Variant report

Variant	rs1450539
Chromosome Location	chr12:45057316-45057317
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11182576	1.00[EUR][1000 genomes]
rs11831081	1.00[EUR][1000 genomes]
rs1452263	1.00[EUR][1000 genomes]
rs1811512	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57108764	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
2	esv3378050	chr12:44963059-45264289	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv430506	chr12:45003342-45072343	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45031600-45059200	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr12:45044400-45062800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr12:45049400-45069000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:45050400-45061200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr12:45050800-45060000	Weak transcription	Fetal Brain Female	brain
6	chr12:45051800-45081200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr12:45055200-45060600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:45055200-45061600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr12:45055600-45062400	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr12:45056200-45057800	Enhancers	Fetal Brain Male	brain
11	chr12:45056600-45059600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:45056600-45083800	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr12:45056800-45057400	Enhancers	Fetal Lung	lung

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

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