Variant report

Variant	nsv8261
Chromosome Location	chr8:1382971-1387036
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	chr8:1386309..1387811-chr8:1433835..1436467,2	K562	blood:

Extended variants
information (count: 326 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:326 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148913319	chr8:1382974-1382975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs563912461	chr8:1382976-1382977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs575723193	chr8:1382979-1382980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143548998	chr8:1382993-1382994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575192774	chr8:1382999-1383000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543390995	chr8:1383006-1383007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs371103940	chr8:1383020-1383021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541469887	chr8:1383030-1383031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs563377647	chr8:1383077-1383078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs532418315	chr8:1383086-1383087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs113610631	chr8:1383092-1383093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556909259	chr8:1383093-1383094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575185120	chr8:1383098-1383099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552610719	chr8:1383103-1383104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148041914	chr8:1383121-1383122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530663546	chr8:1383143-1383144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141633761	chr8:1383154-1383155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147066505	chr8:1383157-1383158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568764411	chr8:1383165-1383166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138267886	chr8:1383191-1383192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs143840364	chr8:1383205-1383206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs59734313	chr8:1383208-1383209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114786684	chr8:1383224-1383225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs377364774	chr8:1383225-1383226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190580185	chr8:1383228-1383229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs535637514	chr8:1383235-1383236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75770779	chr8:1383248-1383249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557531211	chr8:1383255-1383256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs180993151	chr8:1383258-1383259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539993994	chr8:1383271-1383272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73172544	chr8:1383279-1383280	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs114906703	chr8:1383291-1383292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573580322	chr8:1383293-1383294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545886584	chr8:1383317-1383318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544245895	chr8:1383355-1383356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150683043	chr8:1383370-1383371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184356540	chr8:1383392-1383393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549435250	chr8:1383421-1383422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs138940226	chr8:1383425-1383426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562300385	chr8:1383470-1383471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs117478922	chr8:1383489-1383490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149444050	chr8:1383494-1383495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375325346	chr8:1383518-1383519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571069112	chr8:1383525-1383526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532935959	chr8:1383535-1383536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545900352	chr8:1383537-1383538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557986443	chr8:1383566-1383567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546327942	chr8:1383578-1383579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144777134	chr8:1383614-1383615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148563479	chr8:1383620-1383621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Cancer	18840272	CNVD
Pilocytic astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	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
Cancer	20164919	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	20729466	CNVD
Ductal carcinoma	22052326	CNVD
small cell lung cancer	20016488	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
Breast cancer	21364760	CNVD
Esophageal adenocarcinoma	19417022	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
Autism	20531469	CNVD
Breast cancer	20932292	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:1381000-1386200	Weak transcription	Fetal Brain Female	brain
2	chr8:1381200-1385400	Weak transcription	Fetal Brain Male	brain
3	chr8:1383600-1384600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:1383600-1387200	Weak transcription	Pancreas	Pancrea
5	chr8:1383800-1384800	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr8:1384200-1384400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
7	chr8:1384400-1384600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr8:1384600-1385800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr8:1384600-1386200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:1384800-1385000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr8:1384800-1386200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr8:1385200-1385600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:1385200-1386200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr8:1385400-1389600	Enhancers	Fetal Brain Male	brain
15	chr8:1385600-1386600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr8:1385600-1387400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr8:1385800-1386200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr8:1385800-1386200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr8:1386000-1386600	Enhancers	Primary hematopoietic stem cells	blood
20	chr8:1386000-1387600	Enhancers	Primary T cells fromperipheralblood	blood
21	chr8:1386200-1386400	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr8:1386200-1386400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr8:1386200-1386400	Enhancers	Fetal Lung	lung
24	chr8:1386200-1386400	Enhancers	NH-A	brain
25	chr8:1386200-1386600	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr8:1386200-1386600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
27	chr8:1386200-1386600	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr8:1386200-1386600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr8:1386200-1386600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr8:1386200-1386800	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr8:1386200-1386800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr8:1386200-1386800	Enhancers	Brain Germinal Matrix	brain
33	chr8:1386200-1387000	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr8:1386200-1387000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr8:1386200-1387000	Enhancers	Fetal Brain Female	brain
36	chr8:1386200-1387000	Enhancers	Fetal Stomach	stomach
37	chr8:1386200-1387200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr8:1386200-1387600	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr8:1386200-1388000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr8:1386400-1386600	Flanking Active TSS	NH-A	brain
41	chr8:1386400-1386800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr8:1386400-1386800	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr8:1386400-1386800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr8:1386400-1387000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr8:1386400-1387000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr8:1386400-1387000	Enhancers	Brain Anterior Caudate	brain
47	chr8:1386400-1387000	Flanking Active TSS	Fetal Lung	lung
48	chr8:1386400-1387400	Active TSS	Brain Angular Gyrus	brain
49	chr8:1386400-1387400	Enhancers	K562	blood
50	chr8:1386400-1387600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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