Variant report

Variant	nsv983441
Chromosome Location	chr12:75092726-75110190
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:75102624..75104674-chr12:75106100..75107854,2	MCF-7	breast:
2	chr12:75106983..75109185-chr12:75115008..75117745,2	K562	blood:
3	chr12:75102624..75104674-chr12:75106100..75107854,2	MCF-7	breast:
4	chr12:75087580..75089343-chr12:75091568..75094109,2	MCF-7	breast:

Extended variants
information (count: 163 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:163 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568288201	chr12:75092726-75092727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373063748	chr12:75092750-75092751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs137895515	chr12:75092776-75092777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192971952	chr12:75092791-75092792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557506203	chr12:75092843-75092844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539453716	chr12:75092876-75092877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375583596	chr12:75092930-75092931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs142384575	chr12:75092946-75092947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116277629	chr12:75092952-75092953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542145113	chr12:75092989-75092990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562030791	chr12:75092995-75092996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572347440	chr12:75093004-75093005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533539216	chr12:75093006-75093007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs185347438	chr12:75093024-75093025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576724880	chr12:75093045-75093046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs544145481	chr12:75093046-75093047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs906564	chr12:75093077-75093078	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs371462065	chr12:75093111-75093112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs75433521	chr12:75093116-75093117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2102409	chr12:75093134-75093135	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs531308723	chr12:75093162-75093163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189469278	chr12:75093178-75093179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114222004	chr12:75093179-75093180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11834436	chr12:75093241-75093242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181391392	chr12:75093308-75093309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534025595	chr12:75093329-75093330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547522640	chr12:75093342-75093343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570866130	chr12:75093347-75093348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs576112937	chr12:75093355-75093356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539894074	chr12:75093378-75093379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs138622636	chr12:75093393-75093394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573081318	chr12:75093406-75093407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183492617	chr12:75093411-75093412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4351886	chr12:75093426-75093427	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs535449806	chr12:75093442-75093443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555688992	chr12:75093450-75093451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs11832067	chr12:75093454-75093455	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs541238008	chr12:75093461-75093462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572365142	chr12:75093465-75093466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188320423	chr12:75093494-75093495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576883882	chr12:75093498-75093499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11610852	chr12:75093532-75093533	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs562426414	chr12:75093602-75093603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531374001	chr12:75093645-75093646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564380189	chr12:75093655-75093656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541841967	chr12:75093697-75093698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561965906	chr12:75093723-75093724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563786482	chr12:75093752-75093753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs181859043	chr12:75093765-75093766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563850167	chr12:75093775-75093776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Neurodevelopmental disorder	22521361	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
Colorectal cancer	16272173	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
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	17133270	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
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75092400-75095200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:75095200-75095400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:75106000-75107000	Enhancers	Pancreatic Islets	Pancreatic Islet

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