Variant report

Variant	rs286821
Chromosome Location	chr5:107429510-107429511
allele	A/G
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]
rs12651724	0.80[CHB][hapmap]
rs12652643	0.81[CHB][hapmap]
rs12652687	0.81[CHB][hapmap]
rs12654751	0.81[CHB][hapmap]
rs17442556	0.81[CHB][hapmap]
rs17443045	0.81[CHB][hapmap]
rs17449654	0.81[CHB][hapmap]
rs17449723	0.81[CHB][hapmap]
rs286751	0.81[CHB][hapmap]
rs286805	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs286808	0.92[CHB][hapmap];0.85[JPT][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs289232	0.86[CHB][hapmap]
rs34385	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34410	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[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	nsv882682	chr5:107213361-107458336	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv534281	chr5:107357579-107674981	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1029650	chr5:107370079-107435314	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs286821	FBXL17	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107388400-107510800	Weak transcription	Primary B cells from cord blood	blood
2	chr5:107403800-107429800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:107416000-107443600	Weak transcription	Primary T cells from cord blood	blood
4	chr5:107419200-107436600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr5:107420000-107433000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:107421400-107437000	Weak transcription	Psoas Muscle	Psoas
7	chr5:107426800-107430800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr5:107427200-107432200	Weak transcription	Fetal Lung	lung
9	chr5:107427400-107443800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr5:107428200-107438200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr5:107429000-107429800	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr5:107429200-107430000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr5:107429400-107437400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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