Variant report

Variant	esv2605621
Chromosome Location	chr1:150046106-150047644
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:150044656-150046137	A549	lung:	n/a	chr1:150045229-150045250
2	FAM48A	chr1:150046736-150046773	GM12878	blood:	n/a	n/a
3	GATA3	chr1:150047368-150047462	SH-SY5Y	brain:	n/a	n/a
4	POLR2A	chr1:150047070-150047179	ProgFib	skin:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150044299..150047300-chr1:150141169..150143269,3	MCF-7	breast:
2	chr1:150039399..150044958-chr1:150046678..150048939,7	K562	blood:
3	chr1:150035483..150047454-chr1:150129931..150138567,28	MCF-7	breast:
4	chr1:150045133..150046720-chr1:150047065..150048856,2	MCF-7	breast:
5	chr1:150043719..150046734-chr1:150113127..150116158,3	MCF-7	breast:
6	chr1:150043953..150046600-chr1:150048139..150050720,2	K562	blood:
7	chr1:149858840..149861713-chr1:150044592..150047147,2	MCF-7	breast:
8	chr1:149898320..149901197-chr1:150045143..150046791,2	MCF-7	breast:
9	chr1:150038609..150041088-chr1:150047588..150050887,5	MCF-7	breast:
10	chr1:150046481..150048286-chr1:150058057..150060718,2	K562	blood:
11	chr1:150045026..150046248-chr1:150134083..150135043,5	MCF-7	breast:
12	chr1:150032474..150034283-chr1:150044859..150046740,2	K562	blood:
13	chr1:150038983..150041057-chr1:150046382..150049857,3	MCF-7	breast:
14	chr1:150045133..150046720-chr1:150047065..150048856,2	MCF-7	breast:
15	chr1:150044965..150047387-chr1:150136766..150139842,3	MCF-7	breast:
16	chr1:149982418..149984722-chr1:150044513..150046675,2	K562	blood:
17	chr1:150040162..150042986-chr1:150044967..150046584,2	K562	blood:

No data

Variant related genes	Relation type
VPS45	TF binding region
ENSG00000136631	chromatin interactions
ENSG00000023902	chromatin interactions
ENSG00000163113	chromatin interactions
ENSG00000184270	chromatin interactions
ENSG00000143368	chromatin interactions
ENSG00000178096	chromatin interactions

Extended variants
information (count: 47 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112287706	chr1:150046132-150046133	Weak transcription Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs141520524	chr1:150046137-150046138	Weak transcription Strong transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs587611712	chr1:150046143-150046144	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs587673893	chr1:150046179-150046180	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs587728122	chr1:150046189-150046190	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs587630119	chr1:150046195-150046196	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs587709387	chr1:150046200-150046201	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs12085962	chr1:150046202-150046203	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs587641921	chr1:150046210-150046211	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs147848364	chr1:150046242-150046243	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs201769442	chr1:150046260-150046261	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs367643488	chr1:150046269-150046270	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs188502763	chr1:150046302-150046303	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs587629196	chr1:150046336-150046337	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs181762316	chr1:150046394-150046395	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs186021221	chr1:150046431-150046432	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs587649041	chr1:150046496-150046497	Weak transcription Strong transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs587708349	chr1:150046707-150046708	Weak transcription Strong transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs112711718	chr1:150046818-150046819	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs587665070	chr1:150046901-150046902	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs587714003	chr1:150046946-150046947	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs587600824	chr1:150046962-150046963	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs182464305	chr1:150046969-150046970	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs4926406	chr1:150046970-150046971	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs12758105	chr1:150046983-150046984	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs12727216	chr1:150046985-150046986	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs375721104	chr1:150047023-150047024	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs371494391	chr1:150047026-150047027	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs144535508	chr1:150047054-150047055	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs72692893	chr1:150047119-150047120	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs187041752	chr1:150047191-150047192	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs150106753	chr1:150047208-150047209	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs12044307	chr1:150047209-150047210	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs587629363	chr1:150047211-150047212	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs59860456	chr1:150047217-150047218	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs60124736	chr1:150047249-150047250	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs139339956	chr1:150047264-150047265	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs587643775	chr1:150047356-150047357	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs12039446	chr1:150047362-150047363	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs191061353	chr1:150047402-150047403	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs587702344	chr1:150047407-150047408	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs587734203	chr1:150047470-150047471	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs55989593	chr1:150047510-150047511	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs587689386	chr1:150047559-150047560	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs148893031	chr1:150047603-150047604	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs182354988	chr1:150047618-150047619	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs587651127	chr1:150047627-150047628	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:115)

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	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
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
Breast cancer	21364760	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
Breast cancer	22522925	CNVD

Chromatin state (count:171 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150040000-150050200	Weak transcription	Spleen	Spleen
2	chr1:150040200-150090800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:150040400-150046200	Weak transcription	Fetal Thymus	thymus
4	chr1:150040400-150047800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:150040400-150047800	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr1:150040400-150047800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:150040400-150049800	Weak transcription	Ovary	ovary
8	chr1:150040400-150049800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:150040400-150050000	Weak transcription	Lung	lung
10	chr1:150040400-150056400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:150040400-150061600	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr1:150040400-150078800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:150040400-150082800	Weak transcription	Small Intestine	intestine
14	chr1:150040400-150086800	Weak transcription	Esophagus	oesophagus
15	chr1:150040400-150121400	Weak transcription	Pancreas	Pancrea
16	chr1:150040600-150046200	Weak transcription	Colonic Mucosa	Colon
17	chr1:150040600-150048200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr1:150040600-150072200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr1:150040600-150092000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr1:150040800-150048400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr1:150040800-150048800	Weak transcription	Primary B cells from cord blood	blood
22	chr1:150040800-150049000	Weak transcription	Primary T cells from cord blood	blood
23	chr1:150040800-150049800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr1:150040800-150049800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:150040800-150049800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr1:150040800-150054400	Weak transcription	Aorta	Aorta
27	chr1:150041000-150047400	Strong transcription	Placenta	Placenta
28	chr1:150041000-150047600	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr1:150041000-150048200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr1:150041000-150048200	Weak transcription	Fetal Brain Female	brain
31	chr1:150041000-150048800	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr1:150041000-150049200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr1:150041000-150049800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr1:150041000-150049800	Weak transcription	Thymus	Thymus
35	chr1:150041000-150049800	Weak transcription	HSMMtube	muscle
36	chr1:150041000-150053600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr1:150041000-150064000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr1:150041000-150114400	Weak transcription	Right Ventricle	heart
39	chr1:150041200-150046600	Weak transcription	Fetal Intestine Large	intestine
40	chr1:150041200-150048800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:150041200-150049200	Weak transcription	HepG2	liver
42	chr1:150041200-150049800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr1:150041200-150054800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr1:150041400-150047400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr1:150041400-150048600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr1:150041400-150048800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr1:150041400-150049200	Weak transcription	Brain Cingulate Gyrus	brain
48	chr1:150041400-150049200	Weak transcription	Brain Substantia Nigra	brain
49	chr1:150041400-150049200	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr1:150041400-150049200	Weak transcription	NHLF	lung

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