Variant report

Variant	rs17007984
Chromosome Location	chr2:72485039-72485040
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:72461728..72464691-chr2:72483813..72486415,2	K562	blood:

Extended variants
information (count: 168 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:166)

rs_ID	r²[population]
rs10173152	0.88[CEU][hapmap];1.00[ASN][1000 genomes]
rs10175824	1.00[ASN][1000 genomes]
rs10176044	1.00[ASN][1000 genomes]
rs10193621	1.00[ASN][1000 genomes]
rs10197528	1.00[ASN][1000 genomes]
rs10203221	1.00[ASN][1000 genomes]
rs10207869	0.88[CEU][hapmap];1.00[ASN][1000 genomes]
rs10496183	1.00[ASN][1000 genomes]
rs1079144	1.00[ASN][1000 genomes]
rs11126367	1.00[ASN][1000 genomes]
rs11674508	1.00[ASN][1000 genomes]
rs11680197	1.00[ASN][1000 genomes]
rs11681845	1.00[ASN][1000 genomes]
rs11682749	1.00[CEU][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11684981	1.00[ASN][1000 genomes]
rs11685876	1.00[ASN][1000 genomes]
rs11685903	1.00[ASN][1000 genomes]
rs11689707	1.00[ASN][1000 genomes]
rs11695000	1.00[ASN][1000 genomes]
rs11884162	1.00[ASN][1000 genomes]
rs11884225	1.00[ASN][1000 genomes]
rs11884869	1.00[ASN][1000 genomes]
rs11887356	1.00[ASN][1000 genomes]
rs11890482	1.00[ASN][1000 genomes]
rs11891573	1.00[ASN][1000 genomes]
rs11894521	1.00[ASN][1000 genomes]
rs11897200	0.86[MEX][hapmap];1.00[ASN][1000 genomes]
rs11899270	1.00[ASN][1000 genomes]
rs11899672	1.00[ASN][1000 genomes]
rs11902051	1.00[ASN][1000 genomes]
rs11903453	1.00[ASN][1000 genomes]
rs11903908	1.00[ASN][1000 genomes]
rs11903912	0.86[MEX][hapmap];1.00[ASN][1000 genomes]
rs13411648	1.00[ASN][1000 genomes]
rs1387	1.00[ASN][1000 genomes]
rs1517179	1.00[ASN][1000 genomes]
rs17007922	1.00[GIH][hapmap];0.82[TSI][hapmap];1.00[ASN][1000 genomes]
rs17007926	1.00[GIH][hapmap];0.82[TSI][hapmap];1.00[ASN][1000 genomes]
rs17007939	1.00[ASN][1000 genomes]
rs17008057	0.86[MEX][hapmap];1.00[ASN][1000 genomes]
rs17008082	1.00[ASN][1000 genomes]
rs17008143	1.00[ASN][1000 genomes]
rs17008186	1.00[ASN][1000 genomes]
rs17008188	1.00[ASN][1000 genomes]
rs17040320	1.00[ASN][1000 genomes]
rs1914339	1.00[ASN][1000 genomes]
rs1949377	1.00[ASN][1000 genomes]
rs28503372	1.00[ASN][1000 genomes]
rs2901190	1.00[ASN][1000 genomes]
rs34172703	1.00[ASN][1000 genomes]
rs35064163	1.00[ASN][1000 genomes]
rs4507127	1.00[ASN][1000 genomes]
rs4508623	1.00[ASN][1000 genomes]
rs55700162	1.00[ASN][1000 genomes]
rs55714718	1.00[ASN][1000 genomes]
rs55727931	1.00[ASN][1000 genomes]
rs55728837	1.00[ASN][1000 genomes]
rs55825364	1.00[ASN][1000 genomes]
rs55840408	1.00[ASN][1000 genomes]
rs55939880	1.00[ASN][1000 genomes]
rs56109129	1.00[ASN][1000 genomes]
rs56173504	1.00[ASN][1000 genomes]
rs56178437	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56184446	1.00[ASN][1000 genomes]
rs56718524	1.00[ASN][1000 genomes]
rs56777837	1.00[ASN][1000 genomes]
rs57286048	1.00[ASN][1000 genomes]
rs57730885	1.00[ASN][1000 genomes]
rs58033567	1.00[ASN][1000 genomes]
rs58035683	1.00[ASN][1000 genomes]
rs58582296	1.00[ASN][1000 genomes]
rs58967293	1.00[ASN][1000 genomes]
rs59176504	1.00[ASN][1000 genomes]
rs59881252	1.00[ASN][1000 genomes]
rs59974816	1.00[ASN][1000 genomes]
rs60536402	1.00[ASN][1000 genomes]
rs60563535	1.00[ASN][1000 genomes]
rs60580301	1.00[ASN][1000 genomes]
rs60806585	1.00[ASN][1000 genomes]
rs60872571	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60977474	1.00[ASN][1000 genomes]
rs61037557	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61448485	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546751	1.00[CEU][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546754	1.00[CEU][hapmap];1.00[GIH][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546761	1.00[ASN][1000 genomes]
rs6546763	1.00[ASN][1000 genomes]
rs6546769	1.00[ASN][1000 genomes]
rs66489235	1.00[ASN][1000 genomes]
