Variant report

Variant	esv3354343
Chromosome Location	chr2:34922648-34926846
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr2:34924385-34924462	NB4	blood:	n/a	chr2:34924443-34924453
2	POLR2A	chr2:34926074-34926204	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000272027	TF binding region
ENSG00000228262	TF binding region

Extended variants
information (count: 325 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:325 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560608931	chr2:34922673-34922674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574176535	chr2:34922674-34922675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115628161	chr2:34922699-34922700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372200812	chr2:34922705-34922706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562686386	chr2:34922739-34922740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531368971	chr2:34922748-34922749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142672839	chr2:34922762-34922763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147355434	chr2:34922766-34922767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139501003	chr2:34922798-34922799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs544212071	chr2:34922801-34922802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562320528	chr2:34922804-34922805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577324198	chr2:34922817-34922818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527330025	chr2:34922836-34922837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs113128204	chr2:34922840-34922841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182838439	chr2:34922846-34922847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529782377	chr2:34922851-34922852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549577907	chr2:34922869-34922870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569457365	chr2:34922931-34922932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538007823	chr2:34922934-34922935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558498249	chr2:34922936-34922937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571961041	chr2:34922938-34922939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185664517	chr2:34922951-34922952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554185184	chr2:34922969-34922970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs13011970	chr2:34922973-34922974	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs13012333	chr2:34922979-34922980	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs13011806	chr2:34922991-34922992	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs112255977	chr2:34922992-34922993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6751154	chr2:34923003-34923004	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs544832937	chr2:34923014-34923015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190085173	chr2:34923026-34923027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs564886243	chr2:34923040-34923041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527562514	chr2:34923050-34923051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540661883	chr2:34923055-34923056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148659703	chr2:34923081-34923082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183441106	chr2:34923108-34923109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142173603	chr2:34923115-34923116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549852768	chr2:34923131-34923132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569609776	chr2:34923132-34923133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs188555175	chr2:34923146-34923147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs550152097	chr2:34923172-34923173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571507638	chr2:34923207-34923208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs193115554	chr2:34923219-34923220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534479677	chr2:34923257-34923258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6739366	chr2:34923268-34923269	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs6754405	chr2:34923293-34923294	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs372937308	chr2:34923296-34923297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556625524	chr2:34923299-34923300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34653060	chr2:34923310-34923311	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs373771463	chr2:34923321-34923322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143544474	chr2:34923329-34923330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:34919600-34926000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:34926000-34926400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:34926000-34926400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:34926200-34926600	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr2:34926400-34927800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:34926400-34957600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:34926600-34927800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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