Variant report

Variant	esv3326935
Chromosome Location	chr2:46998572-46998903
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:46992530..46995162-chr2:46996184..46999051,3	K562	blood:
2	chr2:46946506..46948828-chr2:46997236..46999160,2	K562	blood:
3	chr2:46991531..46994585-chr2:46996184..46999045,3	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551297486	chr2:46998578-46998579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577120921	chr2:46998596-46998597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs66813442	chr2:46998597-46998598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs13421701	chr2:46998628-46998629	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs371911895	chr2:46998630-46998631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371085475	chr2:46998631-46998632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73926582	chr2:46998693-46998694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549124568	chr2:46998715-46998716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs567710805	chr2:46998740-46998741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572746503	chr2:46998757-46998758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537954509	chr2:46998803-46998804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Myelofibrosis	22110671	CNVD
Hypotonia	17579669	CNVD
Hypotonia-Cystinuria syndrome	16385448	CNVD
Glioblastoma multiforme	17002787	CNVD
Cystinuria	17625506	CNVD
Breast cancer	16272173	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	22355333	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46981400-47006800	Weak transcription	Psoas Muscle	Psoas
2	chr2:46984400-46998600	Weak transcription	Fetal Brain Male	brain
3	chr2:46985600-46998600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:46985600-47008200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:46987400-47005600	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:46987400-47005600	Weak transcription	Left Ventricle	heart
7	chr2:46987600-47006000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:46992400-47005400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:46995000-46999000	Enhancers	Osteobl	bone
10	chr2:46995200-46999000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:46996000-47005200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr2:46997000-46999000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr2:46997400-46998800	Enhancers	NHDF-Ad	bronchial
14	chr2:46998200-46998600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:46998200-46998600	Weak transcription	Ovary	ovary
16	chr2:46998200-46998800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:46998200-46999000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:46998200-47000800	Enhancers	HepG2	liver
19	chr2:46998200-47001800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr2:46998400-46998800	Weak transcription	NHLF	lung
21	chr2:46998400-47000200	Enhancers	A549	lung
22	chr2:46998600-46998800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:46998600-46998800	Enhancers	Fetal Brain Male	brain
24	chr2:46998600-46998800	Enhancers	Ovary	ovary
25	chr2:46998600-46999000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:46998800-46999000	Enhancers	NHLF	lung
27	chr2:46998800-47001000	Weak transcription	NHDF-Ad	bronchial
28	chr2:46998800-47001800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:46998800-47002000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:46998800-47002400	Weak transcription	Ovary	ovary
31	chr2:46998800-47005600	Weak transcription	Fetal Brain Male	brain

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