Variant report

Variant	rs2088983
Chromosome Location	chr4:160643774-160643775
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11100255	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs13150115	0.80[EUR][1000 genomes]
rs1473392	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1473393	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1976456	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2088981	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2088982	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2348620	0.93[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs28493940	0.93[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs4280694	0.89[EUR][1000 genomes]
rs61217796	0.86[EUR][1000 genomes]
rs62338507	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs6536465	0.98[EUR][1000 genomes]
rs7667063	0.89[EUR][1000 genomes]
rs7690659	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7698008	0.80[EUR][1000 genomes]
rs868962	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9993565	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015469	chr4:160389277-160841619	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv537316	chr4:160389277-160841619	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv595813	chr4:160574450-160665365	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2088983	SART1	trans	brain	seeQTL
rs2088983	RAPGEF2	cis	parietal	SCAN
rs2088983	PRKCSH	trans	brain	seeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:160642200-160644400	Weak transcription	Right Ventricle	heart
2	chr4:160643600-160644400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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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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