Variant report

Variant	nsv902151
Chromosome Location	chr14:83673387-83746190
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:83730856..83733310-chr14:83737352..83738858,2	K562	blood:
2	chr14:83686532..83688792-chr14:83690637..83692393,2	K562	blood:
3	chr14:83686532..83688792-chr14:83690637..83692393,2	K562	blood:
4	chr14:83730856..83733310-chr14:83737352..83738858,2	K562	blood:

Extended variants
information (count: 1555 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:1555 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144424218	chr14:83674015-83674016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs373807190	chr14:83674049-83674050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187284262	chr14:83674068-83674069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577132116	chr14:83674093-83674094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148408984	chr14:83674097-83674098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553623733	chr14:83674153-83674154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs74829215	chr14:83674173-83674174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542392190	chr14:83674180-83674181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78966903	chr14:83674184-83674185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575664896	chr14:83674192-83674193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs116886244	chr14:83674233-83674234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs377313260	chr14:83674235-83674236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564432701	chr14:83674297-83674298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142951437	chr14:83674320-83674321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547754370	chr14:83674367-83674368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs369945959	chr14:83674373-83674374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs190334151	chr14:83674374-83674375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559582803	chr14:83674391-83674392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542291679	chr14:83674415-83674416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs529878090	chr14:83674422-83674423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560620347	chr14:83674433-83674434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs367864780	chr14:83674440-83674441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113213968	chr14:83674451-83674452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs202004201	chr14:83674457-83674458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs57338834	chr14:83674461-83674462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373924104	chr14:83674462-83674463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs376243404	chr14:83674463-83674464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370660794	chr14:83674466-83674467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551761868	chr14:83674472-83674473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570161583	chr14:83674481-83674482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528091198	chr14:83674486-83674487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs150690176	chr14:83674496-83674497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540183036	chr14:83674523-83674524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565033785	chr14:83674525-83674526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183977030	chr14:83674537-83674538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs535690358	chr14:83674559-83674560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs35842715	chr14:83674576-83674577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557495127	chr14:83674598-83674599	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs140204858	chr14:83674603-83674604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546272294	chr14:83674766-83674767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564563820	chr14:83674898-83674899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs17622311	chr14:83674915-83674916	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs540611027	chr14:83674953-83674954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs115730935	chr14:83674958-83674959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs117911864	chr14:83674976-83674977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548094431	chr14:83674999-83675000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182832345	chr14:83675011-83675012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188706427	chr14:83675020-83675021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551892005	chr14:83675098-83675099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs533431662	chr14:83675110-83675111	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:83674000-83675000	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr14:83674000-83675200	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr14:83674400-83675000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr14:83674400-83675400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr14:83674800-83675000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:83675400-83676800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr14:83676800-83677000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr14:83683200-83685000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr14:83683400-83684000	Enhancers	Adipose Nuclei	Adipose
10	chr14:83683400-83684600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr14:83683600-83685000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr14:83684000-83684600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr14:83684200-83684600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr14:83685000-83686200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr14:83685800-83686800	Enhancers	Placenta Amnion	Placenta Amnion
16	chr14:83686400-83686600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr14:83686600-83686800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:83687000-83692000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:83692000-83692200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr14:83692000-83692400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr14:83694200-83694600	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr14:83694200-83694800	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr14:83694400-83694800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr14:83694400-83696200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr14:83694400-83697400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr14:83694400-83698600	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr14:83694600-83695800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr14:83694600-83696200	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr14:83694800-83696000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr14:83694800-83696400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr14:83695800-83697400	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr14:83696000-83697400	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr14:83696200-83696600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr14:83696400-83697200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr14:83696600-83697200	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr14:83697400-83698600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr14:83697400-83698600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr14:83698600-83700800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr14:83698800-83699000	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr14:83713000-83715400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr14:83713200-83713400	Enhancers	Brain Germinal Matrix	brain
42	chr14:83713400-83714800	Weak transcription	Brain Germinal Matrix	brain
43	chr14:83713800-83714600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr14:83714200-83715000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr14:83714600-83716000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr14:83714800-83715400	Enhancers	Brain Germinal Matrix	brain
47	chr14:83716000-83716200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr14:83716200-83716600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr14:83716600-83717000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr14:83717400-83717800	Enhancers	Rectal Smooth Muscle	rectum

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