Variant report

Variant	esv3407110
Chromosome Location	chr2:133149582-133154180
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	chr2:133152507..133155415-chr2:133160169..133163042,2	MCF-7	breast:
2	chr2:133153165..133154899-chr2:133171288..133174191,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183840	chromatin interactions

Extended variants
information (count: 295 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:295 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139496428	chr2:133149612-133149613	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs563815648	chr2:133149618-133149619	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115416412	chr2:133149702-133149703	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182386465	chr2:133149737-133149738	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs368030655	chr2:133149738-133149739	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187877341	chr2:133149746-133149747	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528441456	chr2:133149764-133149765	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111576686	chr2:133149793-133149794	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559364791	chr2:133149824-133149825	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs116901707	chr2:133149825-133149826	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs555179378	chr2:133149881-133149882	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs191166201	chr2:133149901-133149902	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs569465017	chr2:133149929-133149930	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs63500360	chr2:133149969-133149970	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs530541932	chr2:133149976-133149977	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs3035100	chr2:133149982-133149983	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs397985918	chr2:133149983-133149984	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs147758738	chr2:133150033-133150034	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs375326696	chr2:133150080-133150081	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs142667244	chr2:133150112-133150113	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs35370946	chr2:133150132-133150133	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs376548713	chr2:133150139-133150140	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs548736170	chr2:133150157-133150158	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs534299048	chr2:133150158-133150159	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs144916663	chr2:133150182-133150183	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs568652188	chr2:133150199-133150200	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs536107473	chr2:133150203-133150204	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145831723	chr2:133150267-133150268	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575882407	chr2:133150301-133150302	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4473440	chr2:133150319-133150320	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs553511332	chr2:133150323-133150324	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566413391	chr2:133150334-133150335	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs558268448	chr2:133150347-133150348	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552980692	chr2:133150367-133150368	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375486750	chr2:133150382-133150383	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573219616	chr2:133150419-133150420	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs370155260	chr2:133150452-133150453	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540265617	chr2:133150458-133150459	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182673824	chr2:133150467-133150468	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529947455	chr2:133150498-133150499	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541693520	chr2:133150503-133150504	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116331260	chr2:133150523-133150524	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372622994	chr2:133150530-133150531	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577469248	chr2:133150574-133150575	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571926757	chr2:133150584-133150585	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570449202	chr2:133150651-133150652	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115732864	chr2:133150661-133150662	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546289330	chr2:133150667-133150668	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568005409	chr2:133150723-133150724	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551842815	chr2:133150737-133150738	Enhancers Bivalent Enhancer Weak transcription	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
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
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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133142400-133150000	Weak transcription	Fetal Muscle Leg	muscle
2	chr2:133148400-133151000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr2:133148600-133149800	Enhancers	Lung	lung
4	chr2:133148800-133149800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:133148800-133149800	Enhancers	Spleen	Spleen
6	chr2:133149000-133149600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:133149000-133150000	Enhancers	Adipose Nuclei	Adipose
8	chr2:133149000-133150800	Enhancers	HSMMtube	muscle
9	chr2:133149200-133150600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr2:133149200-133150600	Enhancers	H1 Cell Line	embryonic stem cell
11	chr2:133149200-133150600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:133149200-133150600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
13	chr2:133149200-133150600	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr2:133149200-133150800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr2:133149200-133153000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:133149400-133149800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:133149400-133150400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
18	chr2:133149400-133150800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
19	chr2:133149400-133151200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:133149600-133150200	Enhancers	H9 Cell Line	embryonic stem cell
21	chr2:133149600-133150400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr2:133149600-133150400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr2:133149600-133150400	Enhancers	HSMM	muscle
24	chr2:133149800-133150200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:133149800-133150600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr2:133149800-133151200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr2:133149800-133151200	Enhancers	Fetal Brain Male	brain
28	chr2:133150000-133150200	Enhancers	Fetal Muscle Leg	muscle
29	chr2:133150000-133150400	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr2:133150000-133150800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:133150200-133150600	Enhancers	Fetal Brain Female	brain
32	chr2:133150200-133151400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:133150400-133151000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr2:133150400-133151000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr2:133151000-133151200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr2:133151000-133151200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
37	chr2:133151200-133151400	Enhancers	Right Ventricle	heart
38	chr2:133151400-133160600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:133153000-133153200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr2:133153200-133154800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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