Variant report

Variant	rs10194754
Chromosome Location	chr2:50641039-50641040
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10182151	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10865246	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11125304	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12472592	0.92[EUR][1000 genomes]
rs1402127	0.85[ASN][1000 genomes]
rs1520435	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2139628	0.90[EUR][1000 genomes]
rs2160444	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2351518	0.83[ASN][1000 genomes]
rs2351519	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35125023	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4031833	0.88[EUR][1000 genomes]
rs4971673	0.85[ASN][1000 genomes]
rs4971675	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6545169	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6545170	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6721052	0.90[EUR][1000 genomes]
rs6736016	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6739297	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7607203	0.92[EUR][1000 genomes]
rs9678669	0.85[ASN][1000 genomes]
rs9917332	0.89[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	nsv492164	chr2:50399251-51029090	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1000653	chr2:50417660-51083470	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv535693	chr2:50417660-51083470	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv948548	chr2:50569117-50695100	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv948361	chr2:50611076-50785178	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv933786	chr2:50628354-50780185	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50640200-50641200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:50640400-50641400	Enhancers	Brain Angular Gyrus	brain

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