Variant report

Variant	nsv514008
Chromosome Location	chr1:152649888-152655744
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	RCOR1	chr1:152652906-152652979	K562	blood:	n/a	n/a
2	TAL1	chr1:152650573-152650804	K562	blood:	n/a	chr1:152650598-152650606

Variant related genes	Relation type
LCE2B	TF binding region

Extended variants
information (count: 76 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572998401	chr1:152652811-152652812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535521308	chr1:152652878-152652879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555180811	chr1:152652894-152652895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560035591	chr1:152652909-152652910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1325506	chr1:152652913-152652914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149340816	chr1:152652918-152652919	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563832291	chr1:152652950-152652951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144162654	chr1:152652951-152652952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs11576287	chr1:152653013-152653014	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs571883499	chr1:152653126-152653127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs190622393	chr1:152653171-152653172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs181709437	chr1:152653172-152653173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537216664	chr1:152653193-152653194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35716455	chr1:152653198-152653199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs369398628	chr1:152653215-152653216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148677564	chr1:152653255-152653256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs367931832	chr1:152653261-152653262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375836153	chr1:152653281-152653282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550708810	chr1:152653291-152653292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs78052604	chr1:152653297-152653298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539298413	chr1:152653312-152653313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs10788844	chr1:152653325-152653326	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs546648247	chr1:152653407-152653408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111673577	chr1:152653426-152653427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs115774189	chr1:152653431-152653432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs555170087	chr1:152653496-152653497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs1925663	chr1:152653506-152653507	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs11205072	chr1:152653531-152653532	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs12058048	chr1:152653553-152653554	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs575759717	chr1:152653566-152653567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577144647	chr1:152653571-152653572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs1925662	chr1:152653621-152653622	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs185619736	chr1:152653637-152653638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190139245	chr1:152653665-152653666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs542160017	chr1:152653672-152653673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs55666336	chr1:152653678-152653679	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs150459903	chr1:152653687-152653688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs373907736	chr1:152653694-152653695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs61285272	chr1:152653695-152653696	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs61812665	chr1:152653697-152653698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs149114556	chr1:152653698-152653699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530998994	chr1:152653864-152653865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs183335696	chr1:152653890-152653891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs553074527	chr1:152653913-152653914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs73011151	chr1:152653994-152653995	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs577893528	chr1:152654024-152654025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs564253672	chr1:152654059-152654060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs373536986	chr1:152654065-152654066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs79976654	chr1:152654082-152654083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs201026544	chr1:152654089-152654090	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:121)

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
Esophageal adenocarcinoma	18519675	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Glioblastoma multiforme	21138945	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152652800-152654400	Enhancers	Fetal Brain Male	brain
2	chr1:152654800-152655000	Enhancers	Fetal Brain Male	brain

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