Variant report

Variant	rs2762049
Chromosome Location	chr13:50822363-50822364
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs2580188	0.82[CHB][hapmap]
rs2762060	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs706606	0.92[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs806292	0.91[ASN][1000 genomes]
rs806293	0.86[ASN][1000 genomes]
rs806295	0.92[ASN][1000 genomes]
rs806296	0.84[ASN][1000 genomes]
rs806297	0.83[ASN][1000 genomes]
rs806316	0.92[ASN][1000 genomes]
rs806319	0.85[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs806321	0.84[CHB][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs806322	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs806334	0.82[ASN][1000 genomes]
rs806349	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	nsv561631	chr13:50761619-50846748	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50812600-50822600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr13:50819400-50822800	Weak transcription	Primary monocytes fromperipheralblood	blood
3	chr13:50819600-50822800	Weak transcription	Primary B cells from peripheral blood	blood
4	chr13:50819800-50822800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr13:50820000-50822800	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr13:50820000-50823000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr13:50820200-50829200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr13:50821200-50822800	Weak transcription	HepG2	liver
9	chr13:50822000-50824000	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr13:50822000-50824600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr13:50822200-50822400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr13:50822200-50823600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr13:50822200-50823600	Enhancers	Primary T cells fromperipheralblood	blood
14	chr13:50822200-50823600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr13:50822200-50824000	Enhancers	Fetal Thymus	thymus
16	chr13:50822200-50824200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr13:50822200-50824200	Enhancers	Thymus	Thymus
18	chr13:50822200-50824200	Enhancers	Dnd41	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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