Variant report

Variant	nsv947270
Chromosome Location	chr1:72249454-72253537
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 139 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369006686	chr1:72249458-72249459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs141527109	chr1:72249479-72249480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548084184	chr1:72249516-72249517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs568302754	chr1:72249520-72249521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75734721	chr1:72249522-72249523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs376448737	chr1:72249523-72249524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564749532	chr1:72249524-72249525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149689633	chr1:72249556-72249557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs34429157	chr1:72249559-72249560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs66785622	chr1:72249560-72249561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570442558	chr1:72249570-72249571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs12070980	chr1:72249576-72249577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs536795112	chr1:72249590-72249591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs76133159	chr1:72249597-72249598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs72948012	chr1:72249653-72249654	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535173947	chr1:72249704-72249705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs180948746	chr1:72249754-72249755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs149703430	chr1:72249759-72249760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147348016	chr1:72249780-72249781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs115108078	chr1:72249825-72249826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs1459798	chr1:72249861-72249862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545840272	chr1:72250015-72250016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs139483754	chr1:72250078-72250079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573007429	chr1:72250112-72250113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541972102	chr1:72250116-72250117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs561754300	chr1:72250130-72250131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145280827	chr1:72250149-72250150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538161249	chr1:72250179-72250180	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550588128	chr1:72250262-72250263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564416026	chr1:72250353-72250354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs532954254	chr1:72250401-72250402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546621969	chr1:72250406-72250407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs1844791	chr1:72250420-72250421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs1844790	chr1:72250496-72250497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs566532619	chr1:72250525-72250526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs185176561	chr1:72250542-72250543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs147644867	chr1:72250547-72250548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs190383478	chr1:72250635-72250636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs12062084	chr1:72250758-72250759	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs12021526	chr1:72250759-72250760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577120426	chr1:72250763-72250764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552798926	chr1:72250773-72250774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs1844789	chr1:72250856-72250857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs568101116	chr1:72250891-72250892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376974405	chr1:72250895-72250896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573258654	chr1:72250910-72250911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541938478	chr1:72250918-72250919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572859349	chr1:72250928-72250929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs151207140	chr1:72250975-72250976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556221558	chr1:72251001-72251002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
small cell lung cancer	20016488	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
Pancreatic cancer	17952125	CNVD
body mass index	19812545	CNVD
Obesity	20935630	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72239000-72252600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:72239600-72251200	Weak transcription	Fetal Stomach	stomach
3	chr1:72240600-72256600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr1:72245600-72249800	Enhancers	Dnd41	blood
5	chr1:72247000-72254400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:72247400-72251200	Weak transcription	Thymus	Thymus
7	chr1:72248400-72249800	Enhancers	Rectal Smooth Muscle	rectum
8	chr1:72248600-72251600	Enhancers	Colon Smooth Muscle	Colon
9	chr1:72248800-72249600	Enhancers	Primary hematopoietic stem cells	blood
10	chr1:72249200-72249600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr1:72249200-72254000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:72249600-72251000	Enhancers	Pancreatic Islets	Pancreatic Islet
13	chr1:72249600-72257000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr1:72249800-72250400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr1:72250200-72252400	Enhancers	Fetal Lung	lung
16	chr1:72250400-72251600	Enhancers	Fetal Kidney	kidney
17	chr1:72250400-72251600	Enhancers	Rectal Smooth Muscle	rectum
18	chr1:72250600-72251400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:72250800-72251000	Enhancers	Pancreas	Pancrea
20	chr1:72250800-72251400	Enhancers	Gastric	stomach
21	chr1:72250800-72251400	Enhancers	Stomach Smooth Muscle	stomach
22	chr1:72250800-72251600	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr1:72250800-72251600	Enhancers	Aorta	Aorta
24	chr1:72250800-72251600	Enhancers	Right Atrium	heart
25	chr1:72250800-72251600	Enhancers	Right Ventricle	heart
26	chr1:72250800-72251800	Enhancers	Adipose Nuclei	Adipose
27	chr1:72251000-72252200	Weak transcription	Pancreas	Pancrea
28	chr1:72251000-72256000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr1:72251200-72251400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:72251200-72251600	Enhancers	Fetal Stomach	stomach
31	chr1:72251200-72251600	Enhancers	Thymus	Thymus
32	chr1:72251200-72252800	Enhancers	Fetal Heart	heart
33	chr1:72251200-72252800	Enhancers	Fetal Muscle Leg	muscle
34	chr1:72251400-72252400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr1:72251600-72252400	Weak transcription	Right Ventricle	heart
36	chr1:72251600-72254600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr1:72251600-72254800	Weak transcription	Colon Smooth Muscle	Colon
38	chr1:72252200-72252400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:72252200-72253600	Enhancers	Pancreas	Pancrea
40	chr1:72252600-72252800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr1:72252600-72252800	Enhancers	Right Ventricle	heart

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