Variant report

Variant	rs954134
Chromosome Location	chr14:24858823-24858824
allele	C/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	chr14:24852229..24853960-chr14:24857056..24859882,4	K562	blood:
3	chr14:24833959..24838686-chr14:24858666..24863221,13	MCF-7	breast:
4	chr14:24820952..24822778-chr14:24858801..24861565,2	MCF-7	breast:
5	chr14:24858024..24859988-chr14:24904302..24906750,2	K562	blood:
6	chr14:24857849..24868599-chr14:24892485..24903992,27	MCF-7	breast:
7	chr14:24842752..24851075-chr14:24856697..24867572,25	MCF-7	breast:
8	chr14:24848975..24851488-chr14:24857640..24859288,2	K562	blood:
9	chr14:24709900..24711561-chr14:24858223..24860147,2	MCF-7	breast:
10	chr14:24842116..24850865-chr14:24857760..24868159,21	MCF-7	breast:
11	chr14:24839870..24842744-chr14:24857237..24859183,2	K562	blood:
12	chr14:24858574..24860356-chr14:24867441..24869639,2	K562	blood:
13	chr14:24852725..24854755-chr14:24857683..24859392,2	MCF-7	breast:

No data

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

Extended variants
information (count: 10 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10129213	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10141527	0.92[ASN][1000 genomes]
rs10151147	0.91[ASN][1000 genomes]
rs1124644	0.90[MEX][hapmap]
rs11846223	0.82[CHB][hapmap]
rs2243891	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.92[ASN][1000 genomes]
rs2332327	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs982975	0.82[CHB][hapmap]

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

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs954134	OXA1L	cis	parietal	SCAN
rs954134	CHD8	cis	cerebellum	SCAN
rs954134	OR10G3	cis	cerebellum	SCAN
rs954134	SALL2	cis	cerebellum	SCAN
rs954134	LTB4R2	cis	cerebellum	SCAN
rs954134	NYNRIN	cis	parietal	SCAN

Chromatin state (count:35 , 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	chr14:24857400-24859000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr14:24857400-24859000	Bivalent Enhancer	HepG2	liver
11	chr14:24857400-24859000	Enhancers	K562	blood
12	chr14:24857600-24859000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr14:24857600-24859200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr14:24857600-24859800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr14:24857800-24859000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr14:24857800-24859000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr14:24857800-24859000	Enhancers	Placenta Amnion	Placenta Amnion
18	chr14:24857800-24859200	Enhancers	Fetal Stomach	stomach
19	chr14:24857800-24860400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr14:24858000-24859200	Enhancers	NHLF	lung
21	chr14:24858000-24860800	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr14:24858200-24859000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr14:24858200-24859000	Enhancers	Fetal Muscle Leg	muscle
24	chr14:24858200-24859000	Enhancers	Right Atrium	heart
25	chr14:24858200-24859200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr14:24858200-24859200	Enhancers	NHDF-Ad	bronchial
27	chr14:24858400-24859000	Enhancers	Adipose Nuclei	Adipose
28	chr14:24858400-24859200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr14:24858600-24859200	Enhancers	Lung	lung
30	chr14:24858600-24859200	Enhancers	Osteobl	bone
31	chr14:24858600-24861400	Enhancers	HUVEC	blood vessel
32	chr14:24858800-24859000	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr14:24858800-24860400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr14:24858800-24860400	Weak transcription	Fetal Lung	lung
35	chr14:24858800-24862200	Enhancers	Primary hematopoietic stem cells	blood

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