Variant report

Variant	rs58898379
Chromosome Location	chr12:10715350-10715351
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:10389063..10390009-chr12:10714674..10715483,2	K562	blood:
2	chr12:10484283..10485072-chr12:10714510..10715568,4	K562	blood:
3	chr12:10388060..10389289-chr12:10714524..10715522,5	MCF-7	breast:
4	chr12:10713530..10716257-chr12:10762530..10764410,2	MCF-7	breast:
5	chr12:10714679..10715464-chr12:10826841..10827362,2	MCF-7	breast:
6	chr12:10305944..10306449-chr12:10714647..10715601,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000060140	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs55706835	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs58067632	0.84[AMR][1000 genomes]
rs59582425	0.93[AMR][1000 genomes]
rs59816952	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs60400937	0.84[AMR][1000 genomes]
rs61143136	0.85[AFR][1000 genomes]
rs6488311	0.85[AFR][1000 genomes]
rs7303086	0.85[AFR][1000 genomes]
rs7308730	0.85[AFR][1000 genomes]
rs7309605	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs7316572	0.85[AFR][1000 genomes]
rs73252005	0.84[AMR][1000 genomes]
rs73252057	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs73254032	0.85[AMR][1000 genomes]
rs7957198	0.93[AMR][1000 genomes]
rs7959470	0.86[AMR][1000 genomes]
rs7959753	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs7962734	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs7972993	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs7974801	0.86[AMR][1000 genomes]
rs7975390	0.85[AMR][1000 genomes]
rs7978122	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898766	chr12:10537269-10722585	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv557459	chr12:10560591-10729821	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv898772	chr12:10622047-10722585	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv557479	chr12:10644663-10729821	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv898773	chr12:10660850-10722585	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv898774	chr12:10666025-10722585	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv898775	chr12:10668694-10735786	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv1039120	chr12:10675930-10755446	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv832329	chr12:10677094-10845946	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 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	chr12:10710800-10724800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:10713200-10715400	Enhancers	Primary T killer memory cells from peripheral blood	blood
3	chr12:10714000-10716000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr12:10714000-10733200	Weak transcription	Primary T cells from cord blood	blood
5	chr12:10714400-10717000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:10714600-10716000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr12:10714600-10718400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:10714800-10715400	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr12:10715200-10715400	Flanking Active TSS	Osteobl	bone
10	chr12:10715200-10715800	Enhancers	HSMM	muscle
11	chr12:10715200-10716800	Enhancers	NHDF-Ad	bronchial

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