Variant report

Variant	rs12643603
Chromosome Location	chr4:47482518-47482519
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10021832	0.95[ASN][1000 genomes]
rs34200884	0.84[ASN][1000 genomes]
rs35760816	0.88[ASN][1000 genomes]
rs4420957	0.95[ASN][1000 genomes]
rs4438736	0.93[ASN][1000 genomes]
rs4508853	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4571306	0.95[ASN][1000 genomes]
rs4577551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58951455	0.85[ASN][1000 genomes]
rs6823873	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6844173	0.93[ASN][1000 genomes]
rs7683828	0.86[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	nsv879005	chr4:47408838-47548254	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv829923	chr4:47436139-47678443	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 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	chr4:47471200-47487000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:47476600-47485800	Weak transcription	Placenta	Placenta
3	chr4:47480600-47484200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr4:47481000-47487000	Weak transcription	Esophagus	oesophagus
5	chr4:47481200-47484000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:47481200-47486400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr4:47481400-47484000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:47481400-47484000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:47481400-47484000	Weak transcription	HMEC	breast
10	chr4:47481600-47484000	Weak transcription	NHEK	skin

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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