Variant report

Variant	esv3401908
Chromosome Location	chr8:4528344-4532542
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	chr8:4524296..4526779-chr8:4531992..4534283,2	K562	blood:

Extended variants
information (count: 373 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:373 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190292505	chr8:4528369-4528370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539948318	chr8:4528373-4528374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538736515	chr8:4528380-4528381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182510357	chr8:4528435-4528436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75089774	chr8:4528444-4528445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368078550	chr8:4528448-4528449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150842169	chr8:4528468-4528469	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561147615	chr8:4528491-4528492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139319358	chr8:4528551-4528552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540935107	chr8:4528564-4528565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368810432	chr8:4528573-4528574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373061710	chr8:4528578-4528579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149925954	chr8:4528620-4528621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs116139002	chr8:4528625-4528626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562530825	chr8:4528629-4528630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188056489	chr8:4528636-4528637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548379259	chr8:4528638-4528639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192285306	chr8:4528663-4528664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs144076943	chr8:4528671-4528672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs376305274	chr8:4528672-4528673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535477563	chr8:4528699-4528700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs76765603	chr8:4528700-4528701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs139968194	chr8:4528712-4528713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184159455	chr8:4528737-4528738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374244790	chr8:4528741-4528742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs538688542	chr8:4528751-4528752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556944137	chr8:4528769-4528770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs568961804	chr8:4528778-4528779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536368996	chr8:4528780-4528781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs143530694	chr8:4528782-4528783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188861971	chr8:4528787-4528788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs540545685	chr8:4528821-4528822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368644566	chr8:4528822-4528823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs559246211	chr8:4528851-4528852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs576752639	chr8:4528856-4528857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544182330	chr8:4528857-4528858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565313647	chr8:4528861-4528862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs193219172	chr8:4528868-4528869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555748862	chr8:4528881-4528882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541983030	chr8:4528897-4528898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184369587	chr8:4528906-4528907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs527527960	chr8:4528920-4528921	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs538503634	chr8:4528956-4528957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs552179496	chr8:4528988-4528989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs146756517	chr8:4528989-4528990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs531503810	chr8:4529028-4529029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs550532337	chr8:4529047-4529048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs140210914	chr8:4529056-4529057	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536328295	chr8:4529104-4529105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs142517365	chr8:4529106-4529107	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:125)

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
Ductal carcinoma	22052326	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
Breast cancer	21364760	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
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chronic myeloid leukemia	21384125	CNVD
Tetralogy of Fallot	22912587	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4523200-4528400	Weak transcription	Fetal Heart	heart
2	chr8:4527800-4529400	Enhancers	Brain Germinal Matrix	brain
3	chr8:4528200-4529000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:4528400-4529600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr8:4528400-4529800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr8:4528400-4530000	Enhancers	Fetal Heart	heart
7	chr8:4528600-4528800	Enhancers	Fetal Brain Male	brain
8	chr8:4528600-4529200	Enhancers	Brain Cingulate Gyrus	brain
9	chr8:4529800-4532200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr8:4530000-4533200	Weak transcription	Fetal Heart	heart
11	chr8:4530200-4530600	Active TSS	Fetal Lung	lung
12	chr8:4530200-4530600	ZNF genes & repeats	Pancreas	Pancrea
13	chr8:4530400-4530600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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