Variant report

Variant	esv3527118
Chromosome Location	chr14:25260312-25264710
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	chr14:25257418..25259625-chr14:25262130..25263668,2	MCF-7	breast:

Extended variants
information (count: 171 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:171 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199601524	chr14:25260320-25260321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550694209	chr14:25260398-25260399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs189156755	chr14:25260419-25260420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181689005	chr14:25260482-25260483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186036879	chr14:25260498-25260499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs76684593	chr14:25260505-25260506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs854360	chr14:25260507-25260508	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs558149793	chr14:25260528-25260529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7160280	chr14:25260530-25260531	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs565620764	chr14:25260533-25260534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543865313	chr14:25260562-25260563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142934603	chr14:25260563-25260564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574314785	chr14:25260599-25260600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11852226	chr14:25260662-25260663	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs559898086	chr14:25260665-25260666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567236168	chr14:25260670-25260671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs201815996	chr14:25260671-25260672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528143599	chr14:25260673-25260674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs72681086	chr14:25260740-25260741	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs146133943	chr14:25260770-25260771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530424207	chr14:25260771-25260772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191590017	chr14:25260789-25260790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs11848315	chr14:25260790-25260791	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs113263287	chr14:25260815-25260816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs546450444	chr14:25260840-25260841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs854361	chr14:25260880-25260881	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs370790507	chr14:25260903-25260904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs854362	chr14:25260922-25260923	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs854363	chr14:25261017-25261018	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs186105718	chr14:25261020-25261021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs140073357	chr14:25261026-25261027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375197309	chr14:25261109-25261110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557399718	chr14:25261134-25261135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574202174	chr14:25261166-25261167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190631288	chr14:25261178-25261179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76592493	chr14:25261189-25261190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374787895	chr14:25261241-25261242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573366940	chr14:25261247-25261248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537490423	chr14:25261291-25261292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545246418	chr14:25261292-25261293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370091455	chr14:25261346-25261347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564631039	chr14:25261410-25261411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76329275	chr14:25261413-25261414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs854364	chr14:25261422-25261423	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs183346529	chr14:25261463-25261464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529913101	chr14:25261488-25261489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73589776	chr14:25261494-25261495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs186372360	chr14:25261498-25261499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201126703	chr14:25261525-25261526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs151236447	chr14:25261541-25261542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25255400-25261800	Enhancers	Fetal Lung	lung
2	chr14:25259000-25263800	Weak transcription	Fetal Brain Male	brain
3	chr14:25259200-25261600	Weak transcription	Fetal Muscle Leg	muscle
4	chr14:25260800-25261800	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr14:25261600-25261800	Enhancers	Fetal Muscle Leg	muscle
6	chr14:25261800-25264400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr14:25261800-25268200	Weak transcription	Fetal Lung	lung
8	chr14:25262400-25263400	Bivalent Enhancer	HepG2	liver
9	chr14:25263800-25264600	Enhancers	Fetal Brain Male	brain
10	chr14:25264400-25264600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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