Variant report

Variant	esv1795494
Chromosome Location	chr6:77933591-77953420
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 740 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:740 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566494625	chr6:77933605-77933606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs190300327	chr6:77933606-77933607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553736032	chr6:77933653-77933654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4463226	chr6:77933661-77933662	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs538903296	chr6:77933685-77933686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7454911	chr6:77933714-77933715	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs75903634	chr6:77933723-77933724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73758540	chr6:77933754-77933755	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs72894625	chr6:77933756-77933757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs28588461	chr6:77933757-77933758	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs138416845	chr6:77933911-77933912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112049805	chr6:77933915-77933916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577055415	chr6:77933916-77933917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs199898992	chr6:77933919-77933920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187119323	chr6:77933926-77933927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544136053	chr6:77933935-77933936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562704511	chr6:77933951-77933952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191449641	chr6:77933996-77933997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4311481	chr6:77934037-77934038	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs560273937	chr6:77934055-77934056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148451746	chr6:77934056-77934057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs57689856	chr6:77934075-77934076	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs570312374	chr6:77934098-77934099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539322726	chr6:77934152-77934153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573780476	chr6:77934166-77934167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550965328	chr6:77934207-77934208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569451264	chr6:77934208-77934209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184132319	chr6:77934253-77934254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188591890	chr6:77934258-77934259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560881145	chr6:77934289-77934290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2874175	chr6:77934303-77934304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201140033	chr6:77934323-77934324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546917740	chr6:77934335-77934336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs182450667	chr6:77934420-77934421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs571524992	chr6:77934506-77934507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115906488	chr6:77934543-77934544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370172710	chr6:77934566-77934567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs202154351	chr6:77934585-77934586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544515366	chr6:77934640-77934641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115990867	chr6:77934654-77934655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs186781651	chr6:77934688-77934689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9361213	chr6:77934704-77934705	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs9448002	chr6:77934709-77934710	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs75861174	chr6:77934721-77934722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552256518	chr6:77934813-77934814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564132250	chr6:77934879-77934880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531176557	chr6:77934891-77934892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1935728	chr6:77934981-77934982	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs370536085	chr6:77935007-77935008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569429953	chr6:77935010-77935011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:77930200-77935400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr6:77933200-77957000	Weak transcription	Aorta	Aorta
3	chr6:77939600-77939800	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr6:77939800-77940000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr6:77941000-77941400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr6:77941200-77942000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr6:77941200-77942400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr6:77941400-77941800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr6:77941400-77941800	Enhancers	HSMMtube	muscle
10	chr6:77941400-77941800	Enhancers	NH-A	brain
11	chr6:77941600-77942200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr6:77941600-77942400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr6:77941800-77952600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr6:77952600-77952800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:77952800-77961400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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