Variant report

Variant	nsv547844
Chromosome Location	chr1:150857555-150862767
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	chr1:150862405-150862637	GM12878	blood:	n/a	n/a
2	EGR1	chr1:150859517-150859780	K562	blood:	n/a	chr1:150859638-150859648 chr1:150859636-150859650 chr1:150859638-150859648
3	EGR1	chr1:150859449-150859816	K562	blood:	n/a	chr1:150859638-150859648 chr1:150859636-150859650 chr1:150859638-150859648
4	EP300	chr1:150862452-150862841	GM12878	blood:	n/a	n/a
5	EP300	chr1:150862548-150862828	GM12878	blood:	n/a	n/a
6	FOS	chr1:150859603-150859810	MCF10A-Er-Src	breast:	n/a	n/a
7	IKZF1	chr1:150862449-150862900	GM12878	blood:	n/a	n/a
8	MEF2A	chr1:150862326-150862931	GM12878	blood:	n/a	n/a
9	MEF2A	chr1:150862508-150862942	GM12878	blood:	n/a	n/a
10	MEF2C	chr1:150862394-150862921	GM12878	blood:	n/a	n/a
11	MXI1	chr1:150862623-150862906	GM12878	blood:	n/a	n/a
12	MYC	chr1:150859578-150859922	MCF10A-Er-Src	breast:	n/a	n/a
13	NFIC	chr1:150862380-150862899	GM12878	blood:	n/a	n/a
14	RUNX3	chr1:150862335-150862904	GM12878	blood:	n/a	n/a
15	RUNX3	chr1:150862299-150862903	GM12878	blood:	n/a	n/a
16	SP1	chr1:150862426-150862852	GM12878	blood:	n/a	n/a
17	TBL1XR1	chr1:150862580-150862796	GM12878	blood:	n/a	n/a
18	TEAD4	chr1:150859648-150859931	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:150859611..150863685-chr1:150866729..150869931,3	K562	blood:
2	chr1:150848386..150850942-chr1:150853921..150858032,4	K562	blood:
3	chr1:150848583..150851950-chr1:150857256..150860143,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224800	TF binding region
ENSG00000212512	TF binding region
ENSG00000143437	chromatin interactions

Extended variants
information (count: 151 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:151 , 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	rs12124031	chr1:150857555-150857556	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186221379	chr1:150857558-150857559	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs12124754	chr1:150857664-150857665	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs587710874	chr1:150857696-150857697	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs587605405	chr1:150857707-150857708	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs587664901	chr1:150857749-150857750	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs11810959	chr1:150857821-150857822	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs61350161	chr1:150857844-150857845	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs55772390	chr1:150857846-150857847	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs11810965	chr1:150857848-150857849	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs12144276	chr1:150857850-150857851	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs59665266	chr1:150857852-150857853	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs58030153	chr1:150858074-150858075	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs12727821	chr1:150858141-150858142	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs587764605	chr1:150858151-150858152	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs587643662	chr1:150858168-150858169	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs587699220	chr1:150858196-150858197	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs59703669	chr1:150858213-150858214	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs371770576	chr1:150858245-150858246	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs587627738	chr1:150858285-150858286	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs189904627	chr1:150858288-150858289	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs587761181	chr1:150858308-150858309	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs12752087	chr1:150858331-150858332	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs587599557	chr1:150858334-150858335	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs12752094	chr1:150858335-150858336	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs61101382	chr1:150858353-150858354	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs34513940	chr1:150858360-150858361	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs34119772	chr1:150858388-150858389	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs587696905	chr1:150858416-150858417	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs587608501	chr1:150858469-150858470	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs182216236	chr1:150858535-150858536	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs12404199	chr1:150858571-150858572	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs144580878	chr1:150858601-150858602	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs587708019	chr1:150858633-150858634	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs78730678	chr1:150858642-150858643	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs587752401	chr1:150858677-150858678	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs186492010	chr1:150858707-150858708	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs587654503	chr1:150858771-150858772	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs587705456	chr1:150858822-150858823	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs587609030	chr1:150858882-150858883	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs587661924	chr1:150858895-150858896	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs587746160	chr1:150858903-150858904	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs192733865	chr1:150858907-150858908	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs587699093	chr1:150858931-150858932	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs148311170	chr1:150858949-150858950	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs35683328	chr1:150858988-150858989	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs10690526	chr1:150858989-150858990	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs142613132	chr1:150859038-150859039	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs75067938	chr1:150859040-150859041	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs587732413	chr1:150859187-150859188	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:114)

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
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Gastrointestinal cancer	16790693	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150854000-150862200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:150854600-150859600	Weak transcription	HMEC	breast
3	chr1:150854600-150862600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:150854800-150859000	Weak transcription	Hela-S3	cervix
5	chr1:150855200-150859000	Weak transcription	Osteobl	bone
6	chr1:150855200-150859400	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr1:150855400-150859600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:150855600-150858400	Weak transcription	Placenta	Placenta
9	chr1:150856400-150859600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:150856800-150861800	Weak transcription	GM12878-XiMat	blood
11	chr1:150858400-150860200	Enhancers	Placenta	Placenta
12	chr1:150859000-150859800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:150859000-150859800	Enhancers	Hela-S3	cervix
14	chr1:150859000-150860000	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr1:150859000-150860000	Enhancers	Osteobl	bone
16	chr1:150859400-150860000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr1:150859600-150859800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr1:150859600-150859800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:150859600-150859800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:150859600-150860200	Enhancers	HMEC	breast
21	chr1:150859600-150860400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr1:150859800-150867800	Weak transcription	Hela-S3	cervix
23	chr1:150860200-150863600	Weak transcription	Placenta	Placenta
24	chr1:150861200-150863800	Enhancers	Primary B cells from peripheral blood	blood
25	chr1:150861400-150863800	Enhancers	Primary B cells from cord blood	blood
26	chr1:150861600-150862200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr1:150861600-150864400	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr1:150861800-150862000	Enhancers	GM12878-XiMat	blood
29	chr1:150861800-150862200	Enhancers	Primary T cells from cord blood	blood
30	chr1:150861800-150863400	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr1:150861800-150863400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr1:150861800-150863600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr1:150862000-150862200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr1:150862000-150862400	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr1:150862000-150862600	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr1:150862000-150862800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr1:150862000-150862800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr1:150862000-150863000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr1:150862000-150863000	Enhancers	Dnd41	blood
40	chr1:150862000-150863000	Flanking Active TSS	GM12878-XiMat	blood
41	chr1:150862000-150863200	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr1:150862000-150863400	Enhancers	Primary hematopoietic stem cells	blood
43	chr1:150862000-150863400	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr1:150862000-150863400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:150862000-150863400	Enhancers	Fetal Thymus	thymus
46	chr1:150862000-150863600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:150862200-150862400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr1:150862200-150862600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
49	chr1:150862200-150863000	Flanking Active TSS	Primary T cells from cord blood	blood
50	chr1:150862200-150863000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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