Variant report

Variant	esv3341385
Chromosome Location	chr1:147124821-147125386
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:147125293-147125390	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:147125294..147131165-chr1:147136519..147143336,11	MCF-7	breast:

Variant related genes	Relation type
ACP6	TF binding region
ENSG00000162836	chromatin interactions

Extended variants
information (count: 28 )
Associated
traits (count: 141 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587741420	chr1:147124825-147124826	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs587610255	chr1:147124876-147124877	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs587694310	chr1:147124885-147124886	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs587728862	chr1:147124925-147124926	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs112251895	chr1:147124926-147124927	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144983434	chr1:147124927-147124928	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs587681874	chr1:147124939-147124940	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs587771385	chr1:147124943-147124944	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs587623872	chr1:147124944-147124945	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs36135993	chr1:147124945-147124946	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs28700004	chr1:147124960-147124961	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs193231485	chr1:147125000-147125001	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs587649264	chr1:147125008-147125009	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs71485826	chr1:147125034-147125035	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs9660259	chr1:147125035-147125036	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs58826432	chr1:147125040-147125041	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs587729480	chr1:147125157-147125158	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs587602859	chr1:147125162-147125163	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs376800878	chr1:147125230-147125231	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs9662990	chr1:147125232-147125233	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs4950465	chr1:147125235-147125236	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs587596208	chr1:147125264-147125265	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs587671269	chr1:147125272-147125273	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184482791	chr1:147125312-147125313	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs59244475	chr1:147125313-147125314	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs587669521	chr1:147125322-147125323	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs587747208	chr1:147125325-147125326	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs587614854	chr1:147125384-147125385	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:141)

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
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
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
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:147097600-147130000	Weak transcription	Stomach Mucosa	stomach
2	chr1:147111000-147128400	Weak transcription	HUVEC	blood vessel
3	chr1:147113000-147136200	Weak transcription	NH-A	brain
4	chr1:147113000-147141400	Weak transcription	Fetal Brain Male	brain
5	chr1:147113200-147130800	Weak transcription	NHEK	skin
6	chr1:147113800-147126200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr1:147114000-147141000	Weak transcription	Osteobl	bone
8	chr1:147114200-147133800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr1:147117200-147131800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:147117800-147130400	Weak transcription	NHLF	lung
11	chr1:147118000-147133800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:147118200-147136600	Weak transcription	HSMM	muscle
13	chr1:147118400-147125800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:147118600-147127600	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr1:147118600-147130400	Weak transcription	GM12878-XiMat	blood
16	chr1:147118800-147136600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr1:147119000-147128200	Strong transcription	Fetal Intestine Small	intestine
18	chr1:147119000-147131800	Weak transcription	Fetal Heart	heart
19	chr1:147119000-147132000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:147119000-147132200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:147119400-147127400	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr1:147119600-147131600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr1:147120000-147141400	Weak transcription	Fetal Thymus	thymus
24	chr1:147121200-147128600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr1:147121200-147130600	Weak transcription	Brain Cingulate Gyrus	brain
26	chr1:147121400-147126000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr1:147121400-147127600	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr1:147121400-147128200	Strong transcription	Primary T cells from cord blood	blood
29	chr1:147121400-147130600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr1:147122000-147127400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr1:147122000-147141400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:147122200-147126000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr1:147122400-147132800	Weak transcription	Brain Germinal Matrix	brain
34	chr1:147122400-147141600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr1:147123800-147125600	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr1:147123800-147126600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr1:147124000-147130400	Weak transcription	Primary B cells from cord blood	blood
38	chr1:147124200-147126800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr1:147124200-147127800	Enhancers	Placenta	Placenta
40	chr1:147124200-147130200	Weak transcription	HSMMtube	muscle
41	chr1:147124200-147140200	Weak transcription	Fetal Kidney	kidney
42	chr1:147124200-147140200	Weak transcription	HMEC	breast
43	chr1:147124200-147141200	Weak transcription	Psoas Muscle	Psoas
44	chr1:147124400-147125600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:147124400-147125600	Weak transcription	Colonic Mucosa	Colon
46	chr1:147124400-147125600	Weak transcription	Hela-S3	cervix
47	chr1:147124400-147125800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr1:147124400-147125800	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr1:147124400-147125800	Weak transcription	Rectal Smooth Muscle	rectum
50	chr1:147124400-147126000	Weak transcription	H9 Cell Line	embryonic stem cell

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