Variant report

Variant	rs1376999
Chromosome Location	chr12:44987067-44987068
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:18)

rs_ID	r²[population]
rs10732765	0.94[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10748398	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs10785504	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1376994	0.94[CEU][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1376996	0.94[CEU][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1947351	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs2407951	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2408002	0.94[CEU][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4600279	0.82[EUR][1000 genomes]
rs4768065	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4768558	0.94[CEU][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4768559	0.94[CEU][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7134690	0.94[CEU][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7299371	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7299685	0.94[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7301710	0.94[CEU][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7311478	1.00[CEU][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7975796	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[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	esv2762976	chr12:44969431-45000228	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44940200-44999600	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr12:44943400-44998600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr12:44966800-45000600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr12:44977400-44988600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:44977400-44995200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:44977400-44998800	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr12:44983800-44992000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr12:44986600-44987200	Enhancers	Fetal Brain Male	brain
9	chr12:44986600-45006600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr12:44986800-45015800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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

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