Variant report

Variant	rs1322948
Chromosome Location	chr13:53774024-53774025
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr13:53773920-53774070	GM12873	blood:	n/a	n/a

Variant related genes	Relation type
PCDH8P1	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs12860317	0.87[ASN][1000 genomes]
rs1322937	0.81[ASN][1000 genomes]
rs1322953	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1322954	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1322959	0.81[ASN][1000 genomes]
rs1322960	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13353100	0.87[ASN][1000 genomes]
rs1343603	0.84[EUR][1000 genomes]
rs1407688	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1407689	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1885767	0.85[EUR][1000 genomes]
rs1909650	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1923770	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1923772	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1951724	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1951725	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2004422	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2038647	0.83[EUR][1000 genomes]
rs2038648	0.84[ASN][1000 genomes]
rs2759674	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2759713	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2759714	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2806937	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2806940	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2806947	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2806965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2806968	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2806985	0.82[EUR][1000 genomes]
rs2806994	0.86[EUR][1000 genomes]
rs4886312	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5008125	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71430868	0.87[ASN][1000 genomes]
rs9536375	0.87[ASN][1000 genomes]
rs9536379	0.81[ASN][1000 genomes]
rs9596771	0.87[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	nsv1050969	chr13:53665927-54064861	Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv3427175	chr13:53773776-53776324	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53766400-53774200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:53773400-53775400	Weak transcription	Brain Anterior Caudate	brain
3	chr13:53773800-53774800	Bivalent Enhancer	Fetal Brain Female	brain
4	chr13:53774000-53774200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr13:53774000-53774600	Bivalent Enhancer	Fetal Brain Male	brain
6	chr13:53774000-53774800	Bivalent Enhancer	Brain Germinal Matrix	brain

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