Variant report

Variant	esv3519012
Chromosome Location	chr14:63722999-63725947
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 119 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544839838	chr14:63723017-63723018	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191240110	chr14:63723095-63723096	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375504752	chr14:63723141-63723142	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs144117081	chr14:63723161-63723162	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs578094816	chr14:63723174-63723175	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540734698	chr14:63723175-63723176	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs560543637	chr14:63723207-63723208	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs529321462	chr14:63723224-63723225	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11845716	chr14:63723258-63723259	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs562042458	chr14:63723259-63723260	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530710874	chr14:63723296-63723297	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs138810458	chr14:63723304-63723305	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571241181	chr14:63723308-63723309	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs116725872	chr14:63723343-63723344	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs117924373	chr14:63723396-63723397	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546984408	chr14:63723423-63723424	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141982908	chr14:63723424-63723425	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535851386	chr14:63723439-63723440	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566193902	chr14:63723440-63723441	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150789010	chr14:63723482-63723483	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139211837	chr14:63723518-63723519	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569576550	chr14:63723565-63723566	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs58021284	chr14:63723602-63723603	Enhancers Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs374926574	chr14:63723642-63723643	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs558384866	chr14:63723685-63723686	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112114534	chr14:63723686-63723687	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12887174	chr14:63723693-63723694	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372111654	chr14:63723715-63723716	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370435176	chr14:63723744-63723745	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554342304	chr14:63723772-63723773	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200837304	chr14:63723779-63723780	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181316428	chr14:63723790-63723791	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543090639	chr14:63723860-63723861	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112912328	chr14:63723879-63723880	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs8012814	chr14:63723889-63723890	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs533083586	chr14:63723910-63723911	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs57670156	chr14:63723929-63723930	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544179874	chr14:63723930-63723931	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs578032521	chr14:63723931-63723932	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368726863	chr14:63723941-63723942	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11463617	chr14:63723954-63723955	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372637478	chr14:63723963-63723964	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549869623	chr14:63724028-63724029	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564375527	chr14:63724065-63724066	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532973517	chr14:63724104-63724105	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554317859	chr14:63724117-63724118	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114406860	chr14:63724131-63724132	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184948518	chr14:63724157-63724158	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73268322	chr14:63724193-63724194	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528948575	chr14:63724215-63724216	Weak transcription Enhancers Strong 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
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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63676400-63733600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr14:63700600-63732400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:63708000-63733600	Weak transcription	Left Ventricle	heart
4	chr14:63716000-63723400	Strong transcription	HUVEC	blood vessel
5	chr14:63716000-63729000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr14:63716000-63754600	Weak transcription	Aorta	Aorta
7	chr14:63716800-63731400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr14:63717400-63730200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr14:63717400-63734200	Weak transcription	Fetal Lung	lung
10	chr14:63717400-63754800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr14:63717800-63733600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr14:63718800-63728200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr14:63720600-63725800	Strong transcription	Fetal Stomach	stomach
14	chr14:63720800-63723200	Genic enhancers	Fetal Muscle Leg	muscle
15	chr14:63720800-63733800	Weak transcription	NH-A	brain
16	chr14:63721000-63733600	Weak transcription	Lung	lung
17	chr14:63721200-63733600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr14:63721400-63728400	Weak transcription	Brain Anterior Caudate	brain
19	chr14:63721800-63723200	Strong transcription	Cortex derived primary cultured neurospheres	brain
20	chr14:63721800-63733600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr14:63722400-63723200	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr14:63722600-63723200	Weak transcription	Right Ventricle	heart
23	chr14:63722800-63723000	Enhancers	Right Atrium	heart
24	chr14:63723200-63723400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:63723200-63723400	Enhancers	Right Ventricle	heart
26	chr14:63723200-63723600	Enhancers	Fetal Muscle Leg	muscle
27	chr14:63723200-63727400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr14:63723200-63727400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr14:63723400-63725400	Weak transcription	HUVEC	blood vessel
30	chr14:63723600-63723800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr14:63723600-63732600	Weak transcription	Fetal Muscle Leg	muscle
32	chr14:63723800-63724400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr14:63724000-63724200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:63724000-63724400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:63724400-63724600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr14:63724600-63733600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr14:63725200-63729400	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr14:63725400-63726000	Strong transcription	HUVEC	blood vessel
39	chr14:63725800-63730400	Weak transcription	Fetal Stomach	stomach

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