Variant report

Variant	rs1716722
Chromosome Location	chr3:60681361-60681362
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	ZNF143	chr3:60681335-60681614	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000232407	TF binding region

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11130780	0.82[YRI][hapmap]
rs12488640	0.83[ASN][1000 genomes]
rs13085845	0.83[ASN][1000 genomes]
rs13086029	0.83[ASN][1000 genomes]
rs13096315	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1620446	0.81[CHB][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap]
rs1623091	0.81[CHB][hapmap];0.83[ASN][1000 genomes]
rs1623349	0.81[ASN][1000 genomes]
rs1716709	0.81[CHB][hapmap];1.00[GIH][hapmap]
rs1716714	0.81[CHB][hapmap];0.83[ASN][1000 genomes]
rs1716717	0.81[ASW][hapmap];0.81[CHB][hapmap];0.86[GIH][hapmap];0.95[MEX][hapmap];0.83[AMR][1000 genomes]
rs1716718	0.81[CHB][hapmap];0.83[ASN][1000 genomes]
rs1716721	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1716723	0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1716724	1.00[CEU][hapmap]
rs1716730	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1716732	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1716733	0.96[ASN][1000 genomes]
rs1716734	0.91[CEU][hapmap];0.81[CHB][hapmap];0.82[JPT][hapmap]
rs1716736	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs1716739	0.81[CHB][hapmap];0.83[ASN][1000 genomes]
rs1716753	0.81[CHB][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs1735440	0.81[CHB][hapmap];0.81[ASN][1000 genomes]
rs1735443	0.83[ASW][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.82[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs1735444	0.97[GIH][hapmap];0.81[AMR][1000 genomes]
rs1735445	0.83[ASN][1000 genomes]
rs1735446	0.83[ASN][1000 genomes]
rs1735452	0.96[ASN][1000 genomes]
rs1735453	0.82[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1735454	1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1735457	0.91[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs1735458	0.88[ASN][1000 genomes]
rs1735463	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs1735467	0.81[CHB][hapmap]
rs1735468	0.90[CHB][hapmap];0.92[CHD][hapmap];0.82[JPT][hapmap];0.88[MKK][hapmap];0.91[ASN][1000 genomes]
rs1735475	0.81[CHB][hapmap];0.86[CHD][hapmap]
rs17627738	0.81[CHB][hapmap]
rs2142299	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs62249156	0.82[ASN][1000 genomes]
rs62251490	0.81[ASN][1000 genomes]
rs7641604	0.82[YRI][hapmap]
rs9818734	0.83[YRI][hapmap]
rs9840473	0.81[AFR][1000 genomes]
rs9845813	0.81[AFR][1000 genomes]
rs986687	0.81[CHB][hapmap];0.83[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

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:60671400-60685600	Weak transcription	Pancreas	Pancrea
2	chr3:60679800-60684000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:60681000-60685600	Weak transcription	Psoas Muscle	Psoas
4	chr3:60681200-60681400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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