Variant report

Variant	nsv902144
Chromosome Location	chr14:83600010-83673387
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1540 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1540 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2210174	chr14:83600010-83600011	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs147553438	chr14:83600012-83600013	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs568600976	chr14:83600024-83600025	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs114576448	chr14:83600028-83600029	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs374851791	chr14:83600031-83600032	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs551028052	chr14:83600052-83600053	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs569028905	chr14:83600065-83600066	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs149839524	chr14:83600073-83600074	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs557773750	chr14:83600092-83600093	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs375388498	chr14:83600093-83600094	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs145871891	chr14:83600126-83600127	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs201614695	chr14:83600165-83600166	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs12896695	chr14:83600173-83600174	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs563684341	chr14:83600178-83600179	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs72707749	chr14:83600211-83600212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12896848	chr14:83600275-83600276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149018054	chr14:83600298-83600299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs12896865	chr14:83600310-83600311	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs557071324	chr14:83600384-83600385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575445671	chr14:83600426-83600427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113057600	chr14:83600433-83600434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201150311	chr14:83600441-83600442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374052214	chr14:83600444-83600445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs551225948	chr14:83600461-83600462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564115592	chr14:83600470-83600471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181866308	chr14:83600477-83600478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528767999	chr14:83600486-83600487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540879942	chr14:83600510-83600511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562257876	chr14:83600534-83600535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550918394	chr14:83600590-83600591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562635607	chr14:83600591-83600592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74069112	chr14:83600699-83600700	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533299215	chr14:83600703-83600704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551465978	chr14:83600705-83600706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566490044	chr14:83600706-83600707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186882275	chr14:83600712-83600713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546846492	chr14:83600750-83600751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540863966	chr14:83600754-83600755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs568291973	chr14:83600764-83600765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs17693321	chr14:83600878-83600879	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs557232896	chr14:83600883-83600884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191474859	chr14:83600901-83600902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs564047772	chr14:83600916-83600917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539491835	chr14:83600929-83600930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557894074	chr14:83600954-83600955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs28606606	chr14:83600966-83600967	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs539867395	chr14:83600973-83600974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181969548	chr14:83600984-83600985	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs574296038	chr14:83601020-83601021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs369936050	chr14:83601022-83601023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
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
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:83598800-83600200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:83599000-83600600	Enhancers	H1 Cell Line	embryonic stem cell
3	chr14:83599000-83601400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr14:83599000-83601600	Enhancers	Fetal Brain Male	brain
5	chr14:83599000-83601600	Enhancers	Fetal Brain Female	brain
6	chr14:83599200-83601200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr14:83599600-83600400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr14:83600000-83600200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr14:83600000-83601000	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr14:83600000-83601000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr14:83600000-83601000	Enhancers	Fetal Heart	heart
12	chr14:83600200-83601000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr14:83600200-83601000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr14:83600200-83604000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr14:83600400-83600800	Enhancers	Brain Germinal Matrix	brain
16	chr14:83600400-83601200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr14:83600400-83601400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr14:83600800-83601600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr14:83601000-83601600	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr14:83601000-83602400	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr14:83601000-83603600	Weak transcription	Fetal Heart	heart
22	chr14:83601600-83602400	Weak transcription	Fetal Brain Male	brain
23	chr14:83602400-83602600	Enhancers	Fetal Brain Male	brain
24	chr14:83602600-83603800	Weak transcription	Fetal Brain Male	brain
25	chr14:83602800-83603000	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr14:83603600-83604600	Enhancers	Fetal Heart	heart
27	chr14:83603800-83604000	Enhancers	Fetal Brain Male	brain
28	chr14:83604000-83605400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr14:83605400-83607800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr14:83607800-83608200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr14:83607800-83608600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr14:83607800-83609000	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr14:83608000-83608600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr14:83608400-83609200	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr14:83608600-83609200	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr14:83609200-83609800	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr14:83609800-83610000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr14:83612800-83614000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr14:83614000-83619200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr14:83618000-83619400	Enhancers	Fetal Brain Female	brain
41	chr14:83619200-83619600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr14:83619600-83621200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr14:83621200-83621600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr14:83621600-83629000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr14:83624800-83625200	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr14:83628200-83629200	Enhancers	Aorta	Aorta
47	chr14:83628600-83632000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr14:83628800-83629000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr14:83628800-83630000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr14:83629000-83629200	Enhancers	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links