Variant report

Variant	nsv528674
Chromosome Location	chr2:125346337-125383522
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 493 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:493 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4355122	chr2:125346337-125346338	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs537060724	chr2:125346347-125346348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs201616192	chr2:125346372-125346373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs148538797	chr2:125346387-125346388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs562767914	chr2:125346590-125346591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567725689	chr2:125346599-125346600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536391561	chr2:125346622-125346623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192977192	chr2:125346630-125346631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34892351	chr2:125346732-125346733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs531771955	chr2:125346741-125346742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1504018	chr2:125346766-125346767	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs534887870	chr2:125346771-125346772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536512311	chr2:125346781-125346782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs145196141	chr2:125346796-125346797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558100698	chr2:125346829-125346830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112547812	chr2:125346841-125346842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543422620	chr2:125346847-125346848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563321402	chr2:125346873-125346874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573672256	chr2:125346884-125346885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542366045	chr2:125346911-125346912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559849091	chr2:125346931-125346932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1504017	chr2:125346934-125346935	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs547090194	chr2:125346951-125346952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4848943	chr2:125346960-125346961	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs374508640	chr2:125346976-125346977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531136073	chr2:125346983-125346984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182903878	chr2:125347028-125347029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs140552354	chr2:125347038-125347039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs6741294	chr2:125347053-125347054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs530162960	chr2:125347064-125347065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546802030	chr2:125347108-125347109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565833492	chr2:125347136-125347137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs534795105	chr2:125347168-125347169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558015015	chr2:125347204-125347205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571565271	chr2:125347249-125347250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537385586	chr2:125347262-125347263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549578044	chr2:125347286-125347287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556877111	chr2:125347297-125347298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs188852118	chr2:125347326-125347327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs4848944	chr2:125347357-125347358	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs535040330	chr2:125347373-125347374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552806727	chr2:125347424-125347425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572925027	chr2:125347432-125347433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs73952838	chr2:125347448-125347449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576338708	chr2:125347498-125347499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs6715888	chr2:125347505-125347506	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs6759754	chr2:125347529-125347530	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs555511554	chr2:125347553-125347554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534208532	chr2:125347569-125347570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs192889723	chr2:125347595-125347596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Developmental delay	21147756	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:125346000-125346600	Enhancers	Fetal Intestine Large	intestine
2	chr2:125346600-125348000	Weak transcription	Fetal Intestine Large	intestine
3	chr2:125347000-125348200	Enhancers	Fetal Intestine Small	intestine
4	chr2:125347400-125347600	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr2:125348000-125349000	Enhancers	Fetal Intestine Large	intestine
6	chr2:125348200-125349200	Weak transcription	Fetal Intestine Small	intestine
7	chr2:125349200-125349400	Enhancers	Fetal Intestine Small	intestine
8	chr2:125358000-125358400	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr2:125362600-125362800	ZNF genes & repeats	Aorta	Aorta
10	chr2:125365000-125365600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:125365000-125365600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:125365000-125365600	Bivalent Enhancer	HepG2	liver
13	chr2:125365200-125365600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:125365600-125365800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:125365600-125366600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:125365800-125366400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:125366400-125367000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:125366600-125367600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:125367000-125369400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:125367200-125369200	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr2:125367200-125369600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr2:125367200-125369800	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr2:125367200-125370200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr2:125367200-125370200	Enhancers	H9 Cell Line	embryonic stem cell
25	chr2:125367200-125370200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr2:125367400-125368000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr2:125367400-125369600	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr2:125367600-125368600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr2:125367600-125369000	Enhancers	H1 Cell Line	embryonic stem cell
30	chr2:125367600-125369600	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr2:125367800-125368000	Enhancers	Brain Germinal Matrix	brain
32	chr2:125368000-125368800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr2:125368000-125369000	Weak transcription	Brain Germinal Matrix	brain
34	chr2:125368600-125369000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr2:125368600-125369400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr2:125368800-125369600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr2:125369000-125369400	Enhancers	Brain Germinal Matrix	brain
38	chr2:125369000-125369600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:125369000-125371000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr2:125369200-125369600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr2:125369200-125369600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr2:125369400-125370800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:125369600-125369800	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr2:125370800-125371200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:125371000-125371400	Enhancers	H1 Cell Line	embryonic stem cell
46	chr2:125371200-125373200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:125373200-125373800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:125381200-125381800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:125381400-125381800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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