Variant report

Variant	esv10623
Chromosome Location	chr6:131397221-131418195
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 238 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:238 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541130900	chr6:131401407-131401408	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs182420274	chr6:131401429-131401430	Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs113155391	chr6:131401436-131401437	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs572405358	chr6:131401449-131401450	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs543592995	chr6:131401465-131401466	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs147288177	chr6:131401466-131401467	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs140937248	chr6:131401467-131401468	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs188801608	chr6:131401490-131401491	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs7773090	chr6:131401495-131401496	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs375805228	chr6:131401502-131401503	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs532915507	chr6:131401504-131401505	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs9492802	chr6:131401542-131401543	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs10457566	chr6:131401611-131401612	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs374574194	chr6:131401631-131401632	Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs564029472	chr6:131401643-131401644	Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs556330033	chr6:131401677-131401678	Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs192865529	chr6:131401700-131401701	Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs535751662	chr6:131401716-131401717	Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs148594901	chr6:131401740-131401741	Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs560136382	chr6:131401749-131401750	Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs572362587	chr6:131401766-131401767	Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs539777556	chr6:131401810-131401811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575868689	chr6:131401839-131401840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558284642	chr6:131401846-131401847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs6900266	chr6:131401857-131401858	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs6569724	chr6:131401869-131401870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561851807	chr6:131401878-131401879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375999243	chr6:131401903-131401904	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs540991094	chr6:131401921-131401922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532288037	chr6:131401947-131401948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540626268	chr6:131401948-131401949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559565703	chr6:131401950-131401951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs532799854	chr6:131401968-131401969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551310993	chr6:131401995-131401996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563083637	chr6:131401998-131401999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs9398975	chr6:131402032-131402033	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs549988839	chr6:131402044-131402045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568336667	chr6:131402060-131402061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs184245404	chr6:131402140-131402141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs6569725	chr6:131402203-131402204	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs566313981	chr6:131402234-131402235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530139048	chr6:131402255-131402256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142507236	chr6:131402278-131402279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs369862390	chr6:131402313-131402314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs201811802	chr6:131402316-131402317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs35350332	chr6:131402317-131402318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552186550	chr6:131402386-131402387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs9492803	chr6:131402416-131402417	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs375216360	chr6:131402420-131402421	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs566887209	chr6:131402428-131402429	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Autism	22495311	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
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	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
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Kartagener syndrome	16639409	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18592004	CNVD
Cancer	20164919	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131401400-131401800	Active TSS	HepG2	liver
2	chr6:131401800-131403800	Enhancers	HepG2	liver
3	chr6:131403600-131404000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:131403600-131404400	Enhancers	Rectal Mucosa Donor 29	rectum
5	chr6:131404400-131405400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr6:131404800-131405600	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr6:131404800-131405600	Enhancers	Stomach Mucosa	stomach
8	chr6:131404800-131405800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:131405000-131405600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr6:131405000-131405800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr6:131405200-131405600	Enhancers	Small Intestine	intestine
12	chr6:131405200-131405800	Enhancers	Fetal Intestine Small	intestine
13	chr6:131405400-131405800	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr6:131405400-131406000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr6:131406400-131406600	Enhancers	Gastric	stomach
16	chr6:131407400-131407800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
17	chr6:131411000-131411600	Enhancers	Primary B cells from peripheral blood	blood
18	chr6:131411000-131411800	Enhancers	Primary B cells from cord blood	blood

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