Variant report

Variant	esv3328285
Chromosome Location	chr2:74037044-74039217
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:74039040..74040674-chr2:74053917..74056106,2	K562	blood:
2	chr2:74038622..74040472-chr2:74041607..74044081,2	K562	blood:
3	chr2:74038622..74040633-chr2:74042512..74044081,2	K562	blood:

Variant related genes	Relation type
ENSG00000124356	chromatin interactions

Extended variants
information (count: 13 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78459319	chr2:74037126-74037127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7597302	chr2:74037131-74037132	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs554944055	chr2:74037181-74037182	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115954447	chr2:74037187-74037188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144500527	chr2:74037222-74037223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs545075663	chr2:74037259-74037260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs112766225	chr2:74037297-74037298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576167149	chr2:74037373-74037374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs186295042	chr2:74039102-74039103	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs549939687	chr2:74039118-74039119	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs571789530	chr2:74039124-74039125	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs28716396	chr2:74039199-74039200	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs553930012	chr2:74039204-74039205	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	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
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	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
Developmental delay	21147756	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Hepatocellular carcinoma	16750200	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74036800-74037400	Enhancers	GM12878-XiMat	blood

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