Variant report

Variant	nsv1037277
Chromosome Location	chr14:62662602-62786567
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1936 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1936 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180757015	chr14:62673022-62673023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs141541860	chr14:62673064-62673065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs376625453	chr14:62673066-62673067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546265339	chr14:62673070-62673071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10130514	chr14:62673092-62673093	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs573248865	chr14:62673114-62673115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533518039	chr14:62673167-62673168	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185802179	chr14:62673171-62673172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs10142690	chr14:62673192-62673193	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs150882832	chr14:62673208-62673209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532342201	chr14:62673217-62673218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552483473	chr14:62673232-62673233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138245517	chr14:62673250-62673251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs534641355	chr14:62673273-62673274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554045520	chr14:62673309-62673310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12880740	chr14:62673343-62673344	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs568163468	chr14:62673355-62673356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536700406	chr14:62673367-62673368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576718048	chr14:62673413-62673414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs372923865	chr14:62673417-62673418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535461980	chr14:62673441-62673442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539640907	chr14:62673448-62673449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553655574	chr14:62673494-62673495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190173725	chr14:62673497-62673498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181719641	chr14:62673502-62673503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs370076165	chr14:62673511-62673512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs77649375	chr14:62673521-62673522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575819933	chr14:62673544-62673545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs186080506	chr14:62673546-62673547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564570184	chr14:62673563-62673564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374252496	chr14:62673569-62673570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532377296	chr14:62673573-62673574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552071305	chr14:62673599-62673600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530837507	chr14:62673602-62673603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs545440236	chr14:62673608-62673609	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528346602	chr14:62673620-62673621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544227701	chr14:62673658-62673659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376029864	chr14:62673684-62673685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113805407	chr14:62673733-62673734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149642237	chr14:62673741-62673742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369648177	chr14:62673755-62673756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10131217	chr14:62673825-62673826	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs530414119	chr14:62673872-62673873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550306950	chr14:62673879-62673880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs112789291	chr14:62673883-62673884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs540056152	chr14:62673891-62673892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs546259503	chr14:62673898-62673899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs553254487	chr14:62673924-62673925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566244939	chr14:62673937-62673938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567172270	chr14:62673942-62673943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	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
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Intellectual disability	21811512	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:166 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:62673000-62674000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr14:62673200-62678200	Enhancers	Hela-S3	cervix
3	chr14:62673400-62673600	Enhancers	NH-A	brain
4	chr14:62673400-62673600	Enhancers	Osteobl	bone
5	chr14:62673400-62673800	Enhancers	HUVEC	blood vessel
6	chr14:62673600-62673800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr14:62673600-62673800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:62673600-62673800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr14:62673600-62675600	Weak transcription	Osteobl	bone
10	chr14:62673800-62675400	Weak transcription	HUVEC	blood vessel
11	chr14:62673800-62676600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr14:62674000-62677000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr14:62674200-62675600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr14:62674400-62675400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr14:62675400-62675800	Enhancers	HSMM	muscle
16	chr14:62675400-62676000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr14:62675400-62676800	Enhancers	NH-A	brain
18	chr14:62675400-62677400	Enhancers	HUVEC	blood vessel
19	chr14:62675400-62677400	Enhancers	NHDF-Ad	bronchial
20	chr14:62675400-62677400	Enhancers	NHLF	lung
21	chr14:62675400-62677600	Enhancers	NHEK	skin
22	chr14:62675600-62675800	Enhancers	Osteobl	bone
23	chr14:62675600-62676400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr14:62675600-62677000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr14:62675600-62677400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr14:62675600-62677400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr14:62675600-62677400	Enhancers	HMEC	breast
28	chr14:62675600-62677800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr14:62675800-62676600	Weak transcription	Osteobl	bone
30	chr14:62675800-62677200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr14:62676000-62676400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr14:62676000-62677600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr14:62676200-62676800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr14:62676400-62677800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr14:62676600-62677200	Enhancers	Osteobl	bone
36	chr14:62676600-62677400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr14:62676800-62678000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr14:62677000-62677600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr14:62677400-62679800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr14:62677400-62680000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr14:62677400-62680000	Weak transcription	HMEC	breast
42	chr14:62677600-62677800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr14:62677600-62677800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr14:62677600-62680000	Weak transcription	NHEK	skin
45	chr14:62677800-62680200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr14:62677800-62682400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr14:62678200-62678600	Weak transcription	Hela-S3	cervix
48	chr14:62678600-62683200	Enhancers	Hela-S3	cervix
49	chr14:62679800-62680400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr14:62680000-62680200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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