Variant report

Variant	nsv397048
Chromosome Location	chr8:8984879-8986276
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	chr8:8983449..8987686-chr8:8988360..8992569,4	K562	blood:
2	chr8:8982638..8984871-chr8:8985159..8987196,2	K562	blood:

Extended variants
information (count: 71 )
Associated
traits (count: 135 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573895354	chr8:8984915-8984916	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs370151692	chr8:8984990-8984991	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs570068030	chr8:8985016-8985017	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs117466651	chr8:8985090-8985091	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563021565	chr8:8985103-8985104	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs186418181	chr8:8985110-8985111	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs7013908	chr8:8985127-8985128	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs568606954	chr8:8985143-8985144	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141382253	chr8:8985232-8985233	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539947284	chr8:8985250-8985251	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs548098027	chr8:8985259-8985260	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570801030	chr8:8985268-8985269	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs368017035	chr8:8985279-8985280	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539092693	chr8:8985364-8985365	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs555692809	chr8:8985366-8985367	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs191766638	chr8:8985389-8985390	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs111387088	chr8:8985422-8985423	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs535496982	chr8:8985424-8985425	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs10095069	chr8:8985437-8985438	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs567074463	chr8:8985488-8985489	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs572231457	chr8:8985502-8985503	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs184313499	chr8:8985509-8985510	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs564416028	chr8:8985537-8985538	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs577998315	chr8:8985568-8985569	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs535696634	chr8:8985590-8985591	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs151300270	chr8:8985641-8985642	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs189287630	chr8:8985688-8985689	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs180863791	chr8:8985708-8985709	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs34694807	chr8:8985722-8985723	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs76219978	chr8:8985740-8985741	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs376427407	chr8:8985754-8985755	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs67136655	chr8:8985768-8985769	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs562020271	chr8:8985789-8985790	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs571282596	chr8:8985832-8985833	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs374163167	chr8:8985849-8985850	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs185562321	chr8:8985851-8985852	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs543761214	chr8:8985858-8985859	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs570813286	chr8:8985860-8985861	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs533404910	chr8:8985873-8985874	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs190440427	chr8:8985926-8985927	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs67664699	chr8:8985932-8985933	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs535081838	chr8:8985958-8985959	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs555470837	chr8:8985964-8985965	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs565631547	chr8:8985981-8985982	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs143257177	chr8:8986007-8986008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534867848	chr8:8986012-8986013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557940707	chr8:8986022-8986023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs578007468	chr8:8986037-8986038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540346277	chr8:8986043-8986044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543707924	chr8:8986048-8986049	Weak transcription	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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8962000-8991400	Weak transcription	Psoas Muscle	Psoas
2	chr8:8974600-8991600	Weak transcription	Aorta	Aorta
3	chr8:8981400-8989400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:8982600-8986000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:8983200-8989600	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr8:8983600-8985000	Weak transcription	Fetal Heart	heart
7	chr8:8983800-8992000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:8984400-8991400	Weak transcription	NHEK	skin
9	chr8:8985000-8985400	Enhancers	Fetal Heart	heart
10	chr8:8985400-8989200	Weak transcription	Fetal Heart	heart
11	chr8:8986000-8993000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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