Variant report

Variant	rs1735448
Chromosome Location	chr3:60647540-60647541
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs12488640	0.94[ASN][1000 genomes]
rs12632090	0.92[CHB][hapmap];0.86[JPT][hapmap]
rs13085845	0.94[ASN][1000 genomes]
rs13086029	0.94[ASN][1000 genomes]
rs13096315	0.82[ASN][1000 genomes]
rs1620446	0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1623091	0.88[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];0.90[TSI][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1716703	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1716705	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1716709	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1716710	0.97[ASN][1000 genomes]
rs1716713	0.97[ASN][1000 genomes]
rs1716714	0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1716717	0.82[ASW][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];0.97[ASN][1000 genomes]
rs1716718	0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1716732	0.92[ASN][1000 genomes]
rs1716733	0.81[ASN][1000 genomes]
rs1716734	0.91[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap]
rs1716736	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs1716739	0.91[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1716753	0.85[JPT][hapmap]
rs1735440	0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1735443	0.82[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1735444	0.82[CHB][hapmap]
rs1735445	0.94[ASN][1000 genomes]
rs1735446	0.94[ASN][1000 genomes]
rs1735452	0.81[ASN][1000 genomes]
rs1735457	0.82[CHB][hapmap];0.95[CHD][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs1735458	0.86[ASN][1000 genomes]
rs1735463	0.86[ASN][1000 genomes]
rs1735467	0.91[CHB][hapmap];1.00[JPT][hapmap]
rs1735468	0.82[CHB][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.87[MEX][hapmap]
rs1735472	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1735473	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17627239	0.81[ASN][1000 genomes]
rs2682930	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs2682931	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs2682945	0.82[CHB][hapmap];0.86[JPT][hapmap]
rs2682952	0.86[ASN][1000 genomes]
rs2855998	0.82[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs2856056	0.87[CEU][hapmap];0.93[TSI][hapmap];0.83[EUR][1000 genomes]
rs2856057	0.87[CEU][hapmap];0.93[TSI][hapmap];0.83[EUR][1000 genomes]
rs2856058	0.82[CHB][hapmap];0.86[JPT][hapmap];0.83[TSI][hapmap]
rs2856068	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs62249153	0.86[ASN][1000 genomes]
rs62249156	0.95[ASN][1000 genomes]
rs62249273	0.81[ASN][1000 genomes]
rs62251488	0.86[ASN][1000 genomes]
rs62251490	0.94[ASN][1000 genomes]
rs6801067	0.81[ASN][1000 genomes]
rs986687	0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529602	chr3:60088353-60830769	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv998815	chr3:60495872-60830769	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv999828	chr3:60537384-60785274	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1735448	DNASE1L3	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60642600-60655000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr3:60646200-60655000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr3:60646400-60647600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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