Variant report

Variant	rs12280780
Chromosome Location	chr11:108689117-108689118
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12279766	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12291564	1.00[AMR][1000 genomes]
rs73556751	1.00[AMR][1000 genomes]
rs73556772	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73556800	1.00[AMR][1000 genomes]
rs73558631	1.00[AMR][1000 genomes]
rs73558672	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv898386	chr11:108409442-108831875	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv898388	chr11:108440814-108724639	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108664200-108691000	Weak transcription	K562	blood
2	chr11:108675000-108689600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr11:108675600-108694800	Weak transcription	Ovary	ovary
4	chr11:108675600-108709400	Weak transcription	Left Ventricle	heart
5	chr11:108675800-108700000	Weak transcription	GM12878-XiMat	blood
6	chr11:108676000-108708000	Weak transcription	Primary B cells from cord blood	blood
7	chr11:108677600-108709600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr11:108680400-108709400	Weak transcription	Primary T cells from cord blood	blood
9	chr11:108680600-108724400	Weak transcription	Aorta	Aorta
10	chr11:108686200-108689600	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr11:108687000-108717000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr11:108688600-108689200	Enhancers	HepG2	liver
13	chr11:108688600-108689800	Enhancers	Fetal Heart	heart

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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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