Variant report

Variant	rs12311976
Chromosome Location	chr12:40360644-40360645
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]
rs12315857	0.84[YRI][hapmap]
rs12317006	0.84[YRI][hapmap];1.00[AFR][1000 genomes]
rs12317250	0.84[YRI][hapmap];0.93[AFR][1000 genomes]
rs12318369	0.84[YRI][hapmap];0.93[AFR][1000 genomes]
rs7302067	0.93[AFR][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	nsv1046428	chr12:40226283-40439843	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv541481	chr12:40226283-40439843	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv1052202	chr12:40322607-40406760	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region miRNA target site	4 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	chr12:40338000-40366000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:40347800-40369800	Weak transcription	Pancreas	Pancrea
3	chr12:40348200-40361400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:40360000-40360800	Enhancers	Liver	Liver
5	chr12:40360200-40360800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:40360400-40361200	Enhancers	Fetal Kidney	kidney
7	chr12:40360400-40361200	Enhancers	NHDF-Ad	bronchial

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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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