Variant report

Variant	nsv974475
Chromosome Location	chr14:81125843-81129360
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:81124495..81126695-chr14:81127344..81130125,3	MCF-7	breast:
2	chr14:81128064..81130870-chr14:81132891..81135681,3	MCF-7	breast:
3	chr14:81124495..81126695-chr14:81127344..81130125,3	MCF-7	breast:
4	chr14:81120693..81123298-chr14:81125309..81128150,2	MCF-7	breast:

Extended variants
information (count: 130 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527942639	chr14:81125852-81125853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs111395463	chr14:81125880-81125881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572375375	chr14:81125901-81125902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10145240	chr14:81125924-81125925	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs145542288	chr14:81125925-81125926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376677157	chr14:81125938-81125939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs10498548	chr14:81126016-81126017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113889683	chr14:81126058-81126059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs543582136	chr14:81126135-81126136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191653513	chr14:81126142-81126143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577064719	chr14:81126153-81126154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148906062	chr14:81126156-81126157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74066062	chr14:81126215-81126216	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs386779240	chr14:81126216-81126217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10498549	chr14:81126217-81126218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143625104	chr14:81126221-81126222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531411338	chr14:81126242-81126243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs74066064	chr14:81126258-81126259	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571455546	chr14:81126343-81126344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538793696	chr14:81126361-81126362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs182230857	chr14:81126414-81126415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565949615	chr14:81126418-81126419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs721867	chr14:81126429-81126430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554927658	chr14:81126430-81126431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs76440536	chr14:81126480-81126481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138203022	chr14:81126598-81126599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs558671714	chr14:81126645-81126646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs576927462	chr14:81126686-81126687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566799687	chr14:81126689-81126690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528358365	chr14:81126699-81126700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187191441	chr14:81126724-81126725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs716483	chr14:81126729-81126730	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs113926336	chr14:81126753-81126754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs377601184	chr14:81126764-81126765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375514143	chr14:81126766-81126767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs201694798	chr14:81126767-81126768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs560922379	chr14:81126812-81126813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs535647236	chr14:81126826-81126827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs531246895	chr14:81126832-81126833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577984887	chr14:81126892-81126893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs191018612	chr14:81126897-81126898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112013294	chr14:81126965-81126966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs553979376	chr14:81126995-81126996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532262750	chr14:81127002-81127003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs5810001	chr14:81127129-81127130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs35368032	chr14:81127130-81127131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs3070041	chr14:81127131-81127132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs370904119	chr14:81127180-81127181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs115048693	chr14:81127186-81127187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186924419	chr14:81127188-81127189	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
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81106200-81135400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:81108200-81145800	Weak transcription	Fetal Thymus	thymus
3	chr14:81120800-81130600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:81122600-81129400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:81124200-81126000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr14:81124200-81126200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr14:81124200-81126200	Enhancers	Brain Cingulate Gyrus	brain
8	chr14:81124200-81126400	Enhancers	HepG2	liver
9	chr14:81124400-81126000	Enhancers	Brain Substantia Nigra	brain
10	chr14:81124600-81133000	Enhancers	Dnd41	blood
11	chr14:81125400-81129600	Weak transcription	Brain Anterior Caudate	brain
12	chr14:81125600-81127400	Weak transcription	Brain Germinal Matrix	brain
13	chr14:81125800-81129400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr14:81125800-81129800	Weak transcription	Brain Hippocampus Middle	brain
15	chr14:81125800-81129800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr14:81126000-81128200	Weak transcription	Brain Substantia Nigra	brain
17	chr14:81126000-81129400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr14:81126400-81130600	Weak transcription	HepG2	liver
19	chr14:81127400-81127800	Enhancers	Brain Germinal Matrix	brain
20	chr14:81127800-81129400	Weak transcription	Brain Germinal Matrix	brain
21	chr14:81128200-81128400	Enhancers	Brain Substantia Nigra	brain
22	chr14:81128400-81128800	Weak transcription	Brain Substantia Nigra	brain
23	chr14:81128800-81130400	Enhancers	Brain Substantia Nigra	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links