Variant report

Variant	nsv8949
Chromosome Location	chr12:34094284-34095536
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116070721	chr12:34094299-34094300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541726175	chr12:34094354-34094355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs142582256	chr12:34094369-34094370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190772407	chr12:34094383-34094384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544431627	chr12:34094390-34094391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562335302	chr12:34094497-34094498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564107948	chr12:34094520-34094521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs67916255	chr12:34094523-34094524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532105229	chr12:34094524-34094525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs59883978	chr12:34094534-34094535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs367597204	chr12:34094555-34094556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533072237	chr12:34094566-34094567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546681075	chr12:34094571-34094572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs814658	chr12:34094622-34094623	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs566419919	chr12:34094637-34094638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs386762004	chr12:34094707-34094708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1844524	chr12:34094709-34094710	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs569574232	chr12:34094718-34094719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147100666	chr12:34094720-34094721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74796598	chr12:34094723-34094724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs814657	chr12:34094733-34094734	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs551979357	chr12:34094774-34094775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs201513111	chr12:34094789-34094790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182864432	chr12:34094807-34094808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551561239	chr12:34094810-34094811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553804234	chr12:34094868-34094869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566988807	chr12:34094887-34094888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370414965	chr12:34094915-34094916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112032178	chr12:34094988-34094989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573795478	chr12:34095017-34095018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536289350	chr12:34095030-34095031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556125713	chr12:34095104-34095105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs575525959	chr12:34095122-34095123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369880581	chr12:34095146-34095147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544153289	chr12:34095163-34095164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145799020	chr12:34095167-34095168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577720856	chr12:34095186-34095187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540331827	chr12:34095187-34095188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113603422	chr12:34095254-34095255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187820281	chr12:34095270-34095271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141467470	chr12:34095283-34095284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113435299	chr12:34095349-34095350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562322832	chr12:34095368-34095369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552062378	chr12:34095382-34095383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368273779	chr12:34095402-34095403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1995966	chr12:34095420-34095421	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs551746739	chr12:34095448-34095449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	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
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chordoma	18071362	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:34092000-34096800	Weak transcription	Liver	Liver
2	chr12:34093800-34130400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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