Variant report

Variant	esv2752662
Chromosome Location	chr6:81516036-81553964
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	chr6:81521173..81524093-chr6:81524294..81526151,2	MCF-7	breast:
2	chr6:81521173..81524093-chr6:81524294..81526151,2	MCF-7	breast:

Extended variants
information (count: 108 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141606354	chr6:81536609-81536610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547033412	chr6:81536639-81536640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566865388	chr6:81536645-81536646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371629816	chr6:81536675-81536676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190102924	chr6:81536689-81536690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs13193950	chr6:81536714-81536715	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs575514599	chr6:81536730-81536731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559469301	chr6:81536761-81536762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561050638	chr6:81536775-81536776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554140988	chr6:81536797-81536798	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs200422350	chr6:81536799-81536800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528339462	chr6:81536813-81536814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574046973	chr6:81536831-81536832	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs572527638	chr6:81536858-81536859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539855337	chr6:81536861-81536862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553803041	chr6:81536870-81536871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150536298	chr6:81536897-81536898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576894147	chr6:81536947-81536948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs527796244	chr6:81536949-81536950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs79729090	chr6:81536958-81536959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545963122	chr6:81536975-81536976	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs183387585	chr6:81536988-81536989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531637545	chr6:81536993-81536994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs542101600	chr6:81537000-81537001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572479266	chr6:81543205-81543206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs35290983	chr6:81543213-81543214	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs558432916	chr6:81543233-81543234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs187080538	chr6:81543249-81543250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs191179020	chr6:81543250-81543251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563838294	chr6:81543263-81543264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs151209721	chr6:81543308-81543309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542280355	chr6:81543315-81543316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs183633467	chr6:81543341-81543342	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190474288	chr6:81543342-81543343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs527809785	chr6:81543347-81543348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528212769	chr6:81543424-81543425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs140247747	chr6:81543454-81543455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564690655	chr6:81543460-81543461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs145207076	chr6:81543479-81543480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374635198	chr6:81543486-81543487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs567468952	chr6:81543487-81543488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs111442408	chr6:81543522-81543523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549146988	chr6:81543528-81543529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566171082	chr6:81543534-81543535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs535174736	chr6:81543547-81543548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs558287072	chr6:81543580-81543581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571830841	chr6:81543592-81543593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs537264155	chr6:81543606-81543607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs193143096	chr6:81543640-81543641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs574285330	chr6:81543672-81543673	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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
Endometrioid adenocarcinoma	16974079	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	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
Prostate cancer	16573809	CNVD
Breast cancer	16272173	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Ductal carcinoma	22052326	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Tetralogy of Fallot	22912587	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:81536600-81537000	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr6:81543200-81544400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr6:81543600-81544800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:81543800-81544600	Enhancers	Osteobl	bone
5	chr6:81553800-81554200	ZNF genes & repeats	Aorta	Aorta

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