Variant report

Variant	esv3378011
Chromosome Location	chr5:8206352-8210850
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 144 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:144 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371186216	chr5:8206380-8206381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs3843472	chr5:8206385-8206386	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs111309844	chr5:8206408-8206409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs181593021	chr5:8206414-8206415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532360102	chr5:8206421-8206422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs552642218	chr5:8206642-8206643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs367935156	chr5:8206698-8206699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185761468	chr5:8206747-8206748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192416530	chr5:8206749-8206750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548407223	chr5:8206762-8206763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs144465604	chr5:8206775-8206776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147979624	chr5:8206786-8206787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77131794	chr5:8206788-8206789	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs576776751	chr5:8206816-8206817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373939630	chr5:8206852-8206853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs3857344	chr5:8206881-8206882	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs553120286	chr5:8206915-8206916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573010912	chr5:8206969-8206970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs13356704	chr5:8208002-8208003	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs375359608	chr5:8208053-8208054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115852895	chr5:8208054-8208055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558046968	chr5:8208080-8208081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555107499	chr5:8208087-8208088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs3912627	chr5:8208088-8208089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs187434733	chr5:8208121-8208122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs193284790	chr5:8208127-8208128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559368106	chr5:8208145-8208146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528457728	chr5:8208201-8208202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115600323	chr5:8208222-8208223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541924518	chr5:8208239-8208240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10866587	chr5:8208285-8208286	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs531151798	chr5:8208308-8208309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185516041	chr5:8208320-8208321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571006073	chr5:8208323-8208324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533718121	chr5:8208362-8208363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547307024	chr5:8208418-8208419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577504981	chr5:8208425-8208426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs535390136	chr5:8208434-8208435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs36052019	chr5:8208464-8208465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539484963	chr5:8208465-8208466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568822765	chr5:8208469-8208470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs11134294	chr5:8208508-8208509	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs143341298	chr5:8208521-8208522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs577765001	chr5:8208546-8208547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369984916	chr5:8208566-8208567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs372380462	chr5:8208569-8208570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs144787499	chr5:8208570-8208571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs34403397	chr5:8208583-8208584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs368971141	chr5:8208590-8208591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553603688	chr5:8208599-8208600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Melanoma	22183965	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Ovarian cancer	19193619	CNVD
Hepatocellular carcinoma	16785998	CNVD
Cancer	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:8206000-8207000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:8208000-8213200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr5:8208400-8208800	Enhancers	Pancreas	Pancrea
4	chr5:8208600-8208800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:8208600-8208800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:8208800-8212400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:8209200-8209400	Bivalent Enhancer	Fetal Brain Male	brain
8	chr5:8209800-8210400	Active TSS	Brain Anterior Caudate	brain
9	chr5:8210400-8213400	Weak transcription	Brain Anterior Caudate	brain

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