Variant report

Variant	rs72949518
Chromosome Location	chr1:80797008-80797009
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10874123	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10874124	0.88[EUR][1000 genomes]
rs12057358	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12067796	0.82[AMR][1000 genomes]
rs12069728	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12073845	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12074207	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12075452	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12075726	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12076974	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12077472	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12083515	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12084568	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12087638	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12087646	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12087722	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12088070	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12088284	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12088287	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1365753	0.80[AMR][1000 genomes]
rs17488710	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17488724	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1937787	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1937796	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2389015	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2389016	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2389017	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28813117	0.82[AMR][1000 genomes]
rs35020936	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3856038	0.80[EUR][1000 genomes]
rs4514202	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59355246	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs66579741	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66607038	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6670504	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6670706	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs66988543	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67148358	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67451257	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67981315	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72673699	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7549987	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7555345	0.88[AMR][1000 genomes];1.00[EUR][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	nsv1012286	chr1:80057078-81005153	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv535018	chr1:80057078-81005153	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1000792	chr1:80076146-81015283	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv546661	chr1:80656114-81156849	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1011060	chr1:80745999-80972049	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv871859	chr1:80752283-80908148	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1014302	chr1:80755143-80803574	Enhancers Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv3402754	chr1:80794464-80798962	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:80796800-80804600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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