Variant report

Variant	rs17147723
Chromosome Location	chr7:124576298-124576299
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	chr7:124570250..124573246-chr7:124575640..124577419,2	K562	blood:

Extended variants
information (count: 89 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10256073	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs10266152	0.94[ASW][hapmap];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];0.92[YRI][hapmap];0.85[EUR][1000 genomes]
rs10281773	0.86[EUR][1000 genomes]
rs1031952	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.84[YRI][hapmap]
rs10500102	0.94[CHB][hapmap];0.96[CHD][hapmap];0.94[JPT][hapmap]
rs10954061	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap]
rs10954064	0.80[EUR][1000 genomes]
rs11761435	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.94[TSI][hapmap];0.92[YRI][hapmap]
rs11766412	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11767519	0.87[CHB][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.89[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11768553	0.83[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11770818	0.87[CHB][hapmap];0.81[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.81[MEX][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11771004	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.91[YRI][hapmap]
rs11772420	0.82[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];0.85[YRI][hapmap]
rs11972411	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11978268	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1248737	0.93[CHB][hapmap];0.94[JPT][hapmap]
rs12532038	0.87[CHB][hapmap];0.85[CHD][hapmap];0.93[GIH][hapmap];0.81[JPT][hapmap]
rs12533661	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12534983	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12537983	0.83[CEU][hapmap];0.86[CHB][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12538061	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12539481	0.82[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12706625	1.00[ASW][hapmap];0.87[CHB][hapmap];0.98[GIH][hapmap];0.81[JPT][hapmap];0.92[LWK][hapmap];0.86[MEX][hapmap];0.93[MKK][hapmap];0.89[TSI][hapmap];0.81[YRI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12706627	0.82[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13222197	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13228358	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13240050	0.86[EUR][1000 genomes]
rs1404897	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap]
rs1471570	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs1481334	0.86[EUR][1000 genomes]
rs1552116	0.94[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.86[MEX][hapmap]
rs1552117	0.94[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.81[MEX][hapmap]
rs17147889	1.00[CHB][hapmap];0.96[CHD][hapmap];0.94[JPT][hapmap]
rs2101100	0.82[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2127968	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2127969	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2127970	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2291207	0.94[ASW][hapmap];0.96[CEU][hapmap];0.87[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];0.89[LWK][hapmap];0.95[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2299904	0.81[CHB][hapmap]
rs2402761	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28820412	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2929322	0.87[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];0.88[YRI][hapmap]
rs33964002	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34326887	0.81[EUR][1000 genomes]
rs35146319	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35423300	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4141075	0.81[CHB][hapmap]
rs4360236	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs4501522	0.83[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];0.86[EUR][1000 genomes]
rs4639456	0.81[CHB][hapmap]
rs4728005	0.81[CHB][hapmap]
rs60678110	0.90[EUR][1000 genomes]
rs612391	0.93[CHB][hapmap];0.93[JPT][hapmap];0.89[YRI][hapmap]
rs62480260	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62480274	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs627823	0.93[CHB][hapmap];0.87[JPT][hapmap]
rs6466959	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs650653	0.94[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.86[MEX][hapmap]
rs651988	0.87[CHB][hapmap];0.86[CHD][hapmap];0.88[JPT][hapmap];0.86[MEX][hapmap]
rs663056	0.94[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap]
rs664062	0.87[CHB][hapmap];0.89[CHD][hapmap];0.89[GIH][hapmap];0.88[JPT][hapmap];0.90[MEX][hapmap]
rs6945563	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6946962	0.81[CEU][hapmap];0.85[CHB][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6965957	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs6966054	0.85[CHB][hapmap]
rs719974	0.80[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs727521	0.86[EUR][1000 genomes]
rs73432439	0.94[ASN][1000 genomes]
rs7782351	0.81[EUR][1000 genomes]
rs7784168	0.87[CHB][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.86[MEX][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes]
rs7784285	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7786989	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7787570	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7787804	0.87[CHB][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.83[MKK][hapmap];0.91[TSI][hapmap]
rs7791488	0.92[YRI][hapmap]
rs7794637	0.87[ASW][hapmap];0.87[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.84[LWK][hapmap];0.90[MKK][hapmap];0.89[TSI][hapmap];0.84[YRI][hapmap]
rs7801755	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7804052	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7806890	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7811124	1.00[CEU][hapmap]
rs967297	0.94[ASW][hapmap];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];0.92[YRI][hapmap];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	esv3446198	chr7:124358002-124586856	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv889135	chr7:124462081-124584834	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv889137	chr7:124513770-124584834	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv889138	chr7:124518766-124584834	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv608342	chr7:124549573-124600505	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv1016655	chr7:124575684-124684279	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17147723	POT1	cis	parietal	SCAN
rs17147723	IMPDH1	cis	cerebellum	SCAN
rs17147723	POT1	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124570200-124585400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:124575400-124580200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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