Variant report

Variant	rs4074651
Chromosome Location	chr5:75304492-75304493
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10036649	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10066781	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13176165	0.91[EUR][1000 genomes]
rs1393205	0.80[AMR][1000 genomes]
rs1501905	0.87[MEX][hapmap]
rs1553310	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1910051	0.81[EUR][1000 genomes]
rs28621	0.83[MEX][hapmap];0.89[TSI][hapmap]
rs2937705	0.83[MEX][hapmap];0.91[TSI][hapmap]
rs30191	0.81[CEU][hapmap];0.83[MEX][hapmap];0.91[TSI][hapmap]
rs30196	0.83[GIH][hapmap];0.96[MEX][hapmap];0.86[TSI][hapmap]
rs4235691	0.91[EUR][1000 genomes]
rs4308461	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6895566	0.90[EUR][1000 genomes]
rs7378518	0.80[AMR][1000 genomes]
rs7443455	0.82[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	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv518475	chr5:74863041-75411804	Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4074651	CTC-235G5.3	cis	Nerve Tibial	GTEx
rs4074651	ARSB	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75302400-75306200	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr5:75303600-75304800	Enhancers	GM12878-XiMat	blood

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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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