Variant report

Variant	nsv946738
Chromosome Location	chr1:144539823-144545263
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	chr1:144545202..144547010-chr2:5773815..5775742,3	K562	blood:
2	chr1:144542791..144546909-chr2:5773043..5778423,6	MCF-7	breast:
3	chr1:144538364..144541386-chr2:5768666..5771588,4	MCF-7	breast:
4	chr1:144542148..144544769-chr1:144547258..144549034,2	K562	blood:
5	chr1:144538892..144541763-chr2:5768578..5771170,6	MCF-7	breast:
6	chr1:144541146..144543284-chr1:144543970..144546879,2	K562	blood:
7	chr1:144539250..144543417-chr1:149221777..149225328,4	MCF-7	breast:
8	chr1:144538903..144539892-chr2:5769586..5770994,3	MCF-7	breast:
9	chr1:144542997..144547075-chr2:5772380..5776386,6	MCF-7	breast:
10	chr1:144543935..144546145-chr1:149223071..149224950,2	K562	blood:
11	chr1:144541146..144543284-chr1:144543970..144546879,2	K562	blood:
12	chr1:144538349..144541013-chr1:144548761..144550305,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL592284.1-2	chr1:144544950-144545289	NONHSAT005812

No data

Variant related genes	Relation type
ENSG00000206737	chromatin interactions

Extended variants
information (count: 217 )
Associated
traits (count: 164 )

Variant overlapped rSNPs/rCNVs (count:217 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587641062	chr1:144539872-144539873	Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs149442747	chr1:144539929-144539930	Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs146390241	chr1:144539983-144539984	Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs873629	chr1:144539998-144539999	Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs471968	chr1:144540009-144540010	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs587704824	chr1:144540028-144540029	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs60287747	chr1:144540041-144540042	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs144377174	chr1:144540117-144540118	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs11586161	chr1:144540150-144540151	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs587656633	chr1:144540193-144540194	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs587716189	chr1:144540210-144540211	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs75286166	chr1:144540244-144540245	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs141250937	chr1:144540270-144540271	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs138634956	chr1:144540284-144540285	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs587612651	chr1:144540318-144540319	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs873631	chr1:144540342-144540343	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs587642784	chr1:144540373-144540374	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs587722397	chr1:144540374-144540375	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs67164433	chr1:144540397-144540398	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs587601114	chr1:144540480-144540481	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs150176224	chr1:144540524-144540525	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs113433973	chr1:144540575-144540576	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs56165878	chr1:144540594-144540595	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs13375697	chr1:144540610-144540611	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs55637051	chr1:144540625-144540626	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs141357923	chr1:144540659-144540660	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs587729296	chr1:144540666-144540667	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs587602726	chr1:144540684-144540685	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs587684471	chr1:144540687-144540688	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs587762632	chr1:144540722-144540723	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs61801164	chr1:144540744-144540745	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs587633638	chr1:144540753-144540754	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs1687149	chr1:144540778-144540779	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs201851112	chr1:144540787-144540788	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs200403325	chr1:144540849-144540850	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs587713305	chr1:144540851-144540852	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs74333721	chr1:144540921-144540922	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs56185415	chr1:144540947-144540948	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs587723884	chr1:144540954-144540955	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs587625969	chr1:144540963-144540964	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs201789773	chr1:144540964-144540965	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs61801165	chr1:144540971-144540972	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs77482699	chr1:144540991-144540992	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs587695631	chr1:144541084-144541085	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs143289616	chr1:144541100-144541101	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs12041063	chr1:144541195-144541196	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs7534793	chr1:144541298-144541299	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs587757193	chr1:144541331-144541332	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs138858894	chr1:144541362-144541363	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs143775831	chr1:144541379-144541380	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:164)

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
Chronic lymphocytic leukemia	20421269	CNVD
Chronic lymphocytic leukemia	21546498	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
Breast cancer	17142309	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
Williams Syndrome	20824207	CNVD
Tetralogy of Fallot	22912587	CNVD
Autism	18522746	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	20729466	CNVD
Schizophrenia	19197363	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Schizophrenia	23813976	CNVD
Lung adenocarcinoma	21935476	CNVD
idiopathic generalized epilepsy	19843651	CNVD
Schizophrenia	19843651	CNVD
Cancer	17440070	CNVD

Chromatin state (count:157 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:144534400-144540400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr1:144535000-144540000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:144535000-144540200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:144537000-144540000	Enhancers	Fetal Thymus	thymus
5	chr1:144537000-144540200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:144537200-144540200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:144537200-144540200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr1:144537600-144540200	Enhancers	Fetal Heart	heart
9	chr1:144537800-144542600	Weak transcription	Aorta	Aorta
10	chr1:144538000-144540000	Enhancers	HMEC	breast
11	chr1:144538400-144540400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:144538400-144541600	Enhancers	NH-A	brain
13	chr1:144538600-144540000	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr1:144538600-144540000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
15	chr1:144538600-144540000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr1:144538600-144540000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
17	chr1:144538600-144540200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr1:144538800-144540000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
19	chr1:144538800-144540000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:144538800-144540000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
21	chr1:144538800-144540000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr1:144538800-144540000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
23	chr1:144538800-144540000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr1:144538800-144540000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr1:144538800-144540000	Enhancers	Gastric	stomach
26	chr1:144538800-144540000	Enhancers	Psoas Muscle	Psoas
27	chr1:144538800-144540000	Enhancers	Right Atrium	heart
28	chr1:144538800-144540200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr1:144538800-144540200	Bivalent Enhancer	HUVEC	blood vessel
30	chr1:144538800-144541400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr1:144539000-144540000	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr1:144539000-144540200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr1:144539200-144540200	Enhancers	H9 Cell Line	embryonic stem cell
34	chr1:144539200-144540600	Enhancers	Fetal Muscle Trunk	muscle
35	chr1:144539400-144540000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
36	chr1:144539400-144540000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
37	chr1:144539400-144540000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr1:144539400-144540000	Bivalent Enhancer	Esophagus	oesophagus
39	chr1:144539400-144540000	Bivalent Enhancer	Fetal Lung	lung
40	chr1:144539400-144540000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr1:144539400-144540000	Transcr. at gene 5' and 3'	HSMMtube	muscle
42	chr1:144539400-144540200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
43	chr1:144539400-144540200	Transcr. at gene 5' and 3'	HSMM	muscle
44	chr1:144539400-144540400	Bivalent Enhancer	Fetal Muscle Leg	muscle
45	chr1:144539600-144540000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
46	chr1:144539600-144540000	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:144539600-144540000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr1:144539600-144540000	Bivalent Enhancer	Brain Hippocampus Middle	brain
49	chr1:144539600-144540000	Bivalent Enhancer	Placenta	Placenta
50	chr1:144539800-144540000	Enhancers	HUES6 Cell Line	embryonic stem cell

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