Variant report

Variant	esv2760743
Chromosome Location	chr1:45634781-45641788
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:45475818..45477746-chr1:45634915..45637368,2	K562	blood:
2	chr1:45480011..45482836-chr1:45633492..45635826,3	K562	blood:
3	chr1:45636963..45639172-chr1:45642101..45643985,2	K562	blood:
4	chr1:45634504..45636709-chr1:45639040..45640669,2	K562	blood:
5	chr1:45607017..45608869-chr1:45636560..45638777,2	MCF-7	breast:
6	chr1:45634504..45636709-chr1:45639040..45640669,2	K562	blood:

Variant related genes	Relation type
ENSG00000126107	chromatin interactions
ENSG00000126088	chromatin interactions

Extended variants
information (count: 264 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:264 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568385577	chr1:45634803-45634804	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs116719431	chr1:45634809-45634810	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs551664479	chr1:45634821-45634822	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs181571457	chr1:45634889-45634890	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs577077412	chr1:45634915-45634916	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs539548414	chr1:45634930-45634931	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs74070880	chr1:45634954-45634955	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs374880412	chr1:45634972-45634973	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs572970550	chr1:45634979-45634980	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs185818163	chr1:45635031-45635032	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs561510591	chr1:45635042-45635043	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs74070881	chr1:45635095-45635096	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs571776981	chr1:45635108-45635109	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs374488926	chr1:45635113-45635114	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs528081633	chr1:45635129-45635130	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs543727889	chr1:45635134-45635135	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs190193511	chr1:45635141-45635142	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs367551838	chr1:45635142-45635143	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs532531303	chr1:45635152-45635153	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs182466298	chr1:45635173-45635174	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs113147458	chr1:45635175-45635176	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs571271998	chr1:45635196-45635197	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs186795998	chr1:45635200-45635201	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs549293574	chr1:45635238-45635239	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs530849567	chr1:45635297-45635298	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs550853758	chr1:45635309-45635310	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs550612268	chr1:45635312-45635313	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs544943963	chr1:45635387-45635388	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs570662282	chr1:45635448-45635449	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs35890749	chr1:45635450-45635451	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs144501055	chr1:45635484-45635485	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs565929937	chr1:45635522-45635523	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs557145573	chr1:45635526-45635527	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs567429272	chr1:45635528-45635529	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs566604741	chr1:45635550-45635551	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs536237268	chr1:45635570-45635571	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs115170253	chr1:45635590-45635591	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs368167508	chr1:45635602-45635603	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs575099391	chr1:45635607-45635608	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs544108024	chr1:45635655-45635656	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs557525338	chr1:45635661-45635662	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs557187172	chr1:45635665-45635666	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs553380315	chr1:45635674-45635675	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs146643139	chr1:45635766-45635767	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs140782145	chr1:45635774-45635775	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs546029052	chr1:45635783-45635784	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs150091408	chr1:45635786-45635787	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs370799381	chr1:45635787-45635788	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs559506661	chr1:45635796-45635797	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs372118482	chr1:45635801-45635802	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	17603634	CNVD
Soft tissue tumor	16732325	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Adenoid cystic carcinoma	18698036	CNVD
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
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
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
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
Chronic myeloid leukemia	21384125	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	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
Uveal melanoma	20484589	CNVD
Ovarian cancer	22174824	CNVD
Muscle-eye-brain disease	21572526	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20680643	CNVD
Colorectal cancer	19287155	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45628400-45634800	Weak transcription	Hela-S3	cervix
2	chr1:45634600-45634800	Enhancers	HepG2	liver
3	chr1:45634600-45635200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:45634800-45635000	Enhancers	Hela-S3	cervix
5	chr1:45635000-45635800	Weak transcription	Hela-S3	cervix
6	chr1:45635000-45636000	Weak transcription	HepG2	liver
7	chr1:45635000-45636400	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr1:45635600-45637400	Enhancers	A549	lung
9	chr1:45635600-45642400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:45635800-45638600	Enhancers	Hela-S3	cervix
11	chr1:45636000-45637200	Enhancers	HepG2	liver
12	chr1:45636200-45636600	Enhancers	Pancreas	Pancrea
13	chr1:45636400-45637200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr1:45636600-45639600	Weak transcription	Pancreas	Pancrea
15	chr1:45636800-45637200	Enhancers	Fetal Intestine Small	intestine
16	chr1:45637200-45637400	Flanking Active TSS	HepG2	liver
17	chr1:45637200-45637600	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr1:45637400-45637800	Enhancers	Fetal Intestine Small	intestine
19	chr1:45637400-45637800	Flanking Active TSS	A549	lung
20	chr1:45637400-45637800	Enhancers	HepG2	liver
21	chr1:45637400-45638800	Enhancers	Liver	Liver
22	chr1:45637600-45638000	Enhancers	Fetal Intestine Large	intestine
23	chr1:45637600-45638000	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr1:45637800-45638200	Active TSS	HepG2	liver
25	chr1:45637800-45639000	Enhancers	A549	lung
26	chr1:45638000-45638200	Weak transcription	Fetal Intestine Large	intestine
27	chr1:45638000-45638800	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr1:45638200-45638600	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr1:45638200-45638600	Enhancers	Fetal Intestine Large	intestine
30	chr1:45638200-45638600	Flanking Active TSS	HepG2	liver
31	chr1:45638400-45638800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr1:45638400-45639000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr1:45638600-45639400	Enhancers	Brain Germinal Matrix	brain
34	chr1:45638600-45640000	Enhancers	HepG2	liver
35	chr1:45638600-45642400	Weak transcription	Hela-S3	cervix
36	chr1:45638600-45643600	Weak transcription	Fetal Intestine Large	intestine
37	chr1:45638800-45639000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:45638800-45639800	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr1:45639000-45642600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr1:45639000-45644800	Weak transcription	A549	lung
41	chr1:45639000-45645000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:45639600-45640000	Enhancers	Pancreas	Pancrea
43	chr1:45639800-45640400	Enhancers	Pancreatic Islets	Pancreatic Islet
44	chr1:45640000-45640400	Weak transcription	HepG2	liver
45	chr1:45640400-45640600	Enhancers	HepG2	liver
46	chr1:45640600-45645000	Weak transcription	HepG2	liver

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