Variant report

Variant	rs1470504
Chromosome Location	chr2:77222810-77222811
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 129 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:124)

rs_ID	r²[population]
rs10170973	0.90[CHB][hapmap]
rs10183094	0.83[CEU][hapmap]
rs10183619	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10183642	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10186912	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10187466	0.81[CEU][hapmap]
rs10190179	0.84[CEU][hapmap];0.87[EUR][1000 genomes]
rs10190198	0.83[CEU][hapmap];0.87[EUR][1000 genomes]
rs10190443	0.86[EUR][1000 genomes]
rs10190510	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10192262	0.89[GIH][hapmap];0.86[TSI][hapmap];0.81[EUR][1000 genomes]
rs10193309	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10196630	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10196749	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10196758	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10196801	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10196895	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10196939	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10201530	0.81[CEU][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes]
rs11126575	0.81[CEU][hapmap]
rs11126576	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs11896560	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs11896587	0.82[EUR][1000 genomes]
rs12621674	1.00[CEU][hapmap];0.93[TSI][hapmap];0.96[EUR][1000 genomes]
rs12987907	0.93[GIH][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.90[EUR][1000 genomes]
rs12992834	0.91[EUR][1000 genomes]
rs13013784	0.91[EUR][1000 genomes]
rs13422716	0.89[GIH][hapmap];0.88[TSI][hapmap]
rs13427438	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13427514	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1345136	0.83[EUR][1000 genomes]
rs1348827	0.85[TSI][hapmap]
rs1348831	0.84[CEU][hapmap];0.93[EUR][1000 genomes]
rs1374388	0.84[CEU][hapmap];0.87[EUR][1000 genomes]
rs1374389	0.92[EUR][1000 genomes]
rs1374390	0.84[CEU][hapmap];0.92[EUR][1000 genomes]
rs1446693	0.82[GIH][hapmap];0.95[TSI][hapmap];0.81[EUR][1000 genomes]
rs1446695	0.81[EUR][1000 genomes]
rs1446697	0.87[EUR][1000 genomes]
rs1446698	0.83[CEU][hapmap];0.88[EUR][1000 genomes]
rs1446701	0.84[CEU][hapmap];0.91[EUR][1000 genomes]
rs1446702	0.92[EUR][1000 genomes]
rs1446703	0.84[CEU][hapmap];0.91[EUR][1000 genomes]
rs1446704	0.84[CEU][hapmap];0.91[GIH][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs1446705	0.91[EUR][1000 genomes]
rs1446707	0.84[CEU][hapmap];0.93[EUR][1000 genomes]
rs1446710	0.92[CEU][hapmap];0.91[GIH][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs1446712	0.92[EUR][1000 genomes]
rs1446722	0.95[CEU][hapmap];1.00[YRI][hapmap]
rs1446724	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.96[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs1446725	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs1470503	0.84[CEU][hapmap]
rs1470505	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1470506	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1470507	0.97[EUR][1000 genomes]
rs1470508	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1584235	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1584236	0.97[EUR][1000 genomes]
rs1584237	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1596913	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs17013296	1.00[CHB][hapmap];0.81[CHD][hapmap]
rs17013592	0.84[CEU][hapmap];0.91[GIH][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs17013595	0.84[CEU][hapmap];0.89[GIH][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.92[EUR][1000 genomes]
rs1838880	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1838881	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1921627	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs2028913	0.81[CEU][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs2121409	0.87[EUR][1000 genomes]
rs2121410	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2121411	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2197603	0.84[CEU][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2860937	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2860938	0.93[EUR][1000 genomes]
rs2901812	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34372910	0.92[EUR][1000 genomes]
rs34632326	0.93[EUR][1000 genomes]
rs35038238	0.91[EUR][1000 genomes]
rs35659577	0.91[EUR][1000 genomes]
rs4143794	0.92[CEU][hapmap];0.92[EUR][1000 genomes]
rs4143796	0.92[CEU][hapmap];0.91[GIH][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs4324338	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4853283	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs4853286	0.94[EUR][1000 genomes]
rs4853287	0.93[EUR][1000 genomes]
rs4853288	0.93[EUR][1000 genomes]
rs4853289	0.93[EUR][1000 genomes]
rs4853291	0.87[EUR][1000 genomes]
rs55985303	0.83[ASN][1000 genomes]
rs56314043	0.97[EUR][1000 genomes]
rs62171962	0.83[ASN][1000 genomes]
rs6547104	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs6547110	0.95[EUR][1000 genomes]
rs6547114	0.84[CEU][hapmap];0.93[EUR][1000 genomes]
rs6547115	0.82[CEU][hapmap];0.87[EUR][1000 genomes]
rs6547116	0.86[EUR][1000 genomes]
rs6547117	0.81[CEU][hapmap];0.89[GIH][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes]
rs6547118	0.84[CEU][hapmap];0.89[GIH][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes]
rs6718391	0.94[EUR][1000 genomes]
rs6718440	0.84[EUR][1000 genomes]
rs6719689	0.81[CEU][hapmap]
rs6732462	0.84[CEU][hapmap];0.84[GIH][hapmap];0.90[TSI][hapmap];0.86[EUR][1000 genomes]
rs6739222	0.84[CEU][hapmap];0.86[JPT][hapmap];0.95[EUR][1000 genomes]
rs6743454	0.94[EUR][1000 genomes]
rs6750897	0.86[CHB][hapmap]
rs727000	0.84[CEU][hapmap];0.86[GIH][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs7422204	0.86[GIH][hapmap];0.81[TSI][hapmap]
rs7558600	0.86[CHB][hapmap]
rs7561361	0.92[EUR][1000 genomes]
rs7563917	0.96[CEU][hapmap];0.95[GIH][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs7569624	0.87[EUR][1000 genomes]
rs7573982	0.84[CEU][hapmap]
rs7580390	0.86[CHB][hapmap]
rs7591186	0.91[EUR][1000 genomes]
rs7597923	0.84[CEU][hapmap];0.81[GIH][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs7601256	0.84[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes]
rs7604637	0.86[CHB][hapmap]
rs7604936	0.91[EUR][1000 genomes]
rs7605187	0.91[EUR][1000 genomes]
rs7607019	0.85[CHB][hapmap]
rs765572	0.81[CEU][hapmap];0.85[EUR][1000 genomes]
rs9309508	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs9309509	0.81[EUR][1000 genomes]
rs985750	1.00[CHB][hapmap]
rs992313	0.81[CEU][hapmap];0.88[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv519950	chr2:77213103-77256291	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv829468	chr2:77216448-77224533	Weak transcription Enhancers	lncRNA	n/a	inside rSNPs	diseases
5	nsv961764	chr2:77216571-77228053	Enhancers Weak transcription	lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1470504	MRPL19	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:77222800-77224400	Enhancers	Pancreatic Islets	Pancreatic Islet

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