Variant report

Variant	nsv1378
Chromosome Location	chr14:82987558-83033093
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	chr14:83010856..83013980-chr14:83015159..83018295,3	K562	blood:
2	chr14:83010856..83013980-chr14:83015159..83018295,3	K562	blood:

Extended variants
information (count: 442 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:442 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566567662	chr14:82987825-82987826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs117392562	chr14:82987857-82987858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143953956	chr14:82987866-82987867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs76958586	chr14:82987928-82987929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs544059364	chr14:82987951-82987952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555740094	chr14:82987952-82987953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146455747	chr14:82987970-82987971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs544718823	chr14:82987983-82987984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560226661	chr14:82987985-82987986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544161771	chr14:82988403-82988404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs35975095	chr14:82988419-82988420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567072195	chr14:82988448-82988449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7143723	chr14:82988465-82988466	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs7142416	chr14:82988468-82988469	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs114678403	chr14:82988469-82988470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538655631	chr14:82988483-82988484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568847819	chr14:82988490-82988491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78824045	chr14:82988514-82988515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542318930	chr14:82988517-82988518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561535800	chr14:82988562-82988563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs368730643	chr14:82988584-82988585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140866529	chr14:82988595-82988596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565614215	chr14:82988623-82988624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532835348	chr14:82988636-82988637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535900214	chr14:82988646-82988647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs182274043	chr14:82988649-82988650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371416907	chr14:82988656-82988657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs375256543	chr14:82988670-82988671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547809310	chr14:82988674-82988675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74752438	chr14:82988676-82988677	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530211653	chr14:82988704-82988705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143819116	chr14:82988706-82988707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185137206	chr14:82988708-82988709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189840599	chr14:82988795-82988796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566666497	chr14:82988818-82988819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs368571141	chr14:82988819-82988820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs554636506	chr14:82988858-82988859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558712353	chr14:82989231-82989232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187179345	chr14:82989238-82989239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs367953656	chr14:82989239-82989240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191376340	chr14:82989280-82989281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551727407	chr14:82989294-82989295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183453291	chr14:82989301-82989302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536368283	chr14:82989312-82989313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554674040	chr14:82989349-82989350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576192773	chr14:82989350-82989351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372198947	chr14:82989379-82989380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113832331	chr14:82989461-82989462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs538735264	chr14:82989465-82989466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569695981	chr14:82989492-82989493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
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
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	21364760	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:82987800-82988000	Enhancers	Fetal Brain Female	brain
2	chr14:82988400-82988800	Weak transcription	Fetal Brain Female	brain
3	chr14:82988400-82989000	Enhancers	Fetal Brain Male	brain
4	chr14:82988800-82989000	Enhancers	Fetal Brain Female	brain
5	chr14:82989200-82989800	Weak transcription	Fetal Brain Female	brain
6	chr14:82992600-82994000	Weak transcription	Fetal Brain Female	brain
7	chr14:82994000-82994400	Enhancers	Fetal Brain Female	brain
8	chr14:82994000-82995200	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr14:82994200-82995000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:83011400-83011800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:83011600-83012000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:83016000-83016400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr14:83027400-83028000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr14:83028000-83028400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr14:83028400-83029000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr14:83028600-83029800	Enhancers	Fetal Lung	lung
17	chr14:83029000-83032600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr14:83029200-83029400	Enhancers	Ovary	ovary
19	chr14:83029200-83029600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr14:83029400-83030600	Weak transcription	Ovary	ovary
21	chr14:83029600-83033800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr14:83029800-83030200	Weak transcription	Fetal Lung	lung
23	chr14:83030200-83031000	Enhancers	Fetal Lung	lung
24	chr14:83030400-83030800	Enhancers	Fetal Kidney	kidney
25	chr14:83030600-83031800	Enhancers	Ovary	ovary
26	chr14:83032600-83032800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr14:83032800-83033800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links