Variant report

Variant	esv3500905
Chromosome Location	chr2:127718232-127723330
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 100 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116000489	chr2:127720436-127720437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553758080	chr2:127720438-127720439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183250487	chr2:127720446-127720447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs1828404	chr2:127720474-127720475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs114310267	chr2:127720494-127720495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150943340	chr2:127720500-127720501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529682097	chr2:127720531-127720532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs375438336	chr2:127720540-127720541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539959936	chr2:127720621-127720622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567160990	chr2:127720651-127720652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561350370	chr2:127720703-127720704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530238615	chr2:127720741-127720742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186532470	chr2:127720748-127720749	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566896539	chr2:127720807-127720808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532653805	chr2:127720816-127720817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs560145922	chr2:127720821-127720822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150121987	chr2:127720822-127720823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542258548	chr2:127720839-127720840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569079697	chr2:127720845-127720846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs538064039	chr2:127720944-127720945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528700386	chr2:127720962-127720963	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs113250118	chr2:127720984-127720985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568042362	chr2:127720994-127720995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533935971	chr2:127721027-127721028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553479895	chr2:127721083-127721084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1912498	chr2:127721107-127721108	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs113501944	chr2:127721189-127721190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs556522189	chr2:127721288-127721289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369373591	chr2:127721321-127721322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539076574	chr2:127721323-127721324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542021827	chr2:127721324-127721325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs138428537	chr2:127721400-127721401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530125596	chr2:127721402-127721403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142553707	chr2:127721403-127721404	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs146684135	chr2:127721436-127721437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs139355136	chr2:127721437-127721438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs116305025	chr2:127721448-127721449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs535637244	chr2:127721463-127721464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189669936	chr2:127721489-127721490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531911886	chr2:127721504-127721505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs73956195	chr2:127721519-127721520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568678311	chr2:127721541-127721542	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182335414	chr2:127721555-127721556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs553837530	chr2:127721576-127721577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs112547877	chr2:127721614-127721615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539457261	chr2:127721616-127721617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs552685106	chr2:127721640-127721641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs80343594	chr2:127721648-127721649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576399389	chr2:127721660-127721661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs187754462	chr2:127721670-127721671	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127720400-127722000	Enhancers	Fetal Muscle Leg	muscle
2	chr2:127720600-127721600	Enhancers	Skeletal Muscle Female	skeletal muscle
3	chr2:127720600-127722000	Enhancers	Fetal Muscle Trunk	muscle
4	chr2:127720800-127721600	Enhancers	Placenta	Placenta
5	chr2:127720800-127722000	Enhancers	HSMMtube	muscle
6	chr2:127721000-127721400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:127721000-127721400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:127721200-127721600	Enhancers	Brain Angular Gyrus	brain
9	chr2:127722000-127724200	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:127722000-127727200	Weak transcription	Fetal Muscle Trunk	muscle

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