Variant report

Variant	nsv526795
Chromosome Location	chr2:209020181-209021625
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: 63 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6758738	chr2:209020181-209020182	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs188935891	chr2:209020184-209020185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573639490	chr2:209020233-209020234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147095098	chr2:209020234-209020235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs58206896	chr2:209020235-209020236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs149555637	chr2:209020243-209020244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559993243	chr2:209020274-209020275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527293171	chr2:209020302-209020303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372471902	chr2:209020338-209020339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144295156	chr2:209020388-209020389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7594369	chr2:209020396-209020397	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs530830200	chr2:209020404-209020405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs112200316	chr2:209020412-209020413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs550739235	chr2:209020506-209020507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs79572512	chr2:209020510-209020511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs372857977	chr2:209020588-209020589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs79631336	chr2:209020598-209020599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530218485	chr2:209020601-209020602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549229695	chr2:209020618-209020619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565866750	chr2:209020621-209020622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534775918	chr2:209020653-209020654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs574977126	chr2:209020655-209020656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs558107065	chr2:209020682-209020683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs6712379	chr2:209020711-209020712	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs536658156	chr2:209020726-209020727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs144306213	chr2:209020761-209020762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs77229370	chr2:209020778-209020779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs74456590	chr2:209020821-209020822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552152593	chr2:209020825-209020826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs77718167	chr2:209020836-209020837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs796270	chr2:209020865-209020866	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs16840598	chr2:209020887-209020888	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs6712624	chr2:209020926-209020927	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs16840602	chr2:209020932-209020933	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs34783602	chr2:209021014-209021015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575888090	chr2:209021042-209021043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs535176217	chr2:209021111-209021112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs114460441	chr2:209021114-209021115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs75525873	chr2:209021141-209021142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs140056271	chr2:209021187-209021188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs75089309	chr2:209021205-209021206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs796271	chr2:209021232-209021233	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs78890386	chr2:209021236-209021237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs796272	chr2:209021301-209021302	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs537349117	chr2:209021314-209021315	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs192108289	chr2:209021324-209021325	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs183836854	chr2:209021353-209021354	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs188611577	chr2:209021359-209021360	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs114550653	chr2:209021364-209021365	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs80248582	chr2:209021371-209021372	Enhancers	lncRNA	n/a	Overlapped CNVs	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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:209013000-209020600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:209020400-209021400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:209020600-209020800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:209020800-209021000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:209021000-209021600	Enhancers	HMEC	breast
6	chr2:209021600-209021800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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