Variant report

Variant	nsv565331
Chromosome Location	chr14:83176692-83228383
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:83192387..83194148-chr14:83198757..83201171,2	K562	blood:
2	chr14:83176665..83177254-chr14:86523440..86523991,2	MCF-7	breast:
3	chr14:83176300..83176864-chr14:83537974..83538513,2	MCF-7	breast:
4	chr14:83176444..83177428-chr14:86521944..86522598,2	MCF-7	breast:
5	chr14:83176690..83177254-chr14:86521578..86522506,2	MCF-7	breast:
6	chr14:83176409..83177253-chr14:83537916..83538885,7	MCF-7	breast:
7	chr14:83192387..83194148-chr14:83198757..83201171,2	K562	blood:

Extended variants
information (count: 983 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:983 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531926275	chr14:83181011-83181012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544082553	chr14:83181045-83181046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs144162728	chr14:83181047-83181048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565396477	chr14:83181093-83181094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532539934	chr14:83181152-83181153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs111655637	chr14:83181170-83181171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547441868	chr14:83181206-83181207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371302590	chr14:83181230-83181231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559834186	chr14:83181255-83181256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs370785581	chr14:83181267-83181268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs77779752	chr14:83181277-83181278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs368387279	chr14:83181283-83181284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567459391	chr14:83181289-83181290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146477115	chr14:83181324-83181325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs550054044	chr14:83181325-83181326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75193507	chr14:83181358-83181359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556291613	chr14:83181383-83181384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553471901	chr14:83181388-83181389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569484182	chr14:83185603-83185604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540124280	chr14:83185673-83185674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs17117208	chr14:83185699-83185700	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs566537045	chr14:83185727-83185728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs78527760	chr14:83185743-83185744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs76533290	chr14:83185746-83185747	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs187230727	chr14:83185795-83185796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs535326240	chr14:83185838-83185839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561940343	chr14:83185845-83185846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557098962	chr14:83185848-83185849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs1152346	chr14:83185849-83185850	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs150608157	chr14:83185873-83185874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546067459	chr14:83185894-83185895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557723461	chr14:83185896-83185897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573786999	chr14:83185956-83185957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs572876956	chr14:83185962-83185963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540206025	chr14:83186009-83186010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs561782445	chr14:83186032-83186033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs10144313	chr14:83186097-83186098	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs544506666	chr14:83186122-83186123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191888617	chr14:83186131-83186132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs142625295	chr14:83186143-83186144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs562979979	chr14:83186149-83186150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs10132350	chr14:83186205-83186206	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs59260432	chr14:83186206-83186207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs10132351	chr14:83186208-83186209	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs372296262	chr14:83186249-83186250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548952582	chr14:83186272-83186273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs149716700	chr14:83186273-83186274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560510158	chr14:83186281-83186282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs80180677	chr14:83186282-83186283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs113558476	chr14:83186283-83186284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
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
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
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:83181000-83181400	Enhancers	Ovary	ovary
2	chr14:83185600-83186200	Enhancers	Aorta	Aorta
3	chr14:83186000-83187400	Enhancers	Stomach Smooth Muscle	stomach
4	chr14:83186200-83186600	Weak transcription	Aorta	Aorta
5	chr14:83186600-83187800	Enhancers	Aorta	Aorta
6	chr14:83186800-83187000	Enhancers	Fetal Lung	lung
7	chr14:83186800-83187200	Enhancers	Gastric	stomach
8	chr14:83186800-83187200	Enhancers	Lung	lung
9	chr14:83186800-83187200	Enhancers	NHDF-Ad	bronchial
10	chr14:83186800-83187600	Enhancers	Colon Smooth Muscle	Colon
11	chr14:83186800-83187600	Enhancers	Esophagus	oesophagus
12	chr14:83186800-83187600	Enhancers	Fetal Muscle Leg	muscle
13	chr14:83186800-83187600	Enhancers	Rectal Smooth Muscle	rectum
14	chr14:83186800-83187800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr14:83187000-83187200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr14:83187000-83187800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr14:83187000-83187800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr14:83187200-83187600	Enhancers	Brain Anterior Caudate	brain
19	chr14:83187200-83191000	Weak transcription	Lung	lung
20	chr14:83187200-83191000	Weak transcription	NHDF-Ad	bronchial
21	chr14:83187400-83187600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr14:83187400-83187600	Flanking Active TSS	Stomach Smooth Muscle	stomach
23	chr14:83187400-83191200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr14:83187600-83187800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr14:83187600-83187800	Active TSS	Stomach Smooth Muscle	stomach
26	chr14:83187600-83191200	Weak transcription	Esophagus	oesophagus
27	chr14:83187600-83191200	Weak transcription	Ovary	ovary
28	chr14:83187800-83191200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr14:83190600-83192000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr14:83191000-83191400	Enhancers	Brain Germinal Matrix	brain
31	chr14:83191000-83191400	Enhancers	Right Atrium	heart
32	chr14:83191000-83191400	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr14:83191000-83191600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr14:83191000-83191600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr14:83191000-83191600	Enhancers	Fetal Brain Male	brain
36	chr14:83191000-83191600	Active TSS	Fetal Kidney	kidney
37	chr14:83191000-83191600	Enhancers	Gastric	stomach
38	chr14:83191000-83191600	Enhancers	Left Ventricle	heart
39	chr14:83191000-83191600	ZNF genes & repeats	Lung	lung
40	chr14:83191000-83191600	Enhancers	Pancreas	Pancrea
41	chr14:83191000-83191600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
42	chr14:83191000-83191600	Enhancers	Hela-S3	cervix
43	chr14:83191000-83191600	Enhancers	NHDF-Ad	bronchial
44	chr14:83191000-83191800	Enhancers	Right Ventricle	heart
45	chr14:83191200-83191600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr14:83191200-83191600	Enhancers	Esophagus	oesophagus
47	chr14:83191200-83191600	Enhancers	Ovary	ovary
48	chr14:83191200-83191600	Enhancers	NH-A	brain
49	chr14:83191200-83191800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
50	chr14:83191200-83191800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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