Variant report

Variant	nsv470490
Chromosome Location	chr2:141688383-141721159
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	chr2:141691853..141693372-chr2:141697012..141698954,2	MCF-7	breast:
2	chr2:141691853..141693372-chr2:141697012..141698954,2	MCF-7	breast:

Extended variants
information (count: 381 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:381 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17519490	chr2:141688383-141688384	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs557350457	chr2:141688410-141688411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577502597	chr2:141688528-141688529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545870335	chr2:141688561-141688562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559835689	chr2:141688563-141688564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528547938	chr2:141688614-141688615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542352598	chr2:141688626-141688627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74871712	chr2:141688646-141688647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564218043	chr2:141688695-141688696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs530641762	chr2:141688738-141688739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550784524	chr2:141688777-141688778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187861957	chr2:141688782-141688783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533304639	chr2:141688783-141688784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192767452	chr2:141688829-141688830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566138713	chr2:141688838-141688839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533308465	chr2:141688845-141688846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs77076136	chr2:141688893-141688894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184252931	chr2:141688902-141688903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568640887	chr2:141688923-141688924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537233677	chr2:141688952-141688953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140461362	chr2:141688971-141688972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs577465161	chr2:141689013-141689014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs540132408	chr2:141689024-141689025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1429338	chr2:141689034-141689035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553364987	chr2:141689037-141689038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374414185	chr2:141689050-141689051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs36035792	chr2:141689060-141689061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573291942	chr2:141689076-141689077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10496861	chr2:141689077-141689078	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs4387725	chr2:141689085-141689086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10166782	chr2:141689095-141689096	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs142187959	chr2:141689153-141689154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs544071297	chr2:141689156-141689157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189227196	chr2:141689189-141689190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533038155	chr2:141689204-141689205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546504767	chr2:141689227-141689228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559690886	chr2:141689252-141689253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548620074	chr2:141689256-141689257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs10496862	chr2:141689258-141689259	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs548604519	chr2:141689259-141689260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs193096187	chr2:141689263-141689264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs537992950	chr2:141689289-141689290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550180610	chr2:141689376-141689377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550848717	chr2:141689411-141689412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs5834789	chr2:141689412-141689413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532869474	chr2:141689496-141689497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs72990163	chr2:141689570-141689571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555940742	chr2:141689597-141689598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1346639	chr2:141689619-141689620	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs151273320	chr2:141689712-141689713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Bipolar disorder	19114987	CNVD
Esophageal cancer	21851588	CNVD
Ovarian cancer	21720365	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:141686800-141691800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr2:141688400-141688600	Enhancers	Brain Germinal Matrix	brain
3	chr2:141688800-141689000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:141689000-141692000	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr2:141690200-141690400	Active TSS	Aorta	Aorta
6	chr2:141690400-141692000	Weak transcription	Aorta	Aorta
7	chr2:141691800-141692200	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr2:141691800-141692400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr2:141692000-141692400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr2:141692000-141692400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr2:141692000-141692400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr2:141692000-141692400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr2:141692000-141692400	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr2:141692000-141692400	ZNF genes & repeats	Aorta	Aorta
15	chr2:141692000-141692600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:141700800-141701600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr2:141701000-141701600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr2:141701200-141701400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr2:141701200-141701800	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr2:141701200-141702000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr2:141701400-141701800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr2:141705400-141705800	Enhancers	Fetal Brain Female	brain
23	chr2:141709200-141710400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr2:141709400-141709800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr2:141709400-141710000	Enhancers	H9 Cell Line	embryonic stem cell
26	chr2:141719600-141721400	Enhancers	Dnd41	blood
27	chr2:141719600-141722000	Weak transcription	Brain Angular Gyrus	brain

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