Variant report

Variant	rs12440793
Chromosome Location	chr15:45507269-45507270
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	chr15:45491035..45492770-chr15:45505625..45508217,2	K562	blood:

Variant related genes	Relation type
ENSG00000259932	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10775129	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10851421	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10851422	0.97[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs10851423	0.97[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs11070444	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12323957	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12437603	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12440238	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12440321	0.97[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12592055	0.97[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12593605	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12901114	0.97[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12902212	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12903149	0.94[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12904079	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12904265	0.96[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12904331	0.97[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12904591	0.85[ASN][1000 genomes]
rs12904815	0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12905053	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12905246	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12906537	0.97[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12906734	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12909987	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12910214	0.90[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12910270	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12910357	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12910591	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12911551	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12913123	0.97[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs12915027	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12915804	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12915965	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2899378	0.96[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2899379	0.97[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3759892	0.94[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3959644	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4439707	0.97[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs62026661	0.81[ASN][1000 genomes]
rs62026665	0.84[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs62026666	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7167731	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7171401	0.97[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7174913	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv869616	chr15:45401411-45736209	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv904187	chr15:45438537-45507738	Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv569315	chr15:45446156-45772448	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
6	nsv977712	chr15:45501081-45515127	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45493600-45508000	Weak transcription	Right Atrium	heart
2	chr15:45505200-45513400	Weak transcription	Stomach Mucosa	stomach

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