Variant report

Variant	esv3399314
Chromosome Location	chr2:132991874-133002562
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	chr14:36364915..36365415-chr2:132994676..132995179,2	MCF-7	breast:
2	chr2:132994674..132995196-chrX:58560687..58561212,3	MCF-7	breast:

Extended variants
information (count: 1455 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1455 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200737471	chr2:132991906-132991907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551654822	chr2:132991912-132991913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566608301	chr2:132991914-132991915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs534006745	chr2:132991928-132991929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201442819	chr2:132991957-132991958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555242044	chr2:132991959-132991960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567108420	chr2:132991969-132991970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537590353	chr2:132991976-132991977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555838229	chr2:132991990-132991991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577223687	chr2:132991991-132991992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544639633	chr2:132991998-132991999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs199715794	chr2:132992007-132992008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373568201	chr2:132992023-132992024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572626401	chr2:132992027-132992028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200894330	chr2:132992029-132992030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543281451	chr2:132992041-132992042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368010033	chr2:132992074-132992075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs561497959	chr2:132992082-132992083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531929667	chr2:132992085-132992086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs543979180	chr2:132992086-132992087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201331515	chr2:132992091-132992092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184096956	chr2:132992105-132992106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs199987340	chr2:132992125-132992126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532546157	chr2:132992128-132992129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547439834	chr2:132992131-132992132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200589643	chr2:132992157-132992158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201582126	chr2:132992175-132992176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114611013	chr2:132992206-132992207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs201135786	chr2:132992226-132992227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs202024870	chr2:132992245-132992246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187696069	chr2:132992258-132992259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567171202	chr2:132992262-132992263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537604428	chr2:132992268-132992269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200057594	chr2:132992278-132992279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555852367	chr2:132992291-132992292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201230708	chr2:132992340-132992341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571222701	chr2:132992370-132992371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201936057	chr2:132992376-132992377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574034905	chr2:132992379-132992380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538653617	chr2:132992383-132992384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553518673	chr2:132992421-132992422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs200263688	chr2:132992424-132992425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201002680	chr2:132992439-132992440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571989023	chr2:132992440-132992441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542989875	chr2:132992450-132992451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555297795	chr2:132992454-132992455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576711093	chr2:132992476-132992477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs202130952	chr2:132992484-132992485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192368013	chr2:132992498-132992499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200545940	chr2:132992526-132992527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	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
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Developmental delay	21147756	CNVD
Mental retardation	17621639	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21509527	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Mental retardation	17124404	CNVD
Colorectal cancer	20459617	CNVD
Neuroticism	17667963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:285 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:132976800-132996200	Weak transcription	NHEK	skin
2	chr2:132984000-132994800	Weak transcription	K562	blood
3	chr2:132987200-132995000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr2:132987800-132994800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:132988000-132996200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr2:132988200-132994800	Weak transcription	Dnd41	blood
7	chr2:132988200-132994800	Weak transcription	GM12878-XiMat	blood
8	chr2:132988200-132994800	Weak transcription	HSMMtube	muscle
9	chr2:132988200-132994800	Weak transcription	NH-A	brain
10	chr2:132988200-132994800	Weak transcription	Osteobl	bone
11	chr2:132988400-132994800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr2:132988400-132994800	Weak transcription	HUVEC	blood vessel
13	chr2:132989000-132994800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:132994400-132994800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr2:132994800-132995200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:132994800-132995200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:132994800-132995200	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
18	chr2:132994800-132995200	ZNF genes & repeats	Left Ventricle	heart
19	chr2:132994800-132995200	ZNF genes & repeats	Dnd41	blood
20	chr2:132994800-132995200	ZNF genes & repeats	GM12878-XiMat	blood
21	chr2:132994800-132995200	Active TSS	Hela-S3	cervix
22	chr2:132994800-132995200	ZNF genes & repeats	HSMMtube	muscle
23	chr2:132994800-132995200	ZNF genes & repeats	HUVEC	blood vessel
24	chr2:132994800-132995200	ZNF genes & repeats	K562	blood
25	chr2:132994800-132995200	ZNF genes & repeats	NH-A	brain
26	chr2:132994800-132995200	ZNF genes & repeats	Osteobl	bone
27	chr2:132994800-132995400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr2:132994800-132995400	ZNF genes & repeats	HepG2	liver
29	chr2:132994800-132995400	ZNF genes & repeats	HMEC	breast
30	chr2:132994800-132997800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
31	chr2:132994800-133000800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
32	chr2:132994800-133008800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
33	chr2:132994800-133009800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:132995000-132995200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr2:132995000-132995200	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
36	chr2:132995000-132995200	Enhancers	NHLF	lung
37	chr2:132995000-133005000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
38	chr2:132995200-132996200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:132995200-132996200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:132995200-132996200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr2:132995200-132996200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr2:132995200-132996200	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr2:132995200-132996200	Weak transcription	Left Ventricle	heart
44	chr2:132995200-132996200	Weak transcription	Dnd41	blood
45	chr2:132995200-132996200	Weak transcription	GM12878-XiMat	blood
46	chr2:132995200-132996200	Weak transcription	Hela-S3	cervix
47	chr2:132995200-132996200	Weak transcription	HSMMtube	muscle
48	chr2:132995200-132996200	Weak transcription	HUVEC	blood vessel
49	chr2:132995200-132996200	Weak transcription	K562	blood
50	chr2:132995200-132996200	Weak transcription	NH-A	brain

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