Variant report

Variant	nsv946240
Chromosome Location	chr1:144567624-144578785
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:144566036..144568858-chr1:149222714..149224750,2	MCF-7	breast:
2	chr1:144532776..144534883-chr1:144569176..144572167,2	K562	blood:
3	chr1:144569499..144571015-chr1:149221821..149223590,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000206737	chromatin interactions
ENSG00000201699	chromatin interactions

Extended variants
information (count: 263 )
Associated
traits (count: 164 )

Variant overlapped rSNPs/rCNVs (count:263 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587747528	chr1:144567719-144567720	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs498587	chr1:144567730-144567731	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs145517437	chr1:144567792-144567793	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs61802549	chr1:144567796-144567797	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs587679352	chr1:144567808-144567809	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs587734850	chr1:144567809-144567810	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs587630766	chr1:144567849-144567850	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs61802550	chr1:144567866-144567867	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs61802551	chr1:144568013-144568014	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs587726266	chr1:144568155-144568156	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs199574677	chr1:144568212-144568213	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs112890350	chr1:144568237-144568238	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs201689751	chr1:144568260-144568261	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs199872324	chr1:144568459-144568460	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs61803775	chr1:144568535-144568536	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs17161431	chr1:144568672-144568673	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs200203900	chr1:144568679-144568680	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs587679220	chr1:144568692-144568693	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs587774050	chr1:144568743-144568744	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs199731727	chr1:144568744-144568745	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs587713468	chr1:144568786-144568787	Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs189737551	chr1:144568811-144568812	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs1698729	chr1:144568825-144568826	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs587769789	chr1:144568837-144568838	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs76669503	chr1:144568846-144568847	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs587712913	chr1:144568890-144568891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs148837842	chr1:144568904-144568905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs199994487	chr1:144568917-144568918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs375696658	chr1:144568967-144568968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs370067277	chr1:144568986-144568987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs587717910	chr1:144569121-144569122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs143322283	chr1:144569143-144569144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
33	rs61803778	chr1:144569152-144569153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs587677404	chr1:144569166-144569167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs587710321	chr1:144569174-144569175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs61803779	chr1:144569184-144569185	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs587599912	chr1:144569190-144569191	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs61803780	chr1:144569304-144569305	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs587667765	chr1:144569386-144569387	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs2653715	chr1:144569409-144569410	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs58953024	chr1:144569446-144569447	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs139544820	chr1:144569447-144569448	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs57115429	chr1:144569448-144569449	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs587660757	chr1:144569457-144569458	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs587760456	chr1:144569458-144569459	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs201316302	chr1:144569464-144569465	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs368437254	chr1:144569474-144569475	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs9661037	chr1:144569514-144569515	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs201724598	chr1:144569522-144569523	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs373751862	chr1:144569527-144569528	Weak transcription	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:175 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:144567400-144567800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
2	chr1:144567400-144567800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
3	chr1:144567400-144567800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:144567400-144567800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:144567400-144567800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr1:144567400-144567800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:144567400-144567800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
8	chr1:144567400-144567800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr1:144567400-144567800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:144567400-144567800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr1:144567400-144567800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
12	chr1:144567400-144567800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr1:144567400-144567800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr1:144567400-144567800	Enhancers	Fetal Brain Male	brain
15	chr1:144567400-144567800	Enhancers	Fetal Intestine Large	intestine
16	chr1:144567400-144567800	Flanking Active TSS	Fetal Intestine Small	intestine
17	chr1:144567400-144567800	Enhancers	Placenta	Placenta
18	chr1:144567400-144567800	Bivalent Enhancer	Fetal Thymus	thymus
19	chr1:144567400-144567800	Enhancers	Rectal Smooth Muscle	rectum
20	chr1:144567400-144567800	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr1:144567400-144567800	Enhancers	NH-A	brain
22	chr1:144567400-144567800	Enhancers	NHEK	skin
23	chr1:144567400-144568000	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr1:144567400-144568000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr1:144567400-144568000	Active TSS	H9 Cell Line	embryonic stem cell
26	chr1:144567400-144568000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
27	chr1:144567400-144568000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
28	chr1:144567400-144568000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
29	chr1:144567400-144568000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr1:144567400-144568000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr1:144567400-144568000	Enhancers	Primary B cells from peripheral blood	blood
32	chr1:144567400-144568000	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr1:144567400-144568000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr1:144567400-144568000	Active TSS	Brain Germinal Matrix	brain
35	chr1:144567400-144568000	Active TSS	Fetal Brain Female	brain
36	chr1:144567400-144568000	Active TSS	Fetal Kidney	kidney
37	chr1:144567600-144567800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr1:144567600-144567800	Enhancers	Primary hematopoietic stem cells	blood
39	chr1:144567600-144567800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr1:144567600-144567800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr1:144567600-144567800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr1:144567600-144567800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr1:144567600-144567800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:144567600-144567800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:144567600-144567800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:144567600-144567800	Flanking Active TSS	Brain Cingulate Gyrus	brain
47	chr1:144567600-144567800	Flanking Active TSS	Brain Hippocampus Middle	brain
48	chr1:144567600-144567800	Enhancers	Duodenum Mucosa	Duodenum
49	chr1:144567600-144567800	Enhancers	Fetal Muscle Trunk	muscle
50	chr1:144567600-144567800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle

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