]
rs61950522	0.82[ASN][1000 genomes]
rs74086489	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530719	chr13:53173014-53675953	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv3440613	chr13:53307609-53671072	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv832613	chr13:53524319-53687188	Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53633200-53642200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr13:53635600-53641600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr13:53636200-53641600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr13:53636200-53642400	Weak transcription	Brain Anterior Caudate	brain
5	chr13:53636400-53642200	Weak transcription	Brain Hippocampus Middle	brain
6	chr13:53636600-53642000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr13:53636600-53642200	Weak transcription	Brain Angular Gyrus	brain
8	chr13:53636800-53641600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr13:53637600-53641600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr13:53637800-53639600	Enhancers	Pancreas	Pancrea
11	chr13:53637800-53641000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr13:53638000-53640000	Enhancers	Fetal Muscle Leg	muscle
13	chr13:53638400-53639600	Enhancers	Brain Germinal Matrix	brain
14	chr13:53638400-53639600	Enhancers	Ovary	ovary
15	chr13:53638600-53639200	Enhancers	Fetal Heart	heart
16	chr13:53638600-53639200	Enhancers	Fetal Stomach	stomach
17	chr13:53638800-53639200	Enhancers	Duodenum Mucosa	Duodenum
18	chr13:53639000-53642600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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