Variant report

Variant	rs9596711
Chromosome Location	chr13:53467356-53467357
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10507571	0.93[ASN][1000 genomes]
rs12323047	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17052467	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2208987	0.93[ASN][1000 genomes]
rs57242386	0.93[ASN][1000 genomes]
rs57792869	0.93[ASN][1000 genomes]
rs58961128	0.93[ASN][1000 genomes]
rs59818222	0.93[ASN][1000 genomes]
rs60535238	0.88[ASN][1000 genomes]
rs60620275	0.93[ASN][1000 genomes]
rs7981516	0.93[ASN][1000 genomes]
rs9591475	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9591476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9591478	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9596712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9596714	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9596715	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv900090	chr13:53429453-53495715	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53461600-53471200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr13:53463000-53471200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr13:53465400-53467400	Enhancers	Stomach Mucosa	stomach
4	chr13:53466000-53468400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr13:53466400-53471000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr13:53466800-53467400	Enhancers	Fetal Stomach	stomach
7	chr13:53466800-53471000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr13:53466800-53471200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr13:53466800-53472400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr13:53467000-53467400	Enhancers	Esophagus	oesophagus
11	chr13:53467000-53467400	Enhancers	Gastric	stomach
12	chr13:53467000-53469600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr13:53467000-53471000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr13:53467200-53467400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr13:53467200-53467600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr13:53467200-53468000	Weak transcription	Fetal Brain Male	brain
17	chr13:53467200-53471000	Weak transcription	Fetal Brain Female	brain

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

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