Variant report

Variant	nsv902134
Chromosome Location	chr14:83562841-83725177
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: 3320 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:3320 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2026203	chr14:83562841-83562842	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs142078592	chr14:83562848-83562849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs35303976	chr14:83562852-83562853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533730408	chr14:83562904-83562905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555404161	chr14:83562917-83562918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537946371	chr14:83562962-83562963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191665512	chr14:83563015-83563016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185378024	chr14:83563035-83563036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs146300772	chr14:83563083-83563084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs59089585	chr14:83563086-83563087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs578145381	chr14:83563150-83563151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs17117941	chr14:83563168-83563169	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs560675649	chr14:83563169-83563170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144338309	chr14:83565203-83565204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181278651	chr14:83565255-83565256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531307831	chr14:83565258-83565259	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs59282683	chr14:83565268-83565269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs151139688	chr14:83565282-83565283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571190531	chr14:83565327-83565328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532820440	chr14:83565328-83565329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs186440003	chr14:83565361-83565362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs78075936	chr14:83565376-83565377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs200480256	chr14:83565384-83565385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554270741	chr14:83565400-83565401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542627793	chr14:83565430-83565431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183659386	chr14:83565438-83565439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537162324	chr14:83565452-83565453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149601740	chr14:83565453-83565454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199583428	chr14:83565454-83565455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558894270	chr14:83565456-83565457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs58472328	chr14:83565463-83565464	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs545282729	chr14:83565464-83565465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554148452	chr14:83565470-83565471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572379330	chr14:83565473-83565474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187191442	chr14:83565508-83565509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561086689	chr14:83565579-83565580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370491729	chr14:83565603-83565604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531421431	chr14:83565615-83565616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543182293	chr14:83565630-83565631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564894880	chr14:83565728-83565729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532052090	chr14:83565738-83565739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146976263	chr14:83565743-83565744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200049415	chr14:83565747-83565748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546175343	chr14:83565749-83565750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77404907	chr14:83565755-83565756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs61982237	chr14:83565757-83565758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545847531	chr14:83565761-83565762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75039540	chr14:83565783-83565784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530350794	chr14:83565804-83565805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150054843	chr14:83565913-83565914	Weak transcription	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:209 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:83562200-83563200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr14:83562600-83563000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr14:83565200-83565400	Enhancers	Aorta	Aorta
4	chr14:83565400-83567200	Weak transcription	Aorta	Aorta
5	chr14:83567200-83567400	Enhancers	Aorta	Aorta
6	chr14:83573600-83575000	Enhancers	Brain Germinal Matrix	brain
7	chr14:83583400-83583800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr14:83590800-83592200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr14:83591000-83591800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr14:83591000-83592000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr14:83591200-83591400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr14:83591200-83591800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr14:83591200-83592000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr14:83591200-83592400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr14:83591200-83593600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr14:83591400-83591800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:83591400-83593800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr14:83592600-83592800	Enhancers	Fetal Brain Male	brain
19	chr14:83592800-83595400	Weak transcription	Fetal Brain Male	brain
20	chr14:83593600-83593800	Enhancers	Fetal Brain Female	brain
21	chr14:83593600-83599000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr14:83593800-83594400	Enhancers	Fetal Kidney	kidney
23	chr14:83593800-83594600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr14:83593800-83594600	Weak transcription	Fetal Brain Female	brain
25	chr14:83594600-83595600	Enhancers	Fetal Brain Female	brain
26	chr14:83594600-83598800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr14:83595400-83596600	Enhancers	Fetal Brain Male	brain
28	chr14:83595600-83596000	Active TSS	Fetal Brain Female	brain
29	chr14:83596000-83596400	Enhancers	Fetal Brain Female	brain
30	chr14:83596400-83599000	Weak transcription	Fetal Brain Female	brain
31	chr14:83596600-83597000	Weak transcription	Fetal Brain Male	brain
32	chr14:83597000-83597600	Enhancers	Fetal Brain Male	brain
33	chr14:83597600-83599000	Weak transcription	Fetal Brain Male	brain
34	chr14:83598400-83598600	Enhancers	Brain Germinal Matrix	brain
35	chr14:83598800-83599200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr14:83598800-83600200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr14:83599000-83600600	Enhancers	H1 Cell Line	embryonic stem cell
38	chr14:83599000-83601400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr14:83599000-83601600	Enhancers	Fetal Brain Male	brain
40	chr14:83599000-83601600	Enhancers	Fetal Brain Female	brain
41	chr14:83599200-83599400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr14:83599200-83599600	Enhancers	Aorta	Aorta
43	chr14:83599200-83601200	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr14:83599400-83599600	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr14:83599400-83599800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr14:83599600-83600400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr14:83599800-83600000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr14:83600000-83600200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr14:83600000-83601000	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr14:83600000-83601000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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