Variant report

Variant	rs383227
Chromosome Location	chr12:45324215-45324216
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs374038	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs375660	1.00[AMR][1000 genomes]
rs376052	1.00[AMR][1000 genomes]
rs376283	1.00[AMR][1000 genomes]
rs377352	1.00[AMR][1000 genomes]
rs381841	1.00[AMR][1000 genomes]
rs385584	1.00[AMR][1000 genomes]
rs389144	1.00[AMR][1000 genomes]
rs392849	1.00[AMR][1000 genomes]
rs399567	1.00[AMR][1000 genomes]
rs402960	1.00[AMR][1000 genomes]
rs411486	1.00[AMR][1000 genomes]
rs436453	1.00[AMR][1000 genomes]
rs445380	1.00[AMR][1000 genomes]
rs447309	1.00[AMR][1000 genomes]
rs447351	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	nsv977156	chr12:45320347-45324286	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45322600-45325000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:45323600-45325000	Enhancers	Fetal Brain Male	brain
3	chr12:45324200-45324600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr12:45324200-45325000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:45324200-45325000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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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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