Variant report

Variant	rs56240078
Chromosome Location	chr14:24847735-24847736
allele	C/G
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24845008..24848281-chr14:24897427..24900354,3	K562	blood:
2	chr14:24847163..24849658-chr14:24851937..24853825,2	K562	blood:
3	chr14:24827418..24850855-chr14:24894884..24913772,127	MCF-7	breast:
4	chr14:24816528..24849574-chr14:24893305..24914155,145	MCF-7	breast:
5	chr14:24846429..24848209-chr14:24910550..24913101,2	K562	blood:
6	chr14:24845983..24848174-chr14:24867034..24869588,2	K562	blood:
7	chr14:24834750..24838595-chr14:24847271..24849265,3	K562	blood:
8	chr14:24846954..24848829-chr14:24870424..24872056,2	K562	blood:
9	chr14:24846831..24848567-chr14:24880238..24882282,2	MCF-7	breast:
10	chr14:24803819..24806463-chr14:24847072..24848641,2	MCF-7	breast:
11	chr14:24844289..24846270-chr14:24846391..24850331,3	MCF-7	breast:
12	chr14:24842116..24850865-chr14:24857760..24868159,21	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000139899	Chromatin interaction
ENSG00000129467	Chromatin interaction
ENSG00000205978	Chromatin interaction
ENSG00000100968	Chromatin interaction
ENSG00000100445	Chromatin interaction
ENSG00000100441	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10139343	0.91[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs13379236	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2228232	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58070256	0.85[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:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24838200-24850200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:24838800-24848000	Weak transcription	Pancreas	Pancrea
3	chr14:24838800-24849600	Weak transcription	Fetal Brain Female	brain
4	chr14:24838800-24850600	Weak transcription	Fetal Kidney	kidney
5	chr14:24841800-24848400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr14:24842000-24847800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr14:24842200-24848200	Strong transcription	NHLF	lung
8	chr14:24842600-24848200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr14:24842600-24848400	Strong transcription	Osteobl	bone
10	chr14:24842600-24852400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr14:24843000-24851200	Weak transcription	Adipose Nuclei	Adipose
12	chr14:24843600-24848000	Weak transcription	Aorta	Aorta
13	chr14:24844800-24848200	Weak transcription	NH-A	brain
14	chr14:24845200-24847800	Enhancers	Fetal Thymus	thymus
15	chr14:24845800-24847800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr14:24846200-24848200	Enhancers	Placenta Amnion	Placenta Amnion
17	chr14:24846200-24848400	Genic enhancers	Fetal Intestine Small	intestine
18	chr14:24846200-24849000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr14:24846200-24850400	Enhancers	Fetal Intestine Large	intestine
20	chr14:24846400-24848200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr14:24846400-24849200	Enhancers	Esophagus	oesophagus
22	chr14:24846600-24848600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr14:24846600-24849800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr14:24846600-24849800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr14:24846600-24850000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:24846600-24850800	Weak transcription	Fetal Lung	lung
27	chr14:24846800-24848200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr14:24846800-24849400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr14:24846800-24851000	Weak transcription	HUVEC	blood vessel
30	chr14:24847000-24847800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr14:24847000-24848400	Strong transcription	Fetal Muscle Leg	muscle
32	chr14:24847000-24849400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr14:24847000-24850200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr14:24847000-24859600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr14:24847200-24847800	Strong transcription	Fetal Muscle Trunk	muscle
36	chr14:24847200-24848400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr14:24847200-24848400	Strong transcription	Fetal Stomach	stomach
38	chr14:24847200-24848600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr14:24847200-24848600	Strong transcription	Stomach Smooth Muscle	stomach
40	chr14:24847200-24848800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:24847200-24849000	Weak transcription	Duodenum Mucosa	Duodenum
42	chr14:24847200-24849600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr14:24847200-24849800	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr14:24847200-24850400	Weak transcription	Placenta	Placenta
45	chr14:24847200-24850800	Weak transcription	Spleen	Spleen
46	chr14:24847200-24850800	Weak transcription	NHDF-Ad	bronchial
47	chr14:24847200-24857600	Weak transcription	Ovary	ovary
48	chr14:24847400-24847800	Enhancers	K562	blood
49	chr14:24847400-24848800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr14:24847400-24848800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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