Variant report

Variant	esv3472783
Chromosome Location	chr6:71975048-71977249
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	chr6:71967934..71970546-chr6:71972875..71975088,2	K562	blood:

Extended variants
information (count: 130 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10945296	chr6:71975069-71975070	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs71555475	chr6:71975110-71975111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371775568	chr6:71975112-71975113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs71555476	chr6:71975113-71975114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200160940	chr6:71975115-71975116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs70990360	chr6:71975134-71975135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201272643	chr6:71975135-71975136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs202177885	chr6:71975136-71975137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559292540	chr6:71975184-71975185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538211877	chr6:71975266-71975267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376437513	chr6:71975312-71975313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557306182	chr6:71975320-71975321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369310793	chr6:71975420-71975421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs550048218	chr6:71975501-71975502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373218559	chr6:71975510-71975511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542816091	chr6:71975528-71975529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560966339	chr6:71975539-71975540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs374778679	chr6:71975570-71975571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs13215085	chr6:71975586-71975587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs13215103	chr6:71975626-71975627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546605724	chr6:71975643-71975644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369051797	chr6:71975647-71975648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs62406863	chr6:71975653-71975654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs376546694	chr6:71975654-71975655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532384736	chr6:71975665-71975666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550530477	chr6:71975684-71975685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200376998	chr6:71975686-71975687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs367814778	chr6:71975690-71975691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373169149	chr6:71975698-71975699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377262365	chr6:71975705-71975706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs77543582	chr6:71975718-71975719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534382752	chr6:71975719-71975720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559328711	chr6:71975720-71975721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577579598	chr6:71975733-71975734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139405377	chr6:71975746-71975747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145154278	chr6:71975748-71975749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191783343	chr6:71975756-71975757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs62406864	chr6:71975767-71975768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186936270	chr6:71975769-71975770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192459553	chr6:71975772-71975773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575167341	chr6:71975790-71975791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs13198762	chr6:71975802-71975803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542403139	chr6:71975812-71975813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs13218613	chr6:71975816-71975817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570991608	chr6:71975820-71975821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543771494	chr6:71975821-71975822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12174915	chr6:71975829-71975830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572704511	chr6:71975843-71975844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540002854	chr6:71975901-71975902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71534887	chr6:71975911-71975912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	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
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:71968000-71980400	Weak transcription	Aorta	Aorta
2	chr6:71973000-71976000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:71975800-71976000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:71976000-71976400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:71976000-71976400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr6:71976000-71976400	Active TSS	Spleen	Spleen
7	chr6:71976400-71980000	Weak transcription	Spleen	Spleen
8	chr6:71976400-71980400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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