Variant report

Variant	nsv976538
Chromosome Location	chr12:31052831-31057534
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 191 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:191 , 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	rs138709952	chr12:31052838-31052839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149355210	chr12:31052863-31052864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139199960	chr12:31052874-31052875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565061452	chr12:31052926-31052927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143696056	chr12:31052983-31052984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373598069	chr12:31053017-31053018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541038720	chr12:31053115-31053116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75859437	chr12:31053119-31053120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185395366	chr12:31053163-31053164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148115538	chr12:31053200-31053201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs33239	chr12:31053210-31053211	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs189667799	chr12:31053247-31053248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs566020020	chr12:31053251-31053252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530701269	chr12:31053291-31053292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs370877701	chr12:31053296-31053297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373805632	chr12:31053304-31053305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs552370750	chr12:31053321-31053322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570577410	chr12:31053329-31053330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs534663519	chr12:31053352-31053353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73284426	chr12:31053364-31053365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568042020	chr12:31053420-31053421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536582636	chr12:31053442-31053443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555226033	chr12:31053466-31053467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs75676221	chr12:31053472-31053473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543627702	chr12:31053534-31053535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558687930	chr12:31053550-31053551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11051146	chr12:31053557-31053558	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs375436095	chr12:31053559-31053560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548453640	chr12:31053567-31053568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141912453	chr12:31053571-31053572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369768259	chr12:31053609-31053610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530090525	chr12:31053612-31053613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541785277	chr12:31053628-31053629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147191163	chr12:31053651-31053652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530791767	chr12:31053677-31053678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2629427	chr12:31053708-31053709	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs117916293	chr12:31053737-31053738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183408458	chr12:31053765-31053766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546663777	chr12:31053862-31053863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568438347	chr12:31053881-31053882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567996377	chr12:31053884-31053885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs138854339	chr12:31053905-31053906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs577272967	chr12:31053909-31053910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550274043	chr12:31053930-31053931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188054612	chr12:31053934-31053935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371928151	chr12:31053946-31053947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537302826	chr12:31053957-31053958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs807477	chr12:31053979-31053980	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs553626262	chr12:31053996-31053997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571990805	chr12:31054032-31054033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
microdeletion syndrome	16199537	CNVD
Chordoma	18071362	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31050000-31054400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr12:31050000-31058400	Weak transcription	Adipose Nuclei	Adipose
3	chr12:31052200-31054600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:31052400-31054400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr12:31054400-31055400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:31054400-31059000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:31054600-31055600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:31055200-31055400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:31055400-31057400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr12:31055400-31058400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:31055600-31058400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:31057400-31057600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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