Variant report

Variant	nsv974275
Chromosome Location	chr14:41173852-41204734
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	chr14:40886812..40887593-chr14:41183727..41184438,2	MCF-7	breast:
2	chr14:40886743..40887636-chr14:41183711..41184631,4	MCF-7	breast:

Extended variants
information (count: 747 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:747 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76500135	chr14:41173870-41173871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201238755	chr14:41173871-41173872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs35579956	chr14:41173881-41173882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563562576	chr14:41174015-41174016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376176013	chr14:41174050-41174051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575491350	chr14:41174081-41174082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543295671	chr14:41174139-41174140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs60437539	chr14:41174153-41174154	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs547108777	chr14:41174199-41174200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559454380	chr14:41174204-41174205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533079314	chr14:41174281-41174282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185319226	chr14:41174282-41174283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78313091	chr14:41174293-41174294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535599552	chr14:41174317-41174318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs71409950	chr14:41174324-41174325	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs189830493	chr14:41174407-41174408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs73300253	chr14:41174445-41174446	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs143949232	chr14:41174489-41174490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575826834	chr14:41174510-41174511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77579106	chr14:41174544-41174545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552965767	chr14:41174570-41174571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs7161292	chr14:41174591-41174592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182815335	chr14:41174598-41174599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs538756336	chr14:41174612-41174613	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs185642220	chr14:41174664-41174665	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs575791972	chr14:41174762-41174763	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs113914841	chr14:41174787-41174788	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs35472617	chr14:41174803-41174804	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs542879940	chr14:41174814-41174815	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs73300255	chr14:41174815-41174816	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs573471754	chr14:41174885-41174886	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs191702081	chr14:41175011-41175012	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs577919999	chr14:41175024-41175025	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs559391387	chr14:41175028-41175029	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs545825695	chr14:41175031-41175032	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs183736072	chr14:41175038-41175039	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs559446426	chr14:41175088-41175089	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs533021271	chr14:41175120-41175121	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs551493821	chr14:41175206-41175207	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563422646	chr14:41175261-41175262	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148624986	chr14:41175274-41175275	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371193409	chr14:41175279-41175280	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73300256	chr14:41175284-41175285	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs141207406	chr14:41175288-41175289	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534634775	chr14:41175308-41175309	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1959892	chr14:41175330-41175331	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs571296481	chr14:41175339-41175340	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538692713	chr14:41175368-41175369	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557013336	chr14:41175432-41175433	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188215476	chr14:41175439-41175440	ZNF genes & repeats Weak transcription	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
Colorectal cancer	16774939	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
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Immune disease	21076436	CNVD
Immune disease	21042300	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:41171600-41182600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr14:41174200-41174600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr14:41174600-41175800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
4	chr14:41175200-41175800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:41175800-41186400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:41177000-41177200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:41181600-41185600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr14:41182600-41183200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:41185600-41186000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr14:41185800-41187800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:41186000-41186400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr14:41186400-41187000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr14:41186400-41187000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
14	chr14:41186600-41187400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
15	chr14:41190800-41195600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr14:41191400-41192200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links