Variant report

Variant	esv3450708
Chromosome Location	chr1:153221928-153224626
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555908646	chr1:153222034-153222035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575958983	chr1:153222079-153222080	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544514332	chr1:153222096-153222097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564390419	chr1:153222097-153222098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs577862549	chr1:153222100-153222101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs540417316	chr1:153222101-153222102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189807384	chr1:153222165-153222166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs151175542	chr1:153222225-153222226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs182120376	chr1:153222238-153222239	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532967197	chr1:153222286-153222287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs148213046	chr1:153222311-153222312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs115461136	chr1:153222355-153222356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs140123438	chr1:153222360-153222361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs75828937	chr1:153222400-153222401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs372101263	chr1:153222510-153222511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145230098	chr1:153222530-153222531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185319549	chr1:153222587-153222588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138502002	chr1:153222609-153222610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547256385	chr1:153222616-153222617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs7532289	chr1:153222657-153222658	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs190902139	chr1:153222683-153222684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs111238351	chr1:153222841-153222842	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs184043310	chr1:153222852-153222853	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs370691625	chr1:153222870-153222871	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs7554266	chr1:153222881-153222882	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs543628896	chr1:153222939-153222940	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs558068910	chr1:153222987-153222988	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs577901889	chr1:153223042-153223043	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs540452674	chr1:153223089-153223090	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs113846127	chr1:153223099-153223100	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs574141240	chr1:153223130-153223131	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs367909454	chr1:153223131-153223132	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs542762960	chr1:153223132-153223133	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs377094365	chr1:153223150-153223151	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs562999122	chr1:153223173-153223174	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs531780987	chr1:153223205-153223206	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs201605423	chr1:153223211-153223212	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs192996335	chr1:153223227-153223228	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs565365423	chr1:153223228-153223229	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs572696236	chr1:153223239-153223240	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs529355235	chr1:153223245-153223246	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs146141104	chr1:153223264-153223265	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs527606023	chr1:153223276-153223277	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs138970581	chr1:153223295-153223296	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs567360064	chr1:153223309-153223310	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs536400738	chr1:153223312-153223313	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs549655687	chr1:153223323-153223324	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs569401150	chr1:153223383-153223384	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs538281607	chr1:153223386-153223387	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs374912367	chr1:153223394-153223395	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	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
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
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153217600-153222200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:153221000-153224200	Enhancers	Fetal Brain Male	brain
3	chr1:153221200-153223400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr1:153222200-153222600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:153222200-153223000	Enhancers	Brain Angular Gyrus	brain
6	chr1:153222800-153223000	Enhancers	Esophagus	oesophagus
7	chr1:153222800-153223400	Bivalent Enhancer	Adipose Nuclei	Adipose
8	chr1:153223000-153223400	Bivalent/Poised TSS	Fetal Kidney	kidney
9	chr1:153223000-153224000	Weak transcription	Esophagus	oesophagus
10	chr1:153223400-153223800	Enhancers	Adipose Nuclei	Adipose
11	chr1:153223400-153225800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:153223600-153225000	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr1:153224000-153224400	Enhancers	Esophagus	oesophagus
14	chr1:153224000-153224800	Enhancers	GM12878-XiMat	blood
15	chr1:153224200-153227800	Weak transcription	Fetal Brain Male	brain
16	chr1:153224400-153224600	Weak transcription	Esophagus	oesophagus
17	chr1:153224600-153225000	Enhancers	Esophagus	oesophagus

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