Variant report

Variant	rs11182519
Chromosome Location	chr12:44900428-44900429
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11182551	1.00[AMR][1000 genomes]
rs12305007	1.00[AMR][1000 genomes]
rs28413508	1.00[AMR][1000 genomes]
rs57686015	1.00[AMR][1000 genomes]
rs7137523	1.00[AMR][1000 genomes]
rs7309637	0.95[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	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44894800-44901400	Weak transcription	Brain Germinal Matrix	brain
2	chr12:44894800-44901400	Weak transcription	Fetal Brain Female	brain
3	chr12:44898600-44904800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr12:44899400-44900600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr12:44900000-44901600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:44900200-44912600	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr12:44900200-44915400	Weak transcription	Primary T helper cells PMA-I stimulated	--

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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