Variant report

Variant	rs58117458
Chromosome Location	chr12:66598924-66598925
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:66561420..66564923-chr12:66598704..66601731,3	K562	blood:
2	chr12:66561052..66563849-chr12:66595692..66600128,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155957	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs58801573	1.00[AMR][1000 genomes]
rs61293788	1.00[AMR][1000 genomes]
rs7311517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73314145	1.00[AMR][1000 genomes]
rs73314150	1.00[AMR][1000 genomes]
rs73314153	1.00[AMR][1000 genomes]
rs73314160	1.00[AMR][1000 genomes]
rs73315987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73317705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73321649	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	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1049537	chr12:66403269-66606174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv899216	chr12:66563835-66716844	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv541517	chr12:66576953-66639823	ZNF genes & repeats Enhancers Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66583800-66623400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:66589400-66606000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:66589600-66623400	Weak transcription	Spleen	Spleen
4	chr12:66592200-66604400	Weak transcription	NHDF-Ad	bronchial
5	chr12:66592200-66606000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:66592400-66603400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:66592400-66628400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr12:66593400-66606000	Weak transcription	Adipose Nuclei	Adipose
9	chr12:66593400-66613400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr12:66594600-66603800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr12:66597200-66603200	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr12:66597400-66603200	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr12:66597600-66600800	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr12:66597600-66623400	Weak transcription	Aorta	Aorta
15	chr12:66597800-66601000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:66597800-66609000	Weak transcription	Stomach Mucosa	stomach
17	chr12:66598000-66600800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:66598200-66602000	Strong transcription	Primary hematopoietic stem cells	blood
19	chr12:66598800-66599000	Strong transcription	Fetal Lung	lung
20	chr12:66598800-66599000	Enhancers	Left Ventricle	heart
21	chr12:66598800-66599000	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
22	chr12:66598800-66599800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:66598800-66604400	Weak transcription	Primary B cells from cord blood	blood

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