Variant report

Variant	esv3334479
Chromosome Location	chr2:116373732-116376030
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192051342	chr2:116373770-116373771	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs550596057	chr2:116373799-116373800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543376588	chr2:116373848-116373849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs4849413	chr2:116373882-116373883	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs532411752	chr2:116373917-116373918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10496499	chr2:116373937-116373938	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs184129233	chr2:116373941-116373942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528182372	chr2:116373945-116373946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551133835	chr2:116373952-116373953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548616812	chr2:116373961-116373962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs4848394	chr2:116373968-116373969	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs144024336	chr2:116374008-116374009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550073051	chr2:116374041-116374042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570036790	chr2:116374062-116374063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538900636	chr2:116374080-116374081	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567744016	chr2:116374089-116374090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs76750232	chr2:116374100-116374101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs188632945	chr2:116374176-116374177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534855168	chr2:116374230-116374231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555022992	chr2:116374253-116374254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574578002	chr2:116374270-116374271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs537263930	chr2:116374281-116374282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs146456328	chr2:116374285-116374286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs577211708	chr2:116374337-116374338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs114750860	chr2:116374349-116374350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs200912885	chr2:116374374-116374375	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559430210	chr2:116374431-116374432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192725414	chr2:116374472-116374473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs541595409	chr2:116374561-116374562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs373109703	chr2:116374562-116374563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs371734147	chr2:116374564-116374565	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Hodgkin''s lymphoma	17606441	CNVD
Mental retardation	17621639	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:116371800-116373800	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr2:116373200-116374600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:116373600-116374600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:116373800-116374400	Enhancers	Cortex derived primary cultured neurospheres	brain

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