Variant report

Variant	rs12621647
Chromosome Location	chr2:145734946-145734947
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10496971	0.86[AMR][1000 genomes]
rs11679718	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11689317	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13001583	0.86[AMR][1000 genomes]
rs13004410	0.88[AMR][1000 genomes]
rs13009916	0.86[AMR][1000 genomes]
rs13010262	0.86[AMR][1000 genomes]
rs13010313	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1371047	0.85[AMR][1000 genomes]
rs1438897	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs16824386	0.86[AMR][1000 genomes]
rs1898732	0.88[AMR][1000 genomes]
rs34948552	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34985138	0.88[AMR][1000 genomes]
rs35844147	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4662406	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56014517	0.80[AMR][1000 genomes]
rs56795645	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs67969609	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv932113	chr2:145515124-145844491	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv834398	chr2:145659419-145830156	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145732200-145735000	Enhancers	Brain Cingulate Gyrus	brain
2	chr2:145732600-145735000	Enhancers	Brain Angular Gyrus	brain
3	chr2:145733600-145735000	Enhancers	Brain Hippocampus Middle	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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