Variant report

Variant	rs9527039
Chromosome Location	chr13:53504675-53504676
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10459378	0.81[EUR][1000 genomes]
rs9563123	0.91[EUR][1000 genomes]
rs9568777	0.83[AMR][1000 genomes];1.00[EUR][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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53498400-53508600	Enhancers	Fetal Muscle Leg	muscle
2	chr13:53499600-53506600	Weak transcription	Fetal Thymus	thymus
3	chr13:53500200-53504800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr13:53500200-53507000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr13:53502400-53505800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr13:53502600-53505200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr13:53503400-53505000	Enhancers	Brain Anterior Caudate	brain
8	chr13:53503400-53509200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:53503800-53505800	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr13:53504200-53505600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr13:53504200-53505800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr13:53504200-53506600	Enhancers	Brain Germinal Matrix	brain
13	chr13:53504400-53505200	Enhancers	Fetal Muscle Trunk	muscle
14	chr13:53504400-53505800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr13:53504400-53506400	Weak transcription	Brain Angular Gyrus	brain
16	chr13:53504400-53507600	Enhancers	Fetal Brain Female	brain
17	chr13:53504600-53505800	Weak transcription	Brain Substantia Nigra	brain
18	chr13:53504600-53506600	Weak transcription	HSMMtube	muscle
19	chr13:53504600-53508600	Enhancers	Fetal Brain Male	brain

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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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