Variant report

Variant	nsv902016
Chromosome Location	chr14:63411610-63439033
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:63410357..63412054-chr14:63412109..63413791,2	K562	blood:
2	chr14:63428609..63430223-chr14:63444696..63447278,2	K562	blood:
3	chr14:63410357..63412054-chr14:63412109..63413791,2	K562	blood:
4	chr14:63403508..63406269-chr14:63411300..63414277,3	K562	blood:

Extended variants
information (count: 737 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:737 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7157913	chr14:63411610-63411611	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs559992840	chr14:63411627-63411628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573583608	chr14:63411640-63411641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377387932	chr14:63411662-63411663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549089128	chr14:63411680-63411681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568905732	chr14:63411735-63411736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537482800	chr14:63411776-63411777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1546987	chr14:63411839-63411840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552121694	chr14:63411842-63411843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141187210	chr14:63411853-63411854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150748643	chr14:63411857-63411858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572906948	chr14:63411862-63411863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139409574	chr14:63411868-63411869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145029638	chr14:63411881-63411882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536385676	chr14:63411916-63411917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190252735	chr14:63411927-63411928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs17100561	chr14:63411966-63411967	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs544967765	chr14:63412012-63412013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557778810	chr14:63412017-63412018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577822562	chr14:63412036-63412037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147152074	chr14:63412046-63412047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182326717	chr14:63412069-63412070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573863912	chr14:63412143-63412144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562462182	chr14:63412146-63412147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542771835	chr14:63412152-63412153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562538941	chr14:63412161-63412162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531346018	chr14:63412198-63412199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1956023	chr14:63412238-63412239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374886807	chr14:63412260-63412261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575796638	chr14:63412269-63412270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377119103	chr14:63412281-63412282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs17223930	chr14:63412311-63412312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565440910	chr14:63412320-63412321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575492428	chr14:63412329-63412330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs554159609	chr14:63412333-63412334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140179627	chr14:63412334-63412335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185659829	chr14:63412343-63412344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574067402	chr14:63412386-63412387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189057315	chr14:63412397-63412398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150070376	chr14:63412407-63412408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs145326776	chr14:63412412-63412413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181728361	chr14:63412420-63412421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs74823803	chr14:63412437-63412438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs10141487	chr14:63412441-63412442	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs534129793	chr14:63412444-63412445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs368488608	chr14:63412449-63412450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs17100562	chr14:63412463-63412464	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs539955960	chr14:63412470-63412471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs142304663	chr14:63412485-63412486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs73276486	chr14:63412497-63412498	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Leukemia	18688285	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22737080	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63402800-63422600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:63410800-63413800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr14:63410800-63414000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr14:63411200-63412400	Weak transcription	Gastric	stomach
5	chr14:63412400-63412600	Enhancers	Gastric	stomach
6	chr14:63413800-63414400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr14:63414000-63414600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:63414600-63422800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:63415200-63417800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr14:63418800-63419200	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr14:63418800-63419600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr14:63419600-63422400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr14:63422400-63425000	Enhancers	NHLF	lung
14	chr14:63422400-63425600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:63422600-63422800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:63422600-63425200	Enhancers	HSMM	muscle
17	chr14:63422800-63423000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr14:63422800-63423200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr14:63422800-63424400	Enhancers	HMEC	breast
20	chr14:63422800-63424600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr14:63422800-63425200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr14:63422800-63425200	Enhancers	NH-A	brain
23	chr14:63422800-63428600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:63423000-63425000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr14:63423200-63424600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr14:63423600-63424400	Enhancers	NHEK	skin
27	chr14:63423800-63424600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr14:63424000-63424600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr14:63424000-63424800	Enhancers	HSMMtube	muscle
30	chr14:63424200-63425000	Enhancers	NHDF-Ad	bronchial
31	chr14:63424600-63425000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr14:63425600-63426800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr14:63426800-63427000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr14:63428400-63428800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
35	chr14:63428600-63428800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr14:63431000-63431200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr14:63431800-63432000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr14:63435000-63435400	Enhancers	HUES48 Cell Line	embryonic stem cell

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