Variant report

Variant	nsv1010188
Chromosome Location	chr1:58802487-58837012
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:58815555..58817828-chr1:58819900..58822512,2	K562	blood:
2	chr1:58818533..58820459-chr1:58820821..58822509,2	K562	blood:
3	chr1:58799608..58801830-chr1:58803246..58806854,3	K562	blood:
4	chr1:58826471..58829368-chr1:58831041..58834021,2	K562	blood:
5	chr1:58826471..58829368-chr1:58831041..58834021,2	K562	blood:
6	chr1:58818533..58820459-chr1:58820821..58822509,2	K562	blood:
7	chr1:58815555..58817828-chr1:58819900..58822512,2	K562	blood:

Extended variants
information (count: 1254 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:1254 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1213647	chr1:58802487-58802488	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs566555733	chr1:58802490-58802491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538794519	chr1:58802500-58802501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558603211	chr1:58802574-58802575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575524166	chr1:58802588-58802589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535071484	chr1:58802593-58802594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555059171	chr1:58802600-58802601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2211324	chr1:58802608-58802609	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs554647363	chr1:58802682-58802683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369273172	chr1:58802708-58802709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574483161	chr1:58802745-58802746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540333921	chr1:58802760-58802761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs2147335	chr1:58802774-58802775	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs140325563	chr1:58802806-58802807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs578188886	chr1:58802819-58802820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545749645	chr1:58802831-58802832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545611898	chr1:58802852-58802853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565320601	chr1:58802855-58802856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531147854	chr1:58802893-58802894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550857421	chr1:58802926-58802927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192471889	chr1:58802932-58802933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185101611	chr1:58802940-58802941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78013121	chr1:58802957-58802958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200507699	chr1:58802958-58802959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs188247853	chr1:58802973-58802974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566931147	chr1:58802979-58802980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs180697900	chr1:58803077-58803078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572559125	chr1:58803150-58803151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564420479	chr1:58803151-58803152	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552385270	chr1:58803163-58803164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543118823	chr1:58803169-58803170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569065934	chr1:58803178-58803179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538191122	chr1:58803204-58803205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs554858301	chr1:58803206-58803207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs574495179	chr1:58803230-58803231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12757936	chr1:58803241-58803242	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs186089592	chr1:58803253-58803254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs145419619	chr1:58803302-58803303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545569708	chr1:58803419-58803420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369865077	chr1:58803455-58803456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs565520359	chr1:58803463-58803464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575384494	chr1:58803464-58803465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576646299	chr1:58803498-58803499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189450616	chr1:58803523-58803524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs116608631	chr1:58803528-58803529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs199830992	chr1:58803610-58803611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs1213648	chr1:58803613-58803614	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs547001655	chr1:58803651-58803652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs61781920	chr1:58803658-58803659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs140088021	chr1:58803660-58803661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:58796400-58803000	Weak transcription	Primary T cells from cord blood	blood
2	chr1:58802600-58810800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:58803000-58804000	Enhancers	Primary T cells from cord blood	blood
4	chr1:58803200-58803600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr1:58803400-58804200	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr1:58803800-58804000	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr1:58804000-58810200	Weak transcription	Primary T cells from cord blood	blood
8	chr1:58804000-58810800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr1:58805200-58807200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:58805400-58806800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:58805600-58806800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:58805600-58807000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:58805600-58807000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr1:58805800-58806400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:58806000-58806400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr1:58806000-58806400	Enhancers	Fetal Lung	lung
17	chr1:58806400-58810600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr1:58806400-58810800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:58807000-58810400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr1:58807200-58810400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr1:58810400-58811400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:58810400-58811800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:58810400-58812400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:58810600-58811200	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr1:58810600-58811400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:58810600-58812600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr1:58810800-58811400	Enhancers	Liver	Liver
28	chr1:58810800-58811600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:58810800-58811800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr1:58810800-58811800	Enhancers	H9 Cell Line	embryonic stem cell
31	chr1:58810800-58811800	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr1:58810800-58812000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr1:58810800-58812200	Enhancers	H1 Cell Line	embryonic stem cell
34	chr1:58810800-58812200	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr1:58810800-58812400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:58810800-58812600	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr1:58811000-58812200	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr1:58811000-58812200	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr1:58811200-58811400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr1:58811200-58812200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:58811400-58811600	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr1:58811400-58812200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:58811400-58812200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:58811600-58811800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr1:58811800-58812200	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr1:58811800-58823200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr1:58812000-58813200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr1:58812200-58812600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:58812200-58813200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:58812400-58813000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links