Variant report

Variant	rs12050136
Chromosome Location	chr14:24860045-24860046
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:24858434..24861313-chr14:24861700..24864239,2	K562	blood:
2	chr14:24833467..24839902-chr14:24859160..24864405,20	MCF-7	breast:
3	chr14:24851445..24853553-chr14:24858917..24861549,2	K562	blood:
4	chr14:24833959..24838686-chr14:24858666..24863221,13	MCF-7	breast:
5	chr14:24820952..24822778-chr14:24858801..24861565,2	MCF-7	breast:
6	chr14:24857849..24868599-chr14:24892485..24903992,27	MCF-7	breast:
7	chr14:24842752..24851075-chr14:24856697..24867572,25	MCF-7	breast:
8	chr14:24709900..24711561-chr14:24858223..24860147,2	MCF-7	breast:
9	chr14:24802773..24804594-chr14:24859547..24861425,2	MCF-7	breast:
10	chr14:24835358..24838286-chr14:24859475..24862948,3	K562	blood:
11	chr14:24842116..24850865-chr14:24857760..24868159,21	MCF-7	breast:
12	chr14:24859194..24861897-chr14:24897028..24900243,3	K562	blood:
13	chr14:24858574..24860356-chr14:24867441..24869639,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000100968	Chromatin interaction
ENSG00000139899	Chromatin interaction
ENSG00000092330	Chromatin interaction
ENSG00000129467	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000207141	Chromatin interaction
ENSG00000205978	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12050181	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24852600-24860600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:24856400-24860600	Weak transcription	Stomach Mucosa	stomach
3	chr14:24856400-24861600	Weak transcription	Duodenum Mucosa	Duodenum
4	chr14:24856600-24861400	Weak transcription	Fetal Kidney	kidney
5	chr14:24857000-24860800	Enhancers	Placenta	Placenta
6	chr14:24857800-24860400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr14:24858000-24860800	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr14:24858600-24861400	Enhancers	HUVEC	blood vessel
9	chr14:24858800-24860400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr14:24858800-24860400	Weak transcription	Fetal Lung	lung
11	chr14:24858800-24862200	Enhancers	Primary hematopoietic stem cells	blood
12	chr14:24859000-24860200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr14:24859000-24860400	Weak transcription	K562	blood
14	chr14:24859000-24860600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr14:24859000-24861200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr14:24859000-24861400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr14:24859000-24861600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr14:24859000-24865000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr14:24859000-24867000	Weak transcription	Right Atrium	heart
20	chr14:24859200-24860400	Weak transcription	Fetal Intestine Large	intestine
21	chr14:24859200-24860600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr14:24859200-24860600	Weak transcription	Fetal Intestine Small	intestine
23	chr14:24859200-24860600	Weak transcription	Lung	lung
24	chr14:24859200-24860800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr14:24859200-24861400	Weak transcription	Osteobl	bone
26	chr14:24859200-24861600	Weak transcription	NHDF-Ad	bronchial
27	chr14:24859200-24863200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr14:24859200-24866200	Weak transcription	Fetal Stomach	stomach
29	chr14:24859200-24867200	Weak transcription	NHLF	lung
30	chr14:24859800-24860600	Bivalent Enhancer	HepG2	liver
31	chr14:24859800-24860800	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr14:24859800-24860800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr14:24859800-24860800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr14:24860000-24860200	Enhancers	Primary B cells from cord blood	blood
35	chr14:24860000-24860400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr14:24860000-24860800	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr14:24860000-24861200	Enhancers	A549	lung
38	chr14:24860000-24862000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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