Variant report

Variant	esv1817141
Chromosome Location	chr1:153033269-153037955
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	CEBPB	chr1:153037628-153037762	K562	blood:	n/a	n/a
2	STAT3	chr1:153035841-153036289	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:153034986..153036506-chr6:26033157..26034818,2	K562	blood:

Variant related genes	Relation type
SPRR2A	TF binding region
ENSG00000137259	chromatin interactions

Extended variants
information (count: 169 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:169 , 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	rs581447	chr1:153033269-153033270	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs116581608	chr1:153033276-153033277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs490553	chr1:153033277-153033278	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs557677957	chr1:153033352-153033353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs578045775	chr1:153033390-153033391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540304816	chr1:153033405-153033406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs582345	chr1:153033406-153033407	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs529229237	chr1:153033467-153033468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs417814	chr1:153033509-153033510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs144663736	chr1:153033532-153033533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536122956	chr1:153033536-153033537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs115432803	chr1:153033573-153033574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75285101	chr1:153033578-153033579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551550613	chr1:153033583-153033584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs12748753	chr1:153033603-153033604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114790900	chr1:153033678-153033679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192099047	chr1:153033716-153033717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547017068	chr1:153033726-153033727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6675009	chr1:153033783-153033784	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs535760616	chr1:153033785-153033786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs117895495	chr1:153033831-153033832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569434822	chr1:153033889-153033890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs76312314	chr1:153033899-153033900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138414206	chr1:153033909-153033910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149245394	chr1:153033952-153033953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs114081858	chr1:153033965-153033966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs144419885	chr1:153033985-153033986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552778490	chr1:153034014-153034015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368100498	chr1:153034057-153034058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs574044799	chr1:153034096-153034097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184711775	chr1:153034150-153034151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562687210	chr1:153034166-153034167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200962301	chr1:153034208-153034209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531626534	chr1:153034215-153034216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12753609	chr1:153034230-153034231	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs565068740	chr1:153034245-153034246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs527416363	chr1:153034273-153034274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370099942	chr1:153034295-153034296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545009128	chr1:153034301-153034302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377729093	chr1:153034366-153034367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563231813	chr1:153034398-153034399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115961649	chr1:153034418-153034419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs114677176	chr1:153034449-153034450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75349513	chr1:153034452-153034453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs558964482	chr1:153034460-153034461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs538237905	chr1:153034466-153034467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549361128	chr1:153034476-153034477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569488630	chr1:153034480-153034481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6587724	chr1:153034501-153034502	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs535108133	chr1:153034535-153034536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:120)

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
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
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
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21611746	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153032200-153053400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:153032400-153033600	Enhancers	K562	blood

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