Variant report

Variant	esv3345761
Chromosome Location	chr8:3067145-3069443
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	chr8:3066725..3070066-chr8:3071271..3074010,3	K562	blood:

Extended variants
information (count: 156 )
Associated
traits (count: 124 )

Variant overlapped rSNPs/rCNVs (count:156 , 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	rs529633979	chr8:3067146-3067147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549683197	chr8:3067160-3067161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10097677	chr8:3067215-3067216	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs542912282	chr8:3067239-3067240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369589146	chr8:3067252-3067253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531987215	chr8:3067294-3067295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551956301	chr8:3067305-3067306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188997479	chr8:3067332-3067333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534265061	chr8:3067345-3067346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113511831	chr8:3067348-3067349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144950894	chr8:3067352-3067353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536235889	chr8:3067387-3067388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372454724	chr8:3067455-3067456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77741712	chr8:3067461-3067462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544808798	chr8:3067469-3067470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558291618	chr8:3067492-3067493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572065033	chr8:3067543-3067544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541094957	chr8:3067563-3067564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs111383039	chr8:3067567-3067568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs529731577	chr8:3067579-3067580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs114099402	chr8:3067590-3067591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs180892338	chr8:3067656-3067657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201000121	chr8:3067659-3067660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184519919	chr8:3067688-3067689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs118029793	chr8:3067692-3067693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571841200	chr8:3067697-3067698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189269290	chr8:3067708-3067709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10101045	chr8:3067724-3067725	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs567644509	chr8:3067735-3067736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536699500	chr8:3067772-3067773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556093034	chr8:3067778-3067779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs569625611	chr8:3067781-3067782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139403243	chr8:3067812-3067813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573014319	chr8:3067817-3067818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542123185	chr8:3067834-3067835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558354921	chr8:3067837-3067838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572235771	chr8:3067873-3067874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371595529	chr8:3067890-3067891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534506055	chr8:3067894-3067895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181975812	chr8:3067895-3067896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368803874	chr8:3067896-3067897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574400791	chr8:3067898-3067899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150045863	chr8:3067908-3067909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563239864	chr8:3067926-3067927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576830510	chr8:3067931-3067932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141200377	chr8:3067944-3067945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545744193	chr8:3067952-3067953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563206859	chr8:3067954-3067955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563242660	chr8:3067958-3067959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs532257513	chr8:3067959-3067960	Weak transcription	n/a	n/a	Overlapped CNVs	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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3060400-3076000	Weak transcription	Brain Angular Gyrus	brain
2	chr8:3062800-3072000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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