Variant report

Variant	rs385584
Chromosome Location	chr12:45342917-45342918
allele	C/T
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:18)

rs_ID	r²[population]
rs11182855	1.00[EUR][1000 genomes]
rs369442	0.84[AFR][1000 genomes]
rs374038	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs375660	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs376052	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs376283	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs377352	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs381841	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs383227	1.00[AMR][1000 genomes]
rs389144	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs392849	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs399567	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs402960	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs411486	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs436453	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs445380	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs447309	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs447351	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899049	chr12:45299202-45376053	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv899050	chr12:45299202-45400614	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv899051	chr12:45307633-45376053	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv527565	chr12:45319767-45365812	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv3407092	chr12:45342734-45368068	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS	Chromatin interactive region	3 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	chr12:45342600-45344400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr12:45342600-45344400	Weak transcription	K562	blood
3	chr12:45342800-45344600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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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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