Variant report

Variant	rs2731063
Chromosome Location	chr12:48876223-48876224
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:48875260..48877080-chr12:48883909..48886028,2	K562	blood:

Variant related genes	Relation type
ENSG00000177627	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10747550	0.93[CEU][hapmap];0.84[GIH][hapmap];0.85[TSI][hapmap]
rs10783262	0.92[CEU][hapmap]
rs1895999	0.93[CEU][hapmap];0.81[GIH][hapmap];0.85[TSI][hapmap]
rs2252234	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2468351	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2468939	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2705124	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2705125	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2705131	0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2705134	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2731092	0.90[CHB][hapmap];0.85[CHD][hapmap];0.86[GIH][hapmap]
rs2731096	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2731099	0.89[CHB][hapmap]
rs2731105	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2731106	0.84[CHB][hapmap];0.82[JPT][hapmap]
rs2732447	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2956465	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2956466	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34478996	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34801828	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4369449	0.90[CHB][hapmap];0.85[JPT][hapmap]
rs4492859	0.93[CEU][hapmap];0.97[GIH][hapmap];0.89[TSI][hapmap]
rs4635128	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7139348	0.90[CHB][hapmap];0.81[CHD][hapmap];0.86[GIH][hapmap]
rs71464905	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7294585	0.92[YRI][hapmap]
rs7309958	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7956260	0.97[EUR][1000 genomes];0.97[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	nsv427911	chr12:48670336-48979396	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv975415	chr12:48873981-48881500	Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs2731063	FAM186B	cis	parietal	SCAN
rs2731063	MGC35033	cis	multi-tissue	Pritchard
rs2731063	C12orf54	cis	lymphoblastoid	seeQTL
rs2731063	GPD1	cis	cerebellum	SCAN
rs2731063	C12orf54	cis	multi-tissue	Pritchard
rs2731063	ASB8	cis	parietal	SCAN

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
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