Variant report

Variant	esv3520950
Chromosome Location	chr8:6740199-6740621
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	chr8:6739980..6742198-chr8:6744981..6748845,3	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 135 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192180227	chr8:6740203-6740204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552371583	chr8:6740211-6740212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576487319	chr8:6740214-6740215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537848704	chr8:6740238-6740239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73517761	chr8:6740245-6740246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560638501	chr8:6740259-6740260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568422163	chr8:6740269-6740270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534174759	chr8:6740296-6740297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529785660	chr8:6740310-6740311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs36051487	chr8:6740311-6740312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs111655802	chr8:6740324-6740325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113819344	chr8:6740352-6740353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553968016	chr8:6740357-6740358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs56074110	chr8:6740365-6740366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs202100796	chr8:6740367-6740368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs376869683	chr8:6740368-6740369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111071390	chr8:6740377-6740378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs200342296	chr8:6740380-6740381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs113632220	chr8:6740395-6740396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs545123408	chr8:6740401-6740402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs9692818	chr8:6740408-6740409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs9694351	chr8:6740409-6740410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs9694106	chr8:6740423-6740424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558349015	chr8:6740429-6740430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs9694107	chr8:6740436-6740437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs80310554	chr8:6740464-6740465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs575250026	chr8:6740471-6740472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs9694118	chr8:6740492-6740493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs79166354	chr8:6740507-6740508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188871871	chr8:6740509-6740510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs569592920	chr8:6740539-6740540	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113787246	chr8:6740545-6740546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs182000449	chr8:6740549-6740550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs185663559	chr8:6740560-6740561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs2978859	chr8:6740595-6740596	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs540496878	chr8:6740597-6740598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372711603	chr8:6740605-6740606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560421384	chr8:6740607-6740608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs2978858	chr8:6740616-6740617	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs73188256	chr8:6740618-6740619	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:135)

Disease	PMID	Source
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
Prostate cancer	16573809	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
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	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
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Bladder cancer	21909424	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cognitive impairment	21505072	CNVD
Breast cancer	17142309	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6736000-6741800	Weak transcription	Esophagus	oesophagus
2	chr8:6736000-6744800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:6739600-6741200	Enhancers	Dnd41	blood
4	chr8:6739600-6741800	Weak transcription	Pancreas	Pancrea
5	chr8:6740000-6741600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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