Variant report

Variant	esv2191629
Chromosome Location	chr1:144901046-144907005
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	JUND	chr1:144905752-144905899	HepG2	liver:	n/a	chr1:144905878-144905889
2	POLR2A	chr1:144900873-144901215	K562	blood:	n/a	n/a
3	POLR2A	chr1:144901256-144901299	ProgFib	skin:	n/a	n/a
4	POLR2A	chr1:144902731-144902786	ProgFib	skin:	n/a	n/a
5	POLR2A	chr1:144906435-144906464	ProgFib	skin:	n/a	n/a
6	POLR2A	chr1:144901409-144901552	ProgFib	skin:	n/a	n/a
7	STAT3	chr1:144902208-144902233	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:144895504..144897115-chr1:144905432..144907751,3	K562	blood:
2	chr1:144895702..144897735-chr1:144904870..144906981,2	MCF-7	breast:
3	chr1:144895341..144897404-chr1:144905462..144906982,2	MCF-7	breast:
4	chr1:144906087..144908086-chr1:144911253..144912912,2	K562	blood:
5	chr1:144894819..144897241-chr1:144898698..144901682,2	K562	blood:

Variant related genes	Relation type
PDE4DIP	TF binding region

Extended variants
information (count: 188 )
Associated
traits (count: 165 )

Variant overlapped rSNPs/rCNVs (count:188 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs61809699	chr1:144901139-144901140	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75259115	chr1:144901146-144901147	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs587688549	chr1:144901170-144901171	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187664238	chr1:144901171-144901172	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147681965	chr1:144901240-144901241	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs587697657	chr1:144901270-144901271	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190696394	chr1:144901282-144901283	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs35124580	chr1:144901311-144901312	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs587614292	chr1:144901320-144901321	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs587695750	chr1:144901321-144901322	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34079128	chr1:144901336-144901337	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs587753689	chr1:144901399-144901400	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181030908	chr1:144901449-144901450	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs587698537	chr1:144901546-144901547	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185143661	chr1:144901576-144901577	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142420495	chr1:144901580-144901581	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs587703484	chr1:144901630-144901631	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143574058	chr1:144901634-144901635	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs587713425	chr1:144901666-144901667	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs587658379	chr1:144901676-144901677	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369880063	chr1:144901691-144901692	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112950345	chr1:144901736-144901737	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74781701	chr1:144901775-144901776	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2312707	chr1:144901818-144901819	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs17842349	chr1:144901820-144901821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2872112	chr1:144901854-144901855	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138536930	chr1:144901871-144901872	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs17346765	chr1:144901893-144901894	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
29	rs3082955	chr1:144901894-144901895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs587726935	chr1:144901900-144901901	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs587600350	chr1:144901902-144901903	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2872111	chr1:144901925-144901926	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2872110	chr1:144901926-144901927	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs190001540	chr1:144901951-144901952	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs34341576	chr1:144901955-144901956	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs182544115	chr1:144902040-144902041	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs3082946	chr1:144902056-144902057	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187241981	chr1:144902127-144902128	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs587746817	chr1:144902150-144902151	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs587620234	chr1:144902191-144902192	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs587693262	chr1:144902208-144902209	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs587753295	chr1:144902241-144902242	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs587645236	chr1:144902295-144902296	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs587684124	chr1:144902421-144902422	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192060185	chr1:144902443-144902444	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs587658141	chr1:144902472-144902473	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183874236	chr1:144902506-144902507	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs587770714	chr1:144902538-144902539	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189184510	chr1:144902622-144902623	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs587646612	chr1:144902632-144902633	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:165)

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
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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Autism	20531469	CNVD

Chromatin state (count:308 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:144852200-144913200	Weak transcription	Stomach Mucosa	stomach
2	chr1:144869400-144905000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr1:144874600-144901600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr1:144874800-144906600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr1:144875000-144911000	Weak transcription	Thymus	Thymus
6	chr1:144877400-144902200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:144881400-144904800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr1:144883000-144902600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr1:144883000-144902800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:144883000-144911600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:144883200-144902600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:144887200-144904400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:144887800-144902600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr1:144888000-144902000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr1:144888000-144902400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr1:144888000-144902800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr1:144888000-144908800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr1:144888200-144903800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr1:144888200-144914400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr1:144892600-144902800	Weak transcription	Ovary	ovary
21	chr1:144892600-144903000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:144892600-144903000	Weak transcription	Small Intestine	intestine
23	chr1:144892600-144903200	Weak transcription	Gastric	stomach
24	chr1:144892800-144902400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr1:144892800-144902600	Weak transcription	Colon Smooth Muscle	Colon
26	chr1:144892800-144902800	Weak transcription	Fetal Lung	lung
27	chr1:144892800-144905000	Weak transcription	Fetal Brain Male	brain
28	chr1:144892800-144907400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:144893000-144902800	Weak transcription	Spleen	Spleen
30	chr1:144893200-144901400	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr1:144893400-144901400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr1:144893400-144902400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr1:144893400-144902600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr1:144893400-144902600	Weak transcription	Psoas Muscle	Psoas
35	chr1:144893400-144902800	Weak transcription	Lung	lung
36	chr1:144893400-144904800	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr1:144893400-144906800	Weak transcription	Pancreas	Pancrea
38	chr1:144893600-144902600	Weak transcription	Colonic Mucosa	Colon
39	chr1:144893800-144901200	Weak transcription	Fetal Intestine Large	intestine
40	chr1:144894000-144901200	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr1:144894000-144901200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:144894000-144901200	Weak transcription	Fetal Brain Female	brain
43	chr1:144894000-144901200	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr1:144894000-144901400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:144894000-144901600	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr1:144894000-144902000	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr1:144894000-144902200	Weak transcription	Stomach Smooth Muscle	stomach
48	chr1:144894000-144902600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr1:144894000-144902600	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr1:144894000-144902600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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