Variant report

Variant	esv3458358
Chromosome Location	chr2:134423343-134426410
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	chr2:134425826..134428280-chr2:134430493..134432973,2	MCF-7	breast:

Extended variants
information (count: 98 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:98 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538834549	chr2:134423374-134423375	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192122404	chr2:134423420-134423421	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs563344863	chr2:134423431-134423432	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs13385871	chr2:134423443-134423444	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs375440049	chr2:134423469-134423470	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565254561	chr2:134423560-134423561	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532588451	chr2:134423592-134423593	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374220029	chr2:134423593-134423594	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548102772	chr2:134423622-134423623	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554495488	chr2:134423626-134423627	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560043595	chr2:134423729-134423730	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12994343	chr2:134423758-134423759	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530332726	chr2:134423829-134423830	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548723638	chr2:134423832-134423833	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570171334	chr2:134423836-134423837	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs55786761	chr2:134423872-134423873	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs184168415	chr2:134423893-134423894	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7596171	chr2:134423924-134423925	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs570103338	chr2:134423929-134423930	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142848854	chr2:134423969-134423970	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577417356	chr2:134423979-134423980	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552696427	chr2:134423980-134423981	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574632667	chr2:134423997-134423998	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188358711	chr2:134424020-134424021	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6430439	chr2:134424021-134424022	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs573800358	chr2:134424028-134424029	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562991153	chr2:134424058-134424059	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115338557	chr2:134424065-134424066	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565422368	chr2:134424128-134424129	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577308439	chr2:134424157-134424158	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541391852	chr2:134424261-134424262	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559498868	chr2:134424267-134424268	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149796384	chr2:134424273-134424274	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs193291382	chr2:134424299-134424300	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542180310	chr2:134424300-134424301	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563885753	chr2:134424357-134424358	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546456098	chr2:134424422-134424423	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551852015	chr2:134424436-134424437	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562550735	chr2:134424460-134424461	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570163720	chr2:134424485-134424486	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528181827	chr2:134424488-134424489	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546538842	chr2:134424504-134424505	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533210652	chr2:134424533-134424534	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201103782	chr2:134424541-134424542	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567982216	chr2:134424628-134424629	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs4347888	chr2:134424634-134424635	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs542184942	chr2:134424686-134424687	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs185478291	chr2:134424708-134424709	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs60998215	chr2:134424719-134424720	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs371400159	chr2:134424735-134424736	ZNF genes & repeats Enhancers	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
Bipolar disorder	19114987	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:134411200-134429800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:134416600-134424400	Weak transcription	NH-A	brain
3	chr2:134423800-134424600	Weak transcription	NHLF	lung
4	chr2:134424000-134425400	Enhancers	HUVEC	blood vessel
5	chr2:134424400-134424800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:134424400-134424800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:134424400-134425000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:134424400-134425200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:134424400-134425200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:134424400-134425200	Enhancers	NHDF-Ad	bronchial
11	chr2:134424400-134425200	Enhancers	Osteobl	bone
12	chr2:134424400-134425400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr2:134424400-134425600	Enhancers	NH-A	brain
14	chr2:134424600-134425200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:134424600-134425200	Enhancers	HMEC	breast
16	chr2:134424600-134425200	Enhancers	NHEK	skin
17	chr2:134424600-134425200	Enhancers	NHLF	lung
18	chr2:134424800-134425000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:134424800-134425200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:134425000-134427200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:134425200-134431800	Weak transcription	HMEC	breast
22	chr2:134425200-134432000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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