Variant report

Variant	esv1810592
Chromosome Location	chr14:25346636-25354756
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:25347366..25347980-chr8:125299505..125300432,2	MCF-7	breast:

Extended variants
information (count: 303 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:303 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs854403	chr14:25346636-25346637	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs552830364	chr14:25346658-25346659	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs140094467	chr14:25346767-25346768	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs538447079	chr14:25346783-25346784	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs369233173	chr14:25346788-25346789	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs115442934	chr14:25346792-25346793	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs577677604	chr14:25346817-25346818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543913394	chr14:25346827-25346828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539654367	chr14:25346833-25346834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190696045	chr14:25346934-25346935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534143657	chr14:25346959-25346960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs573955824	chr14:25346996-25346997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12432042	chr14:25347117-25347118	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs560084580	chr14:25347124-25347125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528797995	chr14:25347149-25347150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567509973	chr14:25347204-25347205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs377240938	chr14:25347301-25347302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545576724	chr14:25347360-25347361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368144104	chr14:25347422-25347423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114971112	chr14:25347474-25347475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182704859	chr14:25347485-25347486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1241645	chr14:25347522-25347523	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs187271998	chr14:25347595-25347596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs61976855	chr14:25347596-25347597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567281054	chr14:25347643-25347644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529680227	chr14:25347711-25347712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs74347688	chr14:25347877-25347878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566386072	chr14:25347888-25347889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538557620	chr14:25347931-25347932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538719544	chr14:25347940-25347941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs558299396	chr14:25347947-25347948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs75008120	chr14:25347959-25347960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs77343431	chr14:25348048-25348049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs74867285	chr14:25348049-25348050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs143579023	chr14:25348071-25348072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557411652	chr14:25348176-25348177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554444528	chr14:25348179-25348180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs146801885	chr14:25348210-25348211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs192129314	chr14:25348279-25348280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577327600	chr14:25348284-25348285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs148891621	chr14:25348334-25348335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs74417369	chr14:25348411-25348412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs545736065	chr14:25348470-25348471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565603902	chr14:25348538-25348539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs143609485	chr14:25348562-25348563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573348122	chr14:25348580-25348581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544516979	chr14:25348627-25348628	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs397852933	chr14:25348649-25348650	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs115007317	chr14:25348676-25348677	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs529758618	chr14:25348692-25348693	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Cancer	20164920	CNVD
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Chronic myeloid leukemia	16756668	CNVD
Sudden cardiac death	19188705	CNVD
Pilocytic astrocytoma	18670637	CNVD
Multiple myeloma	16616336	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:177 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25331000-25349800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr14:25331200-25349800	Weak transcription	HSMM	muscle
3	chr14:25342400-25346800	Enhancers	Adipose Nuclei	Adipose
4	chr14:25342800-25351000	Enhancers	Brain Substantia Nigra	brain
5	chr14:25343000-25351200	Enhancers	Brain Cingulate Gyrus	brain
6	chr14:25343200-25349000	Weak transcription	Right Atrium	heart
7	chr14:25343200-25349600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr14:25343800-25347600	Enhancers	Brain Angular Gyrus	brain
9	chr14:25344000-25351000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr14:25344200-25346800	Enhancers	Fetal Lung	lung
11	chr14:25344400-25348800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr14:25344400-25349000	Weak transcription	Left Ventricle	heart
13	chr14:25344400-25349000	Weak transcription	Lung	lung
14	chr14:25344600-25354200	Weak transcription	Fetal Intestine Large	intestine
15	chr14:25344800-25349400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr14:25344800-25349600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr14:25345200-25348800	Weak transcription	Fetal Heart	heart
18	chr14:25345200-25349200	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr14:25345400-25347000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr14:25345400-25349400	Weak transcription	NHDF-Ad	bronchial
21	chr14:25345600-25349000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr14:25345800-25346800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr14:25345800-25349000	Weak transcription	Pancreas	Pancrea
24	chr14:25345800-25349000	Weak transcription	Right Ventricle	heart
25	chr14:25345800-25349600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr14:25346000-25347000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr14:25346000-25349000	Weak transcription	Fetal Muscle Leg	muscle
28	chr14:25346000-25349000	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr14:25346000-25358000	Weak transcription	Fetal Intestine Small	intestine
30	chr14:25346200-25346800	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr14:25346200-25347600	Enhancers	Brain Hippocampus Middle	brain
32	chr14:25346200-25348800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr14:25346200-25349200	Weak transcription	Colon Smooth Muscle	Colon
34	chr14:25346200-25350400	Weak transcription	Stomach Mucosa	stomach
35	chr14:25346200-25351200	Enhancers	Brain Anterior Caudate	brain
36	chr14:25346400-25346800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr14:25346400-25347000	Weak transcription	Rectal Smooth Muscle	rectum
38	chr14:25346400-25347000	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr14:25346400-25348800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr14:25346400-25348800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr14:25346400-25350400	Weak transcription	Fetal Stomach	stomach
42	chr14:25346600-25346800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
43	chr14:25346600-25347800	Weak transcription	HepG2	liver
44	chr14:25346800-25347000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr14:25346800-25348000	Weak transcription	Adipose Nuclei	Adipose
46	chr14:25346800-25349600	Weak transcription	Fetal Lung	lung
47	chr14:25346800-25350400	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr14:25347000-25347200	Enhancers	Rectal Smooth Muscle	rectum
49	chr14:25347000-25349000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr14:25347000-25349000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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