Variant report

Variant	esv12584
Chromosome Location	chr2:125299676-125300477
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537744150	chr2:125299677-125299678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs557353071	chr2:125299706-125299707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12466201	chr2:125299743-125299744	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs565813097	chr2:125299760-125299761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189907041	chr2:125299766-125299767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112995504	chr2:125299782-125299783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553446041	chr2:125299784-125299785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181368930	chr2:125299787-125299788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12613738	chr2:125299788-125299789	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs74828825	chr2:125299795-125299796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541184872	chr2:125299805-125299806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs199922184	chr2:125299806-125299807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557688747	chr2:125299832-125299833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186530591	chr2:125299890-125299891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543319638	chr2:125299943-125299944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189091723	chr2:125299956-125299957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573297018	chr2:125299970-125299971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs181385452	chr2:125300052-125300053	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs57368566	chr2:125300084-125300085	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs562308375	chr2:125300141-125300142	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs528198291	chr2:125300155-125300156	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs11123051	chr2:125300196-125300197	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs565489313	chr2:125300209-125300210	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs186260795	chr2:125300210-125300211	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs566481732	chr2:125300267-125300268	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs567989689	chr2:125300272-125300273	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs536633609	chr2:125300292-125300293	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs546691989	chr2:125300307-125300308	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs190773295	chr2:125300342-125300343	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs182902206	chr2:125300345-125300346	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs114353791	chr2:125300355-125300356	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs11888767	chr2:125300372-125300373	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs536891317	chr2:125300373-125300374	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs556823414	chr2:125300377-125300378	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs11888769	chr2:125300391-125300392	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs11888843	chr2:125300397-125300398	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs562827848	chr2:125300404-125300405	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs116412683	chr2:125300405-125300406	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs186079682	chr2:125300438-125300439	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs386650020	chr2:125300455-125300456	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs112774491	chr2:125300456-125300457	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs11899392	chr2:125300457-125300458	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:58)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:125291400-125301400	Weak transcription	Brain Germinal Matrix	brain
2	chr2:125291600-125305800	Weak transcription	Right Atrium	heart
3	chr2:125295200-125300000	Weak transcription	Fetal Stomach	stomach
4	chr2:125296600-125302600	Enhancers	Fetal Heart	heart
5	chr2:125297200-125300000	Enhancers	Stomach Smooth Muscle	stomach
6	chr2:125298200-125300400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:125300000-125300400	Flanking Active TSS	Stomach Smooth Muscle	stomach
8	chr2:125300000-125300600	Active TSS	HSMMtube	muscle
9	chr2:125300000-125301600	Enhancers	Fetal Stomach	stomach
10	chr2:125300400-125300800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr2:125300400-125301000	Active TSS	Stomach Smooth Muscle	stomach
12	chr2:125300400-125301200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:125300400-125301400	Enhancers	Duodenum Smooth Muscle	Duodenum

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