Variant report

Variant	nsv526087
Chromosome Location	chr1:57576438-57579610
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 124 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs491585	chr1:57576438-57576439	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs550228174	chr1:57576455-57576456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548500937	chr1:57576466-57576467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567704537	chr1:57576474-57576475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs567031923	chr1:57576484-57576485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375582242	chr1:57576485-57576486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553321135	chr1:57576492-57576493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147143473	chr1:57576498-57576499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs564691	chr1:57576499-57576500	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs114411830	chr1:57576530-57576531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs386631464	chr1:57576550-57576551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs564575	chr1:57576551-57576552	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs544748663	chr1:57576593-57576594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189314373	chr1:57576630-57576631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373433806	chr1:57576635-57576636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574467313	chr1:57576646-57576647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539990135	chr1:57576658-57576659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140354903	chr1:57576699-57576700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs532116717	chr1:57576701-57576702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142136994	chr1:57576753-57576754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs151086607	chr1:57576754-57576755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555521625	chr1:57576784-57576785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs181219018	chr1:57576825-57576826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs17453874	chr1:57576867-57576868	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs715848	chr1:57576869-57576870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530194208	chr1:57576913-57576914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs486939	chr1:57576943-57576944	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs186527074	chr1:57576966-57576967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574443221	chr1:57577020-57577021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538611862	chr1:57577040-57577041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558536225	chr1:57577075-57577076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1149627	chr1:57577083-57577084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190610833	chr1:57577092-57577093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs538199045	chr1:57577138-57577139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555131904	chr1:57577139-57577140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574964091	chr1:57577143-57577144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537767776	chr1:57577256-57577257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs74972477	chr1:57577266-57577267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577024572	chr1:57577276-57577277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs573395	chr1:57577287-57577288	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs35995878	chr1:57577303-57577304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562512530	chr1:57577318-57577319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531624333	chr1:57577326-57577327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535905567	chr1:57577339-57577340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375982576	chr1:57577340-57577341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs149845352	chr1:57577373-57577374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs80084811	chr1:57577393-57577394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183075415	chr1:57577513-57577514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566583525	chr1:57577523-57577524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553632161	chr1:57577575-57577576	Weak transcription Enhancers	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
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	19490664	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57551400-57622000	Weak transcription	Fetal Intestine Small	intestine
2	chr1:57567400-57576800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:57571600-57577600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr1:57571800-57577000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:57572000-57576800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr1:57572200-57576800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:57572200-57577000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr1:57573400-57577400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:57574200-57578000	Enhancers	Fetal Heart	heart
10	chr1:57574400-57577600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:57575000-57580600	Weak transcription	Left Ventricle	heart
12	chr1:57575000-57581600	Weak transcription	Right Atrium	heart
13	chr1:57575400-57576600	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr1:57575600-57580400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr1:57576000-57577000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:57576200-57576600	Weak transcription	Fetal Stomach	stomach
17	chr1:57576200-57577600	Enhancers	Rectal Smooth Muscle	rectum
18	chr1:57576200-57584800	Weak transcription	Colon Smooth Muscle	Colon
19	chr1:57576600-57577400	Enhancers	Fetal Stomach	stomach
20	chr1:57576800-57577000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr1:57576800-57577000	Enhancers	NHEK	skin
22	chr1:57576800-57577200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:57576800-57577200	Enhancers	Brain Inferior Temporal Lobe	brain
24	chr1:57576800-57579800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr1:57577000-57577200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:57577000-57577400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr1:57577000-57578200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:57577000-57578200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:57577000-57578200	Enhancers	HMEC	breast
30	chr1:57577000-57578600	Weak transcription	NHEK	skin
31	chr1:57577000-57578800	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr1:57577000-57579800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:57577200-57595600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:57577400-57578600	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr1:57577400-57578800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:57577600-57578200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:57577600-57578400	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr1:57577600-57578800	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr1:57577600-57578800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:57577600-57579400	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr1:57577800-57578000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:57578000-57579400	Weak transcription	Fetal Heart	heart
43	chr1:57578200-57579400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr1:57578200-57589600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr1:57578400-57578800	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr1:57578600-57582400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr1:57578800-57579200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:57579200-57579400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr1:57579400-57579800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr1:57579400-57583600	Enhancers	Fetal Heart	heart

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