Variant report

Variant	nsv610170
Chromosome Location	chr8:8288638-8290350
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:8286859..8289510-chr8:8290140..8291896,2	MCF-7	breast:
2	chr8:8286859..8289510-chr8:8290140..8291896,2	MCF-7	breast:
3	chr8:8285563..8288242-chr8:8289388..8292203,2	K562	blood:

Extended variants
information (count: 127 )
Associated
traits (count: 137 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183497489	chr8:8288707-8288708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs77321440	chr8:8288755-8288756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs530212926	chr8:8288803-8288804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546827093	chr8:8288819-8288820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566619503	chr8:8288832-8288833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs143864111	chr8:8288847-8288848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552644421	chr8:8288848-8288849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569117829	chr8:8288849-8288850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575082732	chr8:8288855-8288856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575850276	chr8:8288868-8288869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376020227	chr8:8288906-8288907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs557265213	chr8:8288907-8288908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188594650	chr8:8288911-8288912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs372156778	chr8:8288985-8288986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544716469	chr8:8288998-8288999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140654615	chr8:8288999-8289000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs193126899	chr8:8289048-8289049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183221677	chr8:8289050-8289051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10090619	chr8:8289066-8289067	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs575105632	chr8:8289067-8289068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs543836195	chr8:8289089-8289090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs111873938	chr8:8289134-8289135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530369195	chr8:8289149-8289150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186801851	chr8:8289190-8289191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs377628307	chr8:8289197-8289198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs74436769	chr8:8289198-8289199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370915947	chr8:8289199-8289200	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs35747440	chr8:8289205-8289206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs35678462	chr8:8289206-8289207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs60227161	chr8:8289227-8289228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs142248253	chr8:8289228-8289229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs58061999	chr8:8289229-8289230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs71217298	chr8:8289233-8289234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201595558	chr8:8289234-8289235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs201628929	chr8:8289235-8289236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs200126768	chr8:8289236-8289237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2976839	chr8:8289237-8289238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs200300542	chr8:8289239-8289240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs376989888	chr8:8289243-8289244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs201304407	chr8:8289244-8289245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs59078718	chr8:8289245-8289246	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs71217299	chr8:8289246-8289247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552355314	chr8:8289247-8289248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs569355235	chr8:8289249-8289250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs531585503	chr8:8289251-8289252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140491929	chr8:8289252-8289253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs62498672	chr8:8289253-8289254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs60530595	chr8:8289263-8289264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191320436	chr8:8289265-8289266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs567556017	chr8:8289269-8289270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:137)

Disease	PMID	Source
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
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
Colorectal cancer	16774939	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8273200-8289400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:8286200-8292600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:8287400-8288800	Weak transcription	HSMMtube	muscle
4	chr8:8287400-8289600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr8:8287600-8289600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:8288000-8289400	Weak transcription	Placenta	Placenta
7	chr8:8288400-8289600	Weak transcription	Fetal Muscle Leg	muscle
8	chr8:8288800-8290800	Enhancers	HSMMtube	muscle
9	chr8:8289400-8290400	Enhancers	Placenta	Placenta
10	chr8:8289400-8290600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:8289400-8290800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:8289600-8289800	Enhancers	Fetal Muscle Leg	muscle
13	chr8:8289600-8290000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr8:8289600-8290000	Enhancers	Placenta Amnion	Placenta Amnion
15	chr8:8289600-8290600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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