Variant report

Variant	rs62175444
Chromosome Location	chr2:179938718-179938719
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10497530	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10497531	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10497532	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11883598	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11883599	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11883748	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11885227	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11885400	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11885450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11886627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11887988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11888041	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11890988	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11891599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11891608	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11891654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11892227	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11893153	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11893315	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11895391	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11896002	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11896686	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11897059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11898663	0.86[AFR][1000 genomes]
rs11899563	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11901386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11901918	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11902355	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11903793	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12467652	0.88[EUR][1000 genomes]
rs12474600	0.85[EUR][1000 genomes]
rs16866624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17362972	0.85[EUR][1000 genomes]
rs17363006	0.89[EUR][1000 genomes]
rs17363057	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1875779	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1875782	0.85[EUR][1000 genomes]
rs34190485	0.92[EUR][1000 genomes]
rs35465824	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35888089	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35901501	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35979436	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36098953	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4435492	0.85[EUR][1000 genomes]
rs4893864	0.84[EUR][1000 genomes]
rs4991006	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61397643	0.88[EUR][1000 genomes]
rs62175366	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62175367	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62175401	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62175402	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62175403	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62175411	1.00[EUR][1000 genomes]
rs62175413	0.86[ASN][1000 genomes]
rs62175419	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62175420	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62175421	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62175422	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62175990	0.85[EUR][1000 genomes]
rs62175993	0.85[EUR][1000 genomes]
rs62175994	0.85[EUR][1000 genomes]
rs62175995	0.85[EUR][1000 genomes]
rs62176021	0.85[EUR][1000 genomes]
rs62176023	0.89[EUR][1000 genomes]
rs62176024	0.89[EUR][1000 genomes]
rs62176026	0.89[EUR][1000 genomes]
rs62176027	0.89[EUR][1000 genomes]
rs62176028	0.89[EUR][1000 genomes]
rs6433747	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433748	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433749	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433750	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433751	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433752	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6709090	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6716599	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6716713	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6716728	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6731564	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6731566	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6734597	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7574853	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7575047	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7578521	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7578961	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7579263	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7582862	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7588765	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7596842	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7601179	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7605060	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7609150	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv875457	chr2:179775893-179966804	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv875458	chr2:179780624-179966804	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv875464	chr2:179843612-179939493	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv875465	chr2:179843612-179966804	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv508184	chr2:179896384-179965419	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1004693	chr2:179933683-180265288	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv1003301	chr2:179934190-179963263	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179934800-179942800	Weak transcription	Left Ventricle	heart
2	chr2:179937200-179947600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:179937800-179938800	ZNF genes & repeats	Dnd41	blood

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