Variant report

Variant	rs2293838
Chromosome Location	chr14:80308080-80308081
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12894497	0.89[ASN][1000 genomes]
rs2067730	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2293833	0.91[EUR][1000 genomes]
rs2293835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2293836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7147960	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7148119	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8003197	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1045241	chr14:79885361-80734201	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv902113	chr14:80172094-80929699	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80303200-80308400	Weak transcription	NH-A	brain
2	chr14:80303400-80308200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr14:80303400-80308400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr14:80303400-80308400	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr14:80303400-80308400	Weak transcription	Osteobl	bone
6	chr14:80306800-80308400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr14:80307000-80308400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr14:80307200-80308600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr14:80307600-80309000	Enhancers	Brain Substantia Nigra	brain
10	chr14:80307800-80308200	Enhancers	Fetal Kidney	kidney
11	chr14:80307800-80308600	Enhancers	Right Atrium	heart
12	chr14:80307800-80308800	Enhancers	Pancreas	Pancrea
13	chr14:80308000-80308400	Flanking Active TSS	Liver	Liver
14	chr14:80308000-80308400	Enhancers	Brain Hippocampus Middle	brain
15	chr14:80308000-80308600	Enhancers	Colon Smooth Muscle	Colon
16	chr14:80308000-80309400	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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