Variant report

Variant	rs992313
Chromosome Location	chr2:77131953-77131954
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10170973	0.92[CEU][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10177731	0.94[CHB][hapmap]
rs10183619	0.81[CEU][hapmap]
rs10187466	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10190510	0.81[CEU][hapmap]
rs10191141	1.00[CHB][hapmap]
rs10192262	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.87[JPT][hapmap];0.90[MEX][hapmap];0.93[TSI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10193309	0.81[CEU][hapmap]
rs10196801	0.81[CEU][hapmap]
rs10196939	0.81[CEU][hapmap]
rs10201530	0.88[TSI][hapmap]
rs10520176	0.94[CHB][hapmap];0.86[JPT][hapmap]
rs11126575	1.00[CEU][hapmap];0.84[CHB][hapmap];0.82[JPT][hapmap]
rs11126576	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11896560	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11896587	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12621674	0.80[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.81[TSI][hapmap];0.80[EUR][1000 genomes]
rs12987907	0.86[TSI][hapmap]
rs13385651	0.88[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap]
rs13385727	0.88[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap]
rs13385839	1.00[CHB][hapmap]
rs13393238	1.00[CHB][hapmap]
rs13416719	0.87[CHB][hapmap]
rs13422716	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.87[JPT][hapmap];0.90[MEX][hapmap];0.95[TSI][hapmap]
rs13423635	0.84[CHB][hapmap]
rs13427514	0.80[CEU][hapmap]
rs1446693	0.84[TSI][hapmap]
rs1446704	0.84[TSI][hapmap]
rs1446710	0.89[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.89[GIH][hapmap];0.87[JPT][hapmap];0.82[MEX][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1446712	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1446724	0.81[CEU][hapmap];0.88[TSI][hapmap]
rs1446725	0.81[CEU][hapmap];0.88[TSI][hapmap]
rs1470503	0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap]
rs1470504	0.81[CEU][hapmap];0.88[TSI][hapmap]
rs1470505	0.81[CEU][hapmap]
rs1470507	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1470508	0.81[CEU][hapmap]
rs1584236	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1584237	0.81[CEU][hapmap]
rs1596913	0.81[CEU][hapmap]
rs17013340	1.00[CHB][hapmap]
rs17013341	0.94[CHB][hapmap]
rs17013455	1.00[CHB][hapmap];0.85[CHD][hapmap]
rs17013592	0.84[TSI][hapmap]
rs17013595	0.84[TSI][hapmap]
rs1929452	1.00[CHB][hapmap]
rs1997468	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap]
rs2028913	0.88[TSI][hapmap]
rs2044485	0.87[JPT][hapmap]
rs2065375	1.00[CHB][hapmap];0.85[CHD][hapmap];0.80[GIH][hapmap]
rs2121410	0.81[CEU][hapmap]
rs2121411	0.81[CEU][hapmap]
rs2178574	1.00[CHB][hapmap]
rs2860872	0.88[CEU][hapmap];0.94[CHB][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap]
rs2860934	0.89[CHB][hapmap]
rs34372910	0.81[EUR][1000 genomes]
rs4143794	0.88[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4143796	0.89[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];0.87[JPT][hapmap];0.88[TSI][hapmap];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4324338	0.80[CEU][hapmap]
rs4853283	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56314043	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6547104	0.96[CEU][hapmap];0.94[CHB][hapmap];0.87[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6547110	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6547117	0.84[TSI][hapmap]
rs6547118	0.84[TSI][hapmap]
rs6719689	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6736181	0.84[CHB][hapmap]
rs6751097	1.00[CHB][hapmap]
rs727000	0.82[MEX][hapmap];0.88[TSI][hapmap]
rs7422204	0.85[CEU][hapmap];0.94[CHB][hapmap];0.96[CHD][hapmap];0.89[GIH][hapmap];0.88[TSI][hapmap]
rs7561361	0.81[EUR][1000 genomes]
rs7563917	0.85[CEU][hapmap];0.94[CHB][hapmap];0.83[CHD][hapmap];0.84[GIH][hapmap];0.93[JPT][hapmap];0.82[MEX][hapmap];0.88[TSI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7586363	0.88[CHB][hapmap]
rs7592470	1.00[CHB][hapmap];0.88[CHD][hapmap];0.80[GIH][hapmap]
rs7592608	1.00[CHB][hapmap]
rs7597923	0.82[MEX][hapmap];0.88[TSI][hapmap]
rs7601256	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs7602571	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9309508	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9309509	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs953854	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874322	chr2:77031247-77209750	Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv2752990	chr2:77038541-77217310	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv874324	chr2:77048896-77201916	Weak transcription Enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv874326	chr2:77055883-77148261	Enhancers Active TSS Weak transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv582251	chr2:77055883-77154515	Enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv874327	chr2:77085752-77209750	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv874328	chr2:77096124-77196122	Enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv874329	chr2:77096124-77209750	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	esv1819739	chr2:77103474-77162163	Enhancers Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv874330	chr2:77103719-77209750	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	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
12	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs992313	MRPL19	cis	cerebellum	SCAN

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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