Variant report

Variant	nsv1001481
Chromosome Location	chr2:209602873-209642036
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 61 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138061991	chr2:209621636-209621637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs73070235	chr2:209621641-209621642	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs148934626	chr2:209621648-209621649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571535678	chr2:209621654-209621655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs185353629	chr2:209621662-209621663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201733632	chr2:209621676-209621677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189469322	chr2:209621681-209621682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567398844	chr2:209621697-209621698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs181391389	chr2:209621702-209621703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553128567	chr2:209621723-209621724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566542794	chr2:209621738-209621739	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116749977	chr2:209621769-209621770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs542013207	chr2:209621804-209621805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143636935	chr2:209621823-209621824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs76917428	chr2:209621834-209621835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs544625259	chr2:209621846-209621847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555234112	chr2:209621849-209621850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138353894	chr2:209621850-209621851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs373967582	chr2:209621902-209621903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540405084	chr2:209621905-209621906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530944839	chr2:209621930-209621931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560236037	chr2:209621961-209621962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs532437180	chr2:209621971-209621972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs185793044	chr2:209622007-209622008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs142834804	chr2:209622026-209622027	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531731216	chr2:209622042-209622043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73070237	chr2:209622063-209622064	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs567528112	chr2:209622082-209622083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529933151	chr2:209622097-209622098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73070239	chr2:209622100-209622101	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs551046583	chr2:209622101-209622102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546299402	chr2:209622107-209622108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538689553	chr2:209622171-209622172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs558616929	chr2:209622202-209622203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs1356379	chr2:209622211-209622212	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs537833446	chr2:209622222-209622223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs146136467	chr2:209622231-209622232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs1356378	chr2:209622265-209622266	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs540443800	chr2:209622295-209622296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188314261	chr2:209622334-209622335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs138956311	chr2:209622353-209622354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs566572024	chr2:209622357-209622358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546031344	chr2:209622372-209622373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs562993021	chr2:209622379-209622380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141497822	chr2:209622409-209622410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs542176404	chr2:209622442-209622443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535627229	chr2:209622459-209622460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs142688001	chr2:209622478-209622479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561181048	chr2:209622514-209622515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs370939024	chr2:209622529-209622530	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Acute lymphoblastic leukemia	22237106	CNVD
Bipolar disorder	19114987	CNVD
Developmental delay	21147756	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209621600-209622800	Enhancers	Fetal Heart	heart

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