Variant report

Variant	nsv521291
Chromosome Location	chr14:82136840-82174341
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:82167442..82169869-chr14:82176351..82178755,2	MCF-7	breast:
2	chr14:82134770..82137572-chr20:47128262..47129981,2	MCF-7	breast:

Extended variants
information (count: 1032 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:1032 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10129518	chr14:82136840-82136841	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs76575388	chr14:82136845-82136846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147632297	chr14:82136889-82136890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76346548	chr14:82136922-82136923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78151149	chr14:82136990-82136991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10131960	chr14:82137009-82137010	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs141969617	chr14:82137010-82137011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145716298	chr14:82137136-82137137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546663764	chr14:82137177-82137178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199610121	chr14:82137180-82137181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567967953	chr14:82137188-82137189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535403821	chr14:82137192-82137193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573023569	chr14:82137198-82137199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs80054427	chr14:82137217-82137218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565291051	chr14:82137244-82137245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs80013413	chr14:82137382-82137383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539327518	chr14:82137446-82137447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs61986777	chr14:82137450-82137451	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs572984999	chr14:82137452-82137453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534042518	chr14:82137453-82137454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs80138696	chr14:82137458-82137459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78703197	chr14:82137481-82137482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75194451	chr14:82137494-82137495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544583325	chr14:82137495-82137496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548282091	chr14:82137530-82137531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185584230	chr14:82137541-82137542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75392547	chr14:82137564-82137565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs74488887	chr14:82137590-82137591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79106368	chr14:82137598-82137599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376004461	chr14:82137653-82137654	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150464793	chr14:82137660-82137661	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527841808	chr14:82137661-82137662	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs8009637	chr14:82137665-82137666	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs150411778	chr14:82137680-82137681	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs374071653	chr14:82137687-82137688	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs113878137	chr14:82137720-82137721	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189310511	chr14:82137735-82137736	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs73350079	chr14:82137747-82137748	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs111578740	chr14:82137751-82137752	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs148447696	chr14:82137760-82137761	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs180945556	chr14:82137786-82137787	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs184797037	chr14:82137788-82137789	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs539389236	chr14:82137815-82137816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551221966	chr14:82137827-82137828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567894463	chr14:82137847-82137848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566550441	chr14:82137865-82137866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373825656	chr14:82137877-82137878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs533959341	chr14:82137878-82137879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188824147	chr14:82137879-82137880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138261296	chr14:82137882-82137883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:82135600-82137600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr14:82137600-82137800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr14:82137600-82137800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
4	chr14:82137600-82137800	Enhancers	Fetal Heart	heart
5	chr14:82137600-82137800	Enhancers	Ovary	ovary
6	chr14:82137800-82139600	Weak transcription	Fetal Heart	heart
7	chr14:82138000-82138200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr14:82139600-82141400	Enhancers	Fetal Heart	heart
9	chr14:82141400-82144200	Weak transcription	Fetal Heart	heart
10	chr14:82142600-82144000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr14:82143400-82144600	Enhancers	Spleen	Spleen
12	chr14:82144200-82144400	Enhancers	Fetal Heart	heart
13	chr14:82144400-82146600	Weak transcription	Fetal Heart	heart
14	chr14:82145800-82146600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
15	chr14:82146000-82146200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
16	chr14:82146000-82146200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
17	chr14:82146000-82146200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr14:82146000-82146400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:82146000-82146800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
20	chr14:82146000-82147200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
21	chr14:82146000-82148000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr14:82146200-82146400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
23	chr14:82146200-82146400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
24	chr14:82146200-82146600	Enhancers	Fetal Muscle Leg	muscle
25	chr14:82146200-82146600	Enhancers	Fetal Stomach	stomach
26	chr14:82146200-82147200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
27	chr14:82146200-82149200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
28	chr14:82146200-82149600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
29	chr14:82146400-82146600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
30	chr14:82146400-82148200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr14:82146400-82149000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:82146600-82146800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
33	chr14:82146600-82147000	Weak transcription	Fetal Stomach	stomach
34	chr14:82146600-82147200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr14:82146600-82147800	Weak transcription	Fetal Muscle Leg	muscle
36	chr14:82146800-82147200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr14:82147000-82147200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
38	chr14:82147000-82147800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr14:82147000-82148000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
40	chr14:82147000-82149200	Enhancers	Fetal Stomach	stomach
41	chr14:82147200-82147400	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
42	chr14:82147200-82147400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
43	chr14:82147200-82147400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
44	chr14:82147200-82147400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
45	chr14:82147200-82147400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
46	chr14:82147200-82147600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
47	chr14:82147400-82147600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
48	chr14:82147400-82148200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
49	chr14:82147400-82148800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr14:82147400-82149200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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