Variant report

Variant	rs12461345
Chromosome Location	chr19:52012858-52012859
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	chr19:52012622..52015355-chr19:52022475..52024820,2	K562	blood:

Variant related genes	Relation type
ENSG00000268777	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10402495	0.97[ASN][1000 genomes]
rs10419489	0.97[ASN][1000 genomes]
rs10421023	0.97[ASN][1000 genomes]
rs10421468	0.97[ASN][1000 genomes]
rs12460000	0.82[EUR][1000 genomes]
rs12461323	1.00[ASN][1000 genomes]
rs12463300	0.81[ASN][1000 genomes]
rs2034889	0.98[ASN][1000 genomes]
rs2034890	0.95[EUR][1000 genomes]
rs2034891	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3810105	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62116175	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62116177	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62116178	0.97[ASN][1000 genomes]
rs62116179	0.97[ASN][1000 genomes]
rs7246846	0.95[ASN][1000 genomes]
rs8110247	0.97[ASN][1000 genomes]
rs8113414	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9304717	0.97[ASN][1000 genomes]
rs962129	0.93[ASN][1000 genomes]
rs962130	0.93[ASN][1000 genomes]
rs9676254	0.97[ASN][1000 genomes]
rs9676256	0.97[ASN][1000 genomes]
rs9676266	0.97[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	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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52002600-52015000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr19:52011800-52013000	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr19:52011800-52013200	Weak transcription	Fetal Intestine Large	intestine
4	chr19:52012000-52013400	Weak transcription	Fetal Intestine Small	intestine
5	chr19:52012400-52013400	Weak transcription	Primary B cells from cord blood	blood
6	chr19:52012400-52014600	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr19:52012600-52014800	Enhancers	K562	blood
8	chr19:52012800-52013200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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