Variant report

Variant	rs1463592
Chromosome Location	chr12:56257292-56257293
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:56253710..56255659-chr12:56256074..56259018,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10128982	0.82[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1052206	0.82[CEU][hapmap];0.93[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap]
rs10783775	0.82[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap]
rs10876858	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10876862	0.82[CEU][hapmap];0.93[CHB][hapmap];0.83[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap]
rs11171688	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12298127	0.82[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.92[JPT][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12320309	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12817350	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1701698	0.82[CEU][hapmap];0.93[CHB][hapmap];0.83[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap]
rs6581086	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs705715	0.82[CEU][hapmap];0.93[CHB][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap]
rs7135133	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7297871	0.82[CEU][hapmap];0.93[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap]
rs7302957	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs7308505	0.82[CEU][hapmap];0.93[CHB][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap]
rs772461	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs772475	0.94[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs772700	0.93[CHB][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap]
rs7979046	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9739192	0.80[ASN][1000 genomes]
rs9739196	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv719	chr12:56246405-56290812	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv508675	chr12:56249598-56260508	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1463592	SDR9C7	cis	cerebellum	SCAN
rs1463592	ANKRD52	cis	parietal	SCAN
rs1463592	ATP5G2	cis	parietal	SCAN
rs1463592	GLS2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56257200-56257400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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