Variant report

Variant	esv1838449
Chromosome Location	chr1:58733050-58769757
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:58762783..58765728-chr1:58766198..58768181,2	K562	blood:
2	chr1:58767959..58770978-chr1:58771115..58773596,3	K562	blood:
3	chr1:58747692..58750339-chr1:58769742..58771808,2	MCF-7	breast:
4	chr1:58740800..58743267-chr1:58744921..58746475,2	K562	blood:
5	chr1:58740800..58743267-chr1:58744921..58746475,2	K562	blood:
6	chr1:58762783..58765728-chr1:58766198..58768181,2	K562	blood:
7	chr1:58747692..58750339-chr1:58769742..58771808,2	MCF-7	breast:

Extended variants
information (count: 1208 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:1208 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552352	chr1:58733050-58733051	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs139333497	chr1:58733142-58733143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553382	chr1:58733178-58733179	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs182167491	chr1:58733228-58733229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563075051	chr1:58733239-58733240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531903871	chr1:58733274-58733275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149616573	chr1:58733277-58733278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs584517	chr1:58733326-58733327	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs184869077	chr1:58733352-58733353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547432466	chr1:58733366-58733367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370467266	chr1:58733398-58733399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570472338	chr1:58733406-58733407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533254992	chr1:58733407-58733408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113241598	chr1:58733416-58733417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569767251	chr1:58733434-58733435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144371575	chr1:58733460-58733461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189305613	chr1:58733466-58733467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368350335	chr1:58733469-58733470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566015099	chr1:58733482-58733483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534909136	chr1:58733498-58733499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs17117229	chr1:58733538-58733539	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs577662364	chr1:58733577-58733578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs594099	chr1:58733579-58733580	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs113031042	chr1:58733590-58733591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573638724	chr1:58733639-58733640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs594016	chr1:58733646-58733647	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs528474025	chr1:58733705-58733706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11808878	chr1:58733713-58733714	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs572708793	chr1:58733722-58733723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs586332	chr1:58733753-58733754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs579694	chr1:58733754-58733755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112008909	chr1:58733760-58733761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371765778	chr1:58733761-58733762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs398102748	chr1:58733762-58733763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143564912	chr1:58733850-58733851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181931914	chr1:58733863-58733864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs580673	chr1:58733869-58733870	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs146797466	chr1:58733884-58733885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185197910	chr1:58733903-58733904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs565694310	chr1:58733947-58733948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs597687	chr1:58733957-58733958	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs191088966	chr1:58733993-58733994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376251282	chr1:58734008-58734009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114217374	chr1:58734025-58734026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs592262	chr1:58734031-58734032	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs139612258	chr1:58734036-58734037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573727131	chr1:58734037-58734038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370360202	chr1:58734104-58734105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535955602	chr1:58734123-58734124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs181203459	chr1:58734151-58734152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
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
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
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
Meckel-Gruber syndrome	21572526	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	16616336	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:58724000-58759600	Weak transcription	Ovary	ovary
2	chr1:58740200-58740600	Enhancers	H1 Cell Line	embryonic stem cell
3	chr1:58740200-58740600	Active TSS	H9 Cell Line	embryonic stem cell
4	chr1:58740200-58740600	Active TSS	Placenta	Placenta
5	chr1:58740200-58740800	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr1:58740200-58740800	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr1:58740200-58741000	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr1:58740200-58741000	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr1:58740200-58741000	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr1:58740800-58741000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr1:58741600-58741800	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr1:58741800-58749600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr1:58745200-58745400	Weak transcription	Lung	lung
14	chr1:58745400-58745800	ZNF genes & repeats	Lung	lung
15	chr1:58747600-58747800	Bivalent Enhancer	Fetal Heart	heart
16	chr1:58747600-58750600	Enhancers	Fetal Brain Male	brain
17	chr1:58747800-58749200	Enhancers	Fetal Heart	heart
18	chr1:58748000-58749000	Enhancers	Fetal Brain Female	brain
19	chr1:58748000-58750600	Enhancers	Liver	Liver
20	chr1:58748200-58749400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:58748400-58748800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:58748400-58749400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:58748600-58749000	Enhancers	Left Ventricle	heart
24	chr1:58748800-58749200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:58748800-58750200	Enhancers	HepG2	liver
26	chr1:58749200-58749600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:58750000-58750200	Enhancers	Left Ventricle	heart
28	chr1:58757400-58777000	Weak transcription	Primary T cells from cord blood	blood
29	chr1:58758600-58759000	Enhancers	HSMMtube	muscle
30	chr1:58758800-58759600	Enhancers	Liver	Liver
31	chr1:58758800-58759600	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr1:58761800-58762200	Enhancers	H9 Cell Line	embryonic stem cell
33	chr1:58762000-58762200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr1:58762000-58762400	Enhancers	H1 Cell Line	embryonic stem cell
35	chr1:58762000-58762400	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr1:58763400-58766400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr1:58764200-58764400	Bivalent Enhancer	Left Ventricle	heart
38	chr1:58766400-58766600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr1:58766600-58773200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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