Variant report

Variant	rs17008991
Chromosome Location	chr2:73610116-73610117
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10190219	1.00[JPT][hapmap]
rs10198549	1.00[JPT][hapmap]
rs10496192	1.00[JPT][hapmap]
rs11884776	1.00[JPT][hapmap]
rs13398956	1.00[JPT][hapmap]
rs13421462	1.00[JPT][hapmap]
rs17349818	1.00[AFR][1000 genomes]
rs28730854	1.00[AFR][1000 genomes]
rs6705489	1.00[JPT][hapmap]
rs6756885	1.00[JPT][hapmap]
rs7580825	1.00[JPT][hapmap]
rs7594511	1.00[JPT][hapmap]
rs9309473	1.00[JPT][hapmap]

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	nsv2778	chr2:73596272-73615138	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs17008991	ALMS1	Cis_1M	lymphoblastoid	RTeQTL
rs17008991	ALMS1	cis	Whole Blood	GTEx
rs17008991	ALMS1P	cis	Muscle Skeletal	GTEx
rs17008991	ALMS1P	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73610000-73612000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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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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