Variant report

Variant	esv3397134
Chromosome Location	chr6:118243259-118247457
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 258 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:258 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35880737	chr6:118243274-118243275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs193286150	chr6:118243323-118243324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs79579500	chr6:118243355-118243356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571523349	chr6:118243357-118243358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550967319	chr6:118243464-118243465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs17079565	chr6:118243474-118243475	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs116730880	chr6:118243478-118243479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551872419	chr6:118243494-118243495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs566923608	chr6:118243529-118243530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534195341	chr6:118243578-118243579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549441301	chr6:118243580-118243581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568696318	chr6:118243581-118243582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs62432050	chr6:118243599-118243600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567662186	chr6:118243662-118243663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368007787	chr6:118243705-118243706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144340772	chr6:118243713-118243714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs80258994	chr6:118243719-118243720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184225270	chr6:118243726-118243727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147013111	chr6:118243734-118243735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538429843	chr6:118243748-118243749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553458417	chr6:118243795-118243796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535970920	chr6:118243806-118243807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571846958	chr6:118243820-118243821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79968687	chr6:118243823-118243824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375813607	chr6:118243826-118243827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs578084783	chr6:118243829-118243830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189634568	chr6:118243852-118243853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372164050	chr6:118243853-118243854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148770082	chr6:118243856-118243857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544904007	chr6:118243866-118243867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs60114157	chr6:118243867-118243868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563011950	chr6:118243922-118243923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1338978	chr6:118243933-118243934	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs71570876	chr6:118243960-118243961	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs372117361	chr6:118243966-118243967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560659992	chr6:118243997-118243998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138551106	chr6:118244016-118244017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571864354	chr6:118244035-118244036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145964047	chr6:118244096-118244097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567700151	chr6:118244097-118244098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs371072456	chr6:118244135-118244136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1338977	chr6:118244138-118244139	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs550072687	chr6:118244200-118244201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374812250	chr6:118244300-118244301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571407572	chr6:118244355-118244356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538913728	chr6:118244387-118244388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78327491	chr6:118244412-118244413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139826492	chr6:118244456-118244457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74583845	chr6:118244486-118244487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545340117	chr6:118244509-118244510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
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
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	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
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
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Salivary gland tumor	18059337	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118242000-118243400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr6:118242000-118249800	Weak transcription	Fetal Brain Male	brain
3	chr6:118242400-118247600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:118242800-118251400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:118243200-118248600	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr6:118246200-118246400	Enhancers	Brain Angular Gyrus	brain

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