Variant report

Variant	rs1446693
Chromosome Location	chr2:77262967-77262968
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 104 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10172719	0.95[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap]
rs10183094	0.86[CEU][hapmap]
rs10183619	0.81[EUR][1000 genomes]
rs10183642	0.81[EUR][1000 genomes]
rs10186912	0.81[EUR][1000 genomes]
rs10190179	0.88[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10190198	0.86[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10190443	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10192262	0.81[TSI][hapmap]
rs10196630	0.81[EUR][1000 genomes]
rs10196758	0.80[EUR][1000 genomes]
rs10196801	0.81[EUR][1000 genomes]
rs10196895	0.81[EUR][1000 genomes]
rs10196939	0.81[EUR][1000 genomes]
rs10199256	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap]
rs10201530	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.89[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12621674	0.97[TSI][hapmap];0.83[EUR][1000 genomes]
rs12987907	0.89[GIH][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs12992834	0.88[EUR][1000 genomes]
rs13013784	0.88[EUR][1000 genomes]
rs13422716	0.84[TSI][hapmap]
rs13427438	0.81[EUR][1000 genomes]
rs13427514	0.81[EUR][1000 genomes]
rs1345136	0.83[CHB][hapmap];0.81[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1348824	0.83[EUR][1000 genomes]
rs1348826	0.83[CEU][hapmap]
rs1348827	0.83[CEU][hapmap];0.84[GIH][hapmap];0.86[MEX][hapmap];0.80[TSI][hapmap];0.86[EUR][1000 genomes]
rs1348831	0.88[CEU][hapmap];0.90[CHB][hapmap];0.86[EUR][1000 genomes]
rs1374388	0.87[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1374389	0.88[EUR][1000 genomes]
rs1374390	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs1446692	0.86[EUR][1000 genomes]
rs1446695	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1446697	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1446698	0.86[CEU][hapmap];0.94[CHB][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1446701	0.88[CEU][hapmap];0.90[CHB][hapmap];0.83[JPT][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1446702	0.87[EUR][1000 genomes]
rs1446703	0.88[CEU][hapmap];0.85[CHB][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1446704	0.88[CEU][hapmap];0.86[GIH][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs1446705	0.85[CHB][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1446707	0.88[CEU][hapmap];0.90[CHB][hapmap];0.86[EUR][1000 genomes]
rs1446710	0.82[GIH][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.81[EUR][1000 genomes]
rs1446712	0.82[EUR][1000 genomes]
rs1446724	0.82[GIH][hapmap];0.95[TSI][hapmap]
rs1446725	0.82[GIH][hapmap];0.95[TSI][hapmap]
rs1470504	0.82[GIH][hapmap];0.95[TSI][hapmap];0.81[EUR][1000 genomes]
rs1470505	0.81[EUR][1000 genomes]
rs1470506	0.81[EUR][1000 genomes]
rs1470507	0.82[EUR][1000 genomes]
rs1470508	0.81[EUR][1000 genomes]
rs1542186	0.96[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap]
rs1584234	0.83[CEU][hapmap]
rs1584235	0.81[EUR][1000 genomes]
rs1584236	0.82[EUR][1000 genomes]
rs1584237	0.81[EUR][1000 genomes]
rs17013592	0.88[CEU][hapmap];0.86[GIH][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs17013595	0.88[CEU][hapmap];0.84[GIH][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs1838880	0.81[EUR][1000 genomes]
rs1838881	0.81[EUR][1000 genomes]
rs2028913	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.89[JPT][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2121409	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2121410	0.81[EUR][1000 genomes]
rs2121411	0.81[EUR][1000 genomes]
rs2197603	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs2860937	0.81[EUR][1000 genomes]
rs2860938	0.86[EUR][1000 genomes]
rs34372910	0.87[EUR][1000 genomes]
rs34632326	0.86[EUR][1000 genomes]
rs35038238	0.88[EUR][1000 genomes]
rs35659577	0.88[EUR][1000 genomes]
rs4143794	0.82[EUR][1000 genomes]
rs4143796	0.82[GIH][hapmap];0.82[MEX][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes]
rs4853286	0.86[EUR][1000 genomes]
rs4853287	0.87[EUR][1000 genomes]
rs4853288	0.87[EUR][1000 genomes]
rs4853289	0.87[EUR][1000 genomes]
rs4853291	0.95[CHB][hapmap];0.84[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56314043	0.82[EUR][1000 genomes]
rs6547110	0.84[EUR][1000 genomes]
rs6547114	0.88[CEU][hapmap];0.90[CHB][hapmap];0.86[EUR][1000 genomes]
rs6547115	0.85[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6547116	0.89[EUR][1000 genomes]
rs6547117	0.92[CEU][hapmap];0.89[GIH][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs6547118	0.88[CEU][hapmap];0.89[GIH][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs6708058	0.82[EUR][1000 genomes]
rs6718391	0.86[EUR][1000 genomes]
rs6718440	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6732462	0.88[CEU][hapmap];0.90[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];0.89[JPT][hapmap];0.90[TSI][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6739222	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs6743454	0.86[EUR][1000 genomes]
rs727000	0.88[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.83[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7561361	0.87[EUR][1000 genomes]
rs7563917	0.86[GIH][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.84[EUR][1000 genomes]
rs7569624	0.90[EUR][1000 genomes]
rs7573982	0.87[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap]
rs7591186	0.88[EUR][1000 genomes]
rs7597923	0.88[CEU][hapmap];0.90[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];0.83[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7604936	0.88[EUR][1000 genomes]
rs7605187	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs765572	0.92[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs992313	0.84[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834266	chr2:77120236-77287504	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv949670	chr2:77125218-77712607	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv997284	chr2:77233426-77303198	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1446693	MRPL19	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77261600-77263000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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