Variant report

Variant	esv3368712
Chromosome Location	chr2:114311685-114312264
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2418662	chr2:114311708-114311709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535275581	chr2:114311730-114311731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs548487461	chr2:114311770-114311771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371753094	chr2:114311790-114311791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6715091	chr2:114311798-114311799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111990609	chr2:114311814-114311815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567702990	chr2:114311819-114311820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111386557	chr2:114311854-114311855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574697927	chr2:114311870-114311871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201472946	chr2:114311874-114311875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs536677266	chr2:114311894-114311895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs6715195	chr2:114311898-114311899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs112411845	chr2:114311901-114311902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112681582	chr2:114311910-114311911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6715203	chr2:114311926-114311927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565477691	chr2:114311930-114311931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs28709568	chr2:114311954-114311955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs28533221	chr2:114311982-114311983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556635445	chr2:114312042-114312043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs28539340	chr2:114312066-114312067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs28625465	chr2:114312094-114312095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs60033635	chr2:114312097-114312098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200089694	chr2:114312098-114312099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs28709300	chr2:114312122-114312123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs56108810	chr2:114312150-114312151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373373506	chr2:114312153-114312154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369411652	chr2:114312178-114312179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12620373	chr2:114312181-114312182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539171216	chr2:114312184-114312185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554291348	chr2:114312190-114312191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184026315	chr2:114312206-114312207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572977223	chr2:114312209-114312210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542109411	chr2:114312216-114312217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187583849	chr2:114312218-114312219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2259892	chr2:114312244-114312245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574862979	chr2:114312251-114312252	Weak transcription	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Colorectal cancer	16912164	CNVD
Ischaemic stroke	16980335	CNVD
Acute myeloid leukemia	18000384	CNVD
Nephronophthisis	17901113	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114309600-114314200	Weak transcription	Fetal Lung	lung
2	chr2:114309800-114314400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:114311400-114340400	Weak transcription	Fetal Stomach	stomach

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