Variant report

Variant	esv3406533
Chromosome Location	chr8:3241345-3243893
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	chr8:3239734..3241510-chr8:3243012..3245362,2	K562	blood:
2	chr8:3239734..3241510-chr8:3243012..3245362,2	K562	blood:

Extended variants
information (count: 198 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:198 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75569887	chr8:3241345-3241346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs575314314	chr8:3241346-3241347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555727631	chr8:3241351-3241352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182266609	chr8:3241376-3241377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143478687	chr8:3241381-3241382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10111233	chr8:3241395-3241396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143874666	chr8:3241413-3241414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371789821	chr8:3241423-3241424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564173594	chr8:3241433-3241434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148610830	chr8:3241444-3241445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550134167	chr8:3241469-3241470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7819225	chr8:3241474-3241475	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs529275528	chr8:3241476-3241477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs59412075	chr8:3241488-3241489	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs371965706	chr8:3241497-3241498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185502277	chr8:3241518-3241519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142240242	chr8:3241521-3241522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375062607	chr8:3241531-3241532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs112728799	chr8:3241543-3241544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150793209	chr8:3241573-3241574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555614894	chr8:3241580-3241581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574012010	chr8:3241585-3241586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76222384	chr8:3241595-3241596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531421524	chr8:3241611-3241612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553493984	chr8:3241617-3241618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs192199284	chr8:3241622-3241623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545620724	chr8:3241625-3241626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184042283	chr8:3241637-3241638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576332294	chr8:3241641-3241642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34215341	chr8:3241650-3241651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2649638	chr8:3241665-3241666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551947115	chr8:3241673-3241674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561928855	chr8:3241674-3241675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs551155472	chr8:3241683-3241684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529181053	chr8:3241687-3241688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368219526	chr8:3241692-3241693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547720572	chr8:3241733-3241734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576039383	chr8:3241734-3241735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73173168	chr8:3241735-3241736	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs73173169	chr8:3241747-3241748	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs7819673	chr8:3241798-3241799	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs530976586	chr8:3241806-3241807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371550996	chr8:3241823-3241824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544710588	chr8:3241824-3241825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549177276	chr8:3241831-3241832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139332114	chr8:3241845-3241846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7819794	chr8:3241879-3241880	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs556113838	chr8:3241912-3241913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553719253	chr8:3241948-3241949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7819929	chr8:3241969-3241970	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:124)

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
Cancer	20164919	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
Ovarian cancer	22355333	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
Schizophrenia	19805367	CNVD
Colorectal cancer	16774939	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	22014273	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3239600-3253600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr8:3243200-3244400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr8:3243400-3244200	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr8:3243400-3244200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr8:3243400-3244200	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr8:3243400-3244400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr8:3243400-3244600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr8:3243400-3256400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr8:3243600-3244000	Enhancers	H9 Cell Line	embryonic stem cell
10	chr8:3243800-3244000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:3243800-3244200	Enhancers	H1 Cell Line	embryonic stem cell

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