Variant report

Variant	nsv520002
Chromosome Location	chr2:85912962-85912973
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	chr2:85912358..85914098-chr2:85920772..85923092,2	K562	blood:

Variant related genes	Relation type
ENSG00000115523	chromatin interactions

Extended variants
information (count: 3 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17430897	chr2:85912962-85912963	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs386648111	chr2:85912971-85912972	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs6714324	chr2:85912973-85912974	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:48)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
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
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	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
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16272173	CNVD
Breast cancer	20409316	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85906400-85914000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:85906800-85914400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:85906800-85918400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:85908000-85914800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:85908600-85914200	Weak transcription	Brain Angular Gyrus	brain
6	chr2:85908800-85914000	Weak transcription	Brain Substantia Nigra	brain
7	chr2:85908800-85914200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:85909000-85914000	Weak transcription	NHLF	lung
9	chr2:85909000-85914200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr2:85909200-85913800	Weak transcription	A549	lung
11	chr2:85909200-85914200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:85909200-85921200	Weak transcription	Lung	lung
13	chr2:85909400-85913800	Weak transcription	Hela-S3	cervix
14	chr2:85909600-85914000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:85909600-85914200	Weak transcription	Osteobl	bone
16	chr2:85909800-85914000	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr2:85909800-85914200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:85909800-85914600	Weak transcription	Psoas Muscle	Psoas
19	chr2:85909800-85920800	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr2:85911600-85913400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
21	chr2:85912200-85914400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:85912200-85920600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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