Variant report

Variant	rs12578962
Chromosome Location	chr12:68389609-68389610
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11176996	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs12582257	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4913375	0.84[AMR][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	esv3411149	chr12:68066948-68435533	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1039638	chr12:68293351-68399871	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv975509	chr12:68382193-68405026	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr12:68385600-68391000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr12:68385600-68392000	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr12:68386200-68391800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr12:68386400-68404200	Weak transcription	Primary B cells from cord blood	blood
5	chr12:68386600-68391800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:68386800-68404600	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr12:68387000-68392200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr12:68387000-68395000	Weak transcription	Primary B cells from peripheral blood	blood
9	chr12:68388600-68392000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:68389600-68390400	Enhancers	Adipose Derived Mesenchymal Stem Cell 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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