Variant report

Variant	nsv946305
Chromosome Location	chr1:146805697-146829259
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	chr1:146806520..146809758-chr1:146812607..146814433,3	K562	blood:
2	chr1:146806520..146809758-chr1:146812607..146814433,3	K562	blood:

Extended variants
information (count: 427 )
Associated
traits (count: 158 )

Variant overlapped rSNPs/rCNVs (count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182237855	chr1:146805760-146805761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs587708936	chr1:146805767-146805768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs145480430	chr1:146805774-146805775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs184892915	chr1:146805793-146805794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs587718057	chr1:146805866-146805867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138016617	chr1:146805869-146805870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs587679817	chr1:146805964-146805965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs587738705	chr1:146805992-146805993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs374428175	chr1:146806005-146806006	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs587595171	chr1:146806011-146806012	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs149545581	chr1:146806050-146806051	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs372173605	chr1:146806081-146806082	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs587620627	chr1:146806088-146806089	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs144121995	chr1:146806136-146806137	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs587762601	chr1:146806153-146806154	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs189702560	chr1:146806258-146806259	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs587719277	chr1:146806262-146806263	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs587772152	chr1:146806263-146806264	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs587654381	chr1:146806271-146806272	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs74122341	chr1:146806332-146806333	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs374793190	chr1:146806362-146806363	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs76747825	chr1:146806363-146806364	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs182687568	chr1:146806365-146806366	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs587761796	chr1:146806385-146806386	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs368855543	chr1:146806423-146806424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs587716490	chr1:146806424-146806425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147340067	chr1:146806432-146806433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs587672288	chr1:146806459-146806460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188211927	chr1:146806483-146806484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139581666	chr1:146806541-146806542	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs587655657	chr1:146806577-146806578	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376002769	chr1:146806588-146806589	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs587637933	chr1:146806595-146806596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs587696958	chr1:146806604-146806605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74122342	chr1:146806605-146806606	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs587625027	chr1:146806636-146806637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145092953	chr1:146806643-146806644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs587764975	chr1:146806672-146806673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75167738	chr1:146806700-146806701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150675177	chr1:146806706-146806707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192962622	chr1:146806713-146806714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs587636809	chr1:146806764-146806765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12060069	chr1:146806772-146806773	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs587661336	chr1:146806832-146806833	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188829899	chr1:146806842-146806843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192376386	chr1:146806858-146806859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs587706743	chr1:146806909-146806910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs587598227	chr1:146806956-146806957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs139857554	chr1:146806991-146806992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149863723	chr1:146806999-146807000	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:158)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	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
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Neuroblastoma	21124317	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	20970697	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Addison''s disease	21851588	CNVD
Heart disease	22199024	CNVD
Mental retardation	19951919	CNVD
Ovarian cancer	20844748	CNVD
Schizophrenia	21399695	CNVD
Prostate cancer	17217626	CNVD
Congenital heart defect	22199024	CNVD
TAR Syndrome	17847015	CNVD
Thrombocytopenia-absent radius syndrome	17236129	CNVD
Autism	18784092	CNVD
Congenital abnormalities	18784092	CNVD
Mental retardation	18784092	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	19521722	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	19521646	CNVD
Neuroblastoma	19536264	CNVD
Epilepsy	20923578	CNVD
Mental retardation	17124404	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18668039	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19571808	CNVD
Velocardiofacial syndrome	19329560	CNVD
Autism	19955444	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Colorectal cancer	20459617	CNVD
Osteosarcoma	19286668	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21509527	CNVD
Tetralogy of Fallot	22912587	CNVD
Bladder cancer	21909424	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Lung squamous cell carcinoma	20842114	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:146803400-146805800	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr1:146803600-146806000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr1:146803800-146806000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr1:146803800-146806000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr1:146805200-146806800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:146805400-146811200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr1:146805600-146806000	Enhancers	K562	blood
8	chr1:146805600-146807800	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr1:146805800-146806200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:146805800-146806400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr1:146805800-146806600	Enhancers	Brain Germinal Matrix	brain
12	chr1:146806000-146806200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr1:146806000-146806400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:146806000-146806400	Flanking Active TSS	K562	blood
15	chr1:146806000-146806600	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr1:146806000-146806800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr1:146806000-146807800	Enhancers	H9 Cell Line	embryonic stem cell
18	chr1:146806000-146808200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr1:146806000-146808200	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr1:146806200-146806400	Enhancers	H1 Cell Line	embryonic stem cell
21	chr1:146806200-146806400	Enhancers	Brain Anterior Caudate	brain
22	chr1:146806200-146808800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr1:146806200-146809400	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr1:146806400-146806800	Enhancers	K562	blood
25	chr1:146806400-146807400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr1:146806400-146807400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:146806400-146808400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr1:146806600-146807600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr1:146806800-146807200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:146806800-146807400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr1:146807200-146808800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr1:146807400-146807600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:146807400-146807600	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr1:146807400-146808800	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr1:146807600-146808000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:146807600-146808200	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr1:146807800-146808200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr1:146807800-146809200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr1:146807800-146809600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:146808000-146808800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:146808000-146809200	Enhancers	Fetal Brain Male	brain
42	chr1:146808000-146809400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:146808200-146808400	Enhancers	H9 Cell Line	embryonic stem cell
44	chr1:146808200-146808400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr1:146808200-146808600	Enhancers	Fetal Brain Female	brain
46	chr1:146808200-146808800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
47	chr1:146808200-146808800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr1:146808200-146809600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:146808400-146808600	Enhancers	H1 Cell Line	embryonic stem cell
50	chr1:146808400-146808600	Enhancers	HUES64 Cell Line	embryonic stem cell

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