Variant report

Variant	rs288193
Chromosome Location	chr5:107318611-107318612
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10477882	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17160804	0.82[AMR][1000 genomes]
rs176385	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs188275	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2116823	0.92[CHD][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap]
rs2416521	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs288180	0.82[TSI][hapmap]
rs288183	0.96[TSI][hapmap]
rs288187	0.92[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs288188	0.92[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs288190	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs288191	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2916577	0.91[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6596762	0.90[CHB][hapmap]
rs6867577	0.86[CHB][hapmap];0.89[JPT][hapmap]
rs6882731	0.89[CHD][hapmap];0.85[MEX][hapmap]
rs6886766	0.89[CHD][hapmap];0.85[MEX][hapmap]
rs6896080	0.90[CHB][hapmap]
rs7444532	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7707026	0.90[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7716454	0.84[CHD][hapmap]
rs7721143	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs8180405	0.91[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs867912	0.90[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9328026	0.90[CHB][hapmap]
rs967489	0.90[CHB][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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs288193	FER	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107296200-107321000	Weak transcription	Primary T cells from cord blood	blood
2	chr5:107302400-107334600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:107309000-107318800	Weak transcription	Left Ventricle	heart
4	chr5:107313800-107321000	Weak transcription	Lung	lung
5	chr5:107314400-107320400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:107314600-107320800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr5:107316000-107327000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr5:107316200-107320000	Weak transcription	Dnd41	blood
9	chr5:107317400-107318800	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr5:107318400-107319600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr5:107318600-107319200	Enhancers	Primary T cells fromperipheralblood	blood
12	chr5:107318600-107319200	Enhancers	Stomach Mucosa	stomach

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