Variant report

Variant	nsv1354
Chromosome Location	chr1:72431164-72475522
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:72463115..72465700-chr1:72466215..72468715,2	K562	blood:
2	chr1:72472788..72474801-chr1:72492789..72495541,2	K562	blood:
3	chr1:72467998..72470410-chr1:72472067..72474561,2	K562	blood:
4	chr1:72467998..72470410-chr1:72472067..72474561,2	K562	blood:
5	chr1:72463115..72465700-chr1:72466215..72468715,2	K562	blood:

Extended variants
information (count: 1296 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:1296 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547434122	chr1:72431451-72431452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567739850	chr1:72431507-72431508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs141882995	chr1:72431538-72431539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556623373	chr1:72431586-72431587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576130447	chr1:72431618-72431619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs570513468	chr1:72431624-72431625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185564035	chr1:72431627-72431628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558877718	chr1:72431639-72431640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572400644	chr1:72431703-72431704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116026170	chr1:72431717-72431718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560824143	chr1:72431722-72431723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375935332	chr1:72431740-72431741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574375258	chr1:72431797-72431798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs34456073	chr1:72431865-72431866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543121422	chr1:72431966-72431967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79778940	chr1:72431971-72431972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78541407	chr1:72432039-72432040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs531795659	chr1:72432045-72432046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545224240	chr1:72432066-72432067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534460425	chr1:72432103-72432104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs565234045	chr1:72432151-72432152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs78996394	chr1:72432159-72432160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547694071	chr1:72432165-72432166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190715269	chr1:72432222-72432223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs182949055	chr1:72432230-72432231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7514339	chr1:72432259-72432260	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs138043731	chr1:72432271-72432272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs7511981	chr1:72432317-72432318	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs35875753	chr1:72432324-72432325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570168664	chr1:72432387-72432388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs548210728	chr1:72432397-72432398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558838913	chr1:72432429-72432430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142826535	chr1:72432438-72432439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568438881	chr1:72432511-72432512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs144288166	chr1:72432624-72432625	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs554869113	chr1:72432644-72432645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs574316276	chr1:72432650-72432651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543439052	chr1:72432716-72432717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs74088782	chr1:72432736-72432737	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs545822286	chr1:72432826-72432827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs148337342	chr1:72432854-72432855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs545187438	chr1:72432907-72432908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs188018653	chr1:72432908-72432909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565096872	chr1:72432909-72432910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113141139	chr1:72432912-72432913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs190983725	chr1:72432958-72432959	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs75345107	chr1:72432959-72432960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550180871	chr1:72432965-72432966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs377411539	chr1:72433005-72433006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183052596	chr1:72433054-72433055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
Recurrent pregnancy loss	19789632	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:150 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72431400-72433600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr1:72432000-72432800	Enhancers	Brain Substantia Nigra	brain
3	chr1:72432200-72432800	Enhancers	Fetal Heart	heart
4	chr1:72432200-72434200	Enhancers	Dnd41	blood
5	chr1:72432400-72433800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:72432800-72437600	Weak transcription	Fetal Heart	heart
7	chr1:72433200-72434000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:72433400-72434200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:72433600-72434000	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr1:72434000-72435200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:72434000-72439400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr1:72435200-72435800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:72435800-72439400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:72437600-72438000	Enhancers	Fetal Heart	heart
15	chr1:72438000-72443600	Weak transcription	Fetal Heart	heart
16	chr1:72439400-72439800	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr1:72439400-72440000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:72440800-72441200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:72443600-72446200	Enhancers	Fetal Heart	heart
20	chr1:72444600-72447400	Enhancers	Dnd41	blood
21	chr1:72446200-72446600	Enhancers	Primary T cells from cord blood	blood
22	chr1:72446200-72446600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:72446200-72446600	Flanking Active TSS	Fetal Heart	heart
24	chr1:72446200-72446600	Enhancers	Thymus	Thymus
25	chr1:72446600-72447400	Enhancers	Fetal Heart	heart
26	chr1:72447400-72447800	Weak transcription	Fetal Heart	heart
27	chr1:72447800-72448800	Enhancers	Fetal Heart	heart
28	chr1:72448800-72449200	Weak transcription	Fetal Heart	heart
29	chr1:72449200-72449400	Enhancers	Fetal Heart	heart
30	chr1:72449400-72452000	Weak transcription	Fetal Heart	heart
31	chr1:72451600-72452400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:72451800-72452200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:72451800-72452200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:72451800-72452400	Enhancers	Muscle Satellite Cultured Cells	--
35	chr1:72451800-72452800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr1:72451800-72453200	Enhancers	Colon Smooth Muscle	Colon
37	chr1:72452000-72452400	Enhancers	Ovary	ovary
38	chr1:72452000-72452400	Enhancers	NH-A	brain
39	chr1:72452000-72453400	Enhancers	Fetal Muscle Leg	muscle
40	chr1:72452000-72453600	Enhancers	Fetal Heart	heart
41	chr1:72452000-72454000	Enhancers	Fetal Stomach	stomach
42	chr1:72452200-72452600	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr1:72452200-72452600	Enhancers	Stomach Smooth Muscle	stomach
44	chr1:72452200-72453200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr1:72452200-72453400	Enhancers	Right Atrium	heart
46	chr1:72452400-72452600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:72452400-72452800	Weak transcription	Ovary	ovary
48	chr1:72452800-72454000	Enhancers	Ovary	ovary
49	chr1:72453200-72453400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:72453400-72453600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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