Variant report

Variant	nsv546486
Chromosome Location	chr1:72654730-72729142
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	chr1:72708937..72709709-chr2:107409969..107410778,2	MCF-7	breast:

Extended variants
information (count: 2324 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:2324 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2298152	chr1:72654730-72654731	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs12075999	chr1:72654808-72654809	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs2821291	chr1:72654816-72654817	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs577472456	chr1:72654833-72654834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552918785	chr1:72654879-72654880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546144483	chr1:72654890-72654891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559805534	chr1:72654892-72654893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528531533	chr1:72654929-72654930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548595222	chr1:72654964-72654965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs188668409	chr1:72654985-72654986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530865896	chr1:72655007-72655008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554715224	chr1:72655008-72655009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192993064	chr1:72655032-72655033	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570519882	chr1:72655045-72655046	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539743400	chr1:72655068-72655069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183236170	chr1:72655069-72655070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs537096906	chr1:72655103-72655104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116173562	chr1:72655108-72655109	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554940215	chr1:72655118-72655119	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188112741	chr1:72655120-72655121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74088180	chr1:72655122-72655123	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs577337327	chr1:72655153-72655154	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191329365	chr1:72655155-72655156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556572126	chr1:72655181-72655182	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553745962	chr1:72655198-72655199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573576904	chr1:72655256-72655257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138228370	chr1:72655325-72655326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183863527	chr1:72655342-72655343	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531050193	chr1:72655364-72655365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs2298151	chr1:72655369-72655370	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs189323308	chr1:72655385-72655386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533014052	chr1:72655405-72655406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs372151457	chr1:72655469-72655470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546379849	chr1:72655491-72655492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111808372	chr1:72655499-72655500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs35436702	chr1:72655532-72655533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529106039	chr1:72655568-72655569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374833238	chr1:72655623-72655624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6672863	chr1:72655636-72655637	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs146060543	chr1:72655637-72655638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs560276702	chr1:72655729-72655730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140161166	chr1:72655734-72655735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571312714	chr1:72655755-72655756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs367815493	chr1:72655759-72655760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540087916	chr1:72655771-72655772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs17092442	chr1:72655787-72655788	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs573590514	chr1:72655819-72655820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75405149	chr1:72655880-72655881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555753540	chr1:72655937-72655938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192542797	chr1:72655944-72655945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	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
Melanoma	17363583	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
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	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
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:175 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72644400-72668200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr1:72649800-72655000	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr1:72651200-72657800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr1:72651400-72655000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:72651400-72660200	Weak transcription	Osteobl	bone
6	chr1:72652000-72654800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:72653000-72657800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:72654400-72655200	Weak transcription	Colon Smooth Muscle	Colon
9	chr1:72654600-72655000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:72654800-72655400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:72655000-72655200	Enhancers	NHDF-Ad	bronchial
12	chr1:72655000-72655400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:72655000-72655400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr1:72655000-72660000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:72655200-72655600	Enhancers	Colon Smooth Muscle	Colon
16	chr1:72655200-72663400	Weak transcription	NHDF-Ad	bronchial
17	chr1:72655400-72660200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr1:72655400-72663200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:72655400-72663400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:72655600-72658400	Weak transcription	Colon Smooth Muscle	Colon
21	chr1:72657400-72658000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr1:72657800-72658400	Enhancers	Rectal Smooth Muscle	rectum
23	chr1:72657800-72658400	Enhancers	Stomach Smooth Muscle	stomach
24	chr1:72657800-72659000	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr1:72658000-72660400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:72658400-72658800	Enhancers	Colon Smooth Muscle	Colon
27	chr1:72658400-72660200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr1:72658800-72660200	Weak transcription	Colon Smooth Muscle	Colon
29	chr1:72659000-72660200	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr1:72660000-72660400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:72660000-72660400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:72660200-72660400	Active TSS	Brain Substantia Nigra	brain
33	chr1:72660200-72660400	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr1:72660200-72660600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:72660200-72660600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr1:72660200-72660600	Enhancers	Colon Smooth Muscle	Colon
37	chr1:72660200-72660600	Enhancers	NHLF	lung
38	chr1:72660200-72660600	Enhancers	Osteobl	bone
39	chr1:72660200-72660800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr1:72660200-72660800	Enhancers	Rectal Smooth Muscle	rectum
41	chr1:72660400-72660600	Enhancers	Brain Substantia Nigra	brain
42	chr1:72660400-72660800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:72660400-72660800	Enhancers	Brain Anterior Caudate	brain
44	chr1:72660400-72660800	Enhancers	Pancreas	Pancrea
45	chr1:72660400-72663200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:72660600-72660800	Flanking Active TSS	Brain Substantia Nigra	brain
47	chr1:72660600-72663000	Weak transcription	Osteobl	bone
48	chr1:72660600-72663400	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr1:72660800-72663800	Weak transcription	Brain Substantia Nigra	brain
50	chr1:72663000-72663600	Enhancers	Osteobl	bone

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