Variant report

Variant	esv3372543
Chromosome Location	chr2:127636935-127637435
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 56 )

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	rs13005517	chr2:127636939-127636940	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs13015500	chr2:127636944-127636945	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs534564651	chr2:127636949-127636950	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs371374905	chr2:127636952-127636953	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs13035822	chr2:127636967-127636968	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs149321385	chr2:127636968-127636969	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs13005684	chr2:127636969-127636970	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs570953337	chr2:127636982-127636983	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs13021651	chr2:127636999-127637000	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs536934697	chr2:127637003-127637004	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs13035842	chr2:127637004-127637005	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs13015692	chr2:127637014-127637015	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs556868264	chr2:127637016-127637017	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs13035858	chr2:127637029-127637030	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs375940956	chr2:127637065-127637066	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs536063687	chr2:127637073-127637074	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs13005915	chr2:127637089-127637090	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs555782023	chr2:127637104-127637105	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs190703794	chr2:127637110-127637111	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
20	rs13021877	chr2:127637119-127637120	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
21	rs13036072	chr2:127637127-127637128	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
22	rs13036073	chr2:127637128-127637129	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
23	rs539741030	chr2:127637150-127637151	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
24	rs537136584	chr2:127637151-127637152	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
25	rs572442652	chr2:127637190-127637191	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
26	rs541553533	chr2:127637205-127637206	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564457102	chr2:127637208-127637209	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs578090762	chr2:127637238-127637239	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541228044	chr2:127637263-127637264	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs545712178	chr2:127637280-127637281	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111944092	chr2:127637282-127637283	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs66866663	chr2:127637283-127637284	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs70985429	chr2:127637288-127637289	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs111938524	chr2:127637289-127637290	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77245697	chr2:127637293-127637294	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs72837139	chr2:127637335-127637336	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549314939	chr2:127637363-127637364	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559944961	chr2:127637366-127637367	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs140965476	chr2:127637370-127637371	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528166495	chr2:127637371-127637372	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs183043981	chr2:127637387-127637388	Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs570891983	chr2:127637422-127637423	Enhancers ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530449432	chr2:127637430-127637431	Enhancers ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550417405	chr2:127637431-127637432	Enhancers ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs116608835	chr2:127637432-127637433	Enhancers ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75514175	chr2:127637433-127637434	Enhancers ZNF genes & repeats Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs71881052	chr2:127637434-127637435	Enhancers ZNF genes & repeats Active TSS Weak transcription	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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:127634600-127637000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:127634800-127637200	Weak transcription	Gastric	stomach
3	chr2:127634800-127637400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr2:127636000-127637000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:127636400-127643800	Weak transcription	Right Atrium	heart
6	chr2:127636600-127637200	ZNF genes & repeats	Pancreas	Pancrea
7	chr2:127636800-127637600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
8	chr2:127636800-127637600	ZNF genes & repeats	Fetal Kidney	kidney
9	chr2:127636800-127637800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:127636800-127637800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:127637000-127637400	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr2:127637000-127637600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:127637200-127637600	Active TSS	Fetal Lung	lung
14	chr2:127637200-127637600	Enhancers	Gastric	stomach
15	chr2:127637400-127637600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:127637400-127638400	Enhancers	H1 Cell Line	embryonic stem cell

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