Variant report

Variant	esv12414
Chromosome Location	chr2:76314741-76315667
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	chr2:76309108..76311658-chr2:76313457..76316023,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs390810	chr2:76314752-76314753	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567210571	chr2:76314770-76314771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs534179608	chr2:76314804-76314805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555503174	chr2:76314881-76314882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538429577	chr2:76314930-76314931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs544343095	chr2:76314961-76314962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556625396	chr2:76315017-76315018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540767494	chr2:76315053-76315054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs140661470	chr2:76315063-76315064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs72822720	chr2:76315112-76315113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs560002048	chr2:76315117-76315118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs410954	chr2:76315138-76315139	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs542930419	chr2:76315157-76315158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150091809	chr2:76315169-76315170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531346851	chr2:76315194-76315195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs395903	chr2:76315201-76315202	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs571413822	chr2:76315221-76315222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533556360	chr2:76315237-76315238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552035966	chr2:76315254-76315255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567146223	chr2:76315262-76315263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535739788	chr2:76315295-76315296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs58742247	chr2:76315320-76315321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534195986	chr2:76315325-76315326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs200453942	chr2:76315331-76315332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs394278	chr2:76315359-76315360	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs528938800	chr2:76315384-76315385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533376012	chr2:76315385-76315386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs138629061	chr2:76315397-76315398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs416264	chr2:76315398-76315399	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs380810	chr2:76315409-76315410	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs183075922	chr2:76315417-76315418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs79027358	chr2:76315421-76315422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576819544	chr2:76315445-76315446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs78397731	chr2:76315466-76315467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs561239359	chr2:76315482-76315483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs12612816	chr2:76315508-76315509	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs115364935	chr2:76315549-76315550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs187794289	chr2:76315553-76315554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs547535027	chr2:76315554-76315555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs386647483	chr2:76315601-76315602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12615814	chr2:76315602-76315603	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs560503849	chr2:76315624-76315625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs416093	chr2:76315652-76315653	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	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
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76312600-76315000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:76315000-76316000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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