Variant report

Variant	nsv525581
Chromosome Location	chr1:58582979-58598226
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:58577364..58579775-chr1:58581078..58583848,2	MCF-7	breast:

Extended variants
information (count: 311 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:311 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1767574	chr1:58582979-58582980	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs10493243	chr1:58582994-58582995	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs560423573	chr1:58583003-58583004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532444364	chr1:58583038-58583039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs552453295	chr1:58583104-58583105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569066686	chr1:58583134-58583135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531300748	chr1:58583161-58583162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141287868	chr1:58583177-58583178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187197666	chr1:58583211-58583212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533672675	chr1:58583226-58583227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs553143732	chr1:58583227-58583228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190884906	chr1:58583277-58583278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs79953646	chr1:58583284-58583285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551852330	chr1:58583285-58583286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs150228986	chr1:58583336-58583337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530064327	chr1:58583355-58583356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs554695855	chr1:58583380-58583381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377506950	chr1:58583404-58583405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540775545	chr1:58583431-58583432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372624803	chr1:58583477-58583478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182739572	chr1:58583498-58583499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138584529	chr1:58583505-58583506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566895035	chr1:58583514-58583515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35807060	chr1:58583515-58583516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199678510	chr1:58583516-58583517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs111572245	chr1:58583517-58583518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs397804354	chr1:58583524-58583525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs397818946	chr1:58583525-58583526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs202029246	chr1:58583526-58583527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs200296424	chr1:58583527-58583528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201429950	chr1:58583528-58583529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs202180986	chr1:58583529-58583530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12079978	chr1:58583535-58583536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531532685	chr1:58583553-58583554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548152211	chr1:58583662-58583663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114746205	chr1:58583725-58583726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74472212	chr1:58583745-58583746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201172110	chr1:58583748-58583749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547044494	chr1:58583832-58583833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570224872	chr1:58583872-58583873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs2797611	chr1:58583878-58583879	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs376505466	chr1:58583890-58583891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528932611	chr1:58583923-58583924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143551210	chr1:58584001-58584002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538192635	chr1:58584002-58584003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112679067	chr1:58584017-58584018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535376363	chr1:58584053-58584054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556872290	chr1:58584072-58584073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370666008	chr1:58584101-58584102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2797612	chr1:58584115-58584116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
Myelofibrosis	22110671	CNVD
Developmental delay	19490664	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:58577800-58585600	Weak transcription	Thymus	Thymus
2	chr1:58585200-58586000	Enhancers	GM12878-XiMat	blood
3	chr1:58585600-58585800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr1:58585600-58586000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:58585600-58586000	Enhancers	Thymus	Thymus
6	chr1:58586000-58587200	Weak transcription	Thymus	Thymus
7	chr1:58587200-58587400	Enhancers	Thymus	Thymus
8	chr1:58588400-58588600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:58588400-58589800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:58588600-58589400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:58588600-58589400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:58589400-58590600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:58597600-58598000	Active TSS	H9 Cell Line	embryonic stem cell
14	chr1:58597600-58598000	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr1:58597800-58598400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr1:58597800-58598400	Enhancers	H1 Cell Line	embryonic stem cell
17	chr1:58597800-58598600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr1:58598000-58598400	Enhancers	H9 Cell Line	embryonic stem cell
19	chr1:58598000-58598600	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr1:58598200-58598400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:58598200-58599600	Enhancers	Fetal Thymus	thymus
22	chr1:58598200-58599600	Enhancers	Thymus	Thymus

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