Variant report

Variant	rs59483989
Chromosome Location	chr14:65697811-65697812
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65689494..65692237-chr14:65695472..65698101,2	K562	blood:
2	chr14:65694260..65697862-chr14:65826001..65829124,3	MCF-7	breast:
3	chr14:65682951..65699539-chr14:65874873..65882779,51	MCF-7	breast:
4	chr14:65696604..65698657-chr14:65706204..65708336,3	K562	blood:
5	chr14:65685385..65700060-chr14:65874568..65884730,76	MCF-7	breast:
6	chr14:65693679..65698667-chr14:65701405..65705460,7	MCF-7	breast:
7	chr14:65689123..65699940-chr14:65718655..65726829,32	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258878	Chromatin interaction
ENSG00000033170	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1256529	1.00[EUR][1000 genomes]
rs1256532	1.00[EUR][1000 genomes]
rs1256535	1.00[EUR][1000 genomes]
rs1256545	1.00[EUR][1000 genomes]
rs55633216	0.83[AMR][1000 genomes]
rs55791657	1.00[EUR][1000 genomes]
rs58419427	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6573603	1.00[EUR][1000 genomes]
rs7144841	1.00[EUR][1000 genomes]
rs7157687	1.00[EUR][1000 genomes]
rs74056715	1.00[EUR][1000 genomes]
rs74056720	1.00[EUR][1000 genomes]
rs74059004	1.00[AMR][1000 genomes]
rs74059006	1.00[AMR][1000 genomes]
rs74059007	1.00[AMR][1000 genomes]
rs74059011	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74059013	0.83[AMR][1000 genomes]
rs74059017	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74059024	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8004406	1.00[EUR][1000 genomes]
rs8014200	1.00[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	nsv832817	chr14:65637069-65810406	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
2	nsv564933	chr14:65667546-65710580	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65691800-65698600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:65693400-65704200	Weak transcription	Gastric	stomach
3	chr14:65695400-65698800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:65695400-65699000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr14:65696600-65698800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr14:65696800-65703600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr14:65697000-65698800	Enhancers	Placenta	Placenta
8	chr14:65697200-65698000	Weak transcription	Brain Angular Gyrus	brain
9	chr14:65697200-65698000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr14:65697200-65698000	Weak transcription	Small Intestine	intestine
11	chr14:65697200-65698200	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr14:65697200-65698200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr14:65697200-65698400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr14:65697200-65698400	Enhancers	Primary hematopoietic stem cells	blood
15	chr14:65697200-65698400	Weak transcription	Left Ventricle	heart
16	chr14:65697200-65698800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr14:65697200-65698800	Enhancers	Brain Cingulate Gyrus	brain
18	chr14:65697200-65698800	Enhancers	Fetal Lung	lung
19	chr14:65697200-65698800	Enhancers	GM12878-XiMat	blood
20	chr14:65697200-65698800	Enhancers	HMEC	breast
21	chr14:65697200-65699000	Enhancers	Primary B cells from peripheral blood	blood
22	chr14:65697200-65699200	Enhancers	Fetal Intestine Large	intestine
23	chr14:65697200-65699200	Enhancers	Fetal Intestine Small	intestine
24	chr14:65697200-65699200	Enhancers	Stomach Mucosa	stomach
25	chr14:65697200-65703000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr14:65697200-65703200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr14:65697200-65703600	Weak transcription	HSMMtube	muscle
28	chr14:65697200-65704800	Weak transcription	Lung	lung
29	chr14:65697200-65746800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr14:65697400-65698200	Enhancers	Muscle Satellite Cultured Cells	--
31	chr14:65697400-65698200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr14:65697400-65698400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr14:65697400-65698400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr14:65697400-65698400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr14:65697400-65698600	Enhancers	Primary T cells from cord blood	blood
36	chr14:65697400-65698600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr14:65697400-65698600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr14:65697400-65698600	Enhancers	Hela-S3	cervix
39	chr14:65697400-65698800	Enhancers	Primary B cells from cord blood	blood
40	chr14:65697400-65698800	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr14:65697400-65698800	Enhancers	Brain Germinal Matrix	brain
42	chr14:65697400-65698800	Enhancers	Duodenum Mucosa	Duodenum
43	chr14:65697400-65698800	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr14:65697400-65699200	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr14:65697400-65699200	Enhancers	Brain Anterior Caudate	brain
46	chr14:65697400-65699200	Enhancers	Brain Hippocampus Middle	brain
47	chr14:65697400-65703400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr14:65697400-65703400	Weak transcription	NHEK	skin
49	chr14:65697400-65703600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr14:65697400-65703600	Weak transcription	Stomach Smooth Muscle	stomach

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