Variant report

Variant	rs12460733
Chromosome Location	chr19:42147089-42147090
allele	A/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:13)

rs_ID	r²[population]
rs12459934	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12460742	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12461373	0.90[EUR][1000 genomes]
rs12979109	0.90[EUR][1000 genomes]
rs2109072	0.82[EUR][1000 genomes]
rs3928915	0.84[EUR][1000 genomes]
rs3928918	0.83[EUR][1000 genomes]
rs3928919	0.83[EUR][1000 genomes]
rs55973747	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7250222	0.83[EUR][1000 genomes]
rs7256597	0.82[EUR][1000 genomes]
rs7257962	0.82[EUR][1000 genomes]
rs73045046	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057624	chr19:42057334-42152828	Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1058847	chr19:42057334-42172442	Bivalent/Poised TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1063241	chr19:42057334-42175160	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv519408	chr19:42066279-42171906	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3319146	chr19:42082639-42212929	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	esv3319147	chr19:42082742-42212770	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	esv3422975	chr19:42106166-42212774	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42143200-42148600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr19:42144000-42147200	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr19:42144000-42147400	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr19:42144000-42147600	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr19:42144400-42148600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr19:42145400-42147600	Enhancers	Primary B cells from cord blood	blood
7	chr19:42145600-42147200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
8	chr19:42146200-42152600	Weak transcription	Esophagus	oesophagus
9	chr19:42146400-42148000	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr19:42146600-42147200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
11	chr19:42146600-42147200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
12	chr19:42146600-42148800	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr19:42147000-42147200	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	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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