Variant report

Variant	esv1828112
Chromosome Location	chr1:62114006-62118187
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	FOXA1	chr1:62116307-62116558	T-47D	breast:	n/a	n/a
2	FOXA1	chr1:62116322-62116620	T-47D	breast:	n/a	n/a
3	GATA3	chr1:62116259-62116598	T-47D	breast:	n/a	n/a
4	GATA3	chr1:62116359-62116578	T-47D	breast:	n/a	n/a
5	POLR2A	chr1:62117975-62118015	ProgFib	skin:	n/a	n/a
6	RCOR1	chr1:62118152-62118191	K562	blood:	n/a	n/a
7	SPI1	chr1:62114351-62114789	HL-60	blood:	n/a	n/a
8	UBTF	chr1:62114417-62114490	K562	blood:	n/a	n/a
9	ZKSCAN1	chr1:62113790-62114420	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:62110139..62113045-chr1:62113882..62116057,2	K562	blood:
2	chr1:62106350..62108369-chr1:62114638..62116326,2	K562	blood:

Variant related genes	Relation type
ENSG00000223920	TF binding region

Extended variants
information (count: 117 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6703373	chr1:62114079-62114080	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs113874705	chr1:62114083-62114084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114843609	chr1:62114132-62114133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6681890	chr1:62114181-62114182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552868334	chr1:62114203-62114204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576576368	chr1:62114204-62114205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs544002841	chr1:62114227-62114228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140115961	chr1:62114243-62114244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185429320	chr1:62114273-62114274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541733609	chr1:62114306-62114307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190281707	chr1:62114331-62114332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6682088	chr1:62114378-62114379	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs1890262	chr1:62114402-62114403	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs566647003	chr1:62114484-62114485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557304296	chr1:62114486-62114487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs143782121	chr1:62114497-62114498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2095735	chr1:62114542-62114543	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs549600042	chr1:62114547-62114548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369886080	chr1:62114565-62114566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs535692153	chr1:62114591-62114592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182458580	chr1:62114648-62114649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs146855349	chr1:62114677-62114678	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79405100	chr1:62114691-62114692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186588024	chr1:62114742-62114743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536210407	chr1:62114764-62114765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369427239	chr1:62114772-62114773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554388061	chr1:62114808-62114809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34494551	chr1:62114818-62114819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569759224	chr1:62114830-62114831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537126217	chr1:62114902-62114903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559233184	chr1:62114926-62114927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577507989	chr1:62114987-62114988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372584211	chr1:62115011-62115012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs541758155	chr1:62115017-62115018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs553598878	chr1:62115103-62115104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574764911	chr1:62115154-62115155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11207797	chr1:62115269-62115270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs140607566	chr1:62115336-62115337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6698090	chr1:62115349-62115350	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs545889709	chr1:62115410-62115411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191895181	chr1:62115491-62115492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183013202	chr1:62115599-62115600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78557707	chr1:62115608-62115609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74076284	chr1:62115612-62115613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377361771	chr1:62115637-62115638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs61770067	chr1:62115651-62115652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537187649	chr1:62115701-62115702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145731750	chr1:62115717-62115718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12048380	chr1:62115777-62115778	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs151025700	chr1:62115793-62115794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	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
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Breast cancer	16620391	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
CNS Malformation Syndrome	17530927	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Colorectal cancer	20459617	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62103400-62146400	Weak transcription	Gastric	stomach
2	chr1:62114400-62115000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr1:62117800-62118200	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr1:62117800-62118400	Enhancers	Primary hematopoietic stem cells	blood

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