Variant report

Variant	nsv516201
Chromosome Location	chr2:209021232-209021625
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PIKFYVE-4	chr2:209021271-209021486	NONHSAT076632

Extended variants
information (count: 22 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs796271	chr2:209021232-209021233	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs78890386	chr2:209021236-209021237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs796272	chr2:209021301-209021302	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs537349117	chr2:209021314-209021315	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs192108289	chr2:209021324-209021325	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs183836854	chr2:209021353-209021354	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs188611577	chr2:209021359-209021360	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs114550653	chr2:209021364-209021365	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs80248582	chr2:209021371-209021372	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs117602648	chr2:209021421-209021422	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs16840606	chr2:209021457-209021458	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs180778507	chr2:209021486-209021487	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs185886697	chr2:209021488-209021489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189614844	chr2:209021521-209021522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs16840611	chr2:209021523-209021524	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs574910022	chr2:209021534-209021535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs540587072	chr2:209021586-209021587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560578235	chr2:209021587-209021588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs139782294	chr2:209021601-209021602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546734437	chr2:209021604-209021605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79759452	chr2:209021623-209021624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs796273	chr2:209021625-209021626	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Breast cancer	17603634	CNVD
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
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
Glioblastoma	21080181	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
Papillary thyroid carcinoma	22161024	CNVD
Cervical cancer	21062161	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209020400-209021400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:209021000-209021600	Enhancers	HMEC	breast
3	chr2:209021600-209021800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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