Variant report

Variant	rs10459378
Chromosome Location	chr13:53498014-53498015
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11618402	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7987058	0.82[ASN][1000 genomes]
rs9527039	0.81[EUR][1000 genomes]
rs9563123	1.00[ASN][1000 genomes]
rs9568777	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53496200-53499400	Weak transcription	Brain Anterior Caudate	brain
2	chr13:53496200-53503800	Weak transcription	Brain Substantia Nigra	brain
3	chr13:53496800-53500600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:53496800-53502400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr13:53497400-53498400	Weak transcription	Fetal Muscle Leg	muscle
6	chr13:53497400-53498600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:53497400-53499600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr13:53497600-53498200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr13:53497600-53499000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr13:53497600-53499400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr13:53497800-53498600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr13:53498000-53498400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr13:53498000-53498800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr13:53498000-53499000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr13:53498000-53499000	Weak transcription	HSMMtube	muscle

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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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