Variant report

Variant	esv3384138
Chromosome Location	chr2:133938269-133971462
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:133953064..133954873-chr2:134023809..134025378,2	MCF-7	breast:
2	chr2:133426638..133429342-chr2:133954852..133957761,2	MCF-7	breast:
3	chr2:133932748..133934866-chr2:133936195..133938875,2	MCF-7	breast:
4	chr2:133969380..133971037-chr2:133972484..133974149,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000226953	chromatin interactions
ENSG00000150551	chromatin interactions

Extended variants
information (count: 1127 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1127 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567532711	chr2:133938310-133938311	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs538004851	chr2:133938326-133938327	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs115040278	chr2:133938346-133938347	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs186681537	chr2:133938349-133938350	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs547532515	chr2:133938390-133938391	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs150970329	chr2:133938393-133938394	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs534762815	chr2:133938424-133938425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191500004	chr2:133938448-133938449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558145094	chr2:133938456-133938457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572151950	chr2:133938467-133938468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536343875	chr2:133938486-133938487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554663743	chr2:133938493-133938494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35971232	chr2:133938523-133938524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201564731	chr2:133938524-133938525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs569217703	chr2:133943610-133943611	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs540057970	chr2:133943664-133943665	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs184977199	chr2:133943675-133943676	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs190332834	chr2:133943703-133943704	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs575774357	chr2:133943711-133943712	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs534231040	chr2:133943739-133943740	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs35959114	chr2:133943771-133943772	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs555594341	chr2:133943782-133943783	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs181778267	chr2:133943790-133943791	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs1836220	chr2:133943792-133943793	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs556259818	chr2:133943812-133943813	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs577644693	chr2:133943826-133943827	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs545238008	chr2:133943865-133943866	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs62177494	chr2:133943888-133943889	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs35413941	chr2:133943904-133943905	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs34207197	chr2:133943923-133943924	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs542943663	chr2:133943959-133943960	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs186415950	chr2:133943974-133943975	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs529319478	chr2:133943975-133943976	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs550683581	chr2:133943981-133943982	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs563027173	chr2:133943982-133943983	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs533263685	chr2:133943998-133943999	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs551811649	chr2:133944000-133944001	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs576766906	chr2:133944005-133944006	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs536946491	chr2:133944022-133944023	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs113649324	chr2:133944030-133944031	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs189639776	chr2:133944067-133944068	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs56142292	chr2:133944077-133944078	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs549283496	chr2:133944092-133944093	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs567605125	chr2:133944108-133944109	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs549034302	chr2:133944132-133944133	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs555886125	chr2:133944151-133944152	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs553746329	chr2:133944157-133944158	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs577710639	chr2:133944174-133944175	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs558932059	chr2:133944185-133944186	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs78908828	chr2:133944199-133944200	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Mental retardation	17124404	CNVD
Colorectal cancer	20459617	CNVD
Neuroticism	17667963	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133935800-133938600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:133937600-133938400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:133943600-133946000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:133946000-133949000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:133949600-133951000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:133950200-133950800	Enhancers	Liver	Liver
7	chr2:133950800-133951000	Flanking Active TSS	A549	lung
8	chr2:133950800-133952600	Flanking Active TSS	Liver	Liver
9	chr2:133951000-133951600	Enhancers	A549	lung
10	chr2:133951000-133954000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:133951600-133951800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:133951600-133952200	Flanking Active TSS	A549	lung
13	chr2:133951800-133952000	Enhancers	NHLF	lung
14	chr2:133951800-133952200	Enhancers	HUVEC	blood vessel
15	chr2:133951800-133952200	Enhancers	NHDF-Ad	bronchial
16	chr2:133952000-133952800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:133952000-133956400	Weak transcription	NHLF	lung
18	chr2:133952200-133952400	Enhancers	A549	lung
19	chr2:133952200-133956600	Weak transcription	NHDF-Ad	bronchial
20	chr2:133952200-133957000	Weak transcription	HUVEC	blood vessel
21	chr2:133952400-133953200	Flanking Active TSS	A549	lung
22	chr2:133952600-133953200	Enhancers	Liver	Liver
23	chr2:133952800-133954200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:133953200-133954400	Weak transcription	Liver	Liver
25	chr2:133953200-133954800	Weak transcription	A549	lung
26	chr2:133954000-133955000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:133954000-133955200	Enhancers	HMEC	breast
28	chr2:133954200-133954600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:133954200-133955000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr2:133954200-133955000	Enhancers	NHEK	skin
31	chr2:133954400-133955000	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr2:133954400-133955200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:133954400-133959000	Enhancers	Liver	Liver
34	chr2:133954600-133955000	Enhancers	Hela-S3	cervix
35	chr2:133954600-133955600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:133954600-133964400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr2:133954800-133955000	Enhancers	A549	lung
38	chr2:133955000-133956000	Weak transcription	A549	lung
39	chr2:133955000-133957400	Weak transcription	Hela-S3	cervix
40	chr2:133955000-133958000	Weak transcription	NHEK	skin
41	chr2:133955000-133958400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:133955000-133972200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:133955200-133958200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr2:133955200-133958200	Weak transcription	HMEC	breast
45	chr2:133955600-133955800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:133955600-133955800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:133955800-133956400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:133955800-133956400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:133956000-133956200	Enhancers	A549	lung
50	chr2:133956000-133956600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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