Variant report

Variant	nsv946299
Chromosome Location	chr1:146573145-146576352
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:146570783..146573419-chr1:146712949..146715196,2	K562	blood:
2	chr1:146567159..146569468-chr1:146570650..146573581,3	K562	blood:
3	chr1:146554430..146558928-chr1:146575655..146584919,15	K562	blood:
4	chr1:146575479..146577684-chr1:146581433..146583404,2	MCF-7	breast:
5	chr1:146574262..146577052-chr1:146577536..146580116,2	MCF-7	breast:
6	chr1:146555308..146557751-chr1:146572492..146574636,3	MCF-7	breast:
7	chr1:146575817..146577573-chr1:146595661..146597625,2	K562	blood:
8	chr1:146576066..146579009-chr1:146608253..146611072,2	K562	blood:
9	chr1:146567307..146569991-chr1:146571439..146575715,4	MCF-7	breast:
10	chr1:146574798..146576779-chr1:146578232..146580088,2	MCF-7	breast:
11	chr1:146570716..146572367-chr1:146572774..146574443,2	K562	blood:
12	chr1:146554885..146558928-chr1:146575770..146578290,4	K562	blood:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRKAB2-4	chr1:146573038-146573251	NONHSAT005996

No data

Variant related genes	Relation type
ENSG00000230832	chromatin interactions
ENSG00000227242	chromatin interactions
ENSG00000131781	chromatin interactions
ENSG00000131778	chromatin interactions

Extended variants
information (count: 148 )
Associated
traits (count: 156 )

Variant overlapped rSNPs/rCNVs (count:148 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12042249	chr1:146573150-146573151	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs587656511	chr1:146573190-146573191	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs587707494	chr1:146573244-146573245	Weak transcription Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs587610584	chr1:146573267-146573268	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs113681982	chr1:146573288-146573289	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs112449576	chr1:146573353-146573354	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs367704260	chr1:146573354-146573355	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs587722440	chr1:146573458-146573459	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs587599995	chr1:146573464-146573465	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs587675436	chr1:146573467-146573468	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76986015	chr1:146573503-146573504	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs587620815	chr1:146573542-146573543	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371493918	chr1:146573568-146573569	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1808910	chr1:146573579-146573580	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs587734356	chr1:146573586-146573587	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150661958	chr1:146573587-146573588	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181070486	chr1:146573627-146573628	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186120559	chr1:146573658-146573659	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141058067	chr1:146573677-146573678	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs587721564	chr1:146573682-146573683	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs188411266	chr1:146573695-146573696	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181263660	chr1:146573720-146573721	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs587647434	chr1:146573847-146573848	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs587708924	chr1:146573899-146573900	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185778134	chr1:146573914-146573915	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190625983	chr1:146573942-146573943	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs111898814	chr1:146573943-146573944	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144942994	chr1:146573947-146573948	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs587597489	chr1:146573953-146573954	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184011706	chr1:146573985-146573986	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187395846	chr1:146573991-146573992	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs147943636	chr1:146574002-146574003	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs372322191	chr1:146574016-146574017	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192295592	chr1:146574048-146574049	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182404539	chr1:146574066-146574067	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186864839	chr1:146574069-146574070	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs587689019	chr1:146574173-146574174	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs2017489	chr1:146574189-146574190	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs191687897	chr1:146574192-146574193	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs12089108	chr1:146574220-146574221	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs587630100	chr1:146574235-146574236	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75932188	chr1:146574246-146574247	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182787126	chr1:146574270-146574271	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs587763588	chr1:146574289-146574290	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139879302	chr1:146574310-146574311	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs587718578	chr1:146574315-146574316	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145344025	chr1:146574316-146574317	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187470125	chr1:146574327-146574328	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs587704779	chr1:146574355-146574356	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192983779	chr1:146574357-146574358	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:156)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:146568600-146575000	Strong transcription	Liver	Liver
2	chr1:146571400-146575800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:146573800-146575200	Enhancers	Dnd41	blood
4	chr1:146574200-146574600	Enhancers	Primary B cells from cord blood	blood
5	chr1:146574800-146575000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:146574800-146576600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:146575000-146575800	Weak transcription	Liver	Liver
8	chr1:146575000-146575800	Enhancers	Placenta	Placenta
9	chr1:146575000-146576000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:146575000-146578800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:146575400-146575800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:146575800-146576000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:146575800-146576200	Enhancers	Liver	Liver
14	chr1:146575800-146577400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:146575800-146577400	Weak transcription	Placenta	Placenta
16	chr1:146576000-146576200	Enhancers	HUVEC	blood vessel
17	chr1:146576000-146576600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:146576000-146576600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:146576200-146577000	Weak transcription	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links