Variant report

Variant	nsv963744
Chromosome Location	chr2:168450291-168450791
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559838382	chr2:168450303-168450304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528776958	chr2:168450333-168450334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139573802	chr2:168450365-168450366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373758190	chr2:168450385-168450386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568007627	chr2:168450405-168450406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530523924	chr2:168450420-168450421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550666737	chr2:168450421-168450422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs59746968	chr2:168450431-168450432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187724514	chr2:168450443-168450444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539674102	chr2:168450445-168450446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79122967	chr2:168450449-168450450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568929968	chr2:168450466-168450467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10209128	chr2:168450499-168450500	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs577709938	chr2:168450514-168450515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554671698	chr2:168450529-168450530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574749398	chr2:168450539-168450540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530022187	chr2:168450598-168450599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145101022	chr2:168450604-168450605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576903120	chr2:168450666-168450667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546033099	chr2:168450670-168450671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200927071	chr2:168450686-168450687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189885638	chr2:168450700-168450701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183233621	chr2:168450701-168450702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187869597	chr2:168450710-168450711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	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
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	18414403	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	16573809	CNVD
Myelofibrosis	22110671	CNVD
Neonatal seizures	20384724	CNVD
severe myoclonic epilepsy of infancy	18294202	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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	chr2:168441600-168452600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:168449400-168451600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:168449400-168452400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:168449600-168451600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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