Variant report

Variant	rs35278372
Chromosome Location	chr5:44785375-44785376
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10512866	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11951477	0.91[EUR][1000 genomes]
rs11957933	0.91[EUR][1000 genomes]
rs13153376	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13153426	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13162944	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13163070	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13165641	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13165992	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13166622	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13167135	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13167593	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13167624	0.88[AFR][1000 genomes]
rs13172191	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13173899	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13180428	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13183825	0.91[EUR][1000 genomes]
rs13184849	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13185697	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13187122	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13187187	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13188873	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13188895	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16901939	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16901954	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16901958	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16901986	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16901987	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2330571	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34094652	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34098474	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34133773	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34172556	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34216230	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34282174	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34544432	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34918593	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34942360	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35241613	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35472604	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35534193	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35564441	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35842403	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35850760	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35868527	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36163058	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4398644	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57288883	0.91[EUR][1000 genomes]
rs58871041	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59337658	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60303396	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60772043	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61695869	1.00[ASN][1000 genomes]
rs6451785	0.91[EUR][1000 genomes]
rs6860030	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6869608	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6870104	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6870510	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6876888	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6877331	0.91[EUR][1000 genomes]
rs6877454	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6881573	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6882983	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6891637	0.91[EUR][1000 genomes]
rs6893211	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71590654	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73752417	1.00[ASN][1000 genomes]
rs73752418	1.00[ASN][1000 genomes]
rs7704815	0.91[EUR][1000 genomes]
rs7710153	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7726555	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7735466	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7736197	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880457	chr5:44632008-44800665	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv830279	chr5:44688175-44860815	Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
3	nsv1027897	chr5:44695278-45061623	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
4	nsv597933	chr5:44740989-44810740	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	n/a
5	nsv880712	chr5:44777878-44842260	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
6	nsv881564	chr5:44783255-44914579	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:44781000-44790600	Weak transcription	Psoas Muscle	Psoas
2	chr5:44781000-44793200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr5:44781400-44788200	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr5:44782600-44785800	Strong transcription	Hela-S3	cervix
5	chr5:44784600-44792200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:44784800-44787200	Weak transcription	Left Ventricle	heart

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