Variant report

Variant	nsv465384
Chromosome Location	chr8:4413282-4512135
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:4501243..4502892-chr8:4505644..4507988,2	K562	blood:
2	chr8:4501243..4502892-chr8:4505644..4507988,2	K562	blood:
3	chr3:145223411..145224951-chr8:4505239..4506739,2	K562	blood:

Extended variants
information (count: 3968 )
Associated
traits (count: 125 )

Variant overlapped rSNPs/rCNVs (count:3968 , 50 per page) page: 1 2 3 4 5 6 7 ... 80

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140502248	chr8:4415028-4415029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs566518206	chr8:4415034-4415035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs190359478	chr8:4415039-4415040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150337045	chr8:4415043-4415044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs192341794	chr8:4415070-4415071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs9657399	chr8:4415071-4415072	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs576428487	chr8:4415097-4415098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141132513	chr8:4415107-4415108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371925282	chr8:4415116-4415117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184365719	chr8:4415149-4415150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375206358	chr8:4415181-4415182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565330081	chr8:4415217-4415218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73661532	chr8:4415236-4415237	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs542137567	chr8:4415239-4415240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs562706842	chr8:4415247-4415248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73498652	chr8:4415256-4415257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146041398	chr8:4415274-4415275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567061105	chr8:4415278-4415279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs1526331	chr8:4415280-4415281	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs181157125	chr8:4415283-4415284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs11278737	chr8:4415289-4415290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs372229422	chr8:4415290-4415291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs377119522	chr8:4415294-4415295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369472469	chr8:4415295-4415296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs138518271	chr8:4415304-4415305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs141583198	chr8:4415305-4415306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568216458	chr8:4415320-4415321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535657835	chr8:4415361-4415362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553975680	chr8:4415368-4415369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572250489	chr8:4415397-4415398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185605748	chr8:4415403-4415404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs558662267	chr8:4415409-4415410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146211186	chr8:4415414-4415415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs544270425	chr8:4415423-4415424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562643703	chr8:4415433-4415434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148418938	chr8:4415458-4415459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542047006	chr8:4415530-4415531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563558943	chr8:4415539-4415540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560783854	chr8:4415561-4415562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370562898	chr8:4415574-4415575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs578130741	chr8:4415579-4415580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373697914	chr8:4415584-4415585	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554231787	chr8:4415587-4415588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573759413	chr8:4415602-4415603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542612969	chr8:4415638-4415639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146674021	chr8:4415658-4415659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527956199	chr8:4415659-4415660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369589705	chr8:4415662-4415663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs734	chr8:4415666-4415667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189582827	chr8:4415702-4415703	Enhancers Weak transcription	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:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4415000-4416200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr8:4415200-4415400	Enhancers	HUVEC	blood vessel
3	chr8:4415400-4416000	Weak transcription	HUVEC	blood vessel
4	chr8:4416000-4416200	Enhancers	HUVEC	blood vessel
5	chr8:4416200-4417400	Weak transcription	HUVEC	blood vessel
6	chr8:4416400-4418200	Enhancers	Fetal Stomach	stomach
7	chr8:4417200-4418400	Enhancers	Dnd41	blood
8	chr8:4417400-4418200	Enhancers	HUVEC	blood vessel
9	chr8:4418000-4418200	Enhancers	Brain Angular Gyrus	brain
10	chr8:4418200-4420600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr8:4424800-4425200	Enhancers	Brain Hippocampus Middle	brain
12	chr8:4424800-4425200	Enhancers	Brain Substantia Nigra	brain
13	chr8:4431200-4432000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
14	chr8:4437400-4438000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr8:4437600-4438000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr8:4439200-4440200	Enhancers	Fetal Heart	heart
17	chr8:4440200-4440800	Enhancers	Right Ventricle	heart
18	chr8:4440200-4444000	Weak transcription	Fetal Heart	heart
19	chr8:4444000-4444800	Enhancers	Fetal Heart	heart
20	chr8:4462200-4462400	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr8:4464000-4464400	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr8:4468200-4471000	Enhancers	Fetal Heart	heart
23	chr8:4469200-4469800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr8:4470800-4471000	Enhancers	Pancreas	Pancrea
25	chr8:4470800-4471200	Enhancers	Fetal Muscle Leg	muscle
26	chr8:4479800-4480000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:4479800-4480000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:4479800-4480000	Enhancers	Fetal Muscle Leg	muscle
29	chr8:4479800-4480200	Active TSS	Brain Angular Gyrus	brain
30	chr8:4479800-4480200	Active TSS	Brain Cingulate Gyrus	brain
31	chr8:4479800-4480200	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr8:4479800-4480200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr8:4479800-4480200	Active TSS	Brain Substantia Nigra	brain
34	chr8:4479800-4480400	Active TSS	Brain Hippocampus Middle	brain
35	chr8:4480000-4481800	Weak transcription	Fetal Muscle Leg	muscle
36	chr8:4480000-4494400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr8:4481400-4494400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr8:4481800-4484200	Enhancers	Fetal Muscle Leg	muscle
39	chr8:4483600-4484200	Enhancers	Fetal Heart	heart
40	chr8:4483800-4484200	Enhancers	Fetal Muscle Trunk	muscle
41	chr8:4483800-4484400	Enhancers	Fetal Lung	lung
42	chr8:4485200-4485400	ZNF genes & repeats	Left Ventricle	heart
43	chr8:4488200-4488600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr8:4492200-4492600	Enhancers	Fetal Kidney	kidney
45	chr8:4494400-4494800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr8:4494400-4495000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
47	chr8:4494800-4497600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr8:4495000-4497200	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr8:4496000-4496400	Enhancers	H1 Cell Line	embryonic stem cell
50	chr8:4496000-4496400	Enhancers	HUES48 Cell Line	embryonic stem cell

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