Variant report

Variant	rs57233248
Chromosome Location	chr4:143391794-143391795
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1364916	1.00[AMR][1000 genomes]
rs1906874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2087445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2194871	1.00[AMR][1000 genomes]
rs4054899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59419951	1.00[AMR][1000 genomes]
rs60037426	1.00[AMR][1000 genomes]
rs60148840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60942288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61411607	1.00[AMR][1000 genomes]
rs61553390	1.00[AMR][1000 genomes]
rs6839853	1.00[AMR][1000 genomes]
rs7682953	1.00[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	nsv498005	chr4:142515689-143502988	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS 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	11 gene(s)	inside rSNPs	diseases
2	nsv830100	chr4:143216951-143393305	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:143367000-143392600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:143369200-143410600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr4:143371600-143400800	Weak transcription	Aorta	Aorta
4	chr4:143380400-143394800	Weak transcription	Pancreas	Pancrea
5	chr4:143384600-143394800	Weak transcription	Fetal Intestine Small	intestine
6	chr4:143385200-143394800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:143388600-143395200	Weak transcription	HSMMtube	muscle
8	chr4:143390400-143397000	Weak transcription	Right Atrium	heart
9	chr4:143391000-143392600	Weak transcription	Esophagus	oesophagus

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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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