Variant report

Variant	rs2228232
Chromosome Location	chr14:24845543-24845544
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	chr14:24837386..24841607-chr14:24843315..24846573,5	K562	blood:
5	chr14:24842178..24844027-chr14:24845538..24847290,3	K562	blood:
6	chr14:24842116..24850865-chr14:24857760..24868159,21	MCF-7	breast:

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

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10139343	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs10148620	0.80[YRI][hapmap]
rs13379236	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56240078	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58070256	0.83[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:74 , 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	chr14:24838600-24845600	Weak transcription	Right Atrium	heart
3	chr14:24838600-24846600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr14:24838800-24845600	Weak transcription	Brain Germinal Matrix	brain
5	chr14:24838800-24846000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr14:24838800-24846400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:24838800-24846600	Weak transcription	Duodenum Mucosa	Duodenum
8	chr14:24838800-24847600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr14:24838800-24848000	Weak transcription	Pancreas	Pancrea
10	chr14:24838800-24849600	Weak transcription	Fetal Brain Female	brain
11	chr14:24838800-24850600	Weak transcription	Fetal Kidney	kidney
12	chr14:24839000-24847000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr14:24839600-24846800	Weak transcription	Lung	lung
14	chr14:24839600-24847000	Genic enhancers	Fetal Muscle Leg	muscle
15	chr14:24839800-24847200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr14:24840000-24846600	Strong transcription	Stomach Smooth Muscle	stomach
17	chr14:24840400-24846600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr14:24840800-24847200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:24841000-24847600	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr14:24841600-24847400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr14:24841800-24846000	Strong transcription	Placenta Amnion	Placenta Amnion
22	chr14:24841800-24848400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr14:24842000-24845800	Weak transcription	Left Ventricle	heart
24	chr14:24842000-24846600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:24842000-24847800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr14:24842200-24848200	Strong transcription	NHLF	lung
27	chr14:24842400-24846600	Strong transcription	Fetal Lung	lung
28	chr14:24842600-24847000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr14:24842600-24847200	Strong transcription	Ovary	ovary
30	chr14:24842600-24847600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr14:24842600-24848200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr14:24842600-24848400	Strong transcription	Osteobl	bone
33	chr14:24842600-24852400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr14:24842800-24846400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr14:24843000-24851200	Weak transcription	Adipose Nuclei	Adipose
36	chr14:24843400-24845600	Strong transcription	Fetal Stomach	stomach
37	chr14:24843400-24845600	Strong transcription	Rectal Smooth Muscle	rectum
38	chr14:24843600-24848000	Weak transcription	Aorta	Aorta
39	chr14:24843800-24845600	Strong transcription	Fetal Muscle Trunk	muscle
40	chr14:24844000-24845800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr14:24844200-24845800	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr14:24844200-24845800	Weak transcription	Gastric	stomach
43	chr14:24844200-24846200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr14:24844200-24846400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr14:24844200-24847200	Strong transcription	Spleen	Spleen
46	chr14:24844800-24846600	Genic enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr14:24844800-24846800	Strong transcription	HUVEC	blood vessel
48	chr14:24844800-24848200	Weak transcription	NH-A	brain
49	chr14:24845000-24845600	Bivalent Enhancer	HepG2	liver
50	chr14:24845000-24846200	Flanking Active TSS	Fetal Intestine Large	intestine

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