Variant report

Variant	nsv610166
Chromosome Location	chr8:8287217-8289899
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:8285563..8288242-chr8:8289388..8292203,2	K562	blood:
2	chr8:8286859..8289510-chr8:8290140..8291896,2	MCF-7	breast:
3	chr8:8285563..8288242-chr8:8289388..8292203,2	K562	blood:
4	chr8:8239788..8242444-chr8:8287010..8288532,2	MCF-7	breast:

Extended variants
information (count: 179 )
Associated
traits (count: 137 )

Variant overlapped rSNPs/rCNVs (count:179 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10101904	chr8:8287217-8287218	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs145307867	chr8:8287223-8287224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs75918049	chr8:8287229-8287230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10110942	chr8:8287281-8287282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566372831	chr8:8287287-8287288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535381090	chr8:8287288-8287289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558177299	chr8:8287307-8287308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140590009	chr8:8287347-8287348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572604256	chr8:8287348-8287349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2921093	chr8:8287383-8287384	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs557393350	chr8:8287391-8287392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573832521	chr8:8287397-8287398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12676822	chr8:8287398-8287399	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs566473109	chr8:8287450-8287451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552998677	chr8:8287462-8287463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572002653	chr8:8287478-8287479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376354944	chr8:8287495-8287496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540877201	chr8:8287514-8287515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553838496	chr8:8287515-8287516	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs62498669	chr8:8287526-8287527	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs149892584	chr8:8287542-8287543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113697756	chr8:8287589-8287590	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544628199	chr8:8287636-8287637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185429344	chr8:8287644-8287645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs4840342	chr8:8287646-8287647	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs573095594	chr8:8287651-8287652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs371562705	chr8:8287652-8287653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs62498670	chr8:8287713-8287714	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs189803368	chr8:8287723-8287724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs373054410	chr8:8287724-8287725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs140765917	chr8:8287756-8287757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376260329	chr8:8287765-8287766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs528287236	chr8:8287801-8287802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552024351	chr8:8287811-8287812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113181901	chr8:8287813-8287814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537637043	chr8:8287817-8287818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185704572	chr8:8287822-8287823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567420927	chr8:8287840-8287841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs144595253	chr8:8287878-8287879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370955677	chr8:8287898-8287899	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs374601093	chr8:8287901-8287902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs111945934	chr8:8287934-8287935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572871240	chr8:8287949-8287950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs17520086	chr8:8287967-8287968	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs115499434	chr8:8288003-8288004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs112960974	chr8:8288009-8288010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536706102	chr8:8288038-8288039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs577886660	chr8:8288091-8288092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191300757	chr8:8288124-8288125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs141423090	chr8:8288198-8288199	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:34 , 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	chr8:8284000-8287600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:8284600-8287400	Enhancers	Stomach Mucosa	stomach
4	chr8:8286000-8287400	Enhancers	NH-A	brain
5	chr8:8286000-8287600	Enhancers	HepG2	liver
6	chr8:8286200-8287400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr8:8286200-8287400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr8:8286200-8287400	Enhancers	HSMM	muscle
9	chr8:8286200-8287400	Enhancers	Osteobl	bone
10	chr8:8286200-8292600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:8286400-8287400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:8286400-8287400	Enhancers	HSMMtube	muscle
13	chr8:8286400-8287400	Enhancers	NHDF-Ad	bronchial
14	chr8:8286600-8287400	Enhancers	NHLF	lung
15	chr8:8286800-8287400	Enhancers	Placenta Amnion	Placenta Amnion
16	chr8:8287000-8287400	Enhancers	A549	lung
17	chr8:8287000-8288000	Enhancers	Placenta	Placenta
18	chr8:8287200-8287600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr8:8287200-8287600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr8:8287200-8287800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:8287400-8288800	Weak transcription	HSMMtube	muscle
22	chr8:8287400-8289600	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr8:8287600-8289600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr8:8287800-8288400	Enhancers	Fetal Muscle Leg	muscle
25	chr8:8288000-8289400	Weak transcription	Placenta	Placenta
26	chr8:8288400-8289600	Weak transcription	Fetal Muscle Leg	muscle
27	chr8:8288800-8290800	Enhancers	HSMMtube	muscle
28	chr8:8289400-8290400	Enhancers	Placenta	Placenta
29	chr8:8289400-8290600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr8:8289400-8290800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr8:8289600-8289800	Enhancers	Fetal Muscle Leg	muscle
32	chr8:8289600-8290000	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr8:8289600-8290000	Enhancers	Placenta Amnion	Placenta Amnion
34	chr8:8289600-8290600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links