Variant report

Variant	nsv564747
Chromosome Location	chr14:46807798-46836326
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:46719211..46719811-chr14:46813566..46814094,2	MCF-7	breast:
2	chr14:46718996..46719973-chr14:46813315..46814211,4	MCF-7	breast:
3	chr14:46517075..46517958-chr14:46813262..46814074,4	MCF-7	breast:

Extended variants
information (count: 183 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:183 , 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	rs572223912	chr14:46813075-46813076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190736589	chr14:46813088-46813089	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs146046821	chr14:46813089-46813090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531582381	chr14:46813093-46813094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs549857576	chr14:46813105-46813106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561778630	chr14:46813109-46813110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528861536	chr14:46813146-46813147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs72670527	chr14:46813182-46813183	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs114102156	chr14:46813215-46813216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs368532187	chr14:46813235-46813236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs534215976	chr14:46813242-46813243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552877470	chr14:46813270-46813271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542971132	chr14:46813330-46813331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113482604	chr14:46813336-46813337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538058065	chr14:46813375-46813376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563865161	chr14:46813392-46813393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374536431	chr14:46813393-46813394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556205404	chr14:46813457-46813458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574613367	chr14:46813521-46813522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368495680	chr14:46813524-46813525	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200106734	chr14:46813578-46813579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566652350	chr14:46813584-46813585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538443003	chr14:46813593-46813594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs182090576	chr14:46813629-46813630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs144171394	chr14:46813791-46813792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs371822280	chr14:46813817-46813818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs376605466	chr14:46813823-46813824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533845751	chr14:46813855-46813856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543660099	chr14:46813861-46813862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs368994245	chr14:46813867-46813868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs4424814	chr14:46813895-46813896	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs567257486	chr14:46813954-46813955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559081499	chr14:46813978-46813979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs576242838	chr14:46814882-46814883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538462543	chr14:46814906-46814907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573837122	chr14:46814911-46814912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs541234727	chr14:46814917-46814918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs574339209	chr14:46814919-46814920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552764169	chr14:46814924-46814925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577645543	chr14:46814984-46814985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558293537	chr14:46814996-46814997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562935238	chr14:46814997-46814998	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530471596	chr14:46815045-46815046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs145523689	chr14:46815060-46815061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182421633	chr14:46815079-46815080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs374085477	chr14:46815096-46815097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs568619584	chr14:46815104-46815105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547994762	chr14:46815148-46815149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141180818	chr14:46815243-46815244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs572228252	chr14:46815252-46815253	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	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
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	19907438	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:46813000-46814000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr14:46813600-46814000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr14:46814800-46815800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:46818800-46821200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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