Variant report

Variant	nsv470513
Chromosome Location	chr2:212852669-212874828
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 227 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:227 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1155683	chr2:212852669-212852670	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs80153874	chr2:212852704-212852705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550445688	chr2:212852718-212852719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186251500	chr2:212852731-212852732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147982423	chr2:212852747-212852748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550891420	chr2:212852750-212852751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560923427	chr2:212852835-212852836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189914302	chr2:212852845-212852846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34902199	chr2:212852854-212852855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs76476307	chr2:212852866-212852867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2860059	chr2:212852895-212852896	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs111522617	chr2:212852948-212852949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141072908	chr2:212852953-212852954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551868479	chr2:212852957-212852958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs58791698	chr2:212853026-212853027	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs181508367	chr2:212853029-212853030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144901267	chr2:212853040-212853041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs574254286	chr2:212853073-212853074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186985059	chr2:212853092-212853093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546634164	chr2:212853094-212853095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553168012	chr2:212853126-212853127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572975508	chr2:212853174-212853175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs545130410	chr2:212853176-212853177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs138648979	chr2:212853178-212853179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141775580	chr2:212853213-212853214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564712258	chr2:212853250-212853251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544281165	chr2:212853289-212853290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs16847425	chr2:212853298-212853299	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs150636685	chr2:212853317-212853318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138847063	chr2:212853348-212853349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560419182	chr2:212853349-212853350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7566569	chr2:212853399-212853400	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs190688721	chr2:212853435-212853436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371999638	chr2:212853467-212853468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs368848640	chr2:212853498-212853499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs149349583	chr2:212853533-212853534	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567586761	chr2:212853535-212853536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs17336823	chr2:212853548-212853549	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs537259381	chr2:212853581-212853582	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs183205208	chr2:212853633-212853634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs557806211	chr2:212853637-212853638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs144652031	chr2:212853671-212853672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs538751693	chr2:212853675-212853676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs186407510	chr2:212853722-212853723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs575659608	chr2:212853744-212853745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs373727389	chr2:212853761-212853762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554686076	chr2:212853793-212853794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541599595	chr2:212854665-212854666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561341359	chr2:212854755-212854756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs375483051	chr2:212854770-212854771	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Renal cell carcinoma	18765545	CNVD
Ovarian cancer	19193619	CNVD
Non-small cell lung cancer	18676828	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Urothelial cell carcinoma	18451213	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	17661082	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Schizophrenia	18990708	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212847400-212853000	Weak transcription	Fetal Heart	heart
2	chr2:212853000-212853800	Enhancers	Fetal Heart	heart
3	chr2:212854600-212855200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:212859400-212859800	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr2:212859400-212859800	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr2:212861400-212861800	Enhancers	GM12878-XiMat	blood
7	chr2:212865000-212865200	Enhancers	Brain Hippocampus Middle	brain
8	chr2:212865200-212865800	Weak transcription	Brain Hippocampus Middle	brain
9	chr2:212865800-212866400	Enhancers	Brain Anterior Caudate	brain
10	chr2:212865800-212866600	Enhancers	Brain Hippocampus Middle	brain
11	chr2:212872600-212874400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:212874200-212874800	Enhancers	Brain Angular Gyrus	brain
13	chr2:212874400-212875800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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