Variant report

Variant	rs2243891
Chromosome Location	chr14:24846757-24846758
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24845008..24848281-chr14:24897427..24900354,3	K562	blood:
2	chr14:24827418..24850855-chr14:24894884..24913772,127	MCF-7	breast:
3	chr14:24816528..24849574-chr14:24893305..24914155,145	MCF-7	breast:
4	chr14:24846429..24848209-chr14:24910550..24913101,2	K562	blood:
5	chr14:24845983..24848174-chr14:24867034..24869588,2	K562	blood:
6	chr14:24842178..24844027-chr14:24845538..24847290,3	K562	blood:
7	chr14:24844289..24846270-chr14:24846391..24850331,3	MCF-7	breast:
8	chr14:24842116..24850865-chr14:24857760..24868159,21	MCF-7	breast:

No data

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

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10129213	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10141527	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10151147	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11846223	0.82[CHB][hapmap]
rs2144490	0.80[ASW][hapmap];0.82[YRI][hapmap]
rs2332327	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs954134	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[MEX][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

No data

Chromatin state (count:73 , 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	chr14:24838800-24847600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr14:24838800-24848000	Weak transcription	Pancreas	Pancrea
4	chr14:24838800-24849600	Weak transcription	Fetal Brain Female	brain
5	chr14:24838800-24850600	Weak transcription	Fetal Kidney	kidney
6	chr14:24839000-24847000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr14:24839600-24846800	Weak transcription	Lung	lung
8	chr14:24839600-24847000	Genic enhancers	Fetal Muscle Leg	muscle
9	chr14:24839800-24847200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:24840800-24847200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:24841000-24847600	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr14:24841600-24847400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr14:24841800-24848400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr14:24842000-24847800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr14:24842200-24848200	Strong transcription	NHLF	lung
16	chr14:24842600-24847000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr14:24842600-24847200	Strong transcription	Ovary	ovary
18	chr14:24842600-24847600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr14:24842600-24848200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr14:24842600-24848400	Strong transcription	Osteobl	bone
21	chr14:24842600-24852400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr14:24843000-24851200	Weak transcription	Adipose Nuclei	Adipose
23	chr14:24843600-24848000	Weak transcription	Aorta	Aorta
24	chr14:24844200-24847200	Strong transcription	Spleen	Spleen
25	chr14:24844800-24846800	Strong transcription	HUVEC	blood vessel
26	chr14:24844800-24848200	Weak transcription	NH-A	brain
27	chr14:24845000-24847000	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr14:24845200-24847200	Genic enhancers	Placenta	Placenta
29	chr14:24845200-24847200	Genic enhancers	NHDF-Ad	bronchial
30	chr14:24845200-24847800	Enhancers	Fetal Thymus	thymus
31	chr14:24845400-24847000	Enhancers	Primary hematopoietic stem cells	blood
32	chr14:24845400-24847000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr14:24845400-24847400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr14:24845600-24846800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr14:24845600-24847200	Genic enhancers	Fetal Muscle Trunk	muscle
36	chr14:24845600-24847200	Genic enhancers	Fetal Stomach	stomach
37	chr14:24845600-24847200	Enhancers	Right Atrium	heart
38	chr14:24845600-24847400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr14:24845800-24847200	Enhancers	Left Ventricle	heart
40	chr14:24845800-24847800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr14:24846000-24846800	Enhancers	Stomach Mucosa	stomach
42	chr14:24846000-24847200	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr14:24846000-24847200	Enhancers	Right Ventricle	heart
44	chr14:24846200-24847200	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr14:24846200-24847400	Enhancers	H1 Cell Line	embryonic stem cell
46	chr14:24846200-24848200	Enhancers	Placenta Amnion	Placenta Amnion
47	chr14:24846200-24848400	Genic enhancers	Fetal Intestine Small	intestine
48	chr14:24846200-24849000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr14:24846200-24850400	Enhancers	Fetal Intestine Large	intestine
50	chr14:24846400-24846800	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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