Variant report

Variant	nsv974289
Chromosome Location	chr14:80911851-80915626
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	chr14:80913917..80916409-chr14:80918301..80920954,2	MCF-7	breast:

Extended variants
information (count: 150 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:150 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539162461	chr14:80911932-80911933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190769655	chr14:80911967-80911968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs77437109	chr14:80911970-80911971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534024304	chr14:80912008-80912009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555361998	chr14:80912017-80912018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs28502765	chr14:80912022-80912023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142861861	chr14:80912081-80912082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538400252	chr14:80912097-80912098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571120516	chr14:80912113-80912114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs578126137	chr14:80912131-80912132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs56876627	chr14:80912133-80912134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs180824417	chr14:80912161-80912162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184667668	chr14:80912162-80912163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146734073	chr14:80912163-80912164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs116856852	chr14:80912186-80912187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531892741	chr14:80912193-80912194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79049512	chr14:80912221-80912222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139273085	chr14:80912236-80912237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532791913	chr14:80912270-80912271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370076814	chr14:80912297-80912298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551045390	chr14:80912299-80912300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566600604	chr14:80912372-80912373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113550880	chr14:80912456-80912457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188364960	chr14:80912462-80912463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs144158051	chr14:80912490-80912491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553553571	chr14:80912539-80912540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146503841	chr14:80912561-80912562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556528541	chr14:80912611-80912612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs578060032	chr14:80912617-80912618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs370323252	chr14:80912680-80912681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553972640	chr14:80912691-80912692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181233285	chr14:80912733-80912734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs375036267	chr14:80912758-80912759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs542814224	chr14:80912827-80912828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs561546881	chr14:80912853-80912854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531856405	chr14:80912869-80912870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543685089	chr14:80912972-80912973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs572227712	chr14:80912978-80912979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565270300	chr14:80913000-80913001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs558474326	chr14:80913095-80913096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs574604210	chr14:80913132-80913133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs149670045	chr14:80913134-80913135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs372102844	chr14:80913135-80913136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs10664034	chr14:80913144-80913145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs4016516	chr14:80913147-80913148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs2059967	chr14:80913156-80913157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs58744906	chr14:80913293-80913294	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs566395036	chr14:80913334-80913335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs200016585	chr14:80913364-80913365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112363755	chr14:80913418-80913419	Weak transcription Enhancers	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:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80902000-80913400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:80905800-80916800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:80911800-80912400	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr14:80912000-80912400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr14:80912000-80912400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr14:80912000-80912400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:80912000-80912600	Enhancers	H9 Cell Line	embryonic stem cell
8	chr14:80912000-80912600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr14:80912200-80912400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr14:80912200-80912600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr14:80912200-80912600	Enhancers	H1 Cell Line	embryonic stem cell
12	chr14:80912200-80912600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:80912200-80914400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr14:80912400-80913800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:80912600-80912800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr14:80912600-80913400	Enhancers	NHDF-Ad	bronchial
17	chr14:80913400-80914000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr14:80915200-80919400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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