Variant report

Variant	rs12986742
Chromosome Location	chr2:58975143-58975144
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10165014	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10193538	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs10204566	0.86[ASN][1000 genomes]
rs1613599	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2862872	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2862873	0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs2862874	0.88[ASN][1000 genomes]
rs6419632	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs6723486	0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs6731121	0.89[ASN][1000 genomes]
rs6759519	0.83[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs6759757	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs727856	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs727857	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7596101	0.92[ASN][1000 genomes]
rs7597839	0.88[ASN][1000 genomes]
rs963537	0.83[AFR][1000 genomes];0.90[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	nsv431180	chr2:58857542-59178687	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv528866	chr2:58955953-58975143	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12986742	USP34	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58973800-58976200	Enhancers	Brain Germinal Matrix	brain
2	chr2:58974400-58975600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:58974600-58975200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:58974800-58977000	Weak transcription	Fetal Brain Female	brain

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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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