Variant report

Variant	nsv1015912
Chromosome Location	chr8:4005116-4031820
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:4010079..4014350-chr8:4015920..4019883,4	K562	blood:
2	chr8:4010079..4014350-chr8:4015920..4018884,3	K562	blood:
3	chr8:4010079..4014350-chr8:4015920..4018884,3	K562	blood:
4	chr8:4010079..4014350-chr8:4015920..4019883,4	K562	blood:

Extended variants
information (count: 361 )
Associated
traits (count: 127 )

Variant overlapped rSNPs/rCNVs (count:361 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576257399	chr8:4010822-4010823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs537057365	chr8:4010826-4010827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535599842	chr8:4010827-4010828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs12114710	chr8:4010840-4010841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs569761402	chr8:4010859-4010860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573781775	chr8:4010889-4010890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs555201010	chr8:4010892-4010893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs192422745	chr8:4010902-4010903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559932861	chr8:4010919-4010920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs578095824	chr8:4010924-4010925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs78527091	chr8:4010930-4010931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73658586	chr8:4010947-4010948	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs575262741	chr8:4010960-4010961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376589723	chr8:4010963-4010964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183287325	chr8:4010973-4010974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143930425	chr8:4010984-4010985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528602488	chr8:4010987-4010988	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546761351	chr8:4010990-4010991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565895469	chr8:4010991-4010992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539277631	chr8:4011015-4011016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551517547	chr8:4011029-4011030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs186167471	chr8:4011059-4011060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs190488045	chr8:4011062-4011063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114149913	chr8:4011064-4011065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573666333	chr8:4011079-4011080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs111414232	chr8:4011082-4011083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146783042	chr8:4011105-4011106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs140553443	chr8:4011129-4011130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577635459	chr8:4011139-4011140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs545282440	chr8:4011158-4011159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs17404997	chr8:4011171-4011172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577213225	chr8:4011187-4011188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs542905349	chr8:4011192-4011193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560980327	chr8:4011195-4011196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528445792	chr8:4011219-4011220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs73178396	chr8:4011220-4011221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182691648	chr8:4011229-4011230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188451983	chr8:4011240-4011241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551286336	chr8:4011245-4011246	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs145248888	chr8:4011259-4011260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149074987	chr8:4011271-4011272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549279054	chr8:4011282-4011283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs76443940	chr8:4011306-4011307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs534340065	chr8:4011307-4011308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534921468	chr8:4011309-4011310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143139286	chr8:4011324-4011325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs373923739	chr8:4011330-4011331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs571257674	chr8:4011358-4011359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs538724871	chr8:4011362-4011363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557173134	chr8:4011365-4011366	Enhancers	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
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
Ependymoma	20639864	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:4010800-4011000	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr8:4010800-4011400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:4010800-4011400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:4010800-4011400	Enhancers	Fetal Muscle Leg	muscle
5	chr8:4011000-4011400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:4012800-4013400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr8:4012800-4013600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr8:4024400-4025000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr8:4024400-4025000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr8:4024600-4025000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr8:4026400-4027200	Enhancers	HepG2	liver
12	chr8:4028400-4028600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr8:4028400-4028600	Enhancers	Pancreas	Pancrea
14	chr8:4031400-4031600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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