Variant report

Variant	nsv10195
Chromosome Location	chr1:57547001-57550700
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	chr1:57537146..57539862-chr1:57547524..57549494,2	K562	blood:
2	chr1:57544234..57547035-chr1:57693675..57695976,2	K562	blood:

Extended variants
information (count: 157 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:157 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77786609	chr1:57547035-57547036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs191236381	chr1:57547074-57547075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs151299267	chr1:57547090-57547091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552458988	chr1:57547095-57547096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs17114957	chr1:57547097-57547098	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs534602500	chr1:57547266-57547267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555589770	chr1:57547300-57547301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572191417	chr1:57547301-57547302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183873134	chr1:57547308-57547309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188529671	chr1:57547385-57547386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532506177	chr1:57547432-57547433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558891194	chr1:57547450-57547451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs386631460	chr1:57547468-57547469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs3768185	chr1:57547470-57547471	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs72672614	chr1:57547539-57547540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181196377	chr1:57547650-57547651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140571770	chr1:57547682-57547683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs377673683	chr1:57547698-57547699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547434723	chr1:57547700-57547701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs3768184	chr1:57547703-57547704	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs539567794	chr1:57547769-57547770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556178231	chr1:57547790-57547791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569706714	chr1:57547792-57547793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186473218	chr1:57547810-57547811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536486254	chr1:57547817-57547818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs555374233	chr1:57547840-57547841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs116189273	chr1:57547852-57547853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs3768183	chr1:57547857-57547858	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs151006333	chr1:57547950-57547951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113288210	chr1:57547956-57547957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs540270276	chr1:57548019-57548020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554213338	chr1:57548053-57548054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577245721	chr1:57548069-57548070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545930246	chr1:57548072-57548073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562534000	chr1:57548096-57548097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144484904	chr1:57548137-57548138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs61765270	chr1:57548138-57548139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534525038	chr1:57548150-57548151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558961197	chr1:57548173-57548174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs542071800	chr1:57548177-57548178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562253888	chr1:57548208-57548209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs12043593	chr1:57548216-57548217	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs112653827	chr1:57548233-57548234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs141444708	chr1:57548246-57548247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs144945775	chr1:57548298-57548299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs190220657	chr1:57548304-57548305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs12025887	chr1:57548321-57548322	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs535450144	chr1:57548354-57548355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372311121	chr1:57548361-57548362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565859790	chr1:57548382-57548383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57530800-57548000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:57534000-57551000	Weak transcription	Fetal Intestine Small	intestine
3	chr1:57534000-57552600	Weak transcription	Fetal Intestine Large	intestine
4	chr1:57538600-57550400	Weak transcription	Fetal Brain Male	brain
5	chr1:57541800-57552200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:57543600-57548800	Weak transcription	Fetal Brain Female	brain
7	chr1:57544000-57555000	Weak transcription	Left Ventricle	heart
8	chr1:57545000-57549400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr1:57545200-57548600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:57546600-57547600	Weak transcription	Fetal Heart	heart
11	chr1:57546800-57549400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:57547600-57549800	Enhancers	Fetal Heart	heart
13	chr1:57548000-57548200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:57548000-57553000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:57548000-57553400	Enhancers	Ovary	ovary
16	chr1:57548200-57550400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:57548600-57549200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:57548600-57549600	Enhancers	Right Ventricle	heart
19	chr1:57548800-57549000	Enhancers	Right Atrium	heart
20	chr1:57548800-57549600	Enhancers	Fetal Brain Female	brain
21	chr1:57548800-57553000	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr1:57548800-57566600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr1:57549000-57555200	Weak transcription	Right Atrium	heart
24	chr1:57549200-57554600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:57549400-57549600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:57549400-57550200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:57549400-57551000	Enhancers	Brain Germinal Matrix	brain
28	chr1:57549600-57550800	Weak transcription	Fetal Brain Female	brain
29	chr1:57549600-57556000	Weak transcription	Right Ventricle	heart
30	chr1:57549600-57566600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr1:57549800-57550800	Enhancers	Brain Hippocampus Middle	brain
32	chr1:57549800-57552000	Weak transcription	Fetal Heart	heart
33	chr1:57550000-57550600	Enhancers	Brain Anterior Caudate	brain
34	chr1:57550200-57555400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:57550400-57552600	Enhancers	Fetal Brain Male	brain
36	chr1:57550400-57553400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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