Variant report

Variant	esv3460906
Chromosome Location	chr2:116183518-116184227
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:53 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148047395	chr2:116183526-116183527	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs143777102	chr2:116183542-116183543	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs6542262	chr2:116183567-116183568	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs190466920	chr2:116183579-116183580	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs7565824	chr2:116183600-116183601	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs7575073	chr2:116183606-116183607	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs13021167	chr2:116183617-116183618	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs182240619	chr2:116183620-116183621	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs550638815	chr2:116183631-116183632	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs569784744	chr2:116183653-116183654	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs201340601	chr2:116183659-116183660	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs111780140	chr2:116183666-116183667	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs112032036	chr2:116183667-116183668	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs565662572	chr2:116183669-116183670	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs112325082	chr2:116183670-116183671	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs535654042	chr2:116183675-116183676	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs555241757	chr2:116183678-116183679	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs113045408	chr2:116183687-116183688	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs554628147	chr2:116183706-116183707	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs35989285	chr2:116183712-116183713	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs112577337	chr2:116183716-116183717	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs112813709	chr2:116183717-116183718	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs111336958	chr2:116183720-116183721	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs13023029	chr2:116183766-116183767	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs111935929	chr2:116183767-116183768	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs112138253	chr2:116183770-116183771	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs112451857	chr2:116183816-116183817	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs369568644	chr2:116183817-116183818	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs35035704	chr2:116183896-116183897	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs34933452	chr2:116183912-116183913	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs536417419	chr2:116183919-116183920	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs556462723	chr2:116183920-116183921	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs576286714	chr2:116183942-116183943	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs865810	chr2:116183946-116183947	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs545673118	chr2:116183955-116183956	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs374019476	chr2:116183962-116183963	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs558725391	chr2:116183968-116183969	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs572379942	chr2:116183969-116183970	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs865228	chr2:116183995-116183996	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs541200203	chr2:116184038-116184039	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs111999763	chr2:116184045-116184046	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs376905728	chr2:116184061-116184062	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs113212666	chr2:116184095-116184096	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs13023692	chr2:116184115-116184116	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs561332281	chr2:116184119-116184120	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs70941059	chr2:116184164-116184165	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs71418561	chr2:116184165-116184166	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs529935077	chr2:116184199-116184200	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs543594985	chr2:116184205-116184206	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs563585434	chr2:116184206-116184207	Weak transcription Enhancers Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	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
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:116172400-116184600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:116173000-116184200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr2:116181000-116184800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:116182000-116184600	Weak transcription	Fetal Intestine Large	intestine
5	chr2:116183400-116185400	ZNF genes & repeats	Fetal Intestine Small	intestine
6	chr2:116184200-116185400	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr2:116184200-116186400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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