Variant report

Variant	esv3430131
Chromosome Location	chr1:152753939-152755058
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	RFX5	chr1:152753929-152754418	K562	blood:	n/a	n/a

Variant related genes	Relation type
LCE1E	TF binding region

Extended variants
information (count: 45 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115864593	chr1:152753964-152753965	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs546144640	chr1:152753983-152753984	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs559979712	chr1:152754016-152754017	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs2879458	chr1:152754039-152754040	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs147964536	chr1:152754062-152754063	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs568353248	chr1:152754064-152754065	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs530869779	chr1:152754075-152754076	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs141853440	chr1:152754090-152754091	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs552953120	chr1:152754138-152754139	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs577527465	chr1:152754147-152754148	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs546708055	chr1:152754174-152754175	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs544213986	chr1:152754194-152754195	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs180770079	chr1:152754311-152754312	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs199701162	chr1:152754322-152754323	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs58706512	chr1:152754323-152754324	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs560685173	chr1:152754410-152754411	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs186027739	chr1:152754412-152754413	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs537516066	chr1:152754414-152754415	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs73016794	chr1:152754427-152754428	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs545762392	chr1:152754537-152754538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147098718	chr1:152754545-152754546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138483259	chr1:152754558-152754559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376711644	chr1:152754585-152754586	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374356307	chr1:152754594-152754595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573188322	chr1:152754601-152754602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11586156	chr1:152754630-152754631	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs561921959	chr1:152754669-152754670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79225270	chr1:152754707-152754708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79361977	chr1:152754708-152754709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531027296	chr1:152754714-152754715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192135665	chr1:152754752-152754753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564584852	chr1:152754799-152754800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533312509	chr1:152754804-152754805	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546965004	chr1:152754819-152754820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs151091369	chr1:152754825-152754826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566881596	chr1:152754849-152754850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535701632	chr1:152754874-152754875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183891447	chr1:152754878-152754879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558165207	chr1:152754879-152754880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529598787	chr1:152754890-152754891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11205103	chr1:152754916-152754917	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs369168951	chr1:152754924-152754925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188649573	chr1:152754944-152754945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543597578	chr1:152754946-152754947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542868431	chr1:152754980-152754981	Enhancers Weak transcription	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152747800-152755400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:152754000-152754200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:152754000-152754200	Enhancers	NHDF-Ad	bronchial
4	chr1:152754200-152755400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:152754200-152755400	Weak transcription	NHDF-Ad	bronchial
6	chr1:152754200-152756000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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