Variant report

Variant	esv3527040
Chromosome Location	chr14:24264786-24272090
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	chr14:24254560..24256310-chr14:24265121..24267861,2	MCF-7	breast:

Extended variants
information (count: 109 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561798772	chr14:24268416-24268417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs183000634	chr14:24268443-24268444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573741488	chr14:24268630-24268631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542344598	chr14:24268641-24268642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs77153770	chr14:24268659-24268660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544840219	chr14:24268710-24268711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572819000	chr14:24268780-24268781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs545011896	chr14:24268824-24268825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188523800	chr14:24268839-24268840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531275106	chr14:24268869-24268870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs544917226	chr14:24268900-24268901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192745474	chr14:24269025-24269026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184690238	chr14:24269026-24269027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545420322	chr14:24269037-24269038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs560655520	chr14:24269041-24269042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs8012738	chr14:24269106-24269107	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs552549182	chr14:24269168-24269169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs71119049	chr14:24269170-24269171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569150870	chr14:24269191-24269192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs17256602	chr14:24269211-24269212	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs550441786	chr14:24269247-24269248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548950439	chr14:24269252-24269253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567160791	chr14:24269370-24269371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs74038870	chr14:24269378-24269379	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs552866017	chr14:24269396-24269397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs572898246	chr14:24269397-24269398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114601042	chr14:24269443-24269444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558569477	chr14:24269450-24269451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs145324445	chr14:24269537-24269538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs4981484	chr14:24269591-24269592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544953976	chr14:24269610-24269611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561581277	chr14:24269611-24269612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs17097572	chr14:24269696-24269697	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs111515967	chr14:24269729-24269730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373211410	chr14:24269737-24269738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs61977210	chr14:24269746-24269747	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs376145965	chr14:24269769-24269770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs532682289	chr14:24269802-24269803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552389976	chr14:24269878-24269879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562930399	chr14:24269893-24269894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543655232	chr14:24269934-24269935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531584084	chr14:24269937-24269938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377157594	chr14:24269942-24269943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567246612	chr14:24269946-24269947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563402541	chr14:24269953-24269954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568997256	chr14:24269989-24269990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76105444	chr14:24269992-24269993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566545942	chr14:24270000-24270001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs74038873	chr14:24270014-24270015	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs192792811	chr14:24270018-24270019	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17440070	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

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24268400-24269800	Enhancers	Placenta Amnion	Placenta Amnion
2	chr14:24268600-24269000	Enhancers	HSMM	muscle
3	chr14:24268600-24269000	Enhancers	HSMMtube	muscle
4	chr14:24269800-24270000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr14:24270000-24270400	Enhancers	Placenta Amnion	Placenta Amnion
6	chr14:24270400-24271200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr14:24271200-24272200	Enhancers	Placenta Amnion	Placenta Amnion

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