Variant report

Variant	nsv558246
Chromosome Location	chr12:33392010-33399053
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559431583	chr12:33398419-33398420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs200764456	chr12:33398440-33398441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573134519	chr12:33398459-33398460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541850061	chr12:33398485-33398486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561640628	chr12:33398497-33398498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs558877650	chr12:33398513-33398514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs151269253	chr12:33398526-33398527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140349697	chr12:33398536-33398537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573995263	chr12:33398543-33398544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182240205	chr12:33398547-33398548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs4447253	chr12:33398568-33398569	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs547162353	chr12:33398572-33398573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149929063	chr12:33398587-33398588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535702140	chr12:33398606-33398607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs202205472	chr12:33398625-33398626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs4485186	chr12:33398636-33398637	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs537829773	chr12:33398640-33398641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs4376991	chr12:33398664-33398665	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs578044414	chr12:33398668-33398669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs187980294	chr12:33398669-33398670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553085877	chr12:33398679-33398680	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573197733	chr12:33398694-33398695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs35417019	chr12:33398695-33398696	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs561950011	chr12:33398700-33398701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575338126	chr12:33398715-33398716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192624948	chr12:33398720-33398721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564066749	chr12:33398729-33398730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs1598806	chr12:33398734-33398735	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs183342446	chr12:33398741-33398742	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560283309	chr12:33398751-33398752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188221635	chr12:33398765-33398766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs192116044	chr12:33398786-33398787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569207542	chr12:33398794-33398795	Enhancers	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
Cancer	21272361	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	20967226	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:33398400-33398800	Enhancers	Colon Smooth Muscle	Colon

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