Variant report

Variant	rs73243409
Chromosome Location	chr8:65609595-65609596
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]
rs60050156	1.00[EUR][1000 genomes]
rs73242282	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73243403	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73243414	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73243429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73248371	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	nsv534001	chr8:64992196-65798776	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	esv2761434	chr8:65578467-66567678	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 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	chr8:65604400-65610000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr8:65605600-65615200	Weak transcription	Aorta	Aorta
3	chr8:65606000-65610000	Weak transcription	Left Ventricle	heart
4	chr8:65606000-65612600	Weak transcription	Pancreas	Pancrea
5	chr8:65606000-65612600	Weak transcription	Spleen	Spleen
6	chr8:65608000-65609600	Weak transcription	Fetal Brain Male	brain
7	chr8:65608000-65611600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr8:65608000-65612200	Weak transcription	Fetal Brain Female	brain
9	chr8:65608000-65612400	Weak transcription	Brain Anterior Caudate	brain
10	chr8:65608000-65612400	Weak transcription	Brain Hippocampus Middle	brain
11	chr8:65608000-65612600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr8:65608200-65612600	Weak transcription	Brain Substantia Nigra	brain
13	chr8:65608600-65610200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:65608800-65612600	Weak transcription	Brain Angular Gyrus	brain
15	chr8:65609000-65609800	Enhancers	Adipose Nuclei	Adipose
16	chr8:65609400-65610000	Enhancers	GM12878-XiMat	blood

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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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