Variant report

Variant	rs12428485
Chromosome Location	chr13:84975546-84975547
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12427450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12427496	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12427710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12428277	0.84[ASN][1000 genomes]
rs12428484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12428516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12429232	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12429466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12429471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12430337	0.84[ASN][1000 genomes]
rs12431333	0.84[ASN][1000 genomes]
rs17078129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17078133	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17078136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17078138	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17078142	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17078146	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2094798	0.84[ASN][1000 genomes]
rs55965959	0.80[ASN][1000 genomes]
rs57755697	0.84[ASN][1000 genomes]
rs58632816	1.00[EUR][1000 genomes]
rs59190518	0.84[ASN][1000 genomes]
rs60711933	0.84[ASN][1000 genomes]
rs61005943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61300340	0.84[ASN][1000 genomes]
rs74101119	0.84[ASN][1000 genomes]
rs74101121	0.84[ASN][1000 genomes]
rs74101122	0.84[ASN][1000 genomes]
rs9593920	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949402	chr13:84675752-85606846	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv832665	chr13:84848087-85041311	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv900690	chr13:84877516-85052477	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv521458	chr13:84902560-84986073	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv2754893	chr13:84931199-85055599	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv456046	chr13:84971270-85262508	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv562561	chr13:84971270-85262508	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:84973400-84975600	Enhancers	Osteobl	bone
2	chr13:84973400-84975800	Enhancers	HMEC	breast
3	chr13:84973600-84975800	Enhancers	Muscle Satellite Cultured Cells	--
4	chr13:84974000-84977000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:84974600-84975800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr13:84974600-84975800	Enhancers	NHEK	skin
7	chr13:84974800-84975600	Enhancers	HSMM	muscle
8	chr13:84974800-84975800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr13:84974800-84975800	Enhancers	NH-A	brain
10	chr13:84975000-84976200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr13:84975200-84975800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr13:84975400-84979200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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