Variant report

Variant	esv3389685
Chromosome Location	chr6:114065159-114066207
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 116 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561729282	chr6:114065211-114065212	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576738574	chr6:114065221-114065222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534607593	chr6:114065244-114065245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552958980	chr6:114065252-114065253	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574334754	chr6:114065267-114065268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541773691	chr6:114065303-114065304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs146641179	chr6:114065316-114065317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575363324	chr6:114065361-114065362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546427805	chr6:114065374-114065375	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2498753	chr6:114065397-114065398	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs35174405	chr6:114065413-114065414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs143765170	chr6:114065447-114065448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs71731976	chr6:114065448-114065449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs386408307	chr6:114065450-114065451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs71025067	chr6:114065453-114065454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368002627	chr6:114065454-114065455	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371581304	chr6:114065456-114065457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2463309	chr6:114065491-114065492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189645870	chr6:114065531-114065532	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562147572	chr6:114065551-114065552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371115973	chr6:114065556-114065557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9488255	chr6:114065558-114065559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533244023	chr6:114065635-114065636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529288407	chr6:114065645-114065646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs11968548	chr6:114065665-114065666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183373921	chr6:114065675-114065676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569014862	chr6:114065696-114065697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2498754	chr6:114065733-114065734	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs551996668	chr6:114065767-114065768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570288193	chr6:114065775-114065776	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs79719409	chr6:114065787-114065788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553007029	chr6:114065833-114065834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs149364875	chr6:114065860-114065861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs187737489	chr6:114065862-114065863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556955303	chr6:114065866-114065867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs372282803	chr6:114065912-114065913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs575451772	chr6:114065956-114065957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs144798632	chr6:114065957-114065958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148551517	chr6:114065995-114065996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374914059	chr6:114066000-114066001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs111854573	chr6:114066012-114066013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs527639151	chr6:114066090-114066091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142027601	chr6:114066091-114066092	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540788235	chr6:114066104-114066105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562268108	chr6:114066147-114066148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540112291	chr6:114066151-114066152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146147356	chr6:114066157-114066158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544211066	chr6:114066177-114066178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562535956	chr6:114066191-114066192	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs552121551	chr6:114066199-114066200	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Basal cell lymphoma	17170743	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	19220326	CNVD
Cancer	17160897	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Acute lymphoblastic leukemia	17229543	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114064000-114065800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr6:114064200-114066200	Weak transcription	Fetal Heart	heart
3	chr6:114065000-114067800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:114065800-114066000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:114065800-114066400	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr6:114065800-114066400	Enhancers	Fetal Lung	lung
7	chr6:114065800-114066400	Enhancers	Fetal Muscle Leg	muscle
8	chr6:114065800-114066400	Enhancers	Placenta	Placenta
9	chr6:114065800-114066400	Enhancers	HepG2	liver
10	chr6:114065800-114066800	Enhancers	Adipose Nuclei	Adipose
11	chr6:114065800-114067200	Enhancers	Psoas Muscle	Psoas
12	chr6:114065800-114067200	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr6:114066000-114066400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:114066000-114066600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr6:114066000-114066800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:114066000-114067000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr6:114066000-114067200	Enhancers	Colon Smooth Muscle	Colon
18	chr6:114066000-114067200	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr6:114066200-114066400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr6:114066200-114066600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr6:114066200-114067200	Enhancers	Fetal Heart	heart

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