Variant report

Variant	rs7592470
Chromosome Location	chr2:77143070-77143071
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10165732	0.81[CEU][hapmap]
rs10177731	0.94[CHB][hapmap];0.90[JPT][hapmap]
rs10184480	0.87[YRI][hapmap]
rs10187466	1.00[CHB][hapmap]
rs10189408	0.81[CEU][hapmap]
rs10189940	0.80[LWK][hapmap];0.86[MKK][hapmap]
rs10191141	0.91[CEU][hapmap];1.00[CHB][hapmap];0.81[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap]
rs10192262	1.00[CHB][hapmap];0.88[CHD][hapmap]
rs10520168	0.80[MEX][hapmap]
rs10520176	0.94[CHB][hapmap]
rs11126573	0.82[CEU][hapmap]
rs11126575	0.84[CHB][hapmap]
rs11126576	1.00[CHB][hapmap]
rs11896560	0.94[CHB][hapmap]
rs12621674	1.00[CHB][hapmap]
rs13385651	1.00[CHB][hapmap]
rs13385727	1.00[CHB][hapmap]
rs13385839	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13393238	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13416719	1.00[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];0.88[YRI][hapmap]
rs13422716	1.00[CHB][hapmap];0.88[CHD][hapmap]
rs13423635	0.83[ASW][hapmap];1.00[CEU][hapmap];0.84[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap];0.88[MEX][hapmap];0.88[MKK][hapmap];0.97[TSI][hapmap];0.89[YRI][hapmap]
rs1400847	0.82[CEU][hapmap]
rs1446710	1.00[CHB][hapmap];0.84[CHD][hapmap]
rs1470503	1.00[CHB][hapmap]
rs17013296	1.00[CEU][hapmap];0.95[GIH][hapmap];0.97[TSI][hapmap]
rs17013338	0.82[JPT][hapmap]
rs17013340	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17013341	0.94[CHB][hapmap];0.95[JPT][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17013455	0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];0.86[JPT][hapmap];0.93[TSI][hapmap]
rs1829289	0.82[CEU][hapmap]
rs1921627	0.91[CEU][hapmap];0.85[GIH][hapmap];0.93[TSI][hapmap];0.85[EUR][1000 genomes]
rs1921628	0.85[EUR][1000 genomes]
rs1929448	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1929452	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1997468	1.00[CHB][hapmap]
rs2065375	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap]
rs2178574	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2860872	0.94[CHB][hapmap]
rs2860934	0.89[CHB][hapmap]
rs4143794	1.00[CHB][hapmap]
rs4143796	1.00[CHB][hapmap];0.84[CHD][hapmap]
rs4331533	0.82[CEU][hapmap];0.92[MEX][hapmap]
rs4340548	0.82[CEU][hapmap]
rs4853283	1.00[CHB][hapmap]
rs60439095	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62170284	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62170343	0.86[EUR][1000 genomes]
rs6547104	0.94[CHB][hapmap]
rs6719689	1.00[CHB][hapmap]
rs6736181	0.83[ASW][hapmap];1.00[CEU][hapmap];0.84[CHB][hapmap];0.86[CHD][hapmap];0.86[JPT][hapmap];0.89[LWK][hapmap];0.92[MEX][hapmap];0.96[MKK][hapmap];0.97[TSI][hapmap];0.85[YRI][hapmap]
rs6740369	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6750897	0.82[CEU][hapmap];0.83[GIH][hapmap];0.92[MEX][hapmap]
rs6751097	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs721390	0.91[CEU][hapmap];0.84[MEX][hapmap]
rs7422204	0.94[CHB][hapmap];0.84[CHD][hapmap]
rs7558600	0.91[CEU][hapmap];0.85[GIH][hapmap];0.92[MEX][hapmap]
rs7563917	0.94[CHB][hapmap]
rs7580390	0.82[CEU][hapmap];0.83[GIH][hapmap];0.92[MEX][hapmap]
rs7586363	0.88[CHB][hapmap]
rs7592608	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7604637	0.95[CEU][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes]
rs7607019	0.83[GIH][hapmap];0.87[MEX][hapmap]
rs9309508	1.00[CHB][hapmap]
rs9309509	1.00[CHB][hapmap]
rs953854	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs985234	0.86[CEU][hapmap];0.87[EUR][1000 genomes]
rs992313	1.00[CHB][hapmap];0.88[CHD][hapmap];0.80[GIH][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
rs7592470	C2orf3	cis	parietal	SCAN

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

No data

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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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