Variant report

Variant	nsv546309
Chromosome Location	chr1:58722310-58742150
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:58722416..58724317-chr1:58724409..58727199,2	K562	blood:
2	chr1:58722434..58724317-chr1:58724409..58727876,3	K562	blood:
3	chr1:58722416..58724317-chr1:58724409..58727199,2	K562	blood:
4	chr1:58722434..58724317-chr1:58724409..58727876,3	K562	blood:
5	chr1:58740800..58743267-chr1:58744921..58746475,2	K562	blood:

Extended variants
information (count: 628 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:628 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542511	chr1:58722310-58722311	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs375142623	chr1:58722351-58722352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554196427	chr1:58722371-58722372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573914899	chr1:58722388-58722389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs146260467	chr1:58722391-58722392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs35629232	chr1:58722409-58722410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs72277529	chr1:58722410-58722411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553273051	chr1:58722432-58722433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12132541	chr1:58722463-58722464	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs542864561	chr1:58722470-58722471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138142119	chr1:58722493-58722494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561268392	chr1:58722554-58722555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs75847722	chr1:58722572-58722573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11207180	chr1:58722598-58722599	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs544742774	chr1:58722631-58722632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572875194	chr1:58722641-58722642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375120811	chr1:58722646-58722647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561332392	chr1:58722703-58722704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530202045	chr1:58722721-58722722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546803488	chr1:58722740-58722741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550089192	chr1:58722745-58722746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs71642157	chr1:58722748-58722749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs17117197	chr1:58722753-58722754	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs7536463	chr1:58722775-58722776	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs114098922	chr1:58722824-58722825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537418039	chr1:58722911-58722912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547949826	chr1:58723011-58723012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547893851	chr1:58723020-58723021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567847951	chr1:58723053-58723054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs533618928	chr1:58723070-58723071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs72910488	chr1:58723089-58723090	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs573318848	chr1:58723092-58723093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539324704	chr1:58723124-58723125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs566040462	chr1:58723156-58723157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558961359	chr1:58723213-58723214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs590047	chr1:58723248-58723249	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs555675619	chr1:58723302-58723303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540345117	chr1:58723393-58723394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs376075654	chr1:58723394-58723395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544652812	chr1:58723467-58723468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs554981388	chr1:58723501-58723502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575034492	chr1:58723510-58723511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs540360445	chr1:58723511-58723512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs148634173	chr1:58723521-58723522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs17117200	chr1:58723558-58723559	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs185583777	chr1:58723571-58723572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs113198166	chr1:58723603-58723604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs188927372	chr1:58723615-58723616	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs17440773	chr1:58723623-58723624	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs367726793	chr1:58723650-58723651	Enhancers	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
Pancreatic cancer	17952125	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:58722000-58723000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:58722800-58723800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr1:58723000-58724200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:58723600-58724000	Enhancers	Fetal Brain Male	brain
5	chr1:58723800-58724000	Enhancers	Ovary	ovary
6	chr1:58723800-58724200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
7	chr1:58724000-58724400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:58724000-58759600	Weak transcription	Ovary	ovary
9	chr1:58731000-58731400	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr1:58740200-58740600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr1:58740200-58740600	Active TSS	H9 Cell Line	embryonic stem cell
12	chr1:58740200-58740600	Active TSS	Placenta	Placenta
13	chr1:58740200-58740800	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr1:58740200-58740800	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr1:58740200-58741000	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr1:58740200-58741000	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr1:58740200-58741000	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr1:58740800-58741000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr1:58741600-58741800	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr1:58741800-58749600	Weak transcription	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links