Variant report

Variant	rs9972887
Chromosome Location	chr17:20876472-20876473
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1045215	0.84[CEU][hapmap];1.00[CHB][hapmap]
rs10512423	0.84[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap]
rs11204325	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.88[JPT][hapmap];0.93[MEX][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11204326	0.94[JPT][hapmap]
rs11204327	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11204329	1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11541311	0.84[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.92[MEX][hapmap];0.80[TSI][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11650623	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11651078	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11651500	0.81[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11652224	0.81[AMR][1000 genomes]
rs11653213	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11653504	0.81[AMR][1000 genomes]
rs11654801	0.84[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.92[MEX][hapmap];0.85[AMR][1000 genomes]
rs11655512	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11656525	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11656662	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11656837	0.83[ASN][1000 genomes]
rs11658178	0.84[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.92[MEX][hapmap];0.80[TSI][hapmap];0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11658389	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11658671	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11658722	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11658742	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11658791	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11869271	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11870338	1.00[CHB][hapmap]
rs16942330	0.84[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.81[AMR][1000 genomes]
rs16962375	0.84[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.92[MEX][hapmap];0.80[TSI][hapmap];0.87[YRI][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16962469	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16962470	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2009757	0.88[ASN][1000 genomes]
rs2291035	0.84[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.86[ASN][1000 genomes]
rs3785544	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs3891644	0.84[CEU][hapmap];0.91[CHB][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4545877	0.94[JPT][hapmap]
rs4985937	0.94[EUR][1000 genomes]
rs4985938	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4985939	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4985940	0.94[JPT][hapmap]
rs4985943	0.86[ASN][1000 genomes]
rs4985944	0.90[ASN][1000 genomes]
rs62055504	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62055511	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62056764	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62056765	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62056768	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62056770	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62056771	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62056832	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs716959	0.84[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7215006	0.94[JPT][hapmap]
rs7216145	0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs7217797	1.00[CEU][hapmap];0.82[CHB][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7218520	0.92[CHB][hapmap];1.00[CHD][hapmap];0.91[ASN][1000 genomes]
rs7221189	0.82[ASN][1000 genomes]
rs7501525	0.83[ASN][1000 genomes]
rs8079468	0.83[CEU][hapmap];1.00[CHB][hapmap];0.88[ASN][1000 genomes]
rs8080233	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9325900	0.80[ASN][1000 genomes]
rs9896109	0.94[JPT][hapmap];0.82[ASN][1000 genomes]
rs9905095	1.00[CHB][hapmap];0.94[CHD][hapmap];0.92[GIH][hapmap]
rs9914432	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751619	chr17:20462908-20914156	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv1064365	chr17:20801739-20890716	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv949097	chr17:20801739-21406355	Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv529759	chr17:20839079-21529632	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
5	nsv2006	chr17:20846763-20892730	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20848200-20896600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr17:20852800-20882600	Weak transcription	K562	blood
3	chr17:20859000-20881800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr17:20862600-20890800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr17:20866000-20886600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr17:20868000-20884800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr17:20869600-20880400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr17:20870000-20883000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr17:20870600-20880400	Weak transcription	HepG2	liver
10	chr17:20871800-20886800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr17:20873200-20886400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr17:20873200-20890200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr17:20874600-20878800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr17:20874600-20896600	Weak transcription	Spleen	Spleen
15	chr17:20875400-20881000	Weak transcription	Primary B cells from peripheral blood	blood

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