Variant report

Variant	rs17113351
Chromosome Location	chr1:95779082-95779083
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs12403330	0.84[AMR][1000 genomes]
rs17113357	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17113362	0.90[AFR][1000 genomes]
rs17113367	0.81[JPT][hapmap]
rs17113368	0.88[CEU][hapmap]
rs17113369	0.91[YRI][hapmap];0.90[AFR][1000 genomes]
rs17113372	0.90[AFR][1000 genomes]
rs2236390	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56854428	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830648	chr1:95760162-95926264	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1006113	chr1:95768502-96139003	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17113351	GFI1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95769200-95782000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:95774400-95786800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:95777000-95786800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr1:95777600-95779200	Weak transcription	Fetal Brain Male	brain
5	chr1:95778200-95781200	Weak transcription	iPS-18 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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