Variant report

Variant	esv3356161
Chromosome Location	chr2:125728082-125729380
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371083270	chr2:125728086-125728087	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs116594867	chr2:125728176-125728177	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs77399784	chr2:125728245-125728246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185104120	chr2:125728254-125728255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546889048	chr2:125728257-125728258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544323350	chr2:125728288-125728289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138383283	chr2:125728290-125728291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532106282	chr2:125728341-125728342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs35470156	chr2:125728500-125728501	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148839946	chr2:125728522-125728523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs143493571	chr2:125728546-125728547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs537524489	chr2:125728569-125728570	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527900805	chr2:125728615-125728616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148020413	chr2:125728678-125728679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568284378	chr2:125728723-125728724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370533770	chr2:125728732-125728733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs398104690	chr2:125728733-125728734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs397838213	chr2:125728751-125728752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12988545	chr2:125728763-125728764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11123070	chr2:125728765-125728766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577110508	chr2:125728780-125728781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12988000	chr2:125728783-125728784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182204077	chr2:125728800-125728801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187234523	chr2:125728807-125728808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4567939	chr2:125728820-125728821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs576515537	chr2:125728835-125728836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188312629	chr2:125728840-125728841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369762595	chr2:125728845-125728846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561065414	chr2:125728855-125728856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146369079	chr2:125728866-125728867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540548007	chr2:125728887-125728888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560473773	chr2:125728918-125728919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532282376	chr2:125729003-125729004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs58462647	chr2:125729032-125729033	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs10165689	chr2:125729038-125729039	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs531442772	chr2:125729041-125729042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532121810	chr2:125729068-125729069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10189275	chr2:125729106-125729107	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs117189235	chr2:125729117-125729118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138462797	chr2:125729140-125729141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6705914	chr2:125729145-125729146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570859270	chr2:125729150-125729151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539735658	chr2:125729155-125729156	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556531406	chr2:125729182-125729183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576311789	chr2:125729212-125729213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542330791	chr2:125729293-125729294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538154499	chr2:125729369-125729370	Enhancers Weak transcription	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
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Lung cancer	18438408	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Medulloblastoma	16968546	CNVD
Neurocytoma	17123091	CNVD
Developmental delay	21147756	CNVD
Bladder cancer	21909424	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:125726400-125729400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr2:125726600-125728200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:125727200-125728200	Enhancers	Brain Angular Gyrus	brain
4	chr2:125727400-125728200	Flanking Active TSS	Brain Hippocampus Middle	brain
5	chr2:125727400-125728200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
6	chr2:125727600-125728200	Flanking Active TSS	Brain Cingulate Gyrus	brain
7	chr2:125727600-125728200	Flanking Active TSS	Brain Substantia Nigra	brain
8	chr2:125728000-125732800	Weak transcription	Brain Anterior Caudate	brain
9	chr2:125728200-125728400	Enhancers	Brain Cingulate Gyrus	brain
10	chr2:125728200-125729000	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr2:125728200-125732600	Weak transcription	Brain Hippocampus Middle	brain
12	chr2:125728200-125732600	Weak transcription	Brain Substantia Nigra	brain
13	chr2:125728400-125732600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr2:125729000-125732800	Weak transcription	Brain Inferior Temporal Lobe	brain

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