Variant report

Variant	nsv961519
Chromosome Location	chr2:152764414-152764914
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183295241	chr2:152764431-152764432	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs564511838	chr2:152764444-152764445	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs528591933	chr2:152764453-152764454	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs573729091	chr2:152764466-152764467	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs564626023	chr2:152764486-152764487	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs149350487	chr2:152764492-152764493	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs1519706	chr2:152764496-152764497	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs573498746	chr2:152764500-152764501	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs113068230	chr2:152764556-152764557	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs144698659	chr2:152764666-152764667	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs565581796	chr2:152764741-152764742	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs531063555	chr2:152764766-152764767	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs544640039	chr2:152764871-152764872	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs561118299	chr2:152764884-152764885	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

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
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
epilepsy	18472482	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
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
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19156171	CNVD
Acute myeloid leukemia	18000384	CNVD
Autism	20808228	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152753200-152764800	Weak transcription	Left Ventricle	heart
2	chr2:152760000-152765400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr2:152760600-152764600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:152760600-152764600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:152761200-152765400	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr2:152761600-152764600	Weak transcription	Brain Substantia Nigra	brain
7	chr2:152762800-152764600	Weak transcription	Brain Germinal Matrix	brain
8	chr2:152762800-152771000	Weak transcription	Primary B cells from cord blood	blood
9	chr2:152763400-152764600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:152763400-152764600	Weak transcription	Brain Hippocampus Middle	brain
11	chr2:152763400-152764600	Weak transcription	Right Atrium	heart
12	chr2:152763400-152765200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:152763400-152765400	Enhancers	GM12878-XiMat	blood
14	chr2:152763600-152764600	Weak transcription	Fetal Heart	heart
15	chr2:152764000-152765200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr2:152764000-152765400	Enhancers	Psoas Muscle	Psoas
17	chr2:152764200-152765000	Enhancers	Adipose Nuclei	Adipose
18	chr2:152764200-152765200	Enhancers	HUVEC	blood vessel
19	chr2:152764200-152765400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:152764200-152765400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr2:152764200-152765400	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr2:152764200-152765400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:152764400-152764800	Active TSS	Brain Anterior Caudate	brain
24	chr2:152764400-152765000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr2:152764400-152765000	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr2:152764400-152765000	Enhancers	Fetal Muscle Leg	muscle
27	chr2:152764400-152765200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:152764400-152765400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr2:152764400-152765400	Enhancers	Aorta	Aorta
30	chr2:152764400-152765400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr2:152764400-152765400	Enhancers	Placenta	Placenta
32	chr2:152764400-152765400	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr2:152764400-152765600	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr2:152764600-152764800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:152764600-152764800	Active TSS	Brain Hippocampus Middle	brain
36	chr2:152764600-152765000	Enhancers	Brain Cingulate Gyrus	brain
37	chr2:152764600-152765000	Enhancers	Brain Substantia Nigra	brain
38	chr2:152764600-152765200	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr2:152764600-152765200	Enhancers	Right Atrium	heart
40	chr2:152764600-152765400	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr2:152764600-152765400	Enhancers	Brain Germinal Matrix	brain
42	chr2:152764600-152765400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr2:152764600-152765400	Enhancers	Fetal Heart	heart
44	chr2:152764800-152765000	Flanking Active TSS	Brain Anterior Caudate	brain
45	chr2:152764800-152765000	Flanking Active TSS	Brain Hippocampus Middle	brain
46	chr2:152764800-152765200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:152764800-152765200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:152764800-152765200	Enhancers	Left Ventricle	heart
49	chr2:152764800-152765200	Enhancers	K562	blood
50	chr2:152764800-152765400	Enhancers	HUES48 Cell Line	embryonic stem cell

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