Variant report

Variant	esv1958583
Chromosome Location	chr6:119443844-119444439
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:119443357..119446070-chr6:119449134..119451032,2	K562	blood:
2	chr6:119436213..119437742-chr6:119442944..119444775,2	K562	blood:
3	chr6:119215906..119219234-chr6:119443291..119446175,3	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540757949	chr6:119443852-119443853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs375185538	chr6:119443857-119443858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113251453	chr6:119443906-119443907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372964981	chr6:119443949-119443950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147222308	chr6:119443968-119443969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191206083	chr6:119443971-119443972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554393749	chr6:119443982-119443983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552577738	chr6:119444067-119444068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566393381	chr6:119444071-119444072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528635481	chr6:119444152-119444153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548281456	chr6:119444161-119444162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568178705	chr6:119444164-119444165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537265460	chr6:119444234-119444235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557103211	chr6:119444243-119444244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571149127	chr6:119444247-119444248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs115934986	chr6:119444265-119444266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558561482	chr6:119444269-119444270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370294583	chr6:119444275-119444276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs113721931	chr6:119444276-119444277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571942387	chr6:119444280-119444281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536919898	chr6:119444307-119444308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540974083	chr6:119444321-119444322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182527917	chr6:119444332-119444333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs554714752	chr6:119444339-119444340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574550309	chr6:119444365-119444366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs555009943	chr6:119444375-119444376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375475392	chr6:119444398-119444399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563456866	chr6:119444399-119444400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs368816271	chr6:119444408-119444409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs140250308	chr6:119444410-119444411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543446072	chr6:119444431-119444432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	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
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	18698023	CNVD
Mental retardation	18854857	CNVD
Leukemia	18688285	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Liver carcinoma	19366792	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119439200-119448400	Weak transcription	K562	blood
2	chr6:119440400-119444000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr6:119440400-119445400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:119440600-119445400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr6:119440600-119448400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr6:119440800-119445600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr6:119441400-119449200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr6:119441400-119450200	Weak transcription	NH-A	brain
9	chr6:119441800-119450400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr6:119443000-119444200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr6:119443200-119444000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:119443200-119444800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr6:119443400-119444000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:119443800-119444600	Weak transcription	Fetal Lung	lung
15	chr6:119444200-119445600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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