Variant report

Variant	esv3441058
Chromosome Location	chr2:133249107-133251655
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	POLR2A	chr2:133249333-133249435	Gliobla	brain:	n/a	n/a
2	POLR2A	chr2:133249100-133249235	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
YBX1P7	TF binding region

Extended variants
information (count: 178 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:178 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556930552	chr2:133249155-133249156	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs577541908	chr2:133249196-133249197	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs370398495	chr2:133249260-133249261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs13001535	chr2:133249282-133249283	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs559956293	chr2:133249302-133249303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572113668	chr2:133249332-133249333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112722041	chr2:133249386-133249387	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs115334538	chr2:133249413-133249414	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs111433988	chr2:133249483-133249484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115719461	chr2:133249515-133249516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576372014	chr2:133249568-133249569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547782847	chr2:133249576-133249577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549651207	chr2:133249582-133249583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565214259	chr2:133249593-133249594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543695288	chr2:133249594-133249595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201511865	chr2:133249616-133249617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375561947	chr2:133249663-133249664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566414374	chr2:133249672-133249673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533146561	chr2:133249709-133249710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188595928	chr2:133249719-133249720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs193300081	chr2:133249742-133249743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144694351	chr2:133249745-133249746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549537746	chr2:133249748-133249749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533596851	chr2:133249764-133249765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182539203	chr2:133249774-133249775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188014147	chr2:133249777-133249778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368189805	chr2:133249778-133249779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs578205976	chr2:133249788-133249789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191708115	chr2:133249803-133249804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184061211	chr2:133249809-133249810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567053667	chr2:133249814-133249815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553729448	chr2:133249815-133249816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372115225	chr2:133249822-133249823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs35405726	chr2:133249829-133249830	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs187226222	chr2:133249837-133249838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111214633	chr2:133249846-133249847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376763306	chr2:133249856-133249857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111214940	chr2:133249859-133249860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555913974	chr2:133249883-133249884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs368908756	chr2:133249884-133249885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577779121	chr2:133249908-133249909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191985910	chr2:133249927-133249928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373158567	chr2:133249936-133249937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552961040	chr2:133249938-133249939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538886848	chr2:133249970-133249971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543236307	chr2:133249980-133249981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555201759	chr2:133249986-133249987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs564998917	chr2:133249992-133249993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532448013	chr2:133249996-133249997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545029331	chr2:133250005-133250006	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133233600-133261000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:133245000-133256200	Weak transcription	A549	lung
3	chr2:133248400-133249400	Enhancers	Duodenum Mucosa	Duodenum
4	chr2:133249200-133249400	Enhancers	Brain Hippocampus Middle	brain
5	chr2:133251400-133252400	Enhancers	Fetal Heart	heart

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