Variant report

Variant	nsv528859
Chromosome Location	chr1:150673684-150675483
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	CTCF	chr1:150674956-150674979	GM10248	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:150672673..150675324-chr1:150676637..150678852,2	K562	blood:
2	chr1:150549499..150551723-chr1:150674236..150676416,2	K562	blood:

Variant related genes	Relation type
GOLPH3L	TF binding region
RNU6-1042P	TF binding region
ENSG00000143452	chromatin interactions
ENSG00000143384	chromatin interactions

Extended variants
information (count: 33 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4970926	chr1:150673684-150673685	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs190295422	chr1:150673713-150673714	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs148155671	chr1:150673805-150673806	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs112532178	chr1:150673881-150673882	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs2867298	chr1:150674027-150674028	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs12063547	chr1:150674053-150674054	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs115822541	chr1:150674147-150674148	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs141946426	chr1:150674161-150674162	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs587611264	chr1:150674281-150674282	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs146851583	chr1:150674320-150674321	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs587746859	chr1:150674326-150674327	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs12077833	chr1:150674333-150674334	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs181074303	chr1:150674342-150674343	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs587728095	chr1:150674378-150674379	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs587617723	chr1:150674413-150674414	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs587691544	chr1:150674502-150674503	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs587771197	chr1:150674537-150674538	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs587647923	chr1:150674624-150674625	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs139228116	chr1:150674641-150674642	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs113023720	chr1:150674694-150674695	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs587628952	chr1:150674695-150674696	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs587715005	chr1:150674759-150674760	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs1977714	chr1:150674938-150674939	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs66958685	chr1:150675007-150675008	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs587714168	chr1:150675042-150675043	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs1977715	chr1:150675147-150675148	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs113471439	chr1:150675252-150675253	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs1977716	chr1:150675253-150675254	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs369329218	chr1:150675320-150675321	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs587724508	chr1:150675322-150675323	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs587599090	chr1:150675357-150675358	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs587669867	chr1:150675399-150675400	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs2184833	chr1:150675483-150675484	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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	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
Gastrointestinal cancer	16790693	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150670400-150675400	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr1:150670600-150675400	Weak transcription	GM12878-XiMat	blood
3	chr1:150670600-150677400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr1:150670600-150681200	Weak transcription	A549	lung
5	chr1:150670600-150681400	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr1:150670600-150702600	Weak transcription	Hela-S3	cervix
7	chr1:150675400-150675800	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr1:150675400-150676600	Enhancers	GM12878-XiMat	blood
9	chr1:150675400-150677400	Strong transcription	Monocytes-CD14+_RO01746	blood

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