Variant report

Variant	nsv933940
Chromosome Location	chr2:179547749-179548286
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:179545711..179549997-chr2:179551893..179554753,3	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147014006	chr2:179547786-179547787	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560635226	chr2:179547814-179547815	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373304664	chr2:179547842-179547843	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2303828	chr2:179547860-179547861	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs373920125	chr2:179547886-179547887	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546105899	chr2:179547937-179547938	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529452747	chr2:179548026-179548027	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138192315	chr2:179548028-179548029	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371137514	chr2:179548029-179548030	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs373534381	chr2:179548058-179548059	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530562293	chr2:179548153-179548154	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550160055	chr2:179548160-179548161	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566875976	chr2:179548177-179548178	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2627039	chr2:179548202-179548203	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs566675699	chr2:179548278-179548279	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370814897	chr2:179548285-179548286	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
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
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179483200-179655400	Weak transcription	Adipose Nuclei	Adipose
2	chr2:179493000-179620800	Weak transcription	HSMM	muscle
3	chr2:179528200-179601200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:179528400-179563200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr2:179529600-179600600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr2:179533600-179669200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr2:179534400-179556200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr2:179534400-179576200	Weak transcription	Fetal Intestine Large	intestine
9	chr2:179538400-179591800	Weak transcription	Fetal Thymus	thymus
10	chr2:179540400-179586800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:179542000-179559000	Strong transcription	Fetal Heart	heart
12	chr2:179542200-179561200	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr2:179542600-179551400	Weak transcription	Primary B cells from peripheral blood	blood
14	chr2:179542600-179577000	Weak transcription	Right Ventricle	heart
15	chr2:179543200-179583400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr2:179543400-179596800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr2:179543800-179552600	Strong transcription	Primary B cells from cord blood	blood
18	chr2:179544400-179550600	Weak transcription	Fetal Muscle Trunk	muscle
19	chr2:179544800-179548000	Strong transcription	Skeletal Muscle Male	skeletal muscle
20	chr2:179544800-179579600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr2:179545000-179551400	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr2:179545200-179548800	Weak transcription	Left Ventricle	heart
23	chr2:179545600-179549000	Weak transcription	Psoas Muscle	Psoas
24	chr2:179545800-179551000	Weak transcription	Fetal Muscle Leg	muscle
25	chr2:179545800-179558800	Strong transcription	Primary T cells from cord blood	blood
26	chr2:179545800-179586800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr2:179546200-179548800	Weak transcription	HSMMtube	muscle
28	chr2:179547400-179549800	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr2:179547600-179548000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
30	chr2:179547600-179553000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr2:179548000-179548800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr2:179548000-179551200	Strong transcription	Skeletal Muscle Female	skeletal muscle

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