Variant report

Variant	rs7371822
Chromosome Location	chr3:23205188-23205189
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs60118170	0.83[AFR][1000 genomes]
rs6764305	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6764319	0.94[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs6805790	0.90[EUR][1000 genomes]
rs6805794	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6809518	0.95[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7372759	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7373209	0.96[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs7373439	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7374735	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7615823	0.81[JPT][hapmap]
rs9310712	0.96[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs9310713	0.96[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs9812056	0.81[AFR][1000 genomes]
rs9827762	0.83[AFR][1000 genomes]
rs9831806	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9855620	0.95[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs9867201	0.96[AFR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999882	chr3:23121533-23257718	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv834636	chr3:23138653-23301443	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7371822	KCNH8	cis	cerebellum	SCAN
rs7371822	NR1D2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23202000-23206600	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr3:23203400-23205200	Enhancers	Primary B cells from peripheral blood	blood
3	chr3:23204800-23205400	Enhancers	GM12878-XiMat	blood

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Input of quick search could be:

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

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