Variant report

Variant	rs1035543
Chromosome Location	chr16:71983772-71983773
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:71981622..71984385-chr16:71994653..71997032,2	MCF-7	breast:

Extended variants
information (count: 78 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10852508	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11647844	0.82[ASN][1000 genomes]
rs11647947	0.82[ASN][1000 genomes]
rs12051425	0.92[GIH][hapmap];0.84[YRI][hapmap]
rs12445043	0.82[ASN][1000 genomes]
rs12445713	0.82[ASN][1000 genomes]
rs12447423	0.85[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12447856	0.83[CEU][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap]
rs12448111	0.80[ASN][1000 genomes]
rs12600153	0.85[EUR][1000 genomes]
rs12600163	0.91[CEU][hapmap];0.90[JPT][hapmap];0.84[YRI][hapmap];0.85[EUR][1000 genomes]
rs12708919	0.88[ASW][hapmap]
rs12708920	0.82[ASN][1000 genomes]
rs12920243	0.82[CEU][hapmap]
rs12925901	0.90[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs12926353	0.82[ASN][1000 genomes]
rs12927381	0.82[ASN][1000 genomes]
rs12930206	0.83[CEU][hapmap];0.89[TSI][hapmap]
rs13332113	0.85[EUR][1000 genomes]
rs13332180	0.91[CEU][hapmap];0.85[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];0.84[YRI][hapmap];0.86[EUR][1000 genomes]
rs13337118	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1392483	0.82[CEU][hapmap]
rs1549292	0.85[CHB][hapmap]
rs17286411	0.81[JPT][hapmap]
rs1834033	0.90[EUR][1000 genomes]
rs2036338	0.83[CEU][hapmap];0.83[MEX][hapmap];0.89[TSI][hapmap]
rs2291947	0.91[CEU][hapmap];0.90[JPT][hapmap];0.84[YRI][hapmap];0.86[EUR][1000 genomes]
rs2303220	0.87[ASW][hapmap];0.90[CHB][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.86[MKK][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2878406	0.90[ASN][1000 genomes]
rs34111614	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4462592	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4538017	0.91[CEU][hapmap];0.85[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];0.84[YRI][hapmap];0.86[EUR][1000 genomes]
rs4788448	0.85[EUR][1000 genomes]
rs4788558	0.83[CEU][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap]
rs4788567	0.91[CEU][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.84[LWK][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];0.84[YRI][hapmap];0.86[EUR][1000 genomes]
rs4788572	0.85[EUR][1000 genomes]
rs4788574	0.84[EUR][1000 genomes]
rs4788578	0.89[EUR][1000 genomes]
rs4788587	0.92[GIH][hapmap];0.84[YRI][hapmap]
rs55702379	0.81[EUR][1000 genomes]
rs56309616	0.80[EUR][1000 genomes]
rs58114621	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs58609735	0.85[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs60075093	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60740701	0.85[EUR][1000 genomes]
rs7185997	0.83[CEU][hapmap]
rs7186518	0.81[ASN][1000 genomes]
rs7186712	0.82[ASN][1000 genomes]
rs7204798	0.92[GIH][hapmap];0.88[YRI][hapmap]
rs7350856	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8046159	0.82[ASN][1000 genomes]
rs8046703	0.85[ASN][1000 genomes]
rs8051124	0.82[ASN][1000 genomes]
rs8051364	0.82[ASN][1000 genomes]
rs8052028	0.85[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs8060867	0.86[CEU][hapmap]
rs951939	0.83[CEU][hapmap]
rs952159	0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs952160	0.96[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9889100	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9921705	0.87[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs9925441	0.87[EUR][1000 genomes]
rs9925684	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9933095	0.88[YRI][hapmap]
rs9936965	0.85[EUR][1000 genomes]
rs9937626	0.86[EUR][1000 genomes]
rs9939455	0.83[CEU][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap]
rs9940990	0.83[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv1056439	chr16:71916498-72051144	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv1055854	chr16:71922144-72082886	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv906893	chr16:71922663-71988728	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	n/a
6	nsv516948	chr16:71965725-71988728	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
7	nsv833273	chr16:71971805-72152854	Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
8	esv2758430	chr16:71976344-72274347	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
9	esv2758654	chr16:71976344-72274347	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
10	nsv428329	chr16:71976344-72274347	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1035543	PHLPPL	cis	multi-tissue	Pritchard
rs1035543	TMEM208	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71968800-71995400	Weak transcription	Right Atrium	heart
2	chr16:71969600-71990600	Weak transcription	Adipose Nuclei	Adipose
3	chr16:71969600-71999200	Weak transcription	Liver	Liver

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