Variant report

Variant	esv3368681
Chromosome Location	chr6:69682552-69687715
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:69685059..69685616-chr6:70439397..70440382,2	MCF-7	breast:
2	chr6:69683147..69685406-chr6:69688911..69691251,2	K562	blood:
3	chr6:69682967..69685609-chr6:69690760..69692583,2	K562	blood:
4	chr6:69676667..69679537-chr6:69686722..69688400,2	K562	blood:
5	chr6:69676667..69679065-chr6:69686722..69689222,2	K562	blood:

Extended variants
information (count: 175 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:175 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540411310	chr6:69682568-69682569	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs189069056	chr6:69682605-69682606	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549321849	chr6:69682624-69682625	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529004788	chr6:69682643-69682644	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567520020	chr6:69682651-69682652	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542674925	chr6:69682668-69682669	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181457977	chr6:69682705-69682706	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531292569	chr6:69682714-69682715	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs551745048	chr6:69682854-69682855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552914311	chr6:69682867-69682868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201645126	chr6:69682892-69682893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571554824	chr6:69682970-69682971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2152576	chr6:69682979-69682980	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs547589716	chr6:69682990-69682991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567440803	chr6:69683042-69683043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184652622	chr6:69683045-69683046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555789925	chr6:69683104-69683105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190416429	chr6:69683231-69683232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556599573	chr6:69683269-69683270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372777876	chr6:69683316-69683317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs145132859	chr6:69683327-69683328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9454663	chr6:69683338-69683339	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs62418300	chr6:69683357-69683358	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs561437901	chr6:69683358-69683359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs577895832	chr6:69683373-69683374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181555367	chr6:69683382-69683383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs553963802	chr6:69683416-69683417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540294386	chr6:69683456-69683457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77445966	chr6:69683457-69683458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9454664	chr6:69683474-69683475	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs562602694	chr6:69683525-69683526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs116027997	chr6:69683695-69683696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545003055	chr6:69683912-69683913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs117288143	chr6:69683943-69683944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185922067	chr6:69683950-69683951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191047431	chr6:69683960-69683961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529849631	chr6:69683968-69683969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562944897	chr6:69683972-69683973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549251576	chr6:69684005-69684006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530742611	chr6:69684017-69684018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375878813	chr6:69684040-69684041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569320814	chr6:69684041-69684042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549186789	chr6:69684048-69684049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567479448	chr6:69684049-69684050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149118485	chr6:69684065-69684066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537877107	chr6:69684077-69684078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551383476	chr6:69684157-69684158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141214330	chr6:69684192-69684193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74623752	chr6:69684357-69684358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181833316	chr6:69684398-69684399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Prostate cancer	16573809	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
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:69646000-69685000	Weak transcription	Fetal Lung	lung
2	chr6:69652200-69684600	Weak transcription	Brain Angular Gyrus	brain
3	chr6:69670200-69685000	Weak transcription	Brain Germinal Matrix	brain
4	chr6:69678200-69684600	Weak transcription	Brain Anterior Caudate	brain
5	chr6:69678200-69684600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr6:69678400-69684600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr6:69681000-69684200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr6:69681600-69682800	Strong transcription	Cortex derived primary cultured neurospheres	brain
9	chr6:69682800-69684600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr6:69684200-69685000	Enhancers	Brain Substantia Nigra	brain
11	chr6:69684200-69685400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr6:69684200-69686000	Enhancers	Brain Hippocampus Middle	brain
13	chr6:69684200-69686200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr6:69684600-69685000	Enhancers	Brain Angular Gyrus	brain
15	chr6:69684600-69685400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr6:69684600-69686000	Enhancers	Brain Anterior Caudate	brain
17	chr6:69684600-69686000	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr6:69684600-69686000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr6:69684600-69686200	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr6:69684600-69686200	Enhancers	Brain Cingulate Gyrus	brain
21	chr6:69684800-69685800	Enhancers	Fetal Brain Male	brain
22	chr6:69685000-69685800	Enhancers	Brain Germinal Matrix	brain
23	chr6:69685000-69685800	Weak transcription	Brain Substantia Nigra	brain
24	chr6:69685000-69686200	Enhancers	Fetal Lung	lung
25	chr6:69685000-69700000	Weak transcription	Brain Angular Gyrus	brain
26	chr6:69685200-69685600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:69685200-69685800	Enhancers	Fetal Kidney	kidney
28	chr6:69685400-69700400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr6:69685800-69686600	Enhancers	Brain Substantia Nigra	brain
30	chr6:69685800-69687200	Weak transcription	Brain Germinal Matrix	brain
31	chr6:69685800-69758800	Weak transcription	Fetal Brain Male	brain
32	chr6:69686000-69695400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr6:69686000-69700000	Weak transcription	Brain Hippocampus Middle	brain
34	chr6:69686000-69700400	Weak transcription	Brain Anterior Caudate	brain
35	chr6:69686000-69700600	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr6:69686200-69686600	Weak transcription	Fetal Lung	lung
37	chr6:69686200-69687600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr6:69686200-69695200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr6:69686200-69703400	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr6:69686600-69686800	Enhancers	Fetal Lung	lung
41	chr6:69686600-69700200	Weak transcription	Brain Substantia Nigra	brain
42	chr6:69686800-69706200	Weak transcription	Fetal Lung	lung
43	chr6:69687200-69687800	Enhancers	Brain Germinal Matrix	brain
44	chr6:69687600-69688400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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