Variant report

Variant	rs10496185
Chromosome Location	chr2:72748616-72748617
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	chr2:72747909..72750021-chr2:72752476..72754330,3	K562	blood:
2	chr2:72744464..72746896-chr2:72747784..72749596,2	K562	blood:

Extended variants
information (count: 162 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:155)

rs_ID	r²[population]
rs10173152	1.00[ASN][1000 genomes]
rs10175824	1.00[ASN][1000 genomes]
rs10176044	1.00[ASN][1000 genomes]
rs10207869	1.00[ASN][1000 genomes]
rs10496183	1.00[ASN][1000 genomes]
rs10496184	0.85[CEU][hapmap]
rs11126367	1.00[ASN][1000 genomes]
rs11126369	0.85[CEU][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11126370	0.82[YRI][hapmap]
rs11126378	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.89[YRI][hapmap]
rs11674508	1.00[ASN][1000 genomes]
rs11675268	0.84[CEU][hapmap];0.82[YRI][hapmap]
rs11680197	0.85[YRI][hapmap];1.00[ASN][1000 genomes]
rs11681845	1.00[ASN][1000 genomes]
rs11684981	1.00[ASN][1000 genomes]
rs11685876	0.85[CEU][hapmap];1.00[ASN][1000 genomes]
rs11689339	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.85[YRI][hapmap]
rs11689707	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11695000	0.84[CEU][hapmap];1.00[ASN][1000 genomes]
rs11884162	0.85[CEU][hapmap];1.00[ASN][1000 genomes]
rs11884225	1.00[ASN][1000 genomes]
rs11884266	0.92[CEU][hapmap];0.82[YRI][hapmap];0.84[EUR][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]
rs11892598	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11894521	1.00[ASN][1000 genomes]
rs11897200	1.00[GIH][hapmap];0.81[LWK][hapmap];0.84[MKK][hapmap];0.85[YRI][hapmap];1.00[ASN][1000 genomes]
rs11902051	1.00[ASN][1000 genomes]
rs11903453	1.00[ASN][1000 genomes]
rs11903908	0.85[YRI][hapmap];1.00[ASN][1000 genomes]
rs11903912	1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs12052508	0.85[YRI][hapmap]
rs1517179	1.00[ASN][1000 genomes]
rs1562361	0.85[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.85[YRI][hapmap]
rs17008057	1.00[ASN][1000 genomes]
rs17008082	0.85[YRI][hapmap];1.00[ASN][1000 genomes]
rs17008143	1.00[ASN][1000 genomes]
rs17008186	0.85[CEU][hapmap];1.00[ASN][1000 genomes]
rs17008188	1.00[ASN][1000 genomes]
rs17008208	0.83[ASW][hapmap];0.85[CEU][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.82[EUR][1000 genomes]
rs17008241	1.00[CEU][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17008293	1.00[CEU][hapmap];0.96[YRI][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008315	0.92[CEU][hapmap];0.89[YRI][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17008360	0.85[CEU][hapmap]
rs17040320	1.00[ASN][1000 genomes]
rs17263172	0.85[CEU][hapmap]
rs1914339	1.00[ASN][1000 genomes]
rs1949377	0.85[CEU][hapmap];1.00[ASN][1000 genomes]
rs2901190	0.85[CEU][hapmap];1.00[ASN][1000 genomes]
rs34030372	0.81[EUR][1000 genomes]
rs4507127	1.00[ASN][1000 genomes]
rs4508623	1.00[ASN][1000 genomes]
rs4852875	0.89[YRI][hapmap]
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]
rs56184446	1.00[ASN][1000 genomes]
rs56718524	1.00[ASN][1000 genomes]
rs56777837	1.00[ASN][1000 genomes]
rs57192957	0.85[EUR][1000 genomes];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	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59176504	1.00[ASN][1000 genomes]
rs59881252	1.00[ASN][1000 genomes]
rs59974816	1.00[ASN][1000 genomes]
rs60325013	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60536402	1.00[ASN][1000 genomes]
rs60563535	1.00[ASN][1000 genomes]
rs60580301	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60806585	1.00[ASN][1000 genomes]
rs6546754	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]
rs66920016	1.00[ASN][1000 genomes]
rs67085067	1.00[ASN][1000 genomes]
rs6711442	1.00[ASN][1000 genomes]
rs6711701	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6712930	1.00[ASN][1000 genomes]
rs6712989	1.00[ASN][1000 genomes]
rs6713143	0.85[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.89[YRI][hapmap]
