Variant report

Variant	rs1596431
Chromosome Location	chr5:89406492-89406493
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10044667	0.86[EUR][1000 genomes]
rs10805864	0.82[EUR][1000 genomes]
rs10942581	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11949266	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11958908	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11958926	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12517492	0.85[CEU][hapmap];0.82[JPT][hapmap];0.84[EUR][1000 genomes]
rs12519494	0.83[EUR][1000 genomes]
rs150133	0.95[ASN][1000 genomes]
rs154193	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs157305	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs157306	0.84[EUR][1000 genomes]
rs157307	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs157308	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs157311	0.84[EUR][1000 genomes]
rs157558	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs157559	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs157560	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs157564	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1645412	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs166820	0.84[EUR][1000 genomes]
rs1698137	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1698138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1698139	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs175965	0.85[CEU][hapmap];0.85[JPT][hapmap];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs176107	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2652732	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs280671	0.85[CEU][hapmap];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs30713	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs60448814	0.85[EUR][1000 genomes]
rs662339	0.85[CEU][hapmap];0.90[CHD][hapmap];0.85[JPT][hapmap];0.84[EUR][1000 genomes]
rs6862722	0.86[EUR][1000 genomes]
rs6871792	0.83[EUR][1000 genomes]
rs690558	0.85[CEU][hapmap];0.82[JPT][hapmap];0.84[EUR][1000 genomes]
rs702845	0.85[CEU][hapmap];0.85[JPT][hapmap];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs818944	0.94[ASW][hapmap];0.92[CEU][hapmap];0.90[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.94[MEX][hapmap];0.83[MKK][hapmap];0.93[TSI][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs818945	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs818946	0.92[CEU][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs818947	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs818948	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs889293	0.92[CEU][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs924627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs924628	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9293534	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021142	chr5:89102893-89897826	Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv537804	chr5:89102893-89897826	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv917025	chr5:89208994-89855436	Enhancers Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:89402000-89407600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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