Variant report

Variant	rs17442148
Chromosome Location	chr1:222187794-222187795
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:18)

rs_ID	r²[population]
rs11118911	0.83[ASN][1000 genomes]
rs11118921	0.82[ASN][1000 genomes]
rs11118922	0.82[ASN][1000 genomes]
rs11118923	0.82[ASN][1000 genomes]
rs11118924	0.85[ASN][1000 genomes]
rs11118929	0.97[ASN][1000 genomes]
rs12070612	0.81[ASN][1000 genomes]
rs12082069	0.96[ASN][1000 genomes]
rs12083686	0.83[ASN][1000 genomes]
rs12090915	0.82[ASN][1000 genomes]
rs12403104	0.84[ASN][1000 genomes]
rs17495034	0.90[ASN][1000 genomes]
rs34601597	0.84[ASN][1000 genomes]
rs34736719	0.82[ASN][1000 genomes]
rs4291507	0.83[ASN][1000 genomes]
rs59826275	0.91[ASN][1000 genomes]
rs61823898	0.83[ASN][1000 genomes]
rs7538348	0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014333	chr1:222131785-222245578	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17442148	C1orf65	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222183200-222191400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr1:222186600-222188000	Enhancers	Fetal Brain Female	brain
3	chr1:222186800-222188200	Enhancers	Fetal Brain Male	brain
4	chr1:222187200-222191400	Weak transcription	ES-I3 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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