Variant report

Variant	rs4295627
Chromosome Location	chr8:130685457-130685458
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10092679	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10101342	1.00[CEU][hapmap];0.90[GIH][hapmap];0.87[JPT][hapmap];0.88[MEX][hapmap];0.86[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1077236	0.91[CEU][hapmap];0.90[TSI][hapmap];0.93[EUR][1000 genomes]
rs16893247	0.91[CEU][hapmap];0.90[TSI][hapmap]
rs16904133	1.00[CEU][hapmap];0.87[JPT][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16904135	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16904140	0.92[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs28572791	0.90[EUR][1000 genomes]
rs4367505	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4498505	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs5022680	0.86[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6470745	1.00[CEU][hapmap];0.90[GIH][hapmap];0.81[MEX][hapmap];0.86[TSI][hapmap];0.90[EUR][1000 genomes]
rs68055908	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6985032	1.00[CEU][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][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	nsv891446	chr8:130656205-130710638	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

Variant related diseases (count:2)

Disease	PMID	Source
Glioma	21531791	GWAS catalog
Glioma	19578367	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4295627	FAM49B	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130682600-130694000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:130684800-130686000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
3	chr8:130685000-130686000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr8:130685000-130686000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:130685400-130688200	Enhancers	K562	blood

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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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