Variant report

Variant	esv3390982
Chromosome Location	chr6:80877783-80879031
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	chr6:80862264..80864483-chr6:80875848..80878156,2	K562	blood:

Extended variants
information (count: 80 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71565083	chr6:80877796-80877797	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112389650	chr6:80877799-80877800	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375478398	chr6:80877801-80877802	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs115398750	chr6:80877819-80877820	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs563796677	chr6:80877832-80877833	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs192435454	chr6:80877896-80877897	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs549120237	chr6:80877919-80877920	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs111846009	chr6:80877936-80877937	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs528604467	chr6:80877942-80877943	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs551581757	chr6:80877944-80877945	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs112587078	chr6:80877954-80877955	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs199780878	chr6:80878015-80878016	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2476827	chr6:80878031-80878032	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs542721582	chr6:80878033-80878034	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370386196	chr6:80878052-80878053	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200782363	chr6:80878054-80878055	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541040515	chr6:80878076-80878077	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs13201886	chr6:80878093-80878094	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140663956	chr6:80878123-80878124	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370506730	chr6:80878124-80878125	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201102139	chr6:80878158-80878159	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111210118	chr6:80878260-80878261	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs550068846	chr6:80878261-80878262	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549040889	chr6:80878264-80878265	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535647262	chr6:80878304-80878305	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377616675	chr6:80878328-80878329	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370705026	chr6:80878330-80878331	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373078166	chr6:80878349-80878350	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188376393	chr6:80878387-80878388	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572258137	chr6:80878400-80878401	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541171845	chr6:80878415-80878416	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557543967	chr6:80878420-80878421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74420307	chr6:80878440-80878441	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565237138	chr6:80878460-80878461	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374035893	chr6:80878498-80878499	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373894847	chr6:80878500-80878501	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139630496	chr6:80878508-80878509	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs72908865	chr6:80878512-80878513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529505472	chr6:80878514-80878515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115532215	chr6:80878529-80878530	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375099386	chr6:80878570-80878571	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs193196762	chr6:80878571-80878572	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs398124576	chr6:80878593-80878594	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs398124577	chr6:80878602-80878603	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs398124578	chr6:80878607-80878608	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs398124579	chr6:80878616-80878617	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs398124580	chr6:80878620-80878621	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs398124581	chr6:80878622-80878623	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371518124	chr6:80878623-80878624	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376078325	chr6:80878634-80878635	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
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
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:80836400-80891200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:80837000-80895200	Weak transcription	Fetal Intestine Small	intestine
3	chr6:80839200-80889600	Weak transcription	Lung	lung
4	chr6:80841200-80895800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr6:80842200-80914200	Weak transcription	Primary B cells from cord blood	blood
6	chr6:80853800-80891800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:80855200-80880200	Weak transcription	Brain Angular Gyrus	brain
8	chr6:80855200-80907000	Weak transcription	Brain Hippocampus Middle	brain
9	chr6:80855200-80907200	Weak transcription	Ovary	ovary
10	chr6:80855400-80886200	Weak transcription	Fetal Muscle Leg	muscle
11	chr6:80855400-80895400	Weak transcription	Fetal Stomach	stomach
12	chr6:80855800-80896000	Weak transcription	Aorta	Aorta
13	chr6:80856800-80878400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr6:80858400-80880200	Weak transcription	Dnd41	blood
15	chr6:80863200-80907200	Weak transcription	Psoas Muscle	Psoas
16	chr6:80868600-80891200	Weak transcription	Pancreas	Pancrea
17	chr6:80868800-80880200	Weak transcription	Fetal Heart	heart
18	chr6:80870200-80880400	Weak transcription	Gastric	stomach
19	chr6:80870200-80884200	Weak transcription	Left Ventricle	heart
20	chr6:80870800-80886400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr6:80871400-80895800	Weak transcription	Right Ventricle	heart
22	chr6:80872000-80883000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr6:80873800-80880000	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr6:80873800-80880200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr6:80873800-80883000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr6:80873800-80883000	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr6:80874000-80878000	Weak transcription	Small Intestine	intestine
28	chr6:80874000-80879200	Weak transcription	Fetal Thymus	thymus
29	chr6:80874000-80879400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr6:80874000-80881600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:80874000-80882600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr6:80874000-80884800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr6:80874000-80891000	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr6:80874000-80894000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr6:80874200-80877800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr6:80874200-80884400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr6:80874200-80887600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr6:80874200-80888400	Weak transcription	Fetal Intestine Large	intestine
39	chr6:80874200-80899200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr6:80874600-80886200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr6:80875000-80881800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr6:80875000-80891200	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr6:80875200-80883000	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr6:80875200-80884600	Weak transcription	Primary T cells from cord blood	blood
45	chr6:80875200-80886400	Weak transcription	Fetal Muscle Trunk	muscle
46	chr6:80875200-80893200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr6:80875400-80877800	Weak transcription	Thymus	Thymus
48	chr6:80875400-80881400	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr6:80875400-80883000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr6:80875400-80883600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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