Variant report

Variant	rs17582515
Chromosome Location	chr2:235094377-235094378
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs17485386	0.86[EUR][1000 genomes]
rs17582501	0.87[EUR][1000 genomes]
rs2159690	0.85[EUR][1000 genomes]
rs4663355	0.87[EUR][1000 genomes]
rs4663356	0.87[EUR][1000 genomes]
rs4663357	0.83[EUR][1000 genomes]
rs4663358	0.84[EUR][1000 genomes]
rs4663359	0.84[EUR][1000 genomes]
rs4663360	0.83[EUR][1000 genomes]
rs4663361	0.83[EUR][1000 genomes]
rs55868732	0.83[EUR][1000 genomes]
rs56100905	0.83[EUR][1000 genomes]
rs59064651	0.85[EUR][1000 genomes]
rs60401245	0.85[EUR][1000 genomes]
rs62184330	0.85[EUR][1000 genomes]
rs62184335	0.83[EUR][1000 genomes]
rs62184336	0.84[EUR][1000 genomes]
rs62184337	0.82[EUR][1000 genomes]
rs62184339	0.84[EUR][1000 genomes]
rs62184340	0.84[EUR][1000 genomes]
rs62184341	0.84[EUR][1000 genomes]
rs62184342	0.84[EUR][1000 genomes]
rs62184343	0.84[EUR][1000 genomes]
rs62184344	0.84[EUR][1000 genomes]
rs62184345	0.84[EUR][1000 genomes]
rs62184348	0.83[EUR][1000 genomes]
rs62184349	0.81[EUR][1000 genomes]
rs62184350	0.81[EUR][1000 genomes]
rs62184352	0.81[EUR][1000 genomes]
rs62184355	0.81[EUR][1000 genomes]
rs6743361	0.82[EUR][1000 genomes]
rs6758970	0.83[EUR][1000 genomes]
rs715272	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013712	chr2:234558457-235495825	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532476	chr2:234595695-235134381	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv834571	chr2:234929288-235110332	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv584713	chr2:235092011-235236611	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17582515	USP40	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:235078600-235098000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:235094000-235094800	Weak transcription	Dnd41	blood
3	chr2:235094000-235097800	Weak transcription	NHEK	skin

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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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