Variant report

Variant	rs17009127
Chromosome Location	chr1:221138422-221138423
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10495158	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11799633	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17009101	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17009107	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17009131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4846674	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58419507	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6679501	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73102756	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73102762	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73102768	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73102772	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73102774	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73102783	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv873199	chr1:221136672-221451217	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17009127	PGDS	trans	lymphoblastoid	RTeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221136000-221139000	Weak transcription	K562	blood
2	chr1:221136000-221139600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:221136000-221140200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:221136200-221139800	Weak transcription	NHDF-Ad	bronchial
5	chr1:221136400-221139600	Weak transcription	Osteobl	bone
6	chr1:221136400-221140200	Weak transcription	NHLF	lung
7	chr1:221136600-221140200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr1:221137200-221139600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	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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