Variant report

Variant	nsv518726
Chromosome Location	chr2:142320231-142321708
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	chr2:142320561..142322150-chr2:142885194..142887458,2	MCF-7	breast:
2	chr2:142317711..142321512-chr2:142324977..142327310,3	MCF-7	breast:

Extended variants
information (count: 56 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10182090	chr2:142320231-142320232	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557995452	chr2:142320232-142320233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577878765	chr2:142320250-142320251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs540380089	chr2:142320302-142320303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs13401279	chr2:142320371-142320372	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs571367115	chr2:142320419-142320420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536705469	chr2:142320449-142320450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542741001	chr2:142320572-142320573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35079119	chr2:142320631-142320632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs62169799	chr2:142320634-142320635	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs112778122	chr2:142320635-142320636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs531321258	chr2:142320646-142320647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116738852	chr2:142320657-142320658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552979996	chr2:142320679-142320680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189221102	chr2:142320687-142320688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533455571	chr2:142320770-142320771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192172223	chr2:142320799-142320800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147704037	chr2:142320800-142320801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535682914	chr2:142320809-142320810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs140709321	chr2:142320823-142320824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569265141	chr2:142320844-142320845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184488336	chr2:142320869-142320870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557868715	chr2:142320908-142320909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577826418	chr2:142320922-142320923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189455131	chr2:142320951-142320952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4954918	chr2:142320971-142320972	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs554154490	chr2:142320995-142320996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6715233	chr2:142321044-142321045	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs144572837	chr2:142321045-142321046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112084103	chr2:142321061-142321062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562576100	chr2:142321120-142321121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191742619	chr2:142321163-142321164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576059560	chr2:142321225-142321226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184108071	chr2:142321255-142321256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs62169800	chr2:142321269-142321270	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs564718424	chr2:142321293-142321294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12615716	chr2:142321308-142321309	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs78196000	chr2:142321402-142321403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374095719	chr2:142321436-142321437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148998604	chr2:142321456-142321457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529416679	chr2:142321460-142321461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576994698	chr2:142321461-142321462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549330919	chr2:142321475-142321476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558995708	chr2:142321504-142321505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143830925	chr2:142321518-142321519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531719872	chr2:142321549-142321550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377747314	chr2:142321550-142321551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371163493	chr2:142321564-142321565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373722111	chr2:142321573-142321574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188846123	chr2:142321641-142321642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	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
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma	21080181	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Autism	22543975	CNVD
Cancer	20164920	CNVD
Hypertension	22686481	CNVD
Hypospadia	22686481	CNVD
Intellectual disability	22686481	CNVD
Omphalocele	22686481	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142315200-142322600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr2:142315200-142327800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:142318200-142322200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:142318200-142322600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr2:142320000-142320400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:142320400-142327800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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