Variant report

Variant	esv3413245
Chromosome Location	chