Variant report

Variant	nsv520394
Chromosome Location	chr14:80915590-80923468
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:80916725..80918586-chr14:80920062..80922896,2	MCF-7	breast:
2	chr14:80913917..80916409-chr14:80918301..80920954,2	MCF-7	breast:
3	chr14:80916725..80918586-chr14:80920062..80922896,2	MCF-7	breast:
4	chr14:80913917..80916409-chr14:80918301..80920954,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NRXN3-2	chr14:80921471-80921810	ENSG00000249517
2	lnc-NRXN3-2	chr14:80921471-80921812	ENSG00000258766.1

No data

Extended variants
information (count: 257 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:257 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6574575	chr14:80915590-80915591	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530813312	chr14:80915652-80915653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552159478	chr14:80915655-80915656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs151150817	chr14:80915688-80915689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373788493	chr14:80915739-80915740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528593307	chr14:80915743-80915744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192091119	chr14:80915762-80915763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77699348	chr14:80915861-80915862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140064864	chr14:80915863-80915864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551285562	chr14:80915874-80915875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146962259	chr14:80915926-80915927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536997702	chr14:80915935-80915936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558275466	chr14:80915968-80915969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147578765	chr14:80916028-80916029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534440381	chr14:80916045-80916046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142543186	chr14:80916048-80916049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574285802	chr14:80916073-80916074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs538469068	chr14:80916106-80916107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541671498	chr14:80916160-80916161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183817887	chr14:80916176-80916177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575183956	chr14:80916208-80916209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531907196	chr14:80916234-80916235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545758347	chr14:80916246-80916247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564345446	chr14:80916276-80916277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371414705	chr14:80916278-80916279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528516573	chr14:80916295-80916296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs36034240	chr14:80916350-80916351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546763407	chr14:80916392-80916393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562248822	chr14:80916397-80916398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12436273	chr14:80916414-80916415	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs551199635	chr14:80916415-80916416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568615125	chr14:80916441-80916442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569530470	chr14:80916450-80916451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138883035	chr14:80916454-80916455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552120904	chr14:80916477-80916478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570328765	chr14:80916506-80916507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188761210	chr14:80916524-80916525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10135936	chr14:80916587-80916588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149437915	chr14:80916591-80916592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs547073916	chr14:80916605-80916606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112173522	chr14:80916622-80916623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs193256056	chr14:80916624-80916625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs184142613	chr14:80916648-80916649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143801784	chr14:80916680-80916681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545757714	chr14:80916693-80916694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188215976	chr14:80916699-80916700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573145171	chr14:80916773-80916774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs540668458	chr14:80916790-80916791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561993742	chr14:80916808-80916809	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529416191	chr14:80916809-80916810	ZNF genes & repeats Weak transcription	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
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
Breast cancer	22522925	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80905800-80916800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr14:80915200-80919400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr14:80916800-80917400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:80919400-80920000	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr14:80919800-80921600	Weak transcription	HSMM	muscle
6	chr14:80920000-80921200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr14:80920400-80920600	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr14:80920600-80921200	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr14:80921200-80921400	Enhancers	Psoas Muscle	Psoas
10	chr14:80921200-80923800	Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr14:80921200-80925200	Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr14:80921400-80921800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:80921400-80921800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr14:80921400-80921800	Active TSS	Fetal Muscle Trunk	muscle
15	chr14:80921400-80921800	Flanking Active TSS	Psoas Muscle	Psoas
16	chr14:80921600-80922000	Active TSS	HSMMtube	muscle
17	chr14:80921600-80922200	Active TSS	Fetal Muscle Leg	muscle
18	chr14:80921600-80923400	Enhancers	HSMM	muscle
19	chr14:80921800-80922200	Active TSS	Psoas Muscle	Psoas
20	chr14:80922200-80923000	Weak transcription	Psoas Muscle	Psoas
21	chr14:80922200-80929200	Weak transcription	Fetal Muscle Leg	muscle
22	chr14:80922400-80923000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr14:80922400-80923000	Enhancers	Muscle Satellite Cultured Cells	--
24	chr14:80923000-80923600	Active TSS	Psoas Muscle	Psoas
25	chr14:80923400-80941200	Weak transcription	HSMM	muscle

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