Variant report

Variant	esv3352543
Chromosome Location	chr14:43484251-43509478
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:43489558..43491070-chr14:43492844..43494877,2	MCF-7	breast:
2	chr14:43487775..43490342-chr14:43492170..43494147,2	MCF-7	breast:
3	chr14:43482810..43484883-chr14:43487096..43489286,2	MCF-7	breast:
4	chr14:43482810..43484883-chr14:43487096..43489286,2	MCF-7	breast:
5	chr14:43489558..43491070-chr14:43492844..43494877,2	MCF-7	breast:
6	chr14:43508464..43512451-chr14:43512636..43516072,3	MCF-7	breast:
7	chr14:43488671..43489539-chr14:43933950..43934498,2	MCF-7	breast:
8	chr14:43487775..43490342-chr14:43492170..43494147,2	MCF-7	breast:
9	chr14:43485354..43487557-chr14:44249590..44251504,2	MCF-7	breast:
10	chr14:43488710..43489609-chr14:44233482..44234148,2	MCF-7	breast:

No data

Extended variants
information (count: 451 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:451 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567285399	chr14:43495434-43495435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs371831554	chr14:43495441-43495442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs529462946	chr14:43495484-43495485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549595226	chr14:43495498-43495499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs77022785	chr14:43495517-43495518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs77397002	chr14:43495566-43495567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539384417	chr14:43495575-43495576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369640593	chr14:43495598-43495599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185461203	chr14:43495600-43495601	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532426488	chr14:43495635-43495636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569885122	chr14:43495650-43495651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537105982	chr14:43495728-43495729	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555510714	chr14:43495779-43495780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573034605	chr14:43498251-43498252	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534566328	chr14:43498269-43498270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73335673	chr14:43498299-43498300	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs76757214	chr14:43498301-43498302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111696168	chr14:43498348-43498349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576634567	chr14:43498350-43498351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182597744	chr14:43498361-43498362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528809834	chr14:43498367-43498368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369910589	chr14:43498461-43498462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556098130	chr14:43498491-43498492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs78515206	chr14:43498505-43498506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540723955	chr14:43498550-43498551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143406717	chr14:43498571-43498572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188368329	chr14:43498617-43498618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375735765	chr14:43498630-43498631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs190714003	chr14:43498650-43498651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552845229	chr14:43498669-43498670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571011786	chr14:43498785-43498786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538438589	chr14:43498786-43498787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529822640	chr14:43498811-43498812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73335677	chr14:43498826-43498827	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs535975671	chr14:43498844-43498845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148375489	chr14:43498932-43498933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572418049	chr14:43498993-43498994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551673346	chr14:43499033-43499034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370831310	chr14:43499039-43499040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183007885	chr14:43499041-43499042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73330466	chr14:43499059-43499060	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs375901182	chr14:43499094-43499095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188759188	chr14:43499158-43499159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562376549	chr14:43499159-43499160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574172628	chr14:43499162-43499163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs193256259	chr14:43499194-43499195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559854654	chr14:43499201-43499202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs140465809	chr14:43499218-43499219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs145644628	chr14:43499298-43499299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184379550	chr14:43499323-43499324	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Colorectal cancer	16774939	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
Endometrioid adenocarcinoma	16974079	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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:43495400-43495800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr14:43498200-43498400	Enhancers	A549	lung
3	chr14:43498400-43499200	Weak transcription	A549	lung
4	chr14:43499200-43500400	Enhancers	A549	lung
5	chr14:43500400-43500800	Flanking Active TSS	A549	lung
6	chr14:43500800-43501800	Weak transcription	A549	lung
7	chr14:43501800-43502600	Enhancers	A549	lung
8	chr14:43502600-43503000	Weak transcription	A549	lung
9	chr14:43503000-43505000	Enhancers	A549	lung
10	chr14:43505000-43506200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr14:43505400-43506000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr14:43506000-43511200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr14:43506200-43511000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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