Variant report

Variant	nsv565413
Chromosome Location	chr14:85298877-85321298
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 166 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:166 , 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	rs114671611	chr14:85299416-85299417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs557290406	chr14:85299428-85299429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187547452	chr14:85299439-85299440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545581748	chr14:85299485-85299486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs117750981	chr14:85299636-85299637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572964206	chr14:85299639-85299640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368312174	chr14:85299738-85299739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs75779093	chr14:85299769-85299770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs58306574	chr14:85299778-85299779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540490019	chr14:85299782-85299783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372526184	chr14:85299839-85299840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs544251618	chr14:85299851-85299852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561644835	chr14:85299864-85299865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529195087	chr14:85299873-85299874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544460405	chr14:85299897-85299898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs375752058	chr14:85299951-85299952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs191989671	chr14:85299969-85299970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533201761	chr14:85299990-85299991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs200084330	chr14:85300002-85300003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570647505	chr14:85300058-85300059	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139788759	chr14:85300059-85300060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs184207897	chr14:85300060-85300061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12435029	chr14:85300095-85300096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs36121088	chr14:85300138-85300139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535786436	chr14:85300151-85300152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs141556735	chr14:85300156-85300157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574631966	chr14:85300159-85300160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571049355	chr14:85311219-85311220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs1998854	chr14:85311234-85311235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs370302506	chr14:85311240-85311241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565513486	chr14:85311269-85311270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs72679908	chr14:85311318-85311319	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs574491493	chr14:85311368-85311369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs141146838	chr14:85311377-85311378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs187849283	chr14:85311384-85311385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575355217	chr14:85311386-85311387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs61375419	chr14:85311505-85311506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs36014449	chr14:85311511-85311512	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs113630232	chr14:85311514-85311515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs143375378	chr14:85311517-85311518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs58577938	chr14:85311559-85311560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189819516	chr14:85311563-85311564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs376027806	chr14:85311590-85311591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs183176243	chr14:85311605-85311606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs373907886	chr14:85311618-85311619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs561700931	chr14:85311657-85311658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs34226091	chr14:85311720-85311721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530145728	chr14:85311753-85311754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs146712868	chr14:85311760-85311761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs374310890	chr14:85311905-85311906	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21569311	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:85299400-85300200	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr14:85311200-85312000	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr14:85318000-85318200	Enhancers	Adipose Nuclei	Adipose
4	chr14:85318200-85322200	Weak transcription	Adipose Nuclei	Adipose
5	chr14:85319800-85320600	Enhancers	Fetal Heart	heart
6	chr14:85320000-85320600	Enhancers	Hela-S3	cervix
7	chr14:85320200-85320400	Enhancers	Fetal Muscle Leg	muscle
8	chr14:85320600-85322200	Weak transcription	Fetal Heart	heart
9	chr14:85320600-85323800	Weak transcription	Hela-S3	cervix
10	chr14:85320800-85321200	Weak transcription	Fetal Muscle Leg	muscle
11	chr14:85321000-85321400	Enhancers	Fetal Brain Female	brain
12	chr14:85321200-85321400	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr14:85321200-85321400	Enhancers	Fetal Muscle Leg	muscle

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