Variant report

Variant	nsv963220
Chromosome Location	chr2:33860909-33862757
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	CTCF	chr2:33861400-33861550	AG04450	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:33862671..33864955-chr2:33868719..33871401,2	K562	blood:

Variant related genes	Relation type
HNRNPA1P61	TF binding region

Extended variants
information (count: 82 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200678375	chr2:33860946-33860947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs567300485	chr2:33860969-33860970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369319216	chr2:33860988-33860989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10210466	chr2:33861041-33861042	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs147118760	chr2:33861087-33861088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs569823346	chr2:33861093-33861094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538827114	chr2:33861105-33861106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs6543728	chr2:33861158-33861159	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs115005456	chr2:33861188-33861189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs578078536	chr2:33861217-33861218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372425912	chr2:33861232-33861233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540404576	chr2:33861266-33861267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs79558903	chr2:33861292-33861293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10200581	chr2:33861293-33861294	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs555703586	chr2:33861294-33861295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192579991	chr2:33861317-33861318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562845979	chr2:33861349-33861350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs13421445	chr2:33861378-33861379	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs545599845	chr2:33861423-33861424	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs565374009	chr2:33861445-33861446	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs185427847	chr2:33861489-33861490	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs547563735	chr2:33861498-33861499	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs529140330	chr2:33861503-33861504	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs540042005	chr2:33861530-33861531	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs386644612	chr2:33861531-33861532	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs60013870	chr2:33861533-33861534	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs141965791	chr2:33861557-33861558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs55836406	chr2:33861561-33861562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552332045	chr2:33861577-33861578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs565763413	chr2:33861598-33861599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150077814	chr2:33861599-33861600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553887855	chr2:33861621-33861622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573573391	chr2:33861629-33861630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188998266	chr2:33861683-33861684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536268993	chr2:33861739-33861740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs556406376	chr2:33861761-33861762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576660287	chr2:33861797-33861798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs116449111	chr2:33861824-33861825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs62150508	chr2:33861925-33861926	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs572594891	chr2:33861926-33861927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs372588116	chr2:33861937-33861938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs192445232	chr2:33861951-33861952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs149270603	chr2:33861963-33861964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529682844	chr2:33861983-33861984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs184473752	chr2:33862005-33862006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs374801633	chr2:33862029-33862030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs563169884	chr2:33862040-33862041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551382674	chr2:33862072-33862073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532412438	chr2:33862111-33862112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112949435	chr2:33862157-33862158	Weak transcription Enhancers	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
Acute lymphoblastic leukemia	18458336	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33859800-33862000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr2:33860000-33862200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr2:33860400-33862800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:33860400-33862800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:33860600-33861600	Enhancers	Fetal Heart	heart
6	chr2:33860600-33862200	Enhancers	Primary hematopoietic stem cells	blood
7	chr2:33860600-33863200	Enhancers	Primary hematopoietic stem cells short term culture	blood

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