Variant report

Variant	rs13378437
Chromosome Location	chr13:52469615-52469616
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs479752	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs9591434	1.00[YRI][hapmap]
rs9591435	1.00[YRI][hapmap]
rs9596591	1.00[YRI][hapmap]
rs9596592	1.00[YRI][hapmap]
rs9596593	1.00[YRI][hapmap]
rs9596602	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs9596603	0.83[AFR][1000 genomes]
rs9630340	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530718	chr13:52291802-52832752	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv933424	chr13:52293482-52507732	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv1044310	chr13:52321564-52643924	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1050117	chr13:52325116-52643924	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv934070	chr13:52362588-53174923	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 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	chr13:52433800-52479400	Weak transcription	HepG2	liver
2	chr13:52457400-52480200	Weak transcription	Liver	Liver
3	chr13:52463800-52477000	Weak transcription	Fetal Intestine Small	intestine
4	chr13:52464600-52494400	Weak transcription	Aorta	Aorta
5	chr13:52467000-52470200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr13:52467400-52469800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr13:52467600-52480400	Weak transcription	Fetal Lung	lung
8	chr13:52469200-52470800	Enhancers	Fetal Thymus	thymus
9	chr13:52469400-52470200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr13:52469600-52470400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr13:52469600-52470400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr13:52469600-52470400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr13:52469600-52471400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr13:52469600-52471400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr13:52469600-52471400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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