Variant report

Variant	esv13274
Chromosome Location	chr2:125639339-125645009
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 210 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:210 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs72963886	chr2:125639340-125639341	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs117897318	chr2:125639359-125639360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572728927	chr2:125639361-125639362	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369785970	chr2:125639394-125639395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189964677	chr2:125639424-125639425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142608092	chr2:125639434-125639435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs180809594	chr2:125639442-125639443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146904667	chr2:125639460-125639461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561141156	chr2:125639462-125639463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574831454	chr2:125639504-125639505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547101850	chr2:125639551-125639552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560514239	chr2:125639613-125639614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532551660	chr2:125639635-125639636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186744310	chr2:125639649-125639650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532370622	chr2:125639661-125639662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557510225	chr2:125639717-125639718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs138990755	chr2:125639733-125639734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs141409135	chr2:125639787-125639788	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575612871	chr2:125639828-125639829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs373251080	chr2:125639832-125639833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552560991	chr2:125639881-125639882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs550835387	chr2:125639922-125639923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs79556189	chr2:125639923-125639924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs76262980	chr2:125639924-125639925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs190985987	chr2:125639926-125639927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566477126	chr2:125639945-125639946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183710118	chr2:125640043-125640044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558622886	chr2:125640057-125640058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs117335413	chr2:125640088-125640089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537766532	chr2:125640114-125640115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554774807	chr2:125640132-125640133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs72848783	chr2:125640139-125640140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574668577	chr2:125640146-125640147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540542390	chr2:125640198-125640199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560584969	chr2:125640228-125640229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577174405	chr2:125640236-125640237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545927337	chr2:125640246-125640247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562891669	chr2:125640264-125640265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2602653	chr2:125640289-125640290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548681008	chr2:125640382-125640383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548521086	chr2:125640392-125640393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568618740	chr2:125640410-125640411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs533683828	chr2:125640447-125640448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561088906	chr2:125640498-125640499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529879836	chr2:125640504-125640505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546924021	chr2:125640547-125640548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553440146	chr2:125640553-125640554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566602405	chr2:125640577-125640578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532433795	chr2:125640611-125640612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs61340026	chr2:125640648-125640649	Weak transcription	n/a	n/a	Overlapped CNVs	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
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:125636000-125641600	Weak transcription	Fetal Lung	lung
2	chr2:125637200-125639400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:125639000-125639400	Weak transcription	Pancreas	Pancrea
4	chr2:125639200-125641600	Weak transcription	Fetal Heart	heart
5	chr2:125639400-125640000	Enhancers	Pancreas	Pancrea
6	chr2:125641400-125642000	ZNF genes & repeats	Fetal Brain Male	brain
7	chr2:125641600-125641800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:125641600-125642000	Enhancers	Fetal Heart	heart
9	chr2:125641600-125642400	Enhancers	Fetal Lung	lung
10	chr2:125641800-125642600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:125642400-125643600	Weak transcription	Fetal Lung	lung
12	chr2:125643600-125644800	Enhancers	Fetal Lung	lung

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