Variant report

Variant	esv3372156
Chromosome Location	chr1:150715228-150718076
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	chr1:150716385..150719781-chr1:150720227..150722599,4	K562	blood:

Variant related genes	Relation type
ENSG00000163131	chromatin interactions

Extended variants
information (count: 89 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74127011	chr1:150715232-150715233	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs587597384	chr1:150715345-150715346	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs587675578	chr1:150715348-150715349	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs587732610	chr1:150715359-150715360	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs587625881	chr1:150715379-150715380	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144530316	chr1:150715394-150715395	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185019473	chr1:150715413-150715414	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34657841	chr1:150715422-150715423	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147838957	chr1:150715452-150715453	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs587711364	chr1:150715495-150715496	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs587775798	chr1:150715549-150715550	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374918810	chr1:150715585-150715586	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189483399	chr1:150715633-150715634	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369273299	chr1:150715634-150715635	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs587748836	chr1:150715636-150715637	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs587654644	chr1:150715655-150715656	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113650982	chr1:150715668-150715669	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs587756861	chr1:150715757-150715758	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12089989	chr1:150715782-150715783	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs587640628	chr1:150715788-150715789	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs587720576	chr1:150715870-150715871	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs587599981	chr1:150715873-150715874	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372070051	chr1:150715973-150715974	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10609824	chr1:150715984-150715985	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs367882114	chr1:150715993-150715994	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs61403743	chr1:150715995-150715996	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372619659	chr1:150715997-150715998	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs28438913	chr1:150716015-150716016	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs28452788	chr1:150716022-150716023	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373568087	chr1:150716037-150716038	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184494958	chr1:150716045-150716046	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28701566	chr1:150716055-150716056	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs28612144	chr1:150716061-150716062	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367686639	chr1:150716086-150716087	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10693745	chr1:150716088-150716089	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs59015432	chr1:150716093-150716094	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188913923	chr1:150716094-150716095	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375911694	chr1:150716113-150716114	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71086595	chr1:150716116-150716117	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12755647	chr1:150716117-150716118	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs58147441	chr1:150716124-150716125	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71086596	chr1:150716147-150716148	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs587694858	chr1:150716183-150716184	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372194444	chr1:150716255-150716256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs374619910	chr1:150716293-150716294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs368242679	chr1:150716614-150716615	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs181935229	chr1:150716617-150716618	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs56395151	chr1:150716802-150716803	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs375204811	chr1:150716878-150716879	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs111214353	chr1:150716906-150716907	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:113)

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
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
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
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
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Cancer	23975201	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150701400-150727400	Weak transcription	Left Ventricle	heart
2	chr1:150702400-150716200	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr1:150702600-150715800	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr1:150702600-150716200	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr1:150702600-150716200	Strong transcription	Primary B cells from cord blood	blood
6	chr1:150702600-150716200	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr1:150702800-150716200	Strong transcription	Primary B cells from peripheral blood	blood
8	chr1:150703800-150717200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr1:150704000-150715800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr1:150704000-150716200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:150704000-150716200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:150704000-150736600	Weak transcription	Fetal Stomach	stomach
13	chr1:150704200-150716200	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr1:150704400-150716200	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr1:150704400-150716200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr1:150704400-150716200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:150704400-150716200	Strong transcription	Duodenum Mucosa	Duodenum
18	chr1:150704400-150716200	Strong transcription	Rectal Mucosa Donor 31	rectum
19	chr1:150704600-150715800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr1:150704600-150717400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:150705400-150723800	Weak transcription	Gastric	stomach
22	chr1:150705600-150723800	Weak transcription	Thymus	Thymus
23	chr1:150707000-150716200	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr1:150707200-150715800	Strong transcription	Primary T cells from cord blood	blood
25	chr1:150707600-150715800	Strong transcription	Liver	Liver
26	chr1:150708400-150733000	Weak transcription	Fetal Intestine Large	intestine
27	chr1:150709000-150719000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr1:150709000-150723800	Weak transcription	Esophagus	oesophagus
29	chr1:150709000-150727400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr1:150709800-150715800	Strong transcription	GM12878-XiMat	blood
31	chr1:150710000-150715800	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr1:150710200-150729200	Weak transcription	Psoas Muscle	Psoas
33	chr1:150711000-150735600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr1:150711400-150717200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr1:150712000-150737800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr1:150713200-150715400	Weak transcription	Primary hematopoietic stem cells	blood
37	chr1:150713400-150718800	Weak transcription	Adipose Nuclei	Adipose
38	chr1:150713400-150719200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr1:150713600-150717200	Weak transcription	Colonic Mucosa	Colon
40	chr1:150713600-150717400	Weak transcription	Lung	lung
41	chr1:150713600-150717400	Weak transcription	Spleen	Spleen
42	chr1:150714000-150717200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr1:150714600-150716200	Strong transcription	Fetal Thymus	thymus
44	chr1:150714600-150723800	Weak transcription	Fetal Intestine Small	intestine
45	chr1:150714800-150715800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr1:150714800-150732200	Weak transcription	Stomach Mucosa	stomach
47	chr1:150715000-150715800	Strong transcription	Primary T killer memory cells from peripheral blood	blood
48	chr1:150715000-150717400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr1:150715200-150715800	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr1:150715200-150715800	Strong transcription	Small Intestine	intestine

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