Variant report

Variant	esv274939
Chromosome Location	chr6:102246639-102250749
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	chr6:102241098..102243471-chr6:102247129..102249278,2	K562	blood:

Extended variants
information (count: 113 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72956342	chr6:102246750-102246751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574236421	chr6:102246758-102246759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145309551	chr6:102246856-102246857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541632396	chr6:102246868-102246869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555614836	chr6:102246954-102246955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs145971947	chr6:102246965-102246966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs533029147	chr6:102247020-102247021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190453993	chr6:102247030-102247031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572296260	chr6:102247036-102247037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182169216	chr6:102247042-102247043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536536369	chr6:102247108-102247109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139846820	chr6:102247124-102247125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs555291415	chr6:102247137-102247138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149434056	chr6:102247152-102247153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs71914353	chr6:102247153-102247154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs113335603	chr6:102247164-102247165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185148919	chr6:102247168-102247169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs113835816	chr6:102247169-102247170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112645655	chr6:102247180-102247181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs548827305	chr6:102247181-102247182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567228300	chr6:102247182-102247183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs9498711	chr6:102247191-102247192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73761431	chr6:102247210-102247211	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs529735243	chr6:102247233-102247234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs114757542	chr6:102247267-102247268	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs571387943	chr6:102247275-102247276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs572705616	chr6:102247307-102247308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539900117	chr6:102247313-102247314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558016145	chr6:102247336-102247337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570025857	chr6:102247338-102247339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537445687	chr6:102247353-102247354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs77995669	chr6:102247370-102247371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs574401521	chr6:102247374-102247375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557970775	chr6:102247390-102247391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs117873092	chr6:102247406-102247407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs578142047	chr6:102247461-102247462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs545075875	chr6:102247484-102247485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs138570066	chr6:102247570-102247571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs41285446	chr6:102247577-102247578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370227684	chr6:102247579-102247580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs112144449	chr6:102248454-102248455	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs571870763	chr6:102248551-102248552	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs147945051	chr6:102248577-102248578	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs189676722	chr6:102248606-102248607	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs181074589	chr6:102248656-102248657	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs185962317	chr6:102248659-102248660	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs56800677	chr6:102248670-102248671	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs565103466	chr6:102248675-102248676	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs572758038	chr6:102248704-102248705	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs533451965	chr6:102248762-102248763	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	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
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	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
Lung adenocarcinoma	21935476	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
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17170743	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21785460	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Obesity	21045960	CNVD
Liver carcinoma	19366792	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Urothelial carcinoma	21177765	CNVD
Autism	22543975	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:102246000-102247600	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr6:102246000-102247600	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr6:102246200-102247400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:102246400-102246800	Enhancers	H1 Cell Line	embryonic stem cell
5	chr6:102246400-102246800	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr6:102246400-102246800	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr6:102246400-102247000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr6:102246400-102247600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr6:102248400-102248800	Active TSS	Liver	Liver
10	chr6:102248600-102249000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr6:102248800-102249000	Flanking Active TSS	Liver	Liver
12	chr6:102249000-102251000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:102249000-102253600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:102250600-102251800	Enhancers	NH-A	brain

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