Variant report

Variant	rs586948
Chromosome Location	chr13:53356785-53356786
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs235781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs235788	1.00[AMR][1000 genomes]
rs635683	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs650453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53353800-53356800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr13:53353800-53361000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr13:53356400-53356800	Enhancers	Brain Anterior Caudate	brain
4	chr13:53356400-53357400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr13:53356400-53357400	Enhancers	Brain Cingulate Gyrus	brain
6	chr13:53356400-53357400	Enhancers	Brain Hippocampus Middle	brain
7	chr13:53356400-53357400	Enhancers	Brain Substantia Nigra	brain
8	chr13:53356400-53357600	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr13:53356400-53357800	Enhancers	Fetal Muscle Leg	muscle
10	chr13:53356400-53361000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr13:53356600-53357400	Active TSS	HepG2	liver

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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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