Variant report

Variant	esv1846944
Chromosome Location	chr6:165271534-165276034
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	chr6:165271396..165272279-chr6:165462865..165463466,2	MCF-7	breast:

Extended variants
information (count: 131 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559225973	chr6:165273002-165273003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs563621093	chr6:165273018-165273019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs185911967	chr6:165273047-165273048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6902206	chr6:165273078-165273079	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs548806806	chr6:165273105-165273106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565535560	chr6:165273108-165273109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs188457261	chr6:165273115-165273116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149572682	chr6:165273164-165273165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571222844	chr6:165273194-165273195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs561109743	chr6:165273207-165273208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs398110919	chr6:165273217-165273218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537074228	chr6:165273236-165273237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs377318960	chr6:165273243-165273244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs556663436	chr6:165273322-165273323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368600582	chr6:165273346-165273347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570396374	chr6:165273367-165273368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536143907	chr6:165273380-165273381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs28474954	chr6:165273390-165273391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs4506023	chr6:165273433-165273434	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs572678486	chr6:165273434-165273435	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs150047797	chr6:165273439-165273440	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs541225938	chr6:165273489-165273490	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs558247438	chr6:165273490-165273491	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs7356835	chr6:165273510-165273511	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs543826502	chr6:165273513-165273514	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs563334048	chr6:165273545-165273546	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs577544068	chr6:165273556-165273557	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs542516406	chr6:165273597-165273598	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs367750109	chr6:165273598-165273599	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs115237909	chr6:165273612-165273613	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs551261681	chr6:165273617-165273618	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs144578492	chr6:165273638-165273639	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs139412753	chr6:165273685-165273686	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs550589148	chr6:165273700-165273701	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs144081670	chr6:165273710-165273711	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs4639310	chr6:165273748-165273749	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs186537225	chr6:165273749-165273750	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs117007129	chr6:165273807-165273808	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs4569942	chr6:165273815-165273816	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs191096086	chr6:165273831-165273832	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs578079682	chr6:165273832-165273833	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs183317810	chr6:165273852-165273853	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs187010523	chr6:165273868-165273869	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs573708195	chr6:165273871-165273872	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs542580726	chr6:165273876-165273877	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs559247141	chr6:165273907-165273908	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs528354741	chr6:165273934-165273935	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs146004248	chr6:165273941-165273942	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs4538683	chr6:165273973-165273974	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs548363677	chr6:165273998-165273999	Enhancers Weak transcription Flanking Active TSS	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
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
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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	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
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	21138945	CNVD
Ovarian cancer	22355333	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:165273000-165273800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr6:165273200-165273800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:165273200-165273800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr6:165273400-165273800	Active TSS	Brain Angular Gyrus	brain
5	chr6:165273400-165273800	Active TSS	Brain Anterior Caudate	brain
6	chr6:165273400-165273800	Active TSS	Brain Hippocampus Middle	brain
7	chr6:165273400-165273800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr6:165273400-165273800	Active TSS	Brain Substantia Nigra	brain
9	chr6:165273400-165273800	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr6:165273400-165273800	Enhancers	Left Ventricle	heart
11	chr6:165273400-165274000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:165273400-165274200	Enhancers	Fetal Heart	heart
13	chr6:165273800-165274000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr6:165273800-165274800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:165274000-165274400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:165274400-165275600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:165274800-165275000	Enhancers	Brain Hippocampus Middle	brain
18	chr6:165274800-165275800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:165275600-165275800	Enhancers	Cortex derived primary cultured neurospheres	brain

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