Variant report

Variant	nsv823387
Chromosome Location	chr1:84876670-84877290
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149919241	chr1:84876680-84876681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs3105610	chr1:84876700-84876701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78247834	chr1:84876710-84876711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs199974554	chr1:84876711-84876712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs67734584	chr1:84876712-84876713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs180791234	chr1:84876722-84876723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs1506700	chr1:84876731-84876732	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs146489254	chr1:84876735-84876736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558924581	chr1:84876763-84876764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575267576	chr1:84876765-84876766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544479671	chr1:84876782-84876783	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186278731	chr1:84876809-84876810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554223551	chr1:84876903-84876904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs3121147	chr1:84876983-84876984	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs75450182	chr1:84876990-84876991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs3121148	chr1:84877027-84877028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs117188746	chr1:84877047-84877048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs200268747	chr1:84877109-84877110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs113698717	chr1:84877113-84877114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541414404	chr1:84877144-84877145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs71097845	chr1:84877159-84877160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs147046401	chr1:84877168-84877169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147074324	chr1:84877169-84877170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs144722469	chr1:84877177-84877178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12026836	chr1:84877267-84877268	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	16397240	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84872400-84876800	Weak transcription	Gastric	stomach
2	chr1:84874000-84878200	Weak transcription	Psoas Muscle	Psoas
3	chr1:84874200-84878000	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr1:84874200-84878200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr1:84874400-84878200	Weak transcription	Aorta	Aorta
6	chr1:84874800-84877000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:84874800-84877000	Enhancers	Fetal Intestine Large	intestine
8	chr1:84874800-84877000	Enhancers	Fetal Intestine Small	intestine
9	chr1:84874800-84877000	Enhancers	Stomach Mucosa	stomach
10	chr1:84875000-84876800	Enhancers	Brain Hippocampus Middle	brain
11	chr1:84875400-84877000	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr1:84875600-84878200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr1:84876000-84877000	Enhancers	HUVEC	blood vessel
14	chr1:84876200-84876800	Enhancers	Brain Cingulate Gyrus	brain
15	chr1:84876200-84877000	Enhancers	Duodenum Mucosa	Duodenum
16	chr1:84876200-84877200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:84876400-84877400	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr1:84876400-84878000	Enhancers	Osteobl	bone
19	chr1:84876600-84876800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:84876800-84877000	Enhancers	Gastric	stomach
21	chr1:84876800-84877000	Enhancers	Small Intestine	intestine
22	chr1:84876800-84878200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:84877000-84880200	Weak transcription	HUVEC	blood vessel

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