Variant report

Variant	esv3426054
Chromosome Location	chr2:127635782-127638880
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 159 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:159 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531690919	chr2:127635859-127635860	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541963264	chr2:127635877-127635878	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs114447509	chr2:127635879-127635880	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527715847	chr2:127635970-127635971	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558405823	chr2:127636096-127636097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571063962	chr2:127636117-127636118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181472791	chr2:127636137-127636138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs186110187	chr2:127636226-127636227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188568273	chr2:127636230-127636231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560685060	chr2:127636248-127636249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543610080	chr2:127636267-127636268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535526089	chr2:127636268-127636269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146982375	chr2:127636279-127636280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565642280	chr2:127636292-127636293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534337931	chr2:127636313-127636314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs139947267	chr2:127636365-127636366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557993338	chr2:127636381-127636382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374468390	chr2:127636475-127636476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs138064815	chr2:127636531-127636532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563498980	chr2:127636541-127636542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536998363	chr2:127636564-127636565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556731242	chr2:127636677-127636678	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs573537148	chr2:127636682-127636683	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs541902160	chr2:127636691-127636692	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs562054042	chr2:127636700-127636701	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs375140019	chr2:127636705-127636706	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs541068551	chr2:127636707-127636708	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs368015904	chr2:127636715-127636716	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs181342027	chr2:127636726-127636727	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs542996108	chr2:127636740-127636741	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs533656302	chr2:127636754-127636755	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs147298864	chr2:127636763-127636764	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs13396773	chr2:127636771-127636772	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs35240306	chr2:127636789-127636790	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs191072262	chr2:127636815-127636816	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs4663052	chr2:127636821-127636822	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs113373947	chr2:127636822-127636823	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs549028673	chr2:127636853-127636854	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs535249731	chr2:127636867-127636868	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs532516034	chr2:127636897-127636898	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs13005494	chr2:127636907-127636908	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs13035634	chr2:127636909-127636910	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs565648040	chr2:127636921-127636922	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs201427602	chr2:127636928-127636929	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs13005517	chr2:127636939-127636940	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs13015500	chr2:127636944-127636945	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs534564651	chr2:127636949-127636950	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs371374905	chr2:127636952-127636953	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs13035822	chr2:127636967-127636968	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs149321385	chr2:127636968-127636969	Weak transcription ZNF genes & repeats	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:34 , 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	chr2:127634800-127635800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:127634800-127636800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:127634800-127637200	Weak transcription	Gastric	stomach
5	chr2:127634800-127637400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:127635800-127636000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:127635800-127636600	Enhancers	Fetal Kidney	kidney
8	chr2:127636000-127637000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:127636400-127643800	Weak transcription	Right Atrium	heart
10	chr2:127636600-127636800	Weak transcription	Fetal Kidney	kidney
11	chr2:127636600-127637200	ZNF genes & repeats	Pancreas	Pancrea
12	chr2:127636800-127637600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
13	chr2:127636800-127637600	ZNF genes & repeats	Fetal Kidney	kidney
14	chr2:127636800-127637800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr2:127636800-127637800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:127637000-127637400	Transcr. at gene 5' and 3'	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:127637000-127637600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:127637200-127637600	Active TSS	Fetal Lung	lung
19	chr2:127637200-127637600	Enhancers	Gastric	stomach
20	chr2:127637400-127637600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr2:127637400-127638400	Enhancers	H1 Cell Line	embryonic stem cell
22	chr2:127637600-127638000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:127637600-127643000	Weak transcription	Fetal Kidney	kidney
24	chr2:127637600-127643600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:127637600-127643800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr2:127637600-127643800	Weak transcription	Gastric	stomach
27	chr2:127637800-127638400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:127637800-127643800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:127638000-127638400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr2:127638400-127638600	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr2:127638400-127643000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:127638400-127643200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr2:127638600-127639200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr2:127638800-127639600	Enhancers	Primary monocytes fromperipheralblood	blood

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