Variant report

Variant	rs247990
Chromosome Location	chr5:167465018-167465019
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10866621	0.82[CHB][hapmap]
rs11952245	0.83[ASW][hapmap];0.87[CHB][hapmap];0.82[CHD][hapmap];0.98[LWK][hapmap];0.83[MEX][hapmap];1.00[MKK][hapmap];0.83[YRI][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1347135	0.82[CHB][hapmap]
rs1347136	0.82[CHB][hapmap]
rs17069705	1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.98[LWK][hapmap];0.83[MEX][hapmap];0.97[MKK][hapmap];0.83[YRI][hapmap];0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1862418	0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs247994	0.95[CEU][hapmap];0.91[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3860782	0.82[CHB][hapmap]
rs6897683	0.81[CEU][hapmap];0.82[CHB][hapmap];0.80[CHD][hapmap];0.89[GIH][hapmap];0.86[JPT][hapmap];0.91[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[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	nsv517414	chr5:167462765-167465018	Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs247990	FBXW11	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:167443800-167466000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:167447600-167483000	Weak transcription	Right Atrium	heart
3	chr5:167450600-167466600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:167450800-167474000	Weak transcription	Left Ventricle	heart
5	chr5:167455200-167474600	Weak transcription	NHEK	skin
6	chr5:167457400-167469000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr5:167457800-167465200	Weak transcription	Right Ventricle	heart
8	chr5:167458200-167474200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:167463800-167470800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:167464200-167465400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	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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