Variant report

Variant	rs12050181
Chromosome Location	chr14:24858422-24858423
allele	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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24852229..24853960-chr14:24857056..24859882,4	K562	blood:
2	chr14:24858024..24859988-chr14:24904302..24906750,2	K562	blood:
3	chr14:24857849..24868599-chr14:24892485..24903992,27	MCF-7	breast:
4	chr14:24842752..24851075-chr14:24856697..24867572,25	MCF-7	breast:
5	chr14:24848975..24851488-chr14:24857640..24859288,2	K562	blood:
6	chr14:24709900..24711561-chr14:24858223..24860147,2	MCF-7	breast:
7	chr14:24842116..24850865-chr14:24857760..24868159,21	MCF-7	breast:
8	chr14:24839870..24842744-chr14:24857237..24859183,2	K562	blood:
9	chr14:24852725..24854755-chr14:24857683..24859392,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000139899	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000100968	Chromatin interaction
ENSG00000092330	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10129435	0.92[ASN][1000 genomes]
rs10130279	0.94[ASN][1000 genomes]
rs10141054	0.94[ASN][1000 genomes]
rs10148620	0.93[ASN][1000 genomes]
rs12050136	0.93[EUR][1000 genomes]
rs12050389	0.82[ASN][1000 genomes]
rs12433338	0.82[ASN][1000 genomes]
rs2332325	0.81[ASN][1000 genomes]
rs28393208	0.92[ASN][1000 genomes]
rs28457795	0.87[ASN][1000 genomes]
rs28575809	0.94[ASN][1000 genomes]
rs28637873	0.87[ASN][1000 genomes]
rs28695950	0.94[ASN][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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24847000-24859600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr14:24852600-24860600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:24854800-24859200	Enhancers	Fetal Intestine Small	intestine
4	chr14:24855400-24859200	Enhancers	Fetal Intestine Large	intestine
5	chr14:24856400-24860600	Weak transcription	Stomach Mucosa	stomach
6	chr14:24856400-24861600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr14:24856600-24861400	Weak transcription	Fetal Kidney	kidney
8	chr14:24857000-24860800	Enhancers	Placenta	Placenta
9	chr14:24857400-24858600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr14:24857400-24859000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr14:24857400-24859000	Bivalent Enhancer	HepG2	liver
12	chr14:24857400-24859000	Enhancers	K562	blood
13	chr14:24857600-24858800	Enhancers	Ovary	ovary
14	chr14:24857600-24859000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:24857600-24859200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr14:24857600-24859800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr14:24857800-24858800	Enhancers	Fetal Lung	lung
18	chr14:24857800-24859000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr14:24857800-24859000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr14:24857800-24859000	Enhancers	Placenta Amnion	Placenta Amnion
21	chr14:24857800-24859200	Enhancers	Fetal Stomach	stomach
22	chr14:24857800-24860400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr14:24858000-24858600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr14:24858000-24859200	Enhancers	NHLF	lung
25	chr14:24858000-24860800	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr14:24858200-24858600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr14:24858200-24858600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr14:24858200-24858600	Bivalent Enhancer	HUVEC	blood vessel
29	chr14:24858200-24859000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr14:24858200-24859000	Enhancers	Fetal Muscle Leg	muscle
31	chr14:24858200-24859000	Enhancers	Right Atrium	heart
32	chr14:24858200-24859200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr14:24858200-24859200	Enhancers	NHDF-Ad	bronchial
34	chr14:24858400-24858600	Enhancers	Fetal Muscle Trunk	muscle
35	chr14:24858400-24858800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr14:24858400-24859000	Enhancers	Adipose Nuclei	Adipose
37	chr14:24858400-24859200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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