Variant report

Variant	esv3518511
Chromosome Location	chr12:87409671-87428669
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	chr12:87376736..87379148-chr12:87408006..87409813,2	K562	blood:

Extended variants
information (count: 542 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:542 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534062369	chr12:87409674-87409675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs532088934	chr12:87409716-87409717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573943309	chr12:87409873-87409874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576040386	chr12:87409889-87409890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11615381	chr12:87409933-87409934	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs575140907	chr12:87409954-87409955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs543884840	chr12:87409967-87409968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201519705	chr12:87409980-87409981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs71078957	chr12:87410009-87410010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs61077396	chr12:87410010-87410011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73177608	chr12:87410040-87410041	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs11609545	chr12:87410109-87410110	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs10777016	chr12:87410111-87410112	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs12426914	chr12:87410124-87410125	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs12823125	chr12:87410182-87410183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs12824580	chr12:87410187-87410188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529089800	chr12:87410193-87410194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78785206	chr12:87410200-87410201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12822951	chr12:87410206-87410207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191279269	chr12:87410211-87410212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12823306	chr12:87410217-87410218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538169812	chr12:87410219-87410220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12823313	chr12:87410222-87410223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143601662	chr12:87410226-87410227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12823329	chr12:87410258-87410259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184710295	chr12:87410266-87410267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12823356	chr12:87410284-87410285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558724959	chr12:87410295-87410296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142543420	chr12:87410328-87410329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189157375	chr12:87410333-87410334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs12823537	chr12:87410342-87410343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542073666	chr12:87410350-87410351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs193168733	chr12:87410351-87410352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs68009363	chr12:87410381-87410382	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs147164448	chr12:87410438-87410439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574589959	chr12:87410475-87410476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11104235	chr12:87410477-87410478	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs372861198	chr12:87410499-87410500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112981027	chr12:87410502-87410503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545716166	chr12:87410516-87410517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564058338	chr12:87410591-87410592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75828996	chr12:87410599-87410600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540292993	chr12:87410609-87410610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185051861	chr12:87410638-87410639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190151838	chr12:87410647-87410648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529059501	chr12:87410652-87410653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548884187	chr12:87410653-87410654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375939908	chr12:87410680-87410681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140427238	chr12:87410686-87410687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574918403	chr12:87410699-87410700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	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
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	17550852	CNVD
Melanoma	17363583	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:87398800-87424000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr12:87414400-87414600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:87414800-87415200	Weak transcription	H9 Cell Line	embryonic stem cell

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