Variant report

Variant	nsv901697
Chromosome Location	chr14:41364951-41400905
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:41377936..41380382-chr14:41413256..41415527,2	MCF-7	breast:
2	chr14:41383629..41385317-chr14:41390343..41392614,2	K562	blood:
3	chr14:41383629..41385317-chr14:41390343..41392614,2	K562	blood:

Extended variants
information (count: 130 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532799395	chr14:41379217-41379218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs551030639	chr14:41379220-41379221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540764250	chr14:41379235-41379236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561065630	chr14:41379248-41379249	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182589766	chr14:41379264-41379265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186905542	chr14:41379292-41379293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192114021	chr14:41379307-41379308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549082624	chr14:41379320-41379321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567332770	chr14:41379323-41379324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534731532	chr14:41379326-41379327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs117712594	chr14:41379395-41379396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs66463734	chr14:41379397-41379398	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs544443241	chr14:41380212-41380213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143142034	chr14:41380269-41380270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545691323	chr14:41380274-41380275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs375655499	chr14:41380284-41380285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146676146	chr14:41380286-41380287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542551999	chr14:41380294-41380295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560860692	chr14:41380298-41380299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs115862006	chr14:41380307-41380308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565558530	chr14:41380326-41380327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564865358	chr14:41380366-41380367	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532250049	chr14:41380381-41380382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs78057151	chr14:41380398-41380399	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140188698	chr14:41380429-41380430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568719073	chr14:41380466-41380467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs150310735	chr14:41380529-41380530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs548124275	chr14:41380543-41380544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569247705	chr14:41387811-41387812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558117761	chr14:41387830-41387831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570157212	chr14:41387838-41387839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs144909820	chr14:41387950-41387951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373536897	chr14:41387987-41387988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190212832	chr14:41388016-41388017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574461779	chr14:41388046-41388047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541978481	chr14:41388047-41388048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553689317	chr14:41388066-41388067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572265292	chr14:41388106-41388107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1530697	chr14:41388129-41388130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574926175	chr14:41388140-41388141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs183205063	chr14:41388166-41388167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs530162910	chr14:41388196-41388197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs556540099	chr14:41388248-41388249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531770406	chr14:41388276-41388277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543920195	chr14:41388284-41388285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562180263	chr14:41388296-41388297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35106976	chr14:41388309-41388310	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs140389643	chr14:41388333-41388334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565483530	chr14:41388337-41388338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs566180161	chr14:41388341-41388342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	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
Schizophrenia	23813976	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41379200-41379400	Enhancers	Gastric	stomach
2	chr14:41380200-41380600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:41387800-41390600	Weak transcription	Psoas Muscle	Psoas

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