Variant report

Variant	rs56217013
Chromosome Location	chr13:53502190-53502191
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs17052613	1.00[AMR][1000 genomes]
rs56740905	1.00[AMR][1000 genomes]
rs57598135	1.00[AMR][1000 genomes]
rs58545123	1.00[AMR][1000 genomes]
rs58732737	1.00[AMR][1000 genomes]
rs60472137	1.00[AMR][1000 genomes]
rs61141148	1.00[AMR][1000 genomes]
rs74086052	1.00[AMR][1000 genomes]
rs74086055	1.00[AMR][1000 genomes]
rs74086507	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74086510	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74086511	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74086514	1.00[AMR][1000 genomes]
rs74086515	1.00[AMR][1000 genomes]
rs74086517	1.00[AMR][1000 genomes]
rs74086519	1.00[AMR][1000 genomes]
rs74086523	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74086527	1.00[AMR][1000 genomes]
rs74088311	1.00[AMR][1000 genomes]
rs74088318	1.00[AMR][1000 genomes]
rs74088320	1.00[AMR][1000 genomes]
rs74088322	1.00[AMR][1000 genomes]
rs74088323	1.00[AMR][1000 genomes]
rs74088324	1.00[AMR][1000 genomes]
rs74088325	1.00[AMR][1000 genomes]
rs74088330	1.00[AMR][1000 genomes]
rs74088337	1.00[AMR][1000 genomes]
rs74088339	1.00[AMR][1000 genomes]
rs74088358	1.00[AMR][1000 genomes]
rs74088371	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:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53496200-53503800	Weak transcription	Brain Substantia Nigra	brain
2	chr13:53496800-53502400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr13:53498400-53508600	Enhancers	Fetal Muscle Leg	muscle
4	chr13:53499200-53504200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:53499600-53506600	Weak transcription	Fetal Thymus	thymus
6	chr13:53500000-53503400	Weak transcription	Brain Anterior Caudate	brain
7	chr13:53500200-53504800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr13:53500200-53507000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr13:53500600-53502600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr13:53500600-53503800	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr13:53500800-53503800	Weak transcription	HSMMtube	muscle
12	chr13:53501200-53504400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr13:53501600-53503600	Weak transcription	HSMM	muscle

Quick Search:

Input of quick search could be:

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

what's new

Quick links