Variant report

Variant	rs1493758
Chromosome Location	chr12:44791617-44791618
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 73 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10506245	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10785500	1.00[CHB][hapmap]
rs10880632	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11182490	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11182493	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11182495	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11182496	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11612521	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11837624	1.00[ASN][1000 genomes]
rs12297907	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12301564	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12308760	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12308816	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12317228	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12318553	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12319211	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12319354	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1353143	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1353145	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1353146	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1353147	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1452263	1.00[CHB][hapmap]
rs1527315	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1622682	1.00[CHB][hapmap]
rs1625442	1.00[CHB][hapmap]
rs1643432	0.85[CEU][hapmap];1.00[CHB][hapmap];0.80[TSI][hapmap]
rs1644007	1.00[CHB][hapmap]
rs1644014	1.00[CHB][hapmap]
rs17094634	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17094666	1.00[ASN][1000 genomes]
rs17121316	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17121322	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1716605	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1716609	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1726874	1.00[CHB][hapmap]
rs1726884	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1726887	1.00[CHB][hapmap]
rs1726889	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1726890	1.00[CHB][hapmap]
rs1798020	1.00[CHB][hapmap]
rs1798023	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1798027	1.00[CHB][hapmap]
rs1798032	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1873978	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1873980	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4639992	1.00[JPT][hapmap]
rs4768559	1.00[JPT][hapmap]
rs55726837	1.00[ASN][1000 genomes]
rs56115011	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7134756	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7299010	0.91[AMR][1000 genomes]
rs7304503	1.00[ASN][1000 genomes]
rs73090673	0.81[EUR][1000 genomes]
rs7309287	1.00[ASN][1000 genomes]
rs73094334	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7314412	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs73276296	1.00[ASN][1000 genomes]
rs73276299	1.00[ASN][1000 genomes]
rs7962332	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7964751	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7965110	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7965383	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7969400	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7969428	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7969466	1.00[JPT][hapmap]
rs7972882	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7978776	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs840773	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs840774	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs859016	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs863482	1.00[CHB][hapmap];1.00[JPT][hapmap]

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	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1038498	chr12:44679455-44816572	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1493758	PUS7L	cis	cerebellum	SCAN
rs1493758	SRSF2IP	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44791000-44792200	Enhancers	Brain Germinal Matrix	brain
2	chr12:44791400-44791800	Weak transcription	Fetal Intestine Large	intestine
3	chr12:44791600-44792200	Enhancers	Right Atrium	heart

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