Variant report

Variant	nsv826345
Chromosome Location	chr12:41148196-41151169
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546862422	chr12:41148260-41148261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545515867	chr12:41148279-41148280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377141827	chr12:41148331-41148332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73110881	chr12:41148365-41148366	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs538421899	chr12:41148388-41148389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115233693	chr12:41148439-41148440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569208451	chr12:41148494-41148495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111581985	chr12:41148504-41148505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs554535788	chr12:41148608-41148609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548919533	chr12:41148631-41148632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183092287	chr12:41148657-41148658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78461314	chr12:41148658-41148659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577036153	chr12:41148695-41148696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77142852	chr12:41148704-41148705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186262923	chr12:41148738-41148739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs145279092	chr12:41148747-41148748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542648095	chr12:41148842-41148843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6581936	chr12:41148939-41148940	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs11178211	chr12:41148988-41148989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs141936503	chr12:41148992-41148993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74739010	chr12:41148995-41148996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557970110	chr12:41149012-41149013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569068718	chr12:41149015-41149016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539247564	chr12:41149018-41149019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6581937	chr12:41149026-41149027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549077686	chr12:41149105-41149106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191468788	chr12:41149108-41149109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183733698	chr12:41149204-41149205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11382967	chr12:41149234-41149235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77724197	chr12:41149236-41149237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540550186	chr12:41149247-41149248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs367738517	chr12:41149341-41149342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs80305143	chr12:41149364-41149365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532339269	chr12:41149379-41149380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372094928	chr12:41149387-41149388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77014431	chr12:41149410-41149411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569377420	chr12:41149506-41149507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs374585038	chr12:41149561-41149562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368260080	chr12:41149571-41149572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs117618714	chr12:41149620-41149621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188503785	chr12:41149621-41149622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1899829	chr12:41149681-41149682	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs533895937	chr12:41149701-41149702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558842341	chr12:41149801-41149802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs555369630	chr12:41149842-41149843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531795253	chr12:41149872-41149873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs141015042	chr12:41149876-41149877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs118109221	chr12:41149884-41149885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73110883	chr12:41149946-41149947	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs147637990	chr12:41149954-41149955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
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
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
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41133800-41162400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:41146200-41187400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:41146400-41151200	Weak transcription	Brain Substantia Nigra	brain
4	chr12:41150200-41150400	Enhancers	Brain Cingulate Gyrus	brain

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