Variant report

Variant	nsv889932
Chromosome Location	chr8:3987036-4012279
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: 1715 )
Associated
traits (count: 128 )

Variant overlapped rSNPs/rCNVs (count:1715 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17427521	chr8:3987036-3987037	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs567218563	chr8:3987040-3987041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534488417	chr8:3987046-3987047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147357782	chr8:3987052-3987053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs3849822	chr8:3987053-3987054	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs186704226	chr8:3987062-3987063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556652139	chr8:3987065-3987066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190741807	chr8:3987080-3987081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574568745	chr8:3987101-3987102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs3061460	chr8:3987106-3987107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34723681	chr8:3987110-3987111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs71947312	chr8:3987117-3987118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs397726425	chr8:3987121-3987122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181074566	chr8:3987129-3987130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543400293	chr8:3987171-3987172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs3849823	chr8:3987176-3987177	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs185325550	chr8:3987191-3987192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532430282	chr8:3987196-3987197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs563866255	chr8:3987236-3987237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139074407	chr8:3987247-3987248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4875288	chr8:3987251-3987252	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs376090513	chr8:3987254-3987255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190874084	chr8:3987274-3987275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543851442	chr8:3987276-3987277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149900586	chr8:3987277-3987278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs78520588	chr8:3987281-3987282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75543275	chr8:3987286-3987287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560629693	chr8:3987290-3987291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528193614	chr8:3987320-3987321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs552800350	chr8:3987339-3987340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143967442	chr8:3987340-3987341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62503602	chr8:3987348-3987349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs538266207	chr8:3987366-3987367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528611291	chr8:3987385-3987386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549901466	chr8:3987400-3987401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531439640	chr8:3987408-3987409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183448859	chr8:3987415-3987416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187425606	chr8:3987419-3987420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192000612	chr8:3987427-3987428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572675293	chr8:3987435-3987436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182934401	chr8:3987436-3987437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10096713	chr8:3987445-3987446	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs542379811	chr8:3987468-3987469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62503603	chr8:3987473-3987474	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs148559176	chr8:3987510-3987511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1714785	chr8:3987541-3987542	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs574596045	chr8:3987555-3987556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs188437424	chr8:3987583-3987584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192317269	chr8:3987599-3987600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527922583	chr8:3987605-3987606	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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