Variant report

Variant	rs7204708
Chromosome Location	chr16:71986946-71986947
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:71977547..71980490-chr16:71985780..71987589,2	K562	blood:
2	chr16:71942932..71945142-chr16:71984421..71987167,2	K562	blood:

Extended variants
information (count: 98 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs11075908	1.00[CEU][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.88[TSI][hapmap];0.90[EUR][1000 genomes]
rs11075911	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11648353	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11648530	0.93[EUR][1000 genomes]
rs11649672	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12102548	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs12443896	0.86[AFR][1000 genomes]
rs12444829	0.91[EUR][1000 genomes]
rs12447045	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes]
rs12449139	0.89[EUR][1000 genomes]
rs12597458	0.81[YRI][hapmap]
rs12599192	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12921084	0.84[EUR][1000 genomes]
rs12926041	0.91[EUR][1000 genomes]
rs12926300	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12927205	0.86[LWK][hapmap];0.93[YRI][hapmap]
rs12930744	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12935795	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13329779	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1559399	1.00[LWK][hapmap];0.82[MKK][hapmap];1.00[YRI][hapmap]
rs1834034	0.82[EUR][1000 genomes]
rs1834035	0.95[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1981874	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.88[TSI][hapmap];0.84[EUR][1000 genomes]
rs2008675	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2018384	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2288029	0.96[CEU][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes]
rs2288031	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.88[TSI][hapmap];0.86[EUR][1000 genomes]
rs2335709	0.88[EUR][1000 genomes]
rs2335710	1.00[CEU][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.88[TSI][hapmap];0.86[EUR][1000 genomes]
rs2335711	0.84[EUR][1000 genomes]
rs2335712	1.00[CEU][hapmap];0.94[GIH][hapmap];0.89[MEX][hapmap];0.88[TSI][hapmap];0.86[EUR][1000 genomes]
rs2335713	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs2335714	1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.88[TSI][hapmap];0.86[EUR][1000 genomes]
rs2335715	0.83[EUR][1000 genomes]
rs28697038	0.88[EUR][1000 genomes]
rs2878492	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3794692	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4788447	0.82[EUR][1000 genomes]
rs4788449	1.00[CEU][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.88[TSI][hapmap];0.90[EUR][1000 genomes]
rs4788453	1.00[YRI][hapmap]
rs4788564	1.00[CEU][hapmap];0.94[GIH][hapmap];0.89[MEX][hapmap];0.88[TSI][hapmap];0.83[EUR][1000 genomes]
rs4788566	0.83[EUR][1000 genomes]
rs4788570	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs4788571	0.86[EUR][1000 genomes]
rs4788573	0.86[EUR][1000 genomes]
rs4788576	1.00[CEU][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.88[TSI][hapmap];0.89[EUR][1000 genomes]
rs4788581	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4788582	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4788584	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788585	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4788591	0.90[LWK][hapmap];0.82[MKK][hapmap];1.00[YRI][hapmap]
rs62053803	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6499542	0.91[CEU][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap]
rs6499545	0.83[EUR][1000 genomes]
rs6499551	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6499552	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6558	1.00[JPT][hapmap]
rs7184437	0.82[EUR][1000 genomes]
rs7184486	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs7187129	0.81[EUR][1000 genomes]
rs7191900	1.00[YRI][hapmap]
rs7193731	0.86[EUR][1000 genomes]
rs7194858	1.00[JPT][hapmap]
rs7205154	0.81[EUR][1000 genomes]
rs7205297	0.87[YRI][hapmap]
rs73574439	0.83[EUR][1000 genomes]
rs8044342	0.83[EUR][1000 genomes]
rs8046859	0.83[EUR][1000 genomes]
rs8050651	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs8051038	0.83[EUR][1000 genomes]
rs8054111	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8054175	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8054403	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8057124	0.96[CEU][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.88[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8058118	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8059053	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8062946	0.90[EUR][1000 genomes]
rs8063324	1.00[CEU][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8063403	0.90[EUR][1000 genomes]
rs9302631	0.90[EUR][1000 genomes]
rs9302632	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9806882	0.89[EUR][1000 genomes]
rs9806905	0.81[EUR][1000 genomes]
rs9888748	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9889011	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9921412	1.00[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9934803	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9934812	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9937936	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7204708	NRN1L	cis	parietal	SCAN
rs7204708	ZNF23	cis	parietal	SCAN
rs7204708	PSMD7	cis	parietal	SCAN

Chromatin state (count:7 , 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
4	chr16:71986600-71988200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr16:71986800-71987000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:71986800-71988800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr16:71986800-71989200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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