Variant report

Variant	nsv526001
Chromosome Location	chr8:9164726-9167865
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	chr8:9161635..9164243-chr8:9166726..9169723,2	K562	blood:

Extended variants
information (count: 237 )
Associated
traits (count: 135 )

Variant overlapped rSNPs/rCNVs (count:237 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs330061	chr8:9164726-9164727	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs113236543	chr8:9164753-9164754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs386722052	chr8:9164754-9164755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs56246976	chr8:9164755-9164756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs3101433	chr8:9164761-9164762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs3101432	chr8:9164772-9164773	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs554273623	chr8:9164778-9164779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569811000	chr8:9164810-9164811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535431468	chr8:9164828-9164829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs555100836	chr8:9164846-9164847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs3101431	chr8:9164856-9164857	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs144243572	chr8:9164858-9164859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs372221841	chr8:9164885-9164886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557903528	chr8:9164907-9164908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182749338	chr8:9164918-9164919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148766758	chr8:9164956-9164957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563454544	chr8:9164965-9164966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545846632	chr8:9164977-9164978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs146553268	chr8:9164990-9164991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576170565	chr8:9165011-9165012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541806334	chr8:9165026-9165027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141202873	chr8:9165028-9165029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs527951200	chr8:9165033-9165034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs143200523	chr8:9165034-9165035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs377342962	chr8:9165052-9165053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs189013538	chr8:9165058-9165059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs151221577	chr8:9165078-9165079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs550434488	chr8:9165096-9165097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs140341545	chr8:9165105-9165106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535570400	chr8:9165106-9165107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190922970	chr8:9165117-9165118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs548938480	chr8:9165139-9165140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs150352970	chr8:9165179-9165180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182721452	chr8:9165192-9165193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs138068743	chr8:9165263-9165264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577562810	chr8:9165273-9165274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187449531	chr8:9165291-9165292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs79559990	chr8:9165314-9165315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541973064	chr8:9165325-9165326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs117221194	chr8:9165357-9165358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs34118262	chr8:9165360-9165361	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs405001	chr8:9165380-9165381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
43	rs370971899	chr8:9165394-9165395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs143549965	chr8:9165398-9165399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs564367853	chr8:9165399-9165400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs145837697	chr8:9165404-9165405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs79881288	chr8:9165405-9165406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs563896499	chr8:9165416-9165417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs17715417	chr8:9165444-9165445	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs548816673	chr8:9165457-9165458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:135)

Disease	PMID	Source
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
Prostate cancer	16573809	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
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	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
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Bladder cancer	21909424	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9153200-9174600	Weak transcription	Right Atrium	heart
2	chr8:9161000-9168600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:9161200-9171200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr8:9162200-9165600	Weak transcription	Pancreas	Pancrea
5	chr8:9162400-9168000	Weak transcription	Left Ventricle	heart
6	chr8:9162600-9168000	Weak transcription	Fetal Heart	heart
7	chr8:9163000-9167800	Weak transcription	Fetal Intestine Large	intestine
8	chr8:9164400-9166200	Enhancers	Liver	Liver
9	chr8:9164600-9169800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:9164800-9165600	Enhancers	Psoas Muscle	Psoas
11	chr8:9164800-9169800	Weak transcription	NHEK	skin
12	chr8:9165600-9165800	Enhancers	Pancreas	Pancrea
13	chr8:9165600-9174200	Weak transcription	Psoas Muscle	Psoas
14	chr8:9166200-9167600	Weak transcription	Liver	Liver
15	chr8:9167600-9169000	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr8:9167600-9175000	Enhancers	Liver	Liver
17	chr8:9167800-9168400	Enhancers	Fetal Intestine Large	intestine
18	chr8:9167800-9170200	Enhancers	Skeletal Muscle Male	skeletal muscle

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