Variant report

Variant	rs11046450
Chromosome Location	chr12:8783090-8783091
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:6)

rs_ID	r²[population]
rs11046456	1.00[EUR][1000 genomes]
rs12812215	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12817979	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1561555	0.95[EUR][1000 genomes]
rs2377486	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2377487	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044543	chr12:8449100-8792569	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1048336	chr12:8663355-8797018	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 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	chr12:8780600-8783200	Enhancers	GM12878-XiMat	blood
2	chr12:8781000-8783400	Enhancers	HSMMtube	muscle
3	chr12:8781200-8783200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:8781400-8783200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr12:8782600-8787600	Weak transcription	NHEK	skin
6	chr12:8782800-8787800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:8782800-8788000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:8783000-8784200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:8783000-8795000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr12:8783000-8797600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte 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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