Variant report

Variant	rs12463300
Chromosome Location	chr19:52016530-52016531
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:52016043..52018048-chr19:52074686..52077143,2	K562	blood:
2	chr19:52016307..52018476-chr19:52032944..52035173,2	K562	blood:

Variant related genes	Relation type
ENSG00000105497	Chromatin interaction
ENSG00000105492	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10221507	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10421023	0.83[CHD][hapmap];0.90[JPT][hapmap]
rs10421468	0.90[JPT][hapmap]
rs11084084	0.86[EUR][1000 genomes]
rs11084085	1.00[ASW][hapmap];0.95[TSI][hapmap];0.86[EUR][1000 genomes]
rs12460678	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12461323	0.81[ASN][1000 genomes]
rs12461345	0.81[ASN][1000 genomes]
rs12461433	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12461762	0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12461773	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12462104	0.82[EUR][1000 genomes]
rs12463035	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17239287	1.00[ASW][hapmap];0.82[CEU][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2005199	1.00[ASW][hapmap];0.95[TSI][hapmap];0.86[EUR][1000 genomes]
rs2034891	0.88[CHD][hapmap];0.81[JPT][hapmap]
rs2168642	0.96[ASN][1000 genomes]
rs2290659	0.86[EUR][1000 genomes]
rs2290661	1.00[ASW][hapmap];0.95[TSI][hapmap];0.86[EUR][1000 genomes]
rs2305771	0.80[EUR][1000 genomes]
rs3810105	0.88[CHD][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs4801872	0.88[EUR][1000 genomes]
rs4802802	0.88[EUR][1000 genomes]
rs4802803	0.88[EUR][1000 genomes]
rs62113284	0.86[EUR][1000 genomes]
rs62116175	0.81[ASN][1000 genomes]
rs62116177	0.81[ASN][1000 genomes]
rs62116200	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62116201	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62116203	0.88[EUR][1000 genomes]
rs62116204	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62116205	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6509545	0.96[ASN][1000 genomes]
rs7246846	0.85[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap]
rs73559130	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73559152	0.82[EUR][1000 genomes]
rs73559183	0.86[EUR][1000 genomes]
rs8106176	0.94[ASN][1000 genomes]
rs8106598	0.85[CHB][hapmap];0.88[CHD][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs8110247	0.83[CHD][hapmap];0.90[JPT][hapmap]
rs8113414	0.85[CHB][hapmap];0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs962129	0.85[CHB][hapmap];0.87[CHD][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs962130	0.85[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs9676254	0.83[CHD][hapmap];0.90[JPT][hapmap]
rs9676256	0.83[CHD][hapmap];0.90[JPT][hapmap]
rs9676266	0.83[CHD][hapmap];0.90[JPT][hapmap]
rs9676272	0.90[JPT][hapmap]
rs9807825	0.83[AMR][1000 genomes];0.88[EUR][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	nsv1066308	chr19:51680133-52103974	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv544049	chr19:51680133-52103974	Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	nsv544051	chr19:51944903-52147459	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	esv2758504	chr19:51991896-52266700	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	542 gene(s)	inside rSNPs	diseases
5	esv2758767	chr19:51991896-52604625	Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	578 gene(s)	inside rSNPs	diseases
6	nsv469584	chr19:52001381-52151821	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv482654	chr19:52001381-52151821	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52014800-52017400	Weak transcription	K562	blood

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