Variant report

Variant	rs1712383
Chromosome Location	chr4:82142781-82142782
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1712387	0.84[EUR][1000 genomes]
rs710835	0.87[EUR][1000 genomes]
rs710838	0.88[EUR][1000 genomes]
rs788855	0.87[EUR][1000 genomes]
rs788856	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs788858	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs788860	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs788862	0.91[EUR][1000 genomes]
rs788863	0.88[EUR][1000 genomes]
rs788864	0.88[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	nsv999729	chr4:81802554-82627820	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription 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 miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv537156	chr4:81802554-82627820	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh 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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:82137400-82143200	Enhancers	Fetal Intestine Large	intestine
2	chr4:82137400-82143200	Enhancers	Fetal Intestine Small	intestine
3	chr4:82142000-82143000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr4:82142200-82142800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:82142200-82143000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr4:82142200-82143200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:82142400-82143200	Enhancers	HUES6 Cell Line	embryonic stem cell

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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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