rs66539158	1.00[ASN][1000 genomes]
rs66560019	1.00[ASN][1000 genomes]
rs66827358	1.00[ASN][1000 genomes]
rs66888584	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66920016	1.00[ASN][1000 genomes]
rs67085067	1.00[ASN][1000 genomes]
rs6709233	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6709493	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6711442	1.00[ASN][1000 genomes]
rs6712930	1.00[ASN][1000 genomes]
rs6712989	1.00[ASN][1000 genomes]
rs67166018	1.00[ASN][1000 genomes]
rs6717250	1.00[ASN][1000 genomes]
rs6717899	0.88[CEU][hapmap];1.00[GIH][hapmap];0.91[TSI][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6718052	1.00[ASN][1000 genomes]
rs6723136	1.00[ASN][1000 genomes]
rs6723380	1.00[ASN][1000 genomes]
rs67235968	1.00[ASN][1000 genomes]
rs6724795	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6727580	1.00[ASN][1000 genomes]
rs6729219	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6731631	1.00[ASN][1000 genomes]
rs6731988	1.00[ASN][1000 genomes]
rs6733532	0.86[MEX][hapmap];1.00[ASN][1000 genomes]
rs6733538	1.00[ASN][1000 genomes]
rs6735400	1.00[ASN][1000 genomes]
rs6738521	1.00[ASN][1000 genomes]
rs6740982	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6743881	1.00[ASN][1000 genomes]
rs6746583	1.00[ASN][1000 genomes]
rs6746586	1.00[ASN][1000 genomes]
rs67491855	1.00[ASN][1000 genomes]
rs6755440	1.00[ASN][1000 genomes]
rs6758689	0.86[MEX][hapmap];1.00[ASN][1000 genomes]
rs68172337	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs719119	1.00[ASN][1000 genomes]
rs719120	1.00[ASN][1000 genomes]
rs72835256	1.00[ASN][1000 genomes]
rs72835276	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72841783	1.00[ASN][1000 genomes]
rs72841795	1.00[ASN][1000 genomes]
rs72845175	1.00[ASN][1000 genomes]
rs72904482	1.00[ASN][1000 genomes]
rs72908315	1.00[ASN][1000 genomes]
rs72908317	1.00[ASN][1000 genomes]
rs7420583	1.00[ASN][1000 genomes]
rs7424190	1.00[ASN][1000 genomes]
rs7557942	1.00[ASN][1000 genomes]
rs7558666	1.00[CEU][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7559116	0.86[MEX][hapmap];1.00[ASN][1000 genomes]
rs7561471	1.00[ASN][1000 genomes]
rs7565358	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7569059	1.00[ASN][1000 genomes]
rs7571483	1.00[ASN][1000 genomes]
rs7571517	1.00[ASN][1000 genomes]
rs7575050	0.86[MEX][hapmap];1.00[ASN][1000 genomes]
rs7575090	1.00[ASN][1000 genomes]
rs7575536	1.00[ASN][1000 genomes]
rs7577244	1.00[ASN][1000 genomes]
rs7577354	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7577860	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7583268	1.00[ASN][1000 genomes]
rs7585598	1.00[ASN][1000 genomes]
rs7587370	1.00[ASN][1000 genomes]
rs7591608	1.00[ASN][1000 genomes]
rs7592404	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7596126	1.00[ASN][1000 genomes]
rs7599755	1.00[ASN][1000 genomes]
rs7600134	1.00[ASN][1000 genomes]
rs7603342	1.00[ASN][1000 genomes]
rs7603535	1.00[ASN][1000 genomes]
rs7604296	0.86[MEX][hapmap];1.00[ASN][1000 genomes]
rs7607353	0.86[MEX][hapmap]
rs7608054	1.00[ASN][1000 genomes]
rs9309465	1.00[ASN][1000 genomes]
rs9677947	1.00[ASN][1000 genomes]
rs9678682	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv963919	chr2:72372956-72830387	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1005487	chr2:72464784-72819704	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs17007984	INO80B	cis	parietal	SCAN
rs17007984	TTC31	cis	cerebellum	SCAN
rs17007984	CCT7	cis	cerebellum	SCAN
rs17007984	TGFA	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72465800-72490400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:72483200-72489000	Weak transcription	Aorta	Aorta
3	chr2:72484400-72485200	Weak transcription	Fetal Heart	heart
4	chr2:72484600-72485200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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