Variant report

Variant	rs17559478
Chromosome Location	chr12:40297507-40297508
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1086490	1.00[JPT][hapmap]
rs10877837	1.00[JPT][hapmap]
rs11174370	1.00[JPT][hapmap]
rs11564133	1.00[JPT][hapmap]
rs11564139	1.00[JPT][hapmap]
rs11564160	1.00[JPT][hapmap]
rs11564223	1.00[JPT][hapmap]
rs11564282	1.00[JPT][hapmap]
rs12312535	1.00[JPT][hapmap]
rs12371119	1.00[JPT][hapmap]
rs12423473	1.00[JPT][hapmap]
rs12423682	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12423983	0.84[AMR][1000 genomes]
rs12425167	1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12427424	0.82[ASN][1000 genomes]
rs12810368	1.00[JPT][hapmap]
rs12827948	1.00[JPT][hapmap]
rs1482282	1.00[JPT][hapmap]
rs17442304	1.00[JPT][hapmap]
rs17442469	1.00[JPT][hapmap]
rs17559800	1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17560267	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17560365	0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1874558	0.85[AMR][1000 genomes]
rs2046929	1.00[JPT][hapmap]
rs2173134	1.00[JPT][hapmap];0.87[AMR][1000 genomes]
rs28370602	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs28370606	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs28370644	1.00[JPT][hapmap]
rs28370656	1.00[JPT][hapmap]
rs28370659	1.00[JPT][hapmap]
rs28740171	0.82[AMR][1000 genomes]
rs4238078	1.00[JPT][hapmap]
rs4399379	1.00[JPT][hapmap]
rs4427625	1.00[JPT][hapmap]
rs4639999	1.00[JPT][hapmap]
rs4768181	1.00[JPT][hapmap]
rs4768182	1.00[JPT][hapmap]
rs535458	1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs545385	0.87[AMR][1000 genomes]
rs549790	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6581338	1.00[JPT][hapmap]
rs73276523	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7969296	1.00[JPT][hapmap]
rs7969495	1.00[JPT][hapmap]
rs7975209	1.00[JPT][hapmap]
rs953493	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs9645805	1.00[JPT][hapmap]
rs992851	1.00[JPT][hapmap]

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	nsv899025	chr12:40191778-40321846	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv1049214	chr12:40197549-40326495	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv1046428	chr12:40226283-40439843	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv541481	chr12:40226283-40439843	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv899026	chr12:40279428-40302581	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
6	nsv558593	chr12:40279428-40317017	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40296600-40298200	Enhancers	HUVEC	blood vessel
2	chr12:40297000-40298000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr12:40297000-40300200	Enhancers	Pancreatic Islets	Pancreatic Islet
4	chr12:40297200-40298200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr12:40297200-40300600	Enhancers	Fetal Brain Male	brain

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