Variant report

Variant	esv3459970
Chromosome Location	chr2:213370045-213371252
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	chr2:213370671..213373168-chr2:213375734..213377389,2	MCF-7	breast:

Extended variants
information (count: 50 )
Associated
traits (count: 56 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558675404	chr2:213370047-213370048	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187085400	chr2:213370083-213370084	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs111730281	chr2:213370104-213370105	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs367626864	chr2:213370105-213370106	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553220533	chr2:213370106-213370107	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574610326	chr2:213370116-213370117	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536572542	chr2:213370135-213370136	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192367457	chr2:213370139-213370140	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184030229	chr2:213370148-213370149	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563647357	chr2:213370235-213370236	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530804987	chr2:213370270-213370271	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs141946394	chr2:213370291-213370292	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184985906	chr2:213370301-213370302	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528584310	chr2:213370357-213370358	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546755469	chr2:213370358-213370359	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568542663	chr2:213370365-213370366	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370311194	chr2:213370368-213370369	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs550987912	chr2:213370394-213370395	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569574453	chr2:213370401-213370402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537003725	chr2:213370504-213370505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566838848	chr2:213370511-213370512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs558589662	chr2:213370555-213370556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs150678554	chr2:213370621-213370622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113651000	chr2:213370709-213370710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs74501745	chr2:213370715-213370716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116142494	chr2:213370716-213370717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs542051641	chr2:213370727-213370728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76522327	chr2:213370754-213370755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368463454	chr2:213370768-213370769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575499065	chr2:213370806-213370807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545766386	chr2:213370824-213370825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575809442	chr2:213370840-213370841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375430939	chr2:213370853-213370854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs552484660	chr2:213370875-213370876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs370101263	chr2:213370876-213370877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571034220	chr2:213370878-213370879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs111942710	chr2:213370893-213370894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540304448	chr2:213370928-213370929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562254587	chr2:213370994-213370995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529454778	chr2:213371016-213371017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551163140	chr2:213371037-213371038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs6752016	chr2:213371066-213371067	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs371191520	chr2:213371073-213371074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76451859	chr2:213371076-213371077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs139118956	chr2:213371078-213371079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs534652467	chr2:213371079-213371080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546368942	chr2:213371127-213371128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149869685	chr2:213371189-213371190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs386654832	chr2:213371236-213371237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372305093	chr2:213371244-213371245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
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
Breast cancer	17603634	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
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
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	21147756	CNVD
Schizophrenia	18990708	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213367800-213372200	Weak transcription	Aorta	Aorta
2	chr2:213370000-213370400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:213370400-213373800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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