Variant report

Variant	rs11830993
Chromosome Location	chr12:21476162-21476163
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11829484	0.85[AMR][1000 genomes]
rs11830367	0.83[AMR][1000 genomes]
rs11830939	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11830971	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11831262	0.83[AMR][1000 genomes]
rs11832394	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11833627	1.00[AMR][1000 genomes]
rs16923608	0.85[AMR][1000 genomes]
rs2199683	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2199688	0.85[AMR][1000 genomes]
rs57503786	0.85[AMR][1000 genomes]
rs60462043	0.95[AFR][1000 genomes]
rs61552073	1.00[AMR][1000 genomes]
rs7312628	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73237241	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73248969	1.00[AMR][1000 genomes]
rs73250847	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7486475	1.00[AMR][1000 genomes]
rs7977483	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv557735	chr12:21443282-21538957	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:21473800-21477800	Active TSS	Brain Angular Gyrus	brain
2	chr12:21473800-21477800	Active TSS	Brain Cingulate Gyrus	brain
3	chr12:21473800-21478200	Active TSS	Brain Anterior Caudate	brain
4	chr12:21474600-21477800	Active TSS	Brain Hippocampus Middle	brain
5	chr12:21474800-21478000	Active TSS	Brain Substantia Nigra	brain
6	chr12:21475400-21478000	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr12:21475600-21477400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr12:21475800-21476600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr12:21476000-21476200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr12:21476000-21476400	Weak transcription	HUES64 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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