Variant report

Variant	esv1830948
Chromosome Location	chr6:80159472-80161314
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552151981	chr6:80159508-80159509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs377049252	chr6:80159542-80159543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140092437	chr6:80159556-80159557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144089666	chr6:80159633-80159634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192366806	chr6:80159647-80159648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184911168	chr6:80159649-80159650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188063222	chr6:80159650-80159651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144984106	chr6:80159656-80159657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577125922	chr6:80159670-80159671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549374154	chr6:80159671-80159672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539705122	chr6:80159678-80159679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556539529	chr6:80159681-80159682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371799877	chr6:80159693-80159694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145445145	chr6:80159743-80159744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116953035	chr6:80159753-80159754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs562195524	chr6:80159823-80159824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572558824	chr6:80159833-80159834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540478749	chr6:80159976-80159977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546600853	chr6:80160016-80160017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532444266	chr6:80160068-80160069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554314726	chr6:80160151-80160152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs72897772	chr6:80160240-80160241	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs113862659	chr6:80160241-80160242	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs531244539	chr6:80160249-80160250	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs547774435	chr6:80160284-80160285	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs567862523	chr6:80160325-80160326	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs192095210	chr6:80160339-80160340	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs61189442	chr6:80160370-80160371	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs2803191	chr6:80160375-80160376	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs540150779	chr6:80160393-80160394	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs556604805	chr6:80160416-80160417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs374421560	chr6:80160430-80160431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535518429	chr6:80160431-80160432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2803192	chr6:80160434-80160435	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs572575720	chr6:80160440-80160441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs72897776	chr6:80160459-80160460	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs554024040	chr6:80160460-80160461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs371573402	chr6:80160487-80160488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552134531	chr6:80160523-80160524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576993427	chr6:80160549-80160550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs545964937	chr6:80160563-80160564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs140926770	chr6:80160611-80160612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185398966	chr6:80160634-80160635	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531632416	chr6:80160643-80160644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs565757653	chr6:80160656-80160657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs375050511	chr6:80160679-80160680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs368917729	chr6:80160686-80160687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541430896	chr6:80160731-80160732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs9443671	chr6:80160741-80160742	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs527401669	chr6:80160744-80160745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
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
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
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80151000-80160800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:80153000-80163200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr6:80154200-80162400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:80158600-80162600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:80160200-80160400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:80160200-80163000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr6:80160400-80161000	Enhancers	HepG2	liver
8	chr6:80160400-80162600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:80160800-80161000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:80160800-80161000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:80161000-80161200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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