Variant report

Variant	esv3502747
Chromosome Location	chr2:208910288-208910705
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564914611	chr2:208910356-208910357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530862495	chr2:208910358-208910359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187166645	chr2:208910364-208910365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370370874	chr2:208910381-208910382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555638126	chr2:208910384-208910385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567421305	chr2:208910391-208910392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs13002375	chr2:208910414-208910415	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs112325947	chr2:208910415-208910416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562692782	chr2:208910417-208910418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560296782	chr2:208910419-208910420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564101135	chr2:208910422-208910423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566200299	chr2:208910544-208910545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538864255	chr2:208910556-208910557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375067896	chr2:208910586-208910587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368385691	chr2:208910594-208910595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377587186	chr2:208910596-208910597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370178284	chr2:208910599-208910600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569332883	chr2:208910603-208910604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374799125	chr2:208910625-208910626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs538576704	chr2:208910644-208910645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199993372	chr2:208910647-208910648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200958560	chr2:208910649-208910650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201915954	chr2:208910650-208910651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200192334	chr2:208910651-208910652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182871421	chr2:208910690-208910691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	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
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	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
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Cervical cancer	21062161	CNVD
Intracranial aneurysm	16715129	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208899000-208912000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:208905600-208911400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:208907000-208912000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:208907000-208913800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr2:208908200-208911000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:208909800-208912000	Weak transcription	HepG2	liver

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