Variant report

Variant	rs72692141
Chromosome Location	chr14:24519651-24519652
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:24519494..24523801-chr14:24562244..24565641,8	MCF-7	breast:
2	chr14:24519207..24521902-chr14:24608488..24612189,3	MCF-7	breast:
3	chr14:24519507..24523114-chr14:24581353..24584961,4	MCF-7	breast:
4	chr14:24519379..24521106-chr14:24565277..24567591,2	MCF-7	breast:
5	chr14:24519595..24523490-chr14:24615649..24620329,4	MCF-7	breast:
6	chr14:24519308..24521603-chr14:24550146..24552325,2	K562	blood:
7	chr14:24519146..24523502-chr14:24549476..24554002,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100911	Chromatin interaction
ENSG00000100889	Chromatin interaction
ENSG00000092098	Chromatin interaction
ENSG00000129535	Chromatin interaction
ENSG00000100908	Chromatin interaction
ENSG00000259321	Chromatin interaction
ENSG00000100897	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1043650	1.00[AFR][1000 genomes]
rs2984716	1.00[AFR][1000 genomes]
rs45592432	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs55643821	1.00[AFR][1000 genomes]
rs55664822	1.00[AFR][1000 genomes]
rs55696718	1.00[AFR][1000 genomes]
rs55777341	1.00[AFR][1000 genomes]
rs55895464	1.00[AFR][1000 genomes]
rs55933233	1.00[AFR][1000 genomes]
rs55986585	1.00[AFR][1000 genomes]
rs56013927	1.00[AFR][1000 genomes]
rs56021847	1.00[AFR][1000 genomes]
rs56079821	1.00[AFR][1000 genomes]
rs56145320	1.00[AFR][1000 genomes]
rs56166780	1.00[AFR][1000 genomes]
rs56171184	1.00[AFR][1000 genomes]
rs56239015	1.00[AFR][1000 genomes]
rs61999785	1.00[AFR][1000 genomes]
rs61999794	1.00[AFR][1000 genomes]
rs61999796	1.00[AFR][1000 genomes]
rs61999797	1.00[AFR][1000 genomes]
rs61999798	1.00[AFR][1000 genomes]
rs61999799	1.00[AFR][1000 genomes]
rs61999801	1.00[AFR][1000 genomes]
rs61999802	1.00[AFR][1000 genomes]
rs61999849	1.00[AFR][1000 genomes]
rs61999850	1.00[AFR][1000 genomes]
rs61999852	1.00[AFR][1000 genomes]
rs61999855	1.00[AFR][1000 genomes]
rs61999856	1.00[AFR][1000 genomes]
rs62000761	1.00[AFR][1000 genomes]
rs62000792	1.00[AFR][1000 genomes]
rs62000814	1.00[AFR][1000 genomes]
rs62000817	1.00[AFR][1000 genomes]
rs62000818	1.00[AFR][1000 genomes]
rs7158037	1.00[AFR][1000 genomes]
rs72692113	1.00[AFR][1000 genomes]
rs72692114	1.00[AFR][1000 genomes]
rs72692115	1.00[AFR][1000 genomes]
rs72692116	1.00[AFR][1000 genomes]
rs72692118	1.00[AFR][1000 genomes]
rs72692119	1.00[AFR][1000 genomes]
rs72692120	1.00[AFR][1000 genomes]
rs72692121	1.00[AFR][1000 genomes]
rs72692132	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3405661	chr14:24189883-24670942	Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv1049316	chr14:24405420-24583724	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
3	nsv541999	chr14:24405420-24583724	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
4	nsv564047	chr14:24428509-24525634	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1052180	chr14:24429298-24555710	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv1037929	chr14:24478882-24522447	Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
7	nsv1043854	chr14:24488131-24522447	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
8	nsv516023	chr14:24489605-24550224	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
9	nsv983808	chr14:24503854-24523979	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
10	nsv482170	chr14:24505710-24520580	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
11	nsv1036658	chr14:24513905-24555710	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24506200-24520200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:24506200-24520600	Weak transcription	Spleen	Spleen
3	chr14:24507200-24520600	Weak transcription	Lung	lung
4	chr14:24507200-24520600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr14:24507200-24520600	Weak transcription	A549	lung
6	chr14:24511400-24520600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr14:24512200-24520400	Weak transcription	Adipose Nuclei	Adipose
8	chr14:24515000-24520600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr14:24517000-24520600	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr14:24517400-24520400	Weak transcription	Gastric	stomach
11	chr14:24518200-24520600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr14:24518400-24520400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr14:24518400-24520400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr14:24518400-24520600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr14:24518400-24520600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr14:24519200-24520400	Weak transcription	Primary B cells from peripheral blood	blood
17	chr14:24519200-24520400	Weak transcription	GM12878-XiMat	blood
18	chr14:24519200-24520600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:24519400-24520400	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr14:24519400-24520800	Weak transcription	Primary B cells from cord blood	blood

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