Variant report

Variant	nsv902140
Chromosome Location	chr14:83591673-83725177
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	chr14:83686532..83688792-chr14:83690637..83692393,2	K562	blood:
2	chr14:83686532..83688792-chr14:83690637..83692393,2	K562	blood:

Extended variants
information (count: 3080 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:3080 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17692603	chr14:83591673-83591674	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551203446	chr14:83591680-83591681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs148741084	chr14:83591689-83591690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141484169	chr14:83591690-83591691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185652713	chr14:83591717-83591718	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530086879	chr14:83591729-83591730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150820903	chr14:83591802-83591803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs139262337	chr14:83591843-83591844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs143455505	chr14:83591846-83591847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549944998	chr14:83591847-83591848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571393470	chr14:83591862-83591863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs115223588	chr14:83591897-83591898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547046261	chr14:83591943-83591944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565461432	chr14:83591946-83591947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535813634	chr14:83591950-83591951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs74069103	chr14:83591958-83591959	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs559026702	chr14:83592047-83592048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549825250	chr14:83592102-83592103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs113926686	chr14:83592108-83592109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs367659122	chr14:83592189-83592190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577319141	chr14:83592221-83592222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558386712	chr14:83592237-83592238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544714383	chr14:83592242-83592243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs535455054	chr14:83592244-83592245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs140896927	chr14:83592245-83592246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370494047	chr14:83592248-83592249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541667941	chr14:83592274-83592275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562910452	chr14:83592288-83592289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs574844597	chr14:83592301-83592302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs553467350	chr14:83592305-83592306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374623828	chr14:83592308-83592309	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs34772033	chr14:83592321-83592322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs35697713	chr14:83592336-83592337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs547749218	chr14:83592351-83592352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs190060807	chr14:83592376-83592377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575020054	chr14:83592381-83592382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs112217817	chr14:83592393-83592394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs182996972	chr14:83592429-83592430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs117743926	chr14:83592437-83592438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113457445	chr14:83592439-83592440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs17692627	chr14:83592440-83592441	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs531624632	chr14:83592441-83592442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541700994	chr14:83592446-83592447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146758341	chr14:83592485-83592486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs139265206	chr14:83592537-83592538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570219375	chr14:83592538-83592539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537159078	chr14:83592544-83592545	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs532150273	chr14:83592600-83592601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185769424	chr14:83592621-83592622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs74069104	chr14:83592674-83592675	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
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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:201 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:83590800-83592200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr14:83591000-83591800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr14:83591000-83592000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr14:83591200-83591800	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr14:83591200-83592000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr14:83591200-83592400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr14:83591200-83593600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr14:83591400-83591800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:83591400-83593800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr14:83592600-83592800	Enhancers	Fetal Brain Male	brain
11	chr14:83592800-83595400	Weak transcription	Fetal Brain Male	brain
12	chr14:83593600-83593800	Enhancers	Fetal Brain Female	brain
13	chr14:83593600-83599000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:83593800-83594400	Enhancers	Fetal Kidney	kidney
15	chr14:83593800-83594600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr14:83593800-83594600	Weak transcription	Fetal Brain Female	brain
17	chr14:83594600-83595600	Enhancers	Fetal Brain Female	brain
18	chr14:83594600-83598800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr14:83595400-83596600	Enhancers	Fetal Brain Male	brain
20	chr14:83595600-83596000	Active TSS	Fetal Brain Female	brain
21	chr14:83596000-83596400	Enhancers	Fetal Brain Female	brain
22	chr14:83596400-83599000	Weak transcription	Fetal Brain Female	brain
23	chr14:83596600-83597000	Weak transcription	Fetal Brain Male	brain
24	chr14:83597000-83597600	Enhancers	Fetal Brain Male	brain
25	chr14:83597600-83599000	Weak transcription	Fetal Brain Male	brain
26	chr14:83598400-83598600	Enhancers	Brain Germinal Matrix	brain
27	chr14:83598800-83599200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr14:83598800-83600200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr14:83599000-83600600	Enhancers	H1 Cell Line	embryonic stem cell
30	chr14:83599000-83601400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr14:83599000-83601600	Enhancers	Fetal Brain Male	brain
32	chr14:83599000-83601600	Enhancers	Fetal Brain Female	brain
33	chr14:83599200-83599400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr14:83599200-83599600	Enhancers	Aorta	Aorta
35	chr14:83599200-83601200	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr14:83599400-83599600	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr14:83599400-83599800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr14:83599600-83600400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr14:83599800-83600000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr14:83600000-83600200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr14:83600000-83601000	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr14:83600000-83601000	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr14:83600000-83601000	Enhancers	Fetal Heart	heart
44	chr14:83600200-83601000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr14:83600200-83601000	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr14:83600200-83604000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr14:83600400-83600800	Enhancers	Brain Germinal Matrix	brain
48	chr14:83600400-83601200	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr14:83600400-83601400	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr14:83600800-83601600	Enhancers	HUES6 Cell Line	embryonic stem cell

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