Variant report

Variant	esv2757573
Chromosome Location	chr14:72802736-72819684
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:72794559..72797059-chr14:72803417..72805844,2	MCF-7	breast:
2	chr14:72800415..72803046-chr14:72803047..72804639,2	MCF-7	breast:
3	chr14:72800415..72803046-chr14:72803047..72804639,2	MCF-7	breast:
4	chr14:72806003..72809528-chr14:72813549..72815955,3	MCF-7	breast:
5	chr14:72806003..72809528-chr14:72813549..72815955,3	MCF-7	breast:

Extended variants
information (count: 784 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:784 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1520331	chr14:72802736-72802737	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs72724035	chr14:72802768-72802769	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs370146323	chr14:72802815-72802816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs77031552	chr14:72802837-72802838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12885949	chr14:72802871-72802872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146835763	chr14:72802872-72802873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs541910416	chr14:72802876-72802877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560260548	chr14:72802888-72802889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184002256	chr14:72802892-72802893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552046693	chr14:72802911-72802912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs564146787	chr14:72802956-72802957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1402064	chr14:72802959-72802960	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs550078728	chr14:72802981-72802982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568050087	chr14:72803017-72803018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537562240	chr14:72803060-72803061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535486915	chr14:72803061-72803062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553803326	chr14:72803082-72803083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs78561301	chr14:72803100-72803101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539533971	chr14:72803107-72803108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558854751	chr14:72803113-72803114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140720237	chr14:72803131-72803132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs1402063	chr14:72803167-72803168	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs17110904	chr14:72803168-72803169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556479097	chr14:72803211-72803212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs35115421	chr14:72803221-72803222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs386778706	chr14:72803236-72803237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs199688664	chr14:72803240-72803241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2529475	chr14:72803242-72803243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560125438	chr14:72803243-72803244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs373875232	chr14:72803246-72803247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs145874265	chr14:72803247-72803248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370352231	chr14:72803264-72803265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138534612	chr14:72803294-72803295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531238832	chr14:72803315-72803316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs550093253	chr14:72803321-72803322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs374841643	chr14:72803324-72803325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs149240481	chr14:72803407-72803408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs2250666	chr14:72803408-72803409	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs187633503	chr14:72803446-72803447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs2283390	chr14:72803482-72803483	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs539138484	chr14:72803525-72803526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs551487053	chr14:72803533-72803534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs117342233	chr14:72803568-72803569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538477980	chr14:72803570-72803571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs75106348	chr14:72803575-72803576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs574752159	chr14:72803648-72803649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs143511131	chr14:72803689-72803690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs2283389	chr14:72803694-72803695	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs2250557	chr14:72803788-72803789	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs566282820	chr14:72803790-72803791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
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
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
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	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
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Hepatocellular carcinoma	16750200	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
head and neck squamous cell carcinoma	24351288	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72797600-72804800	Enhancers	Fetal Lung	lung
2	chr14:72799200-72804200	Weak transcription	Spleen	Spleen
3	chr14:72801000-72803000	Weak transcription	Fetal Stomach	stomach
4	chr14:72801000-72807400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr14:72801400-72803800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr14:72801600-72802800	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr14:72803000-72803600	Enhancers	Fetal Stomach	stomach
8	chr14:72804200-72804400	Enhancers	Spleen	Spleen
9	chr14:72804400-72808000	Weak transcription	Spleen	Spleen
10	chr14:72804800-72807000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr14:72807000-72809200	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr14:72807400-72808800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr14:72808000-72808400	Enhancers	Ovary	ovary
14	chr14:72808000-72809800	Enhancers	Spleen	Spleen
15	chr14:72808200-72809000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr14:72808800-72809000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr14:72809000-72809600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr14:72809200-72810200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
19	chr14:72809600-72810400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr14:72809800-72810400	Weak transcription	Spleen	Spleen
21	chr14:72810200-72814800	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr14:72810400-72812600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr14:72811600-72811800	Enhancers	Spleen	Spleen
24	chr14:72812600-72814200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr14:72814200-72818600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr14:72814800-72818400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr14:72818400-72824200	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr14:72818600-72824000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr14:72819400-72822000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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