Variant report

Variant	rs1376996
Chromosome Location	chr12:44945509-44945510
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10732765	0.88[CEU][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10748398	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10785504	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1376994	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1376999	0.94[CEU][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1947351	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2407951	0.84[EUR][1000 genomes]
rs2408002	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4600279	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4768065	0.94[CEU][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4768558	1.00[CEU][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4768559	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7134690	1.00[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7299371	0.94[CEU][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7299685	0.88[CEU][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7301710	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7311478	0.94[CEU][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7975796	0.95[AMR][1000 genomes];0.98[EUR][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	chr12:44918600-44972000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:44937600-44947600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:44940200-44999600	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr12:44942000-44949000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr12:44943400-44998600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr12:44944000-44948400	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr12:44944800-44947800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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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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