Variant report

Variant	esv1807340
Chromosome Location	chr6:77844300-77877447
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	chr6:77789816..77792287-chr6:77876567..77879550,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MYO6-14	chr6:77861536-77861691	NONHSAT113655
2	lnc-MYO6-14	chr6:77860253-77860997	NONHSAT113655
3	lnc-HTR1B-2	chr6:77860918-77860954	XLOC_005768
4	lnc-MYO6-15	chr6:77849239-77849469	NONHSAT113650

Variant related genes	Relation type
PRKD3	miRNA target sites

Extended variants
information (count: 205 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:205 , 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	rs9361195	chr6:77844300-77844301	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs576794028	chr6:77844307-77844308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544023122	chr6:77844355-77844356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149864709	chr6:77844380-77844381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574144998	chr6:77844389-77844390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541177101	chr6:77844418-77844419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111475140	chr6:77844450-77844451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559374352	chr6:77844455-77844456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35723815	chr6:77844482-77844483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188279926	chr6:77844512-77844513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192800499	chr6:77844535-77844536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371761428	chr6:77844577-77844578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563279884	chr6:77844582-77844583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9361196	chr6:77844619-77844620	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs147530728	chr6:77844656-77844657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560932026	chr6:77844664-77844665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368619456	chr6:77844679-77844680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9447979	chr6:77844752-77844753	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs570266525	chr6:77844815-77844816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs367876319	chr6:77844823-77844824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546423776	chr6:77844832-77844833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537215248	chr6:77844847-77844848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184818369	chr6:77844853-77844854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111312696	chr6:77844891-77844892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555065428	chr6:77844914-77844915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541609274	chr6:77844996-77844997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12525021	chr6:77845060-77845061	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs540633095	chr6:77845069-77845070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562611095	chr6:77845124-77845125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs79393843	chr6:77845133-77845134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs9443355	chr6:77845182-77845183	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs555986691	chr6:77845189-77845190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142675971	chr6:77845208-77845209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs370668970	chr6:77845209-77845210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77490248	chr6:77845214-77845215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs5023319	chr6:77845215-77845216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs374304748	chr6:77845255-77845256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs140120476	chr6:77845281-77845282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs190096216	chr6:77845290-77845291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577702755	chr6:77845315-77845316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545030538	chr6:77845329-77845330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs191967659	chr6:77845393-77845394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575562776	chr6:77845478-77845479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577562107	chr6:77845513-77845514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184761222	chr6:77845523-77845524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528313765	chr6:77845546-77845547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546799150	chr6:77845575-77845576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565000279	chr6:77845588-77845589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532264880	chr6:77845602-77845603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs550660821	chr6:77845652-77845653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	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
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
Breast cancer	21364760	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:77832600-77847600	Weak transcription	Aorta	Aorta
2	chr6:77835000-77845400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:77845000-77846800	Enhancers	HUVEC	blood vessel
4	chr6:77845000-77847600	Enhancers	NHEK	skin
5	chr6:77845000-77847800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:77845400-77846600	Enhancers	HMEC	breast
7	chr6:77845400-77846800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:77845400-77846800	Enhancers	NH-A	brain
9	chr6:77845600-77847600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:77846800-77847200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:77846800-77847200	Weak transcription	HUVEC	blood vessel
12	chr6:77847200-77847600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:77847200-77847800	Enhancers	HUVEC	blood vessel
14	chr6:77854800-77855400	Enhancers	Adipose Nuclei	Adipose
15	chr6:77854800-77855600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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