Variant report

Variant	esv3364172
Chromosome Location	chr6:68032031-68034379
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:68028783..68032532-chr6:68036632..68039695,4	K562	blood:

Extended variants
information (count: 96 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537671708	chr6:68032042-68032043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532620529	chr6:68032131-68032132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs151337413	chr6:68032136-68032137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs180999654	chr6:68032152-68032153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs35160567	chr6:68032200-68032201	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs185020437	chr6:68032215-68032216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189959994	chr6:68032224-68032225	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs13212110	chr6:68032226-68032227	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs140597791	chr6:68032232-68032233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569428333	chr6:68032257-68032258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114375948	chr6:68032260-68032261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373592792	chr6:68032261-68032262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs78601490	chr6:68032325-68032326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368033961	chr6:68032348-68032349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537542837	chr6:68032367-68032368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs571993219	chr6:68032403-68032404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541011005	chr6:68032437-68032438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs13212494	chr6:68032441-68032442	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs181181952	chr6:68032444-68032445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544050297	chr6:68032491-68032492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187035344	chr6:68032501-68032502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532721458	chr6:68032504-68032505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547914102	chr6:68032529-68032530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571831279	chr6:68032571-68032572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145365633	chr6:68032574-68032575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs559791181	chr6:68032601-68032602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4463242	chr6:68032642-68032643	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs548134131	chr6:68032658-68032659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs567246643	chr6:68032675-68032676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4394193	chr6:68032686-68032687	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs549650719	chr6:68032700-68032701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569543186	chr6:68032701-68032702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191425830	chr6:68032724-68032725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183390366	chr6:68032729-68032730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112610921	chr6:68032730-68032731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565726212	chr6:68032750-68032751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576284857	chr6:68032782-68032783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368429799	chr6:68032783-68032784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534324598	chr6:68032927-68032928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372321482	chr6:68032931-68032932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs578080385	chr6:68032932-68032933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543906767	chr6:68032940-68032941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557501752	chr6:68032942-68032943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574121039	chr6:68032946-68032947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542849264	chr6:68032948-68032949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554575345	chr6:68032963-68032964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544144573	chr6:68032969-68032970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75690461	chr6:68032975-68032976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs199843364	chr6:68033063-68033064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537772920	chr6:68033102-68033103	Weak transcription	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
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
Endometrioid adenocarcinoma	16974079	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	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	21364760	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	20164919	CNVD
Wilms tumour	21544195	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:68030400-68035600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:68031800-68032400	Enhancers	Pancreatic Islets	Pancreatic Islet

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