Variant report

Variant	rs17048424
Chromosome Location	chr2:57040068-57040069
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1016542	0.95[JPT][hapmap]
rs11125651	0.82[ASN][1000 genomes]
rs11125652	0.82[ASN][1000 genomes]
rs11125660	0.95[ASN][1000 genomes]
rs11684449	0.92[ASN][1000 genomes]
rs12619277	0.92[ASN][1000 genomes]
rs17048349	0.81[ASN][1000 genomes]
rs17048412	0.94[ASN][1000 genomes]
rs17048414	0.94[ASN][1000 genomes]
rs17048423	0.95[ASN][1000 genomes]
rs17651589	0.91[ASN][1000 genomes]
rs2072585	0.81[ASN][1000 genomes]
rs2112028	0.80[ASN][1000 genomes]
rs2161032	0.80[ASN][1000 genomes]
rs4140687	0.82[ASN][1000 genomes]
rs55695937	0.82[ASN][1000 genomes]
rs56050106	0.81[ASN][1000 genomes]
rs977375	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008859	chr2:56767452-57126026	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv535726	chr2:56767452-57126026	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv582059	chr2:56892585-57175087	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv535727	chr2:56895497-57059359	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1007347	chr2:56904928-57100439	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv582060	chr2:56941668-57137622	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1002180	chr2:57019964-57130245	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17048424	C1orf101	trans	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:57039000-57040400	Enhancers	NHEK	skin
2	chr2:57039200-57040400	Enhancers	Muscle Satellite Cultured Cells	--
3	chr2:57039600-57040200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:57039600-57040800	Enhancers	A549	lung
5	chr2:57039800-57040200	Enhancers	Hela-S3	cervix

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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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