Variant report

Variant	nsv1007861
Chromosome Location	chr1:98601247-98632963
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:98622786..98625310-chr1:98627256..98629352,2	K562	blood:
2	chr1:98608310..98608868-chr17:58754500..58755109,2	MCF-7	breast:
3	chr1:98622786..98625310-chr1:98627256..98629352,2	K562	blood:

Variant related genes	Relation type
ENSG00000141376	chromatin interactions

Extended variants
information (count: 1015 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:1015 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17117765	chr1:98601247-98601248	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568822045	chr1:98601329-98601330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs537572855	chr1:98601330-98601331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148751812	chr1:98601331-98601332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs17117766	chr1:98601353-98601354	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs189243611	chr1:98601493-98601494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142357722	chr1:98601532-98601533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554129898	chr1:98601555-98601556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs72737833	chr1:98601574-98601575	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs542891290	chr1:98601609-98601610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141391186	chr1:98601638-98601639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78890790	chr1:98601644-98601645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184993516	chr1:98601731-98601732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574025508	chr1:98601744-98601745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114966309	chr1:98601761-98601762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12754268	chr1:98601781-98601782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12758398	chr1:98601782-98601783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564198272	chr1:98601805-98601806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368001691	chr1:98601909-98601910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533349291	chr1:98601918-98601919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546764033	chr1:98602022-98602023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs72971360	chr1:98602025-98602026	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs150839955	chr1:98602047-98602048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs535557616	chr1:98602054-98602055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs72971363	chr1:98602077-98602078	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs189888948	chr1:98602080-98602081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557897842	chr1:98602081-98602082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12724306	chr1:98602094-98602095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200966640	chr1:98602109-98602110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181171561	chr1:98602142-98602143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571988385	chr1:98602152-98602153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573757891	chr1:98602175-98602176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542601841	chr1:98602220-98602221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1032196	chr1:98602249-98602250	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs78080511	chr1:98602258-98602259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372140137	chr1:98602265-98602266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544151903	chr1:98602267-98602268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs77172129	chr1:98602316-98602317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533221693	chr1:98602330-98602331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575204093	chr1:98602405-98602406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540316666	chr1:98602412-98602413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11165957	chr1:98602415-98602416	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs11165958	chr1:98602431-98602432	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs139254184	chr1:98602457-98602458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569495609	chr1:98602530-98602531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185177299	chr1:98602601-98602602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs551361187	chr1:98602611-98602612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145347019	chr1:98602663-98602664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs147755725	chr1:98602679-98602680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547465138	chr1:98602689-98602690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	22429812	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17133270	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal adenocarcinoma	18820669	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21922591	CNVD
Autism	17483303	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Intestinal disease	21956041	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Gastric cancer	16891809	CNVD
Schizophrenia	17879154	CNVD
Mental retardation	17124404	CNVD
Intestinal disease	17828263	CNVD
lymphocytic leukemia	21291569	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:98601000-98601400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:98601000-98601400	Enhancers	Osteobl	bone
3	chr1:98601200-98601400	Enhancers	NHDF-Ad	bronchial
4	chr1:98601400-98603000	Weak transcription	Osteobl	bone
5	chr1:98603000-98603200	Enhancers	Osteobl	bone
6	chr1:98608200-98609400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:98608800-98609400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:98608800-98609400	Enhancers	HMEC	breast
9	chr1:98608800-98609600	Enhancers	NHEK	skin
10	chr1:98608800-98609800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:98609400-98615200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:98610200-98610800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:98610400-98610800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:98612600-98613400	Enhancers	Dnd41	blood
15	chr1:98612800-98613200	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr1:98615200-98615800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:98615800-98636200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr1:98622200-98623200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:98622400-98624200	Enhancers	NHDF-Ad	bronchial
20	chr1:98622600-98622800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:98622600-98623200	Enhancers	Muscle Satellite Cultured Cells	--
22	chr1:98622800-98624200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:98623000-98623400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:98623200-98623600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr1:98623200-98623800	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr1:98623200-98623800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:98623200-98624000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:98623400-98623800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:98623400-98624000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:98623400-98624000	Enhancers	Osteobl	bone
31	chr1:98623400-98624200	Enhancers	HSMM	muscle
32	chr1:98623600-98624200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr1:98623800-98624000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr1:98628200-98629000	Enhancers	Dnd41	blood
35	chr1:98628800-98629200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:98629200-98629600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:98629600-98630800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr1:98629800-98631000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:98630200-98630600	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr1:98630400-98631000	Enhancers	Primary monocytes fromperipheralblood	blood

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