Variant report

Variant	rs7309948
Chromosome Location	chr12:44895994-44895995
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10880632	0.81[ASN][1000 genomes]
rs11182486	0.81[ASN][1000 genomes]
rs11182490	0.81[ASN][1000 genomes]
rs11182493	0.81[ASN][1000 genomes]
rs11182495	0.81[ASN][1000 genomes]
rs11182496	0.81[ASN][1000 genomes]
rs11182497	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs11182501	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11182517	0.94[ASN][1000 genomes]
rs11611818	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11612521	0.81[ASN][1000 genomes]
rs12297907	0.81[ASN][1000 genomes]
rs12301564	0.81[ASN][1000 genomes]
rs12308701	0.88[ASN][1000 genomes]
rs12308760	0.81[ASN][1000 genomes]
rs12310262	0.83[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs12311228	0.81[ASN][1000 genomes]
rs12317228	0.81[ASN][1000 genomes]
rs12318553	0.81[ASN][1000 genomes]
rs12319211	0.81[ASN][1000 genomes]
rs12319354	0.81[ASN][1000 genomes]
rs1353145	0.81[ASN][1000 genomes]
rs1353146	0.81[ASN][1000 genomes]
rs1353147	0.81[ASN][1000 genomes]
rs1493755	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17094634	0.81[ASN][1000 genomes]
rs17094695	0.94[ASN][1000 genomes]
rs17121322	0.81[ASN][1000 genomes]
rs1873978	0.81[ASN][1000 genomes]
rs1873980	0.81[ASN][1000 genomes]
rs1873981	0.88[ASN][1000 genomes]
rs28790945	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4639992	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55781129	0.94[ASN][1000 genomes]
rs55962853	0.94[ASN][1000 genomes]
rs56020032	0.94[ASN][1000 genomes]
rs56115011	0.81[ASN][1000 genomes]
rs56318423	0.94[ASN][1000 genomes]
rs59255697	0.94[ASN][1000 genomes]
rs60837979	0.94[ASN][1000 genomes]
rs68107418	0.88[ASN][1000 genomes]
rs7132743	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs7134756	0.81[ASN][1000 genomes]
rs7299010	0.94[ASN][1000 genomes]
rs7302676	0.94[ASN][1000 genomes]
rs73094334	0.81[ASN][1000 genomes]
rs74085067	0.94[ASN][1000 genomes]
rs74085071	0.94[ASN][1000 genomes]
rs74085073	0.94[ASN][1000 genomes]
rs74085078	0.94[ASN][1000 genomes]
rs751921	0.81[ASN][1000 genomes]
rs7953681	0.94[ASN][1000 genomes]
rs7957832	0.94[ASN][1000 genomes]
rs7958300	0.94[ASN][1000 genomes]
rs7958770	0.94[ASN][1000 genomes]
rs7960681	0.94[ASN][1000 genomes]
rs7962332	0.81[ASN][1000 genomes]
rs7964751	0.81[ASN][1000 genomes]
rs7965110	0.81[ASN][1000 genomes]
rs7965383	0.81[ASN][1000 genomes]
rs7969400	0.81[ASN][1000 genomes]
rs7969428	0.81[ASN][1000 genomes]
rs7969466	0.81[ASN][1000 genomes]
rs7969614	0.88[ASN][1000 genomes]
rs7970601	0.94[ASN][1000 genomes]
rs7971520	0.94[ASN][1000 genomes]
rs7972882	0.81[ASN][1000 genomes]
rs7978776	0.81[ASN][1000 genomes]
rs7979642	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44894800-44901400	Weak transcription	Brain Germinal Matrix	brain
2	chr12:44894800-44901400	Weak transcription	Fetal Brain Female	brain
3	chr12:44895400-44896600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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