Variant report

Variant	esv3339001
Chromosome Location	chr6:127242759-127243907
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532812626	chr6:127242782-127242783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs536427011	chr6:127242811-127242812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs117075431	chr6:127242843-127242844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185295448	chr6:127242867-127242868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569958149	chr6:127242877-127242878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372589640	chr6:127242898-127242899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs117536308	chr6:127242924-127242925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548978140	chr6:127242944-127242945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567482818	chr6:127242971-127242972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190066960	chr6:127243003-127243004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs117344712	chr6:127243013-127243014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571765356	chr6:127243039-127243040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539088900	chr6:127243079-127243080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557399923	chr6:127243080-127243081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182700019	chr6:127243116-127243117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536970739	chr6:127243125-127243126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150365176	chr6:127243129-127243130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573416167	chr6:127243158-127243159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs9491674	chr6:127243229-127243230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191723146	chr6:127243250-127243251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183918818	chr6:127243266-127243267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs3055084	chr6:127243269-127243270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577928384	chr6:127243283-127243284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373557394	chr6:127243313-127243314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs62439182	chr6:127243314-127243315	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs577330484	chr6:127243365-127243366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544671931	chr6:127243408-127243409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562967928	chr6:127243449-127243450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530405490	chr6:127243453-127243454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549294769	chr6:127243483-127243484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561015023	chr6:127243487-127243488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572339177	chr6:127243493-127243494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528334881	chr6:127243534-127243535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546481156	chr6:127243636-127243637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571426140	chr6:127243637-127243638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539148076	chr6:127243685-127243686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551064269	chr6:127243686-127243687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs138095688	chr6:127243719-127243720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149502181	chr6:127243745-127243746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536233770	chr6:127243818-127243819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555293203	chr6:127243829-127243830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573463445	chr6:127243850-127243851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373410001	chr6:127243852-127243853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114039016	chr6:127243860-127243861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558744254	chr6:127243871-127243872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Breast cancer	21785460	CNVD
Neurocytoma	17123091	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21958427	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Mental retardation	17847001	CNVD
Cancer	17440070	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:127241800-127244400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr6:127241800-127249000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:127242600-127242800	Enhancers	Placenta Amnion	Placenta Amnion

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