Variant report

Variant	esv2752540
Chromosome Location	chr8:6129102-6144912
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	chr8:6139049..6141857-chr8:6147372..6149538,2	K562	blood:

Extended variants
information (count: 920 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:920 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567849202	chr8:6132012-6132013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528901590	chr8:6132022-6132023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181781495	chr8:6132023-6132024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs565773983	chr8:6132067-6132068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs150388015	chr8:6132068-6132069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73192634	chr8:6132069-6132070	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs571153715	chr8:6132087-6132088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536827691	chr8:6132090-6132091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557254348	chr8:6132135-6132136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144988264	chr8:6132139-6132140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536671388	chr8:6132173-6132174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187569754	chr8:6132180-6132181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs573295612	chr8:6132190-6132191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545566508	chr8:6132192-6132193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565357072	chr8:6132230-6132231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs563688017	chr8:6132250-6132251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575945008	chr8:6132262-6132263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs544784679	chr8:6132300-6132301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs148232808	chr8:6132320-6132321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs561649809	chr8:6132326-6132327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530286976	chr8:6132351-6132352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536258150	chr8:6132353-6132354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs112644001	chr8:6132361-6132362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs75091977	chr8:6132391-6132392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528070022	chr8:6132415-6132416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs372217532	chr8:6132426-6132427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs117688018	chr8:6132476-6132477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536862667	chr8:6132506-6132507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs114299394	chr8:6132508-6132509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs57084818	chr8:6132519-6132520	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs536116440	chr8:6132549-6132550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs190703600	chr8:6132560-6132561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573302261	chr8:6132570-6132571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539021068	chr8:6132595-6132596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs112276107	chr8:6132608-6132609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575782955	chr8:6132627-6132628	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544795196	chr8:6132641-6132642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561287732	chr8:6132642-6132643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574970470	chr8:6132662-6132663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540614368	chr8:6132673-6132674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs61462536	chr8:6132677-6132678	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs534821698	chr8:6132693-6132694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528108070	chr8:6132706-6132707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs7843093	chr8:6132709-6132710	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs564658272	chr8:6132712-6132713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548431861	chr8:6132719-6132720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs149094057	chr8:6132724-6132725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183003793	chr8:6132764-6132765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs371689483	chr8:6132782-6132783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs35222608	chr8:6132784-6132785	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:120)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
abnormal development	18461090	CNVD
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Epilepsy	22083797	CNVD
Acute myeloid leukemia	21251322	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Cancer	20164920	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-small cell lung cancer	21829676	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Prostate cancer	17217626	CNVD
Developmental delay	19128483	CNVD
Neuroticism	17667963	CNVD
Leukoplakia	24403051	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	21364760	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6132000-6132800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr8:6132200-6132800	Enhancers	Spleen	Spleen
3	chr8:6132200-6133600	Enhancers	Pancreas	Pancrea
4	chr8:6132800-6134800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr8:6132800-6149000	Weak transcription	Spleen	Spleen
6	chr8:6134800-6135000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr8:6138400-6141200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:6140200-6140400	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr8:6140800-6141000	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr8:6141200-6141400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:6141400-6144400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr8:6144400-6144600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:6144600-6147200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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