rs6713712	1.00[CEU][hapmap];0.85[YRI][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67166018	1.00[ASN][1000 genomes]
rs6717250	1.00[ASN][1000 genomes]
rs6718052	1.00[ASN][1000 genomes]
rs6723136	1.00[ASN][1000 genomes]
rs6723380	1.00[ASN][1000 genomes]
rs6727580	0.82[YRI][hapmap];1.00[ASN][1000 genomes]
rs6731631	1.00[ASN][1000 genomes]
rs6731988	1.00[ASN][1000 genomes]
rs6733532	1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs6733538	0.85[YRI][hapmap];1.00[ASN][1000 genomes]
rs6735400	1.00[ASN][1000 genomes]
rs6738521	1.00[ASN][1000 genomes]
rs6739768	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6740390	1.00[CEU][hapmap]
rs6743881	1.00[ASN][1000 genomes]
rs6746583	1.00[ASN][1000 genomes]
rs6746586	1.00[ASN][1000 genomes]
rs67491855	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6749495	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67535553	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6755440	1.00[ASN][1000 genomes]
rs6756070	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs6758324	1.00[GIH][hapmap]
rs6758689	1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs67970313	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs719119	1.00[ASN][1000 genomes]
rs719120	1.00[ASN][1000 genomes]
rs72841783	1.00[ASN][1000 genomes]
rs72841795	1.00[ASN][1000 genomes]
rs72845175	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72845185	0.86[EUR][1000 genomes]
rs7420583	1.00[ASN][1000 genomes]
rs7424190	1.00[ASN][1000 genomes]
rs7557942	0.85[CEU][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];1.00[ASN][1000 genomes]
rs7559116	1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs7561471	1.00[ASN][1000 genomes]
rs7569059	1.00[ASN][1000 genomes]
rs7571483	1.00[ASN][1000 genomes]
rs7571517	0.85[CEU][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs7573417	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7575050	1.00[GIH][hapmap];0.81[LWK][hapmap];0.84[MKK][hapmap];0.85[YRI][hapmap];1.00[ASN][1000 genomes]
rs7577244	0.85[CEU][hapmap];1.00[ASN][1000 genomes]
rs7583268	0.85[YRI][hapmap];1.00[ASN][1000 genomes]
rs7591608	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]
rs7604083	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs7604296	1.00[ASN][1000 genomes]
rs7604818	0.93[CEU][hapmap];1.00[GIH][hapmap];0.91[TSI][hapmap];0.94[EUR][1000 genomes]
rs7607353	1.00[GIH][hapmap]
rs7608054	1.00[ASN][1000 genomes]
rs764766	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];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:7 , 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
3	nsv999179	chr2:72561463-72761103	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1008335	chr2:72561463-72819704	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv874264	chr2:72593243-72901170	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv582208	chr2:72690622-72835886	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv834257	chr2:72701083-72853548	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10496185	AUP1	cis	parietal	SCAN
rs10496185	INO80B	cis	parietal	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:72703400-72752200	Weak transcription	Duodenum Mucosa	Duodenum
2	chr2:72736600-72751000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:72741400-72760600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:72744400-72750000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:72744400-72750200	Weak transcription	Brain Substantia Nigra	brain
6	chr2:72744400-72751800	Weak transcription	Brain Angular Gyrus	brain
7	chr2:72744600-72751000	Weak transcription	Brain Anterior Caudate	brain
8	chr2:72745200-72751400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:72746000-72751400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr2:72746200-72751200	Weak transcription	Brain Hippocampus Middle	brain

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