Variant report

Variant	esv3372068
Chromosome Location	chr8:5932644-5936942
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:5933019..5935981-chr8:5937353..5939270,2	K562	blood:
2	chr8:5797855..5798416-chr8:5934095..5934883,2	MCF-7	breast:
3	chr8:5933019..5936001-chr8:5936013..5938853,2	K562	blood:
4	chr8:5933019..5936001-chr8:5936013..5938853,2	K562	blood:

Extended variants
information (count: 297 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:297 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183265443	chr8:5932647-5932648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113986324	chr8:5932688-5932689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs185961282	chr8:5932701-5932702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115837254	chr8:5932736-5932737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554517485	chr8:5932776-5932777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568085032	chr8:5932785-5932786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150158666	chr8:5932788-5932789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553913903	chr8:5932790-5932791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs190832829	chr8:5932890-5932891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183199324	chr8:5932974-5932975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556112909	chr8:5932980-5932981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569209658	chr8:5932988-5932989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138647438	chr8:5932993-5932994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs541772723	chr8:5933023-5933024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188085835	chr8:5933026-5933027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs28404430	chr8:5933038-5933039	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs573618039	chr8:5933047-5933048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541083478	chr8:5933052-5933053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564240118	chr8:5933057-5933058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533295909	chr8:5933080-5933081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557881274	chr8:5933087-5933088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550335345	chr8:5933098-5933099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs577940327	chr8:5933109-5933110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114177040	chr8:5933121-5933122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529563770	chr8:5933123-5933124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192139114	chr8:5933143-5933144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568020280	chr8:5933144-5933145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533761782	chr8:5933177-5933178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77244546	chr8:5933197-5933198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs17075950	chr8:5933204-5933205	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs539191528	chr8:5933209-5933210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145447054	chr8:5933235-5933236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs28580744	chr8:5933247-5933248	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs542058236	chr8:5933250-5933251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555249526	chr8:5933277-5933278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542044268	chr8:5933278-5933279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544740447	chr8:5933279-5933280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs561819120	chr8:5933282-5933283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572045762	chr8:5933296-5933297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541008047	chr8:5933299-5933300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs28651323	chr8:5933323-5933324	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs183173938	chr8:5933327-5933328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs17075951	chr8:5933354-5933355	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs563859517	chr8:5933380-5933381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563950429	chr8:5933389-5933390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111550714	chr8:5933391-5933392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114360742	chr8:5933397-5933398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs532921998	chr8:5933412-5933413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560084634	chr8:5933439-5933440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568875847	chr8:5933456-5933457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:122)

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
Tetralogy of Fallot	22912587	CNVD
Type 2 diabetes	21526130	CNVD
Medulloblastoma	16783165	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Melanoma	20688739	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:5930800-5934200	Weak transcription	Fetal Heart	heart
2	chr8:5932600-5935800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr8:5934000-5934200	Active TSS	Brain Hippocampus Middle	brain
4	chr8:5934200-5934400	Flanking Active TSS	Brain Hippocampus Middle	brain
5	chr8:5934200-5934600	Enhancers	Brain Anterior Caudate	brain
6	chr8:5934200-5934800	Enhancers	Fetal Heart	heart
7	chr8:5934400-5934600	Enhancers	Adipose Nuclei	Adipose
8	chr8:5934400-5934800	Enhancers	Fetal Brain Male	brain
9	chr8:5935800-5936800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:5936200-5936600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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