Variant report

Variant	rs2955484
Chromosome Location	chr12:24678993-24678994
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10743510	1.00[AMR][1000 genomes]
rs10743513	1.00[AMR][1000 genomes]
rs10771101	1.00[AMR][1000 genomes]
rs10771102	1.00[AMR][1000 genomes]
rs10771112	1.00[AMR][1000 genomes]
rs1115525	1.00[AMR][1000 genomes]
rs1386641	1.00[AMR][1000 genomes]
rs1386643	1.00[AMR][1000 genomes]
rs1487652	1.00[AMR][1000 genomes]
rs1487653	1.00[AMR][1000 genomes]
rs2354628	1.00[AMR][1000 genomes]
rs2955485	1.00[AMR][1000 genomes]
rs2955486	1.00[AMR][1000 genomes]
rs2970420	1.00[AMR][1000 genomes]
rs3112132	1.00[AMR][1000 genomes]
rs4029339	1.00[AMR][1000 genomes]
rs6487402	1.00[AMR][1000 genomes]
rs6487403	1.00[AMR][1000 genomes]
rs7136885	1.00[AMR][1000 genomes]
rs962728	1.00[AMR][1000 genomes]
rs997025	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422312	chr12:24519392-25221686	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv832352	chr12:24534823-24736540	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1046463	chr12:24538432-24916851	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv898920	chr12:24648863-25147192	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv915555	chr12:24666481-24952013	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:24674800-24681600	Weak transcription	Dnd41	blood
2	chr12:24676800-24680600	Weak transcription	NHLF	lung
3	chr12:24677000-24685000	Weak transcription	Fetal Lung	lung
4	chr12:24677400-24686800	Weak transcription	Fetal Brain Female	brain
5	chr12:24677800-24679200	Weak transcription	Ovary	ovary
6	chr12:24677800-24683200	Weak transcription	Adipose Nuclei	Adipose
7	chr12:24678000-24679600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:24678200-24680000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:24678200-24680000	Weak transcription	Fetal Heart	heart
10	chr12:24678800-24679400	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr12:24678800-24679600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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