Variant report

Variant	rs12308701
Chromosome Location	chr12:44801922-44801923
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10506245	1.00[JPT][hapmap]
rs10880632	0.94[ASN][1000 genomes]
rs11182486	0.94[ASN][1000 genomes]
rs11182490	0.94[ASN][1000 genomes]
rs11182493	0.94[ASN][1000 genomes]
rs11182495	0.94[ASN][1000 genomes]
rs11182496	0.94[ASN][1000 genomes]
rs11182497	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182501	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11182517	0.81[ASN][1000 genomes]
rs11611818	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11612521	0.94[ASN][1000 genomes]
rs12297907	0.94[ASN][1000 genomes]
rs12301564	0.94[ASN][1000 genomes]
rs12308760	0.94[ASN][1000 genomes]
rs12308816	0.82[ASN][1000 genomes]
rs12310262	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12311228	0.94[ASN][1000 genomes]
rs12317228	0.94[ASN][1000 genomes]
rs12318553	0.94[ASN][1000 genomes]
rs12319211	0.94[ASN][1000 genomes]
rs12319354	0.94[ASN][1000 genomes]
rs1353143	0.88[ASN][1000 genomes]
rs1353145	0.94[ASN][1000 genomes]
rs1353146	0.94[ASN][1000 genomes]
rs1353147	0.94[ASN][1000 genomes]
rs1493755	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1527315	1.00[JPT][hapmap]
rs1643432	0.87[CEU][hapmap];0.82[GIH][hapmap];0.89[TSI][hapmap]
rs17094634	0.94[ASN][1000 genomes]
rs17094695	0.81[ASN][1000 genomes]
rs17121322	0.94[ASN][1000 genomes]
rs1716605	1.00[JPT][hapmap]
rs1716609	1.00[JPT][hapmap]
rs1726884	1.00[JPT][hapmap]
rs1726889	1.00[JPT][hapmap]
rs1798023	1.00[JPT][hapmap]
rs1798032	1.00[JPT][hapmap]
rs1873978	0.94[ASN][1000 genomes]
rs1873980	0.94[ASN][1000 genomes]
rs1873981	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4639992	0.87[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.80[MEX][hapmap];0.83[MKK][hapmap];0.85[YRI][hapmap]
rs4768559	1.00[JPT][hapmap]
rs55781129	0.81[ASN][1000 genomes]
rs55962853	0.81[ASN][1000 genomes]
rs56020032	0.81[ASN][1000 genomes]
rs56115011	0.94[ASN][1000 genomes]
rs56318423	0.81[ASN][1000 genomes]
rs59255697	0.81[ASN][1000 genomes]
rs60837979	0.81[ASN][1000 genomes]
rs68107418	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7132743	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7134756	0.94[ASN][1000 genomes]
rs7299010	0.81[ASN][1000 genomes]
rs7302676	0.81[ASN][1000 genomes]
rs73094334	0.94[ASN][1000 genomes]
rs7309948	0.88[ASN][1000 genomes]
rs7314412	1.00[JPT][hapmap]
rs74085067	0.81[ASN][1000 genomes]
rs74085071	0.81[ASN][1000 genomes]
rs74085073	0.81[ASN][1000 genomes]
rs74085078	0.81[ASN][1000 genomes]
rs751921	0.94[ASN][1000 genomes]
rs7953681	0.81[ASN][1000 genomes]
rs7957832	0.81[ASN][1000 genomes]
rs7958300	0.81[ASN][1000 genomes]
rs7958770	0.81[ASN][1000 genomes]
rs7960681	0.81[ASN][1000 genomes]
rs7961768	0.91[EUR][1000 genomes]
rs7962332	0.94[ASN][1000 genomes]
rs7964751	0.94[ASN][1000 genomes]
rs7965110	0.94[ASN][1000 genomes]
rs7965383	0.94[ASN][1000 genomes]
rs7969400	0.94[ASN][1000 genomes]
rs7969428	0.94[ASN][1000 genomes]
rs7969466	1.00[JPT][hapmap]
rs7969614	1.00[ASN][1000 genomes]
rs7970601	0.81[ASN][1000 genomes]
rs7971520	0.81[ASN][1000 genomes]
rs7972882	0.94[ASN][1000 genomes]
rs7978776	0.94[ASN][1000 genomes]
rs7979642	0.81[ASN][1000 genomes]
rs840772	0.87[CEU][hapmap];0.82[GIH][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes]
rs840773	1.00[JPT][hapmap]
rs840774	1.00[JPT][hapmap]
rs859016	1.00[JPT][hapmap]
rs863482	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
rs12308701	PDHA2	trans	cerebellum	SCAN
rs12308701	PUS7L	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44799600-44802400	Weak transcription	H1 Cell Line	embryonic stem cell

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