Variant report

Variant	rs1196058
Chromosome Location	chr2:183012930-183012931
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10180233	0.91[CEU][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.83[EUR][1000 genomes]
rs10181526	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10184548	0.84[CEU][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs10186868	0.87[CEU][hapmap]
rs10193166	0.87[CEU][hapmap];0.92[JPT][hapmap];0.81[EUR][1000 genomes]
rs10206325	0.87[CEU][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10930992	0.86[EUR][1000 genomes]
rs11674335	0.86[EUR][1000 genomes]
rs11886669	0.80[EUR][1000 genomes]
rs11893572	0.83[CEU][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap]
rs11895090	0.87[CEU][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.81[EUR][1000 genomes]
rs1196057	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1196059	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1196062	0.91[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1196065	1.00[CEU][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1196066	0.91[ASW][hapmap];1.00[CEU][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1196067	0.92[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1196072	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1196074	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1210652	0.91[ASW][hapmap];1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12467526	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12477627	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12477696	0.87[EUR][1000 genomes]
rs12612546	0.82[ASW][hapmap];0.91[CEU][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12617563	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12693299	0.83[EUR][1000 genomes]
rs12693300	0.81[EUR][1000 genomes]
rs12693301	0.83[CEU][hapmap]
rs13016087	0.90[EUR][1000 genomes]
rs1344772	0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1347081	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1368217	0.87[CEU][hapmap];0.84[EUR][1000 genomes]
rs1368218	0.87[CEU][hapmap];0.85[EUR][1000 genomes]
rs1368220	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1368221	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1432522	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1432528	0.87[CEU][hapmap];0.84[EUR][1000 genomes]
rs1432529	0.85[EUR][1000 genomes]
rs1432530	0.86[EUR][1000 genomes]
rs1432531	0.83[ASW][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1432534	0.91[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1438068	0.83[CEU][hapmap]
rs1594618	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1864855	0.91[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1897472	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1946602	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1991765	0.91[ASW][hapmap];0.91[CEU][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1999	0.83[ASW][hapmap];0.92[CHB][hapmap];0.87[CHD][hapmap];0.85[GIH][hapmap];0.84[JPT][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2217616	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2368254	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2368256	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2368279	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3769788	0.91[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3769791	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769801	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4666577	0.90[ASN][1000 genomes]
rs4666578	0.87[CEU][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4666579	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4666820	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6433959	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6433960	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6706326	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6714277	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6717783	0.83[EUR][1000 genomes]
rs6728985	0.87[CEU][hapmap];0.92[JPT][hapmap];0.85[EUR][1000 genomes]
rs6733935	0.80[AMR][1000 genomes]
rs6734868	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6749969	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6758334	1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs7580614	0.87[EUR][1000 genomes]
rs7580716	0.90[ASN][1000 genomes]
rs7592780	0.86[CEU][hapmap];0.83[CHB][hapmap];0.90[JPT][hapmap];0.85[EUR][1000 genomes]
rs7597711	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[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	nsv875477	chr2:182938377-183086478	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	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
rs1196058	CNNM2	trans	parietal	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182998600-183024000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:182999200-183016000	Weak transcription	Gastric	stomach
3	chr2:183002400-183013000	Weak transcription	Left Ventricle	heart
4	chr2:183009400-183018200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:183009600-183013200	Weak transcription	Osteobl	bone
6	chr2:183009800-183013000	Weak transcription	Aorta	Aorta
7	chr2:183009800-183013000	Weak transcription	Pancreas	Pancrea
8	chr2:183009800-183013000	Weak transcription	Right Atrium	heart
9	chr2:183010000-183013000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:183010000-183013000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr2:183010000-183013000	Weak transcription	Hela-S3	cervix
12	chr2:183010000-183013000	Weak transcription	HSMM	muscle
13	chr2:183010000-183013000	Weak transcription	HSMMtube	muscle
14	chr2:183010000-183013000	Weak transcription	NH-A	brain
15	chr2:183010000-183013200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:183010600-183013000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:183012800-183013600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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