Variant report

Variant	nsv9157
Chromosome Location	chr14:79021816-79024148
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	chr14:79022120..79024903-chr14:79027918..79029627,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139799675	chr14:79022231-79022232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs181663079	chr14:79022342-79022343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376029124	chr14:79022435-79022436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564354291	chr14:79022459-79022460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533318980	chr14:79022488-79022489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145005159	chr14:79022505-79022506	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569716569	chr14:79022538-79022539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560363229	chr14:79022556-79022557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373659909	chr14:79022558-79022559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539269781	chr14:79022572-79022573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147574612	chr14:79022583-79022584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548959218	chr14:79022586-79022587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576754005	chr14:79022599-79022600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149056525	chr14:79022621-79022622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143083450	chr14:79022639-79022640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571495704	chr14:79022650-79022651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537235255	chr14:79022739-79022740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs151288577	chr14:79022814-79022815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576481061	chr14:79022815-79022816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535534514	chr14:79022820-79022821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542901305	chr14:79022823-79022824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140562909	chr14:79022829-79022830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs367582132	chr14:79022837-79022838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs572072310	chr14:79022843-79022844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185955606	chr14:79022851-79022852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs8004047	chr14:79022870-79022871	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs8003165	chr14:79022877-79022878	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs543986179	chr14:79022882-79022883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563284914	chr14:79022920-79022921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528986513	chr14:79022937-79022938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556174835	chr14:79022983-79022984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191554554	chr14:79023016-79023017	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs559413823	chr14:79023022-79023023	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs528070651	chr14:79023041-79023042	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs553641138	chr14:79023108-79023109	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs551734898	chr14:79023124-79023125	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs571559133	chr14:79023128-79023129	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs182895967	chr14:79023134-79023135	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs76540498	chr14:79023161-79023162	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs571803961	chr14:79023166-79023167	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs532716717	chr14:79023169-79023170	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs147400491	chr14:79023170-79023171	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs138470169	chr14:79023184-79023185	ZNF genes & repeats Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs555411588	chr14:79023268-79023269	ZNF genes & repeats Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572132536	chr14:79023271-79023272	ZNF genes & repeats Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs188050202	chr14:79023304-79023305	ZNF genes & repeats Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534679806	chr14:79023361-79023362	ZNF genes & repeats Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558070652	chr14:79023363-79023364	ZNF genes & repeats Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs371641382	chr14:79023393-79023394	ZNF genes & repeats Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543709172	chr14:79023418-79023419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Acute lymphoblastic leukemia	21098271	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
Chronic lymphocytic leukemia	21546498	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Hepatocellular carcinoma	16750200	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
Oral squamous cell carcinoma	17134496	CNVD
Intracranial aneurysm	16715129	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	22209245	CNVD
Prostate cancer	22553170	CNVD
Cancer	20164919	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79022200-79022600	Enhancers	Brain Germinal Matrix	brain
2	chr14:79022400-79022600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr14:79022600-79023000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:79023000-79023400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr14:79023000-79023400	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
6	chr14:79023200-79023400	Enhancers	HSMM	muscle
7	chr14:79023400-79032200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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