Variant report

Variant	rs73005522
Chromosome Location	chr3:143348625-143348626
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]
rs11927300	0.85[AMR][1000 genomes]
rs11927396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11928337	0.90[AFR][1000 genomes]
rs16853906	0.83[AMR][1000 genomes]
rs3894056	0.83[AMR][1000 genomes]
rs73001769	0.83[AMR][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	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv829745	chr3:143278512-143405626	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 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	chr3:143324400-143353800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr3:143328200-143376200	Weak transcription	Ovary	ovary
3	chr3:143337400-143354200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr3:143339200-143355200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr3:143345600-143349800	Weak transcription	Brain Angular Gyrus	brain
6	chr3:143346400-143363200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:143346600-143352800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr3:143346600-143355600	Weak transcription	Primary T cells from cord blood	blood
9	chr3:143348000-143349400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr3:143348200-143355400	Weak transcription	Monocytes-CD14+_RO01746	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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