Variant report

Variant	rs1367919
Chromosome Location	chr2:168468707-168468708
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	chr2:168412011..168414014-chr2:168467499..168469834,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10177694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1079438	0.93[ASN][1000 genomes]
rs1079439	0.93[ASN][1000 genomes]
rs1079440	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10930274	0.82[EUR][1000 genomes]
rs1227106	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1227122	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1235206	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1236836	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1237905	0.81[EUR][1000 genomes]
rs12612088	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1367921	0.95[EUR][1000 genomes]
rs1431901	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1615054	0.91[EUR][1000 genomes]
rs1653383	0.82[EUR][1000 genomes]
rs1653385	0.83[EUR][1000 genomes]
rs1653432	0.82[EUR][1000 genomes]
rs1730715	0.82[EUR][1000 genomes]
rs1730726	0.93[ASN][1000 genomes]
rs1821135	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1835746	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1852903	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1852904	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2464039	0.83[EUR][1000 genomes]
rs4667539	0.82[AFR][1000 genomes]
rs4667958	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4667959	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6733068	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs734283	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs734284	0.93[ASN][1000 genomes]
rs735424	0.93[ASN][1000 genomes]
rs891741	0.93[ASN][1000 genomes]
rs891742	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491872	chr2:168220323-168737986	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv834449	chr2:168340043-168511856	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv583592	chr2:168356232-168721539	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv583594	chr2:168461161-168597986	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1367919	UBR3	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168464200-168476600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:168464600-168473600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr2:168464600-168474200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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