Variant report

Variant	esv1847876
Chromosome Location	chr2:212771670-212774540
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	chr2:212770483..212772288-chr2:212787078..212789337,2	MCF-7	breast:

Extended variants
information (count: 96 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13391359	chr2:212771670-212771671	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs187883451	chr2:212771690-212771691	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192513217	chr2:212771691-212771692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568547168	chr2:212771701-212771702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184850372	chr2:212771725-212771726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557277195	chr2:212771727-212771728	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542751885	chr2:212771746-212771747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs141617576	chr2:212771781-212771782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs76146470	chr2:212771790-212771791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369264885	chr2:212771796-212771797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114792967	chr2:212771839-212771840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188128824	chr2:212771857-212771858	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558972369	chr2:212771874-212771875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73073363	chr2:212771956-212771957	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs562074964	chr2:212771959-212771960	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561126239	chr2:212771989-212771990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530006881	chr2:212772139-212772140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs73073366	chr2:212772171-212772172	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs73073370	chr2:212772221-212772222	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs201226873	chr2:212772226-212772227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530917830	chr2:212772259-212772260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192081970	chr2:212772282-212772283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562139970	chr2:212772358-212772359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs73073372	chr2:212772374-212772375	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs377569041	chr2:212772431-212772432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs150100134	chr2:212772512-212772513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73077349	chr2:212772517-212772518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536972399	chr2:212772522-212772523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554304657	chr2:212772566-212772567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs374832475	chr2:212772567-212772568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546865606	chr2:212772587-212772588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs10187387	chr2:212772588-212772589	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs200675935	chr2:212772589-212772590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs138639820	chr2:212772590-212772591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559136658	chr2:212772615-212772616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540222858	chr2:212772637-212772638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs375195329	chr2:212772643-212772644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529711389	chr2:212772686-212772687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575819558	chr2:212772728-212772729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79323300	chr2:212772760-212772761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112792994	chr2:212772769-212772770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs56232132	chr2:212772780-212772781	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs149313335	chr2:212772860-212772861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540555081	chr2:212772895-212772896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146274579	chr2:212772951-212772952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs139277158	chr2:212773003-212773004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184626443	chr2:212773038-212773039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562201284	chr2:212773056-212773057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189323199	chr2:212773069-212773070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116446379	chr2:212773096-212773097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Acute lymphoblastic leukemia	22237106	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	17661082	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	18990708	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212769200-212772000	Weak transcription	Fetal Heart	heart
2	chr2:212771400-212771800	Enhancers	Brain Substantia Nigra	brain
3	chr2:212771600-212771800	Enhancers	Brain Anterior Caudate	brain
4	chr2:212771600-212772200	Enhancers	Brain Cingulate Gyrus	brain
5	chr2:212772000-212772600	Enhancers	Fetal Heart	heart
6	chr2:212772600-212774200	Weak transcription	Fetal Heart	heart
7	chr2:212774200-212774400	Enhancers	Fetal Heart	heart

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