Variant report

Variant	rs12428746
Chromosome Location	chr13:76453115-76453116
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12427729	0.90[AMR][1000 genomes]
rs12428250	0.87[AFR][1000 genomes]
rs12428617	1.00[CEU][hapmap];0.87[AFR][1000 genomes]
rs12429534	0.87[AFR][1000 genomes]
rs12430034	0.87[AFR][1000 genomes]
rs1542115	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs17065053	0.87[AFR][1000 genomes]
rs17065074	0.87[AFR][1000 genomes]
rs17065145	0.84[CHB][hapmap];0.83[AMR][1000 genomes]
rs2120060	0.84[CHB][hapmap]
rs2165774	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2241913	0.87[AFR][1000 genomes]
rs2296093	0.83[AMR][1000 genomes]
rs3736858	0.80[AMR][1000 genomes]
rs3825439	0.84[CHB][hapmap]
rs4885357	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61958155	0.87[AFR][1000 genomes]
rs61958157	0.87[AFR][1000 genomes]
rs61959560	0.87[AFR][1000 genomes]
rs61959561	0.87[AFR][1000 genomes]
rs61959583	0.83[AMR][1000 genomes]
rs61959624	0.84[AMR][1000 genomes]
rs61959635	1.00[AFR][1000 genomes]
rs9318380	0.84[AMR][1000 genomes]
rs9530471	0.84[CHB][hapmap];0.83[AMR][1000 genomes]
rs9544050	0.84[CHB][hapmap]
rs9544051	0.84[CHB][hapmap]
rs9544056	0.92[CHB][hapmap];0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9544059	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832646	chr13:76300428-76483102	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv2758333	chr13:76321610-76542003	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	esv2759950	chr13:76321610-76542003	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv832649	chr13:76424872-76657891	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76440000-76469200	Weak transcription	HSMM	muscle
2	chr13:76445400-76454400	Weak transcription	Osteobl	bone
3	chr13:76445600-76453400	Weak transcription	Adipose Nuclei	Adipose
4	chr13:76445600-76453600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr13:76451200-76453800	Weak transcription	Colon Smooth Muscle	Colon
6	chr13:76451200-76454000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr13:76451200-76454800	Weak transcription	Fetal Stomach	stomach
8	chr13:76451400-76454800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr13:76451400-76455000	Weak transcription	Fetal Kidney	kidney
10	chr13:76451400-76455000	Weak transcription	Fetal Lung	lung
11	chr13:76451600-76454800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr13:76451600-76455400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr13:76451800-76463600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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