Variant report

Variant	rs806348
Chromosome Location	chr13:50859866-50859867
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1149864	0.95[CHB][hapmap];0.81[ASN][1000 genomes]
rs1149869	0.81[ASN][1000 genomes]
rs1269265	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1269275	0.95[CHB][hapmap];0.85[JPT][hapmap];0.81[ASN][1000 genomes]
rs1924374	0.95[CHB][hapmap];0.81[JPT][hapmap]
rs2240810	0.95[CHB][hapmap];0.81[JPT][hapmap]
rs2532968	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs806305	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs806309	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs806354	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs806356	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs806359	0.95[ASN][1000 genomes]
rs811714	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9562961	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs9568394	0.85[CHB][hapmap]
rs9568395	1.00[CEU][hapmap];0.90[CHB][hapmap];0.85[EUR][1000 genomes]
rs9568396	0.86[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases
5	nsv832608	chr13:50678628-50888413	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv900076	chr13:50710579-50912578	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50855000-50860200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr13:50856800-50861000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr13:50857000-50863200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr13:50857000-50865000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr13:50857400-50860200	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr13:50857800-50860000	Enhancers	Primary B cells from cord blood	blood
7	chr13:50858400-50860800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr13:50858800-50864600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr13:50859000-50861400	Enhancers	HepG2	liver
10	chr13:50859400-50860400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr13:50859600-50860800	Enhancers	Monocytes-CD14+_RO01746	blood

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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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