Variant report

Variant	esv2761230
Chromosome Location	chr8:3985838-4011843
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	chr8:4010079..4014350-chr8:4015920..4018884,3	K562	blood:
2	chr8:4010079..4014350-chr8:4015920..4019883,4	K562	blood:

Extended variants
information (count: 1843 )
Associated
traits (count: 128 )

Variant overlapped rSNPs/rCNVs (count:1843 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10091079	chr8:3985838-3985839	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs71854171	chr8:3985851-3985852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570178709	chr8:3985858-3985859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1647341	chr8:3985859-3985860	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs552654150	chr8:3985864-3985865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568114082	chr8:3985865-3985866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535767812	chr8:3985871-3985872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77465273	chr8:3985873-3985874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565961994	chr8:3985881-3985882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs17069064	chr8:3985885-3985886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557468160	chr8:3985896-3985897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372858472	chr8:3985911-3985912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs1647342	chr8:3985919-3985920	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs1035640	chr8:3985929-3985930	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs555931718	chr8:3985940-3985941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs3902136	chr8:3985943-3985944	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs541341600	chr8:3985949-3985950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568762796	chr8:3985955-3985956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368546891	chr8:3985975-3985976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184978286	chr8:3985985-3985986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187535832	chr8:3985998-3985999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144240819	chr8:3986006-3986007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192788929	chr8:3986008-3986009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549177994	chr8:3986013-3986014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs1035642	chr8:3986016-3986017	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs3902137	chr8:3986027-3986028	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs547589789	chr8:3986029-3986030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566028155	chr8:3986058-3986059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147367245	chr8:3986087-3986088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs367716550	chr8:3986102-3986103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs118074924	chr8:3986105-3986106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184683101	chr8:3986118-3986119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577321008	chr8:3986130-3986131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550532214	chr8:3986137-3986138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189133420	chr8:3986141-3986142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573386456	chr8:3986147-3986148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545984176	chr8:3986148-3986149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs541255441	chr8:3986152-3986153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371919989	chr8:3986157-3986158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs3902138	chr8:3986167-3986168	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs368083496	chr8:3986172-3986173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371472145	chr8:3986180-3986181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10106949	chr8:3986202-3986203	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs4418361	chr8:3986216-3986217	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs114011557	chr8:3986222-3986223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114959482	chr8:3986238-3986239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs199986469	chr8:3986243-3986244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4392919	chr8:3986246-3986247	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs552335310	chr8:3986262-3986263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528590308	chr8:3986278-3986279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:128)

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
Pancreatic ductal adenocarcinoma	19077451	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
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:3981800-3993800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr8:3993800-3994800	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr8:3993800-3994800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr8:3994000-3994600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr8:3994000-3994800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:3994000-3994800	Enhancers	Brain Germinal Matrix	brain
7	chr8:3994800-3999800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr8:3997000-3997200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr8:3999800-4000000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr8:4000000-4001200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr8:4001200-4001800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr8:4001400-4001600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:4001400-4001800	Enhancers	Fetal Lung	lung
14	chr8:4010800-4011000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr8:4010800-4011400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr8:4010800-4011400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:4010800-4011400	Enhancers	Fetal Muscle Leg	muscle
18	chr8:4011000-4011400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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