Variant report

Variant	nsv899046
Chromosome Location	chr12:42271300-42291928
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 593 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:593 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146240197	chr12:42274002-42274003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs368514570	chr12:42274008-42274009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs1497160	chr12:42274024-42274025	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs537103372	chr12:42274122-42274123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs555841509	chr12:42274141-42274142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139260918	chr12:42274156-42274157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535041560	chr12:42274202-42274203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553432621	chr12:42274204-42274205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188729180	chr12:42274231-42274232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112507095	chr12:42274303-42274304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546163844	chr12:42274321-42274322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142618498	chr12:42274357-42274358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs111925347	chr12:42274455-42274456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576194177	chr12:42274492-42274493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543114682	chr12:42274516-42274517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561842732	chr12:42274539-42274540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529006866	chr12:42274542-42274543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs180756636	chr12:42274559-42274560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74077119	chr12:42274566-42274567	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs151002499	chr12:42274620-42274621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551661246	chr12:42274621-42274622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs570111030	chr12:42274663-42274664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74077120	chr12:42274664-42274665	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs140889706	chr12:42274681-42274682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs534843788	chr12:42274688-42274689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553395821	chr12:42274712-42274713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539434914	chr12:42274723-42274724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571669746	chr12:42274754-42274755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10785308	chr12:42274805-42274806	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs558098583	chr12:42274839-42274840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs77407279	chr12:42274880-42274881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7138379	chr12:42274894-42274895	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs540365429	chr12:42274929-42274930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555306516	chr12:42274934-42274935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547432780	chr12:42275029-42275030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150858820	chr12:42275030-42275031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555505443	chr12:42275041-42275042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540772976	chr12:42275048-42275049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373114480	chr12:42275049-42275050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111283107	chr12:42275050-42275051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113842793	chr12:42275051-42275052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs67269292	chr12:42275059-42275060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs367689146	chr12:42275063-42275064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145860483	chr12:42275070-42275071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538539199	chr12:42275080-42275081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558877047	chr12:42275086-42275087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577227766	chr12:42275094-42275095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10467186	chr12:42275098-42275099	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs564032459	chr12:42275100-42275101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531139610	chr12:42275121-42275122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42274000-42288200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr12:42275000-42275400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:42275600-42277400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:42276000-42276400	Enhancers	Brain Substantia Nigra	brain
5	chr12:42277000-42286200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr12:42283800-42284000	Enhancers	Aorta	Aorta
7	chr12:42284000-42290200	Weak transcription	Aorta	Aorta
8	chr12:42287200-42287800	Enhancers	Liver	Liver
9	chr12:42288200-42288600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:42290200-42290400	Active TSS	Aorta	Aorta

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