Variant report

Variant	esv1963442
Chromosome Location	chr8:6756563-6756934
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	chr8:6754502..6756661-chr8:6759647..6761646,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 135 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368932923	chr8:6756574-6756575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs557302353	chr8:6756575-6756576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs13275881	chr8:6756577-6756578	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs13272703	chr8:6756582-6756583	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs552872249	chr8:6756592-6756593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573323924	chr8:6756594-6756595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs147991941	chr8:6756613-6756614	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs183888318	chr8:6756616-6756617	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs575549569	chr8:6756631-6756632	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs188256764	chr8:6756632-6756633	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs141573829	chr8:6756647-6756648	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs530299867	chr8:6756648-6756649	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs546816985	chr8:6756677-6756678	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs560504402	chr8:6756681-6756682	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs528229800	chr8:6756697-6756698	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs551184116	chr8:6756700-6756701	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs13255674	chr8:6756714-6756715	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs386721889	chr8:6756715-6756716	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs537059639	chr8:6756716-6756717	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs77091471	chr8:6756718-6756719	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs563209444	chr8:6756719-6756720	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs550568166	chr8:6756728-6756729	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs192801776	chr8:6756739-6756740	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs184705671	chr8:6756741-6756742	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs376106573	chr8:6756744-6756745	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs9694942	chr8:6756755-6756756	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs9693851	chr8:6756757-6756758	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs145508976	chr8:6756758-6756759	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs9693852	chr8:6756763-6756764	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs13255719	chr8:6756770-6756771	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs181661395	chr8:6756780-6756781	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs184781006	chr8:6756791-6756792	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs144803637	chr8:6756797-6756798	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs375060684	chr8:6756800-6756801	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs2741057	chr8:6756802-6756803	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs575297258	chr8:6756805-6756806	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs113625684	chr8:6756806-6756807	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs999061	chr8:6756807-6756808	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs386721890	chr8:6756810-6756811	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs2741059	chr8:6756812-6756813	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs540515683	chr8:6756831-6756832	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs376029558	chr8:6756833-6756834	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs532606977	chr8:6756839-6756840	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs189439750	chr8:6756849-6756850	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs564853192	chr8:6756863-6756864	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs7820009	chr8:6756864-6756865	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs550632040	chr8:6756877-6756878	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs368769837	chr8:6756896-6756897	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs567263557	chr8:6756930-6756931	Weak transcription Active TSS	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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:6753000-6757400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:6753200-6760000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:6753200-6760000	Weak transcription	Esophagus	oesophagus
4	chr8:6753400-6757800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr8:6753400-6757800	Weak transcription	HMEC	breast
6	chr8:6753400-6758000	Weak transcription	NHEK	skin
7	chr8:6753600-6758000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:6754200-6757200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr8:6755200-6756600	Enhancers	Pancreas	Pancrea
10	chr8:6756400-6756600	Enhancers	K562	blood
11	chr8:6756600-6757400	Weak transcription	Pancreas	Pancrea
12	chr8:6756600-6757400	Active TSS	K562	blood

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