Variant report

Variant	nsv470488
Chromosome Location	chr2:141133405-141170339
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	chr2:141154130..141156710-chr2:141158652..141160326,2	MCF-7	breast:
2	chr2:141154130..141156710-chr2:141158652..141160326,2	MCF-7	breast:

Extended variants
information (count: 1061 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:1061 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs670617	chr2:141133405-141133406	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs562164885	chr2:141133441-141133442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550717413	chr2:141133448-141133449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529662605	chr2:141133539-141133540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs649083	chr2:141133540-141133541	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs569355015	chr2:141133570-141133571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537916516	chr2:141133571-141133572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs150928947	chr2:141133586-141133587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569301972	chr2:141133595-141133596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539875978	chr2:141133596-141133597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560780590	chr2:141133631-141133632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7583997	chr2:141133804-141133805	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs369333686	chr2:141133825-141133826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs138893362	chr2:141133848-141133849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554540612	chr2:141133852-141133853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574366741	chr2:141133876-141133877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183960282	chr2:141133884-141133885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188199222	chr2:141133916-141133917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557678149	chr2:141133937-141133938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576098803	chr2:141134011-141134012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs34022366	chr2:141134017-141134018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544733812	chr2:141134044-141134045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573041531	chr2:141134099-141134100	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527325618	chr2:141134144-141134145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145992437	chr2:141134154-141134155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs577547415	chr2:141134155-141134156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs114463491	chr2:141134179-141134180	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs529909460	chr2:141134184-141134185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549579438	chr2:141134225-141134226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74929309	chr2:141134234-141134235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201038936	chr2:141134246-141134247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534102466	chr2:141134268-141134269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192624108	chr2:141134271-141134272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567673330	chr2:141134438-141134439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs141265606	chr2:141134446-141134447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150839662	chr2:141134498-141134499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529441713	chr2:141134521-141134522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537798346	chr2:141134523-141134524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs372874732	chr2:141134524-141134525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534213756	chr2:141134543-141134544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556246305	chr2:141134544-141134545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577753971	chr2:141134553-141134554	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555732418	chr2:141134647-141134648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552631451	chr2:141134648-141134649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369943650	chr2:141134652-141134653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs202124860	chr2:141134654-141134655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11884337	chr2:141134664-141134665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545093601	chr2:141134707-141134708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536908020	chr2:141134727-141134728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149981634	chr2:141134749-141134750	Enhancers 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
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:141132400-141134200	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr2:141132800-141133800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:141133200-141143200	Weak transcription	Brain Substantia Nigra	brain
4	chr2:141134000-141134600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr2:141134200-141134400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:141134200-141134600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr2:141134600-141135000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:141135000-141142600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:141140200-141141200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:141141000-141141800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:141141200-141141600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:141141200-141142000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:141141600-141141800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:141141800-141142000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:141142600-141142800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:141142800-141151800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:141143200-141143400	Enhancers	Brain Substantia Nigra	brain
18	chr2:141148000-141150600	Enhancers	A549	lung
19	chr2:141149400-141150400	Enhancers	Fetal Intestine Large	intestine
20	chr2:141149400-141150800	Enhancers	HepG2	liver
21	chr2:141149600-141150000	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr2:141149600-141150000	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr2:141149600-141150800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:141150400-141151800	Weak transcription	Fetal Intestine Large	intestine
25	chr2:141150800-141152800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:141151800-141152200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr2:141151800-141152200	Enhancers	Fetal Intestine Large	intestine
28	chr2:141152000-141153000	Enhancers	Fetal Intestine Small	intestine
29	chr2:141152200-141153000	Weak transcription	Fetal Intestine Large	intestine
30	chr2:141152200-141157600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:141152800-141153400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:141153000-141153200	Enhancers	Fetal Intestine Large	intestine
33	chr2:141153200-141159000	Weak transcription	Fetal Intestine Large	intestine
34	chr2:141157600-141159400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:141159000-141159800	Enhancers	Fetal Intestine Large	intestine

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