Variant report

Variant	nsv972229
Chromosome Location	chr8:9966193-9968922
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	chr8:9968733..9972257-chr8:9973876..9975676,3	K562	blood:
2	chr8:9959952..9962225-chr8:9964575..9967404,2	MCF-7	breast:

Extended variants
information (count: 155 )
Associated
traits (count: 136 )

Variant overlapped rSNPs/rCNVs (count:155 , 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	rs539262092	chr8:9966210-9966211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs566855855	chr8:9966229-9966230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140002310	chr8:9966250-9966251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145503853	chr8:9966272-9966273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185463436	chr8:9966273-9966274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189943892	chr8:9966276-9966277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs372404277	chr8:9966316-9966317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147721652	chr8:9966325-9966326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376739181	chr8:9966329-9966330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142578616	chr8:9966382-9966383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545975096	chr8:9966402-9966403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558709689	chr8:9966453-9966454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs34721255	chr8:9966455-9966456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566390039	chr8:9966491-9966492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs116758804	chr8:9966584-9966585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs149851318	chr8:9966585-9966586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs1994224	chr8:9966586-9966587	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs554183887	chr8:9966589-9966590	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577075680	chr8:9966633-9966634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs115023684	chr8:9966659-9966660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562166196	chr8:9966677-9966678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181208944	chr8:9966699-9966700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541558459	chr8:9966702-9966703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs561509484	chr8:9966709-9966710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs79602299	chr8:9966748-9966749	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543553584	chr8:9966819-9966820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547263926	chr8:9966833-9966834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555426760	chr8:9966837-9966838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs184966582	chr8:9966842-9966843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532859899	chr8:9966847-9966848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs575291642	chr8:9966853-9966854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs367950033	chr8:9966861-9966862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138778088	chr8:9966864-9966865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552579275	chr8:9966880-9966881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs569292788	chr8:9966905-9966906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs190832495	chr8:9966925-9966926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548437504	chr8:9966932-9966933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563849168	chr8:9966945-9966946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs73528940	chr8:9966954-9966955	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs533707085	chr8:9967007-9967008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553932786	chr8:9967024-9967025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576697587	chr8:9967096-9967097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183982119	chr8:9967101-9967102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555723832	chr8:9967107-9967108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575660201	chr8:9967118-9967119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188881344	chr8:9967121-9967122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145880964	chr8:9967136-9967137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572117664	chr8:9967139-9967140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369450157	chr8:9967141-9967142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546010134	chr8:9967142-9967143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:136)

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
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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9959800-9974000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:9961200-9967400	Weak transcription	Primary T cells from cord blood	blood
3	chr8:9961400-9970400	Weak transcription	Pancreas	Pancrea
4	chr8:9962000-9969000	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr8:9962600-9966800	Weak transcription	Spleen	Spleen
6	chr8:9963000-9970200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:9963200-9966200	Weak transcription	Brain Germinal Matrix	brain
8	chr8:9963200-9970400	Weak transcription	Aorta	Aorta
9	chr8:9963800-9967200	Enhancers	Fetal Brain Male	brain
10	chr8:9964800-9966800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr8:9965000-9966800	Enhancers	Rectal Smooth Muscle	rectum
12	chr8:9965000-9967200	Enhancers	Fetal Brain Female	brain
13	chr8:9965400-9966600	Enhancers	Brain Angular Gyrus	brain
14	chr8:9965400-9966800	Enhancers	Brain Anterior Caudate	brain
15	chr8:9965400-9967000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr8:9965400-9967000	Enhancers	Stomach Smooth Muscle	stomach
17	chr8:9965400-9967200	Enhancers	Colon Smooth Muscle	Colon
18	chr8:9965600-9966200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr8:9965600-9966600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr8:9965800-9966400	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr8:9965800-9966600	Enhancers	Fetal Heart	heart
22	chr8:9965800-9966600	Enhancers	Ovary	ovary
23	chr8:9965800-9966600	Enhancers	Psoas Muscle	Psoas
24	chr8:9965800-9967600	Enhancers	Fetal Lung	lung
25	chr8:9966000-9967000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:9966000-9975800	Weak transcription	Right Atrium	heart
27	chr8:9966200-9966600	Enhancers	Brain Germinal Matrix	brain
28	chr8:9966200-9966600	Enhancers	Fetal Muscle Leg	muscle
29	chr8:9966800-9967000	Enhancers	Spleen	Spleen
30	chr8:9966800-9967400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr8:9966800-9969200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr8:9967000-9967200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr8:9967200-9975800	Weak transcription	Fetal Brain Male	brain
34	chr8:9967200-9977400	Weak transcription	Fetal Brain Female	brain
35	chr8:9967400-9967600	Enhancers	Rectal Smooth Muscle	rectum
36	chr8:9968200-9968600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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