Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr12:48899243-48899424	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:116380272..116382197-chr12:48898773..48900387,2	MCF-7	breast:

Variant related genes	Relation type
OR8S1	TF binding region
ENSG00000258121	TF binding region

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10875832	0.85[EUR][1000 genomes]
rs11168572	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11612896	0.89[CHB][hapmap]
rs11829869	0.89[CHB][hapmap]
rs11832311	0.89[CHB][hapmap]
rs17123105	0.88[CHB][hapmap]
rs17123108	0.83[CHB][hapmap]
rs2068293	0.89[CHB][hapmap]
rs2464563	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2464564	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2464566	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2468348	0.80[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs2468349	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2468350	0.84[ASN][1000 genomes]
rs2705124	0.81[YRI][hapmap]
rs2705125	0.81[YRI][hapmap]
rs2705133	0.80[LWK][hapmap]
rs2705135	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2705157	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2705160	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2705165	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2712611	0.89[EUR][1000 genomes]
rs2731066	0.94[CHB][hapmap]
rs2731072	1.00[CEU][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs2731085	0.83[AFR][1000 genomes]
rs2731105	0.81[YRI][hapmap]
rs4146339	0.89[CHB][hapmap]
rs4146340	0.93[CHB][hapmap]
rs4237857	0.89[CHB][hapmap]
rs4265629	0.89[CHB][hapmap]
rs4344535	0.89[CHB][hapmap]
rs4500527	0.89[CHB][hapmap]
rs4620769	0.89[CHB][hapmap]
rs4760712	0.89[CHB][hapmap]
rs7956679	0.89[CHB][hapmap]
rs7966826	0.89[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2731074	LMBR1L	cis	cerebellum	SCAN
rs2731074	C12orf54	cis	lymphoblastoid	seeQTL
rs2731074	LALBA	cis	cerebellum	SCAN
rs2731074	H1FNT	cis	parietal	SCAN

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

No data

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