Variant report

Variant	esv1795433
Chromosome Location	chr1:144673844-144684633
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	BATF	chr1:144679564-144679880	GM12878	blood:	n/a	n/a
2	BATF	chr1:144679543-144679819	GM12878	blood:	n/a	n/a
3	CEBPB	chr1:144679661-144679667	IMR90	lung:	n/a	n/a
4	EBF1	chr1:144679568-144679842	GM12878	blood:	n/a	n/a
5	FOS	chr1:144679548-144679788	HUVEC	blood vessel:	n/a	chr1:144679715-144679727 chr1:144679643-144679655
6	FOS	chr1:144679638-144679689	MCF10A-Er-Src	breast:	n/a	chr1:144679643-144679655
7	FOXP2	chr1:144674929-144675319	SK-N-MC	brain:	n/a	n/a
8	GATA2	chr1:144680975-144681335	K562	blood:	n/a	n/a
9	GATA2	chr1:144679508-144679804	HUVEC	blood vessel:	n/a	n/a
10	GATA2	chr1:144683602-144684145	K562	blood:	n/a	n/a
11	GATA2	chr1:144677394-144677642	K562	blood:	n/a	n/a
12	IRF4	chr1:144679452-144679963	GM12878	blood:	n/a	n/a
13	MAFK	chr1:144679632-144679684	IMR90	lung:	n/a	chr1:144679638-144679654 chr1:144679650-144679665
14	PAX5	chr1:144674398-144674572	GM12878	blood:	n/a	n/a
15	POLR2A	chr1:144676881-144676903	A549	lung:	n/a	n/a
16	POLR2A	chr1:144674497-144674785	K562	blood:	n/a	n/a
17	POLR2A	chr1:144675886-144676238	SK-N-MC	brain:	n/a	n/a
18	POLR2A	chr1:144675291-144675622	K562	blood:	n/a	n/a
19	POLR2A	chr1:144675247-144675645	SK-N-MC	brain:	n/a	n/a
20	POLR2A	chr1:144675970-144676274	K562	blood:	n/a	n/a
21	POLR2A	chr1:144676649-144677129	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr1:144674877-144675752	SK-N-MC	brain:	n/a	n/a
23	POLR2A	chr1:144681168-144681644	U87	brain:	n/a	n/a
24	POLR2A	chr1:144679502-144679774	HUVEC	blood vessel:	n/a	n/a
25	POU2F2	chr1:144683262-144683618	GM12878	blood:	n/a	n/a
26	POU2F2	chr1:144679496-144679971	GM12878	blood:	n/a	chr1:144679584-144679599 chr1:144679585-144679599 chr1:144679586-144679596 chr1:144679585-144679597 chr1:144679587-144679596 chr1:144679586-144679596 chr1:144679588-144679595 chr1:144679742-144679763
27	POU2F2	chr1:144679649-144679815	GM12878	blood:	n/a	chr1:144679742-144679763
28	SPI1	chr1:144679545-144679950	GM12878	blood:	n/a	chr1:144679764-144679773
29	SPI1	chr1:144679654-144679881	GM12878	blood:	n/a	chr1:144679764-144679773
30	SPI1	chr1:144679492-144680030	GM12891	blood:	n/a	chr1:144679764-144679773
31	SPI1	chr1:144679545-144679971	GM12891	blood:	n/a	chr1:144679764-144679773
32	SPI1	chr1:144679338-144680082	GM12878	blood:	n/a	chr1:144679764-144679773

Variant related genes	Relation type
ENSG00000215861	TF binding region

Extended variants
information (count: 473 )
Associated
traits (count: 164 )

Variant overlapped rSNPs/rCNVs (count:473 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587726348	chr1:144673860-144673861	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs587632120	chr1:144673861-144673862	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs386438715	chr1:144673877-144673878	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs114706810	chr1:144673901-144673902	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190915950	chr1:144673920-144673921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370890343	chr1:144673932-144673933	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs587641761	chr1:144673945-144673946	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs61810921	chr1:144673948-144673949	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs137864233	chr1:144673949-144673950	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs61810922	chr1:144673970-144673971	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs61810923	chr1:144674011-144674012	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs587723708	chr1:144674032-144674033	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs61810924	chr1:144674065-144674066	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113920914	chr1:144674078-144674079	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs587759140	chr1:144674101-144674102	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs587641270	chr1:144674109-144674110	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs587680237	chr1:144674110-144674111	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs61810925	chr1:144674137-144674138	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372411586	chr1:144674145-144674146	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs587758551	chr1:144674146-144674147	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111367058	chr1:144674151-144674152	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs587638499	chr1:144674153-144674154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs61810926	chr1:144674156-144674157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs587720351	chr1:144674174-144674175	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs587597354	chr1:144674188-144674189	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs587653000	chr1:144674210-144674211	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs587710031	chr1:144674248-144674249	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370224421	chr1:144674293-144674294	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs61810927	chr1:144674294-144674295	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs61810928	chr1:144674371-144674372	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs61810929	chr1:144674383-144674384	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs61810930	chr1:144674391-144674392	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs75797395	chr1:144674441-144674442	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113989448	chr1:144674444-144674445	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs587600802	chr1:144674448-144674449	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75957772	chr1:144674491-144674492	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199532503	chr1:144674496-144674497	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs587669691	chr1:144674505-144674506	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200708001	chr1:144674513-144674514	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375674020	chr1:144674515-144674516	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs587735053	chr1:144674534-144674535	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs587605538	chr1:144674536-144674537	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs587686919	chr1:144674553-144674554	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs587768227	chr1:144674585-144674586	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs386577250	chr1:144674593-144674594	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs587643601	chr1:144674631-144674632	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs587723651	chr1:144674639-144674640	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs61810931	chr1:144674658-144674659	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs587721821	chr1:144674693-144674694	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs587625741	chr1:144674694-144674695	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	n/a	n/a	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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:159 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:144671600-144674600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr1:144672600-144676200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr1:144672600-144691600	Weak transcription	Left Ventricle	heart
4	chr1:144672800-144674000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr1:144672800-144674000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr1:144672800-144674400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:144672800-144674400	Weak transcription	K562	blood
8	chr1:144673200-144675400	Weak transcription	Placenta	Placenta
9	chr1:144673200-144679400	Weak transcription	Liver	Liver
10	chr1:144673200-144679600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:144673400-144681600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr1:144673600-144675400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr1:144673600-144675400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr1:144673800-144676400	Strong transcription	HSMMtube	muscle
15	chr1:144673800-144677200	Weak transcription	Brain Germinal Matrix	brain
16	chr1:144674000-144674600	Weak transcription	Brain Anterior Caudate	brain
17	chr1:144674000-144675600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr1:144674000-144676400	Strong transcription	Skeletal Muscle Female	skeletal muscle
19	chr1:144674000-144676800	Strong transcription	Skeletal Muscle Male	skeletal muscle
20	chr1:144674000-144685600	Weak transcription	Brain Hippocampus Middle	brain
21	chr1:144674000-144691600	Weak transcription	Fetal Muscle Leg	muscle
22	chr1:144674200-144674400	Enhancers	Psoas Muscle	Psoas
23	chr1:144674200-144674600	Weak transcription	Fetal Heart	heart
24	chr1:144674200-144674600	Weak transcription	HSMM	muscle
25	chr1:144674200-144689600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:144674400-144674600	Weak transcription	Brain Angular Gyrus	brain
27	chr1:144674400-144674600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr1:144674400-144674800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:144674400-144675600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:144674400-144676200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr1:144674400-144676600	Strong transcription	K562	blood
32	chr1:144674400-144679400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr1:144674400-144687600	Weak transcription	Psoas Muscle	Psoas
34	chr1:144674600-144674800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr1:144674600-144674800	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr1:144674600-144674800	Enhancers	Brain Angular Gyrus	brain
37	chr1:144674600-144674800	Genic enhancers	Brain Anterior Caudate	brain
38	chr1:144674600-144674800	Enhancers	Brain Cingulate Gyrus	brain
39	chr1:144674600-144674800	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr1:144674600-144674800	Enhancers	Fetal Heart	heart
41	chr1:144674600-144674800	Enhancers	Rectal Smooth Muscle	rectum
42	chr1:144674600-144674800	Enhancers	Right Ventricle	heart
43	chr1:144674600-144674800	Enhancers	Stomach Smooth Muscle	stomach
44	chr1:144674600-144674800	Enhancers	HSMM	muscle
45	chr1:144674600-144674800	Enhancers	NHDF-Ad	bronchial
46	chr1:144674600-144674800	Enhancers	Osteobl	bone
47	chr1:144674600-144675000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:144674600-144676200	Enhancers	Colon Smooth Muscle	Colon
49	chr1:144674600-144676800	Weak transcription	Fetal Brain Female	brain
50	chr1:144674600-144679600	Weak transcription	Duodenum Mucosa	Duodenum

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