Variant report

Variant	nsv539396
Chromosome Location	chr8:4510821-4611710
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr21:30519178..30519958-chr8:4582339..4582839,2	MCF-7	breast:
2	chr8:4524296..4526779-chr8:4531992..4534283,2	K562	blood:
3	chr2:220553002..220553652-chr8:4562250..4563228,2	HCT-116	colon:
4	chr8:4524296..4526779-chr8:4531992..4534283,2	K562	blood:

Extended variants
information (count: 5620 )
Associated
traits (count: 127 )

Variant overlapped rSNPs/rCNVs (count:5620 , 50 per page) page: 1 2 3 4 5 6 7 ... 113

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371041725	chr8:4510864-4510865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546060883	chr8:4510885-4510886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572521272	chr8:4510902-4510903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12114376	chr8:4510932-4510933	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs149711455	chr8:4510951-4510952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114136466	chr8:4510980-4510981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530143987	chr8:4510983-4510984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs562707560	chr8:4511020-4511021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2617032	chr8:4511041-4511042	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs548348973	chr8:4511071-4511072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563557766	chr8:4511095-4511096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566636252	chr8:4511096-4511097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544117755	chr8:4511105-4511106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527867850	chr8:4511120-4511121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552398511	chr8:4511122-4511123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532353478	chr8:4511123-4511124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368277212	chr8:4511132-4511133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183852210	chr8:4511148-4511149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146734571	chr8:4511159-4511160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368660445	chr8:4511177-4511178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564401772	chr8:4511204-4511205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372500404	chr8:4511218-4511219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556830080	chr8:4511221-4511222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs567934950	chr8:4511229-4511230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372251087	chr8:4511233-4511234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs564062476	chr8:4511243-4511244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535434515	chr8:4511258-4511259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552488869	chr8:4511268-4511269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572218611	chr8:4511302-4511303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187460795	chr8:4511318-4511319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558019124	chr8:4511327-4511328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs193255333	chr8:4511336-4511337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543325365	chr8:4511364-4511365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533212827	chr8:4511395-4511396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113218425	chr8:4511406-4511407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs540540000	chr8:4511413-4511414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs147034448	chr8:4511434-4511435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs139392133	chr8:4511448-4511449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs12543670	chr8:4511452-4511453	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs542253002	chr8:4511462-4511463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs528709072	chr8:4511483-4511484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185540514	chr8:4511515-4511516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528527086	chr8:4511526-4511527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs76580586	chr8:4511541-4511542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs371192547	chr8:4511558-4511559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548500963	chr8:4511562-4511563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190391842	chr8:4511579-4511580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs13265173	chr8:4511604-4511605	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs550159629	chr8:4511605-4511606	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs372842018	chr8:4511607-4511608	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:127)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4510600-4514400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr8:4511400-4511600	Enhancers	Adipose Nuclei	Adipose
3	chr8:4511600-4512000	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr8:4512000-4512200	Enhancers	Adipose Nuclei	Adipose
5	chr8:4514400-4514800	Enhancers	H1 Cell Line	embryonic stem cell
6	chr8:4514600-4515000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:4514600-4515000	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr8:4514800-4515000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:4514800-4515400	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr8:4515000-4518400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:4515200-4517000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:4517000-4517200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:4517200-4518600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:4518400-4518600	Enhancers	Fetal Brain Male	brain
15	chr8:4518400-4521200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr8:4518600-4521200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:4518800-4519200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:4518800-4520000	Weak transcription	Fetal Brain Male	brain
19	chr8:4518800-4520200	Enhancers	Cortex derived primary cultured neurospheres	brain
20	chr8:4519000-4520000	Enhancers	Brain Germinal Matrix	brain
21	chr8:4519200-4520200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr8:4519400-4519800	Enhancers	Brain Angular Gyrus	brain
23	chr8:4519400-4520000	Enhancers	Brain Cingulate Gyrus	brain
24	chr8:4519600-4519800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:4519600-4519800	Enhancers	Fetal Brain Female	brain
26	chr8:4519800-4520200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr8:4519800-4520200	Active TSS	Brain Angular Gyrus	brain
28	chr8:4519800-4520200	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr8:4519800-4520400	Flanking Active TSS	Fetal Brain Female	brain
30	chr8:4519800-4520600	Active TSS	Brain Substantia Nigra	brain
31	chr8:4520000-4520200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr8:4520000-4520200	Active TSS	Brain Cingulate Gyrus	brain
33	chr8:4520000-4520200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr8:4520000-4520200	Active TSS	NH-A	brain
35	chr8:4520000-4520400	Flanking Active TSS	Brain Germinal Matrix	brain
36	chr8:4520000-4520400	Active TSS	Brain Hippocampus Middle	brain
37	chr8:4520000-4520400	Enhancers	Fetal Brain Male	brain
38	chr8:4520000-4520600	Active TSS	Brain Anterior Caudate	brain
39	chr8:4520200-4520400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr8:4520200-4520400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr8:4520200-4520400	Flanking Active TSS	Brain Cingulate Gyrus	brain
42	chr8:4520200-4520400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr8:4520200-4520400	Flanking Active TSS	NH-A	brain
44	chr8:4520200-4520600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr8:4520200-4520600	Flanking Active TSS	Brain Angular Gyrus	brain
46	chr8:4520200-4520600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
47	chr8:4520200-4520800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr8:4520200-4521400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr8:4520400-4520800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr8:4520400-4520800	Flanking Active TSS	Brain Hippocampus Middle	brain

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