Variant report

Variant	rs12550397
Chromosome Location	chr8:69901097-69901098
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10093389	0.90[JPT][hapmap]
rs10504435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11985132	1.00[CEU][hapmap]
rs12545358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12545420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12549168	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12550286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12675555	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12675576	1.00[CEU][hapmap];0.92[CHB][hapmap];0.90[JPT][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16935176	1.00[CEU][hapmap]
rs16935336	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16935360	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs16935363	0.90[JPT][hapmap]
rs1974974	0.90[JPT][hapmap]
rs4737935	0.81[ASW][hapmap];1.00[CEU][hapmap];0.92[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.81[LWK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4737936	1.00[EUR][1000 genomes]
rs55729603	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6999385	1.00[EUR][1000 genomes]
rs6999406	1.00[EUR][1000 genomes]
rs73683796	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73683801	0.94[EUR][1000 genomes]
rs7819411	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7819425	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7825661	0.94[EUR][1000 genomes]
rs7827405	1.00[CEU][hapmap]

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	nsv1031633	chr8:69766575-70322790	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv33049	chr8:69836813-69943360	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69879600-69917200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:69897200-69901800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:69898000-69901600	Weak transcription	HSMM	muscle
4	chr8:69900600-69901800	Enhancers	Osteobl	bone
5	chr8:69900600-69902200	Enhancers	HUVEC	blood vessel
6	chr8:69900800-69901800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr8:69900800-69902000	Enhancers	NH-A	brain
8	chr8:69901000-69902800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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