Variant report

Variant	esv9417
Chromosome Location	chr8:6790630-6791378
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	chr8:6775337..6778035-chr8:6790742..6792474,2	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	rs577862870	chr8:6790636-6790637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564722326	chr8:6790646-6790647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138837394	chr8:6790647-6790648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140382491	chr8:6790655-6790656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191299923	chr8:6790668-6790669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs13251447	chr8:6790710-6790711	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs559852244	chr8:6790714-6790715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573386790	chr8:6790718-6790719	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541182357	chr8:6790735-6790736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564272440	chr8:6790745-6790746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533195593	chr8:6790762-6790763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557694713	chr8:6790774-6790775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2741682	chr8:6790809-6790810	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs2702862	chr8:6790812-6790813	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs375600781	chr8:6790830-6790831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs72494230	chr8:6790836-6790837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184263076	chr8:6790853-6790854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs111954836	chr8:6790860-6790861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs117010291	chr8:6790872-6790873	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs199922416	chr8:6790875-6790876	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565388978	chr8:6790915-6790916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534408985	chr8:6790957-6790958	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs59334047	chr8:6791023-6791024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs192887473	chr8:6791031-6791032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564110729	chr8:6791121-6791122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs57619115	chr8:6791122-6791123	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201902122	chr8:6791189-6791190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs199883045	chr8:6791190-6791191	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112811467	chr8:6791193-6791194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563757325	chr8:6791208-6791209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73521750	chr8:6791220-6791221	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs185321758	chr8:6791222-6791223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148063830	chr8:6791240-6791241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574292581	chr8:6791258-6791259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190218162	chr8:6791260-6791261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546021266	chr8:6791295-6791296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375233511	chr8:6791305-6791306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141719685	chr8:6791316-6791317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150562638	chr8:6791358-6791359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192498114	chr8:6791361-6791362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6785800-6798800	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr8:6789200-6791800	Weak transcription	Fetal Thymus	thymus
3	chr8:6789400-6791600	Weak transcription	Thymus	Thymus
4	chr8:6790600-6791400	Enhancers	Dnd41	blood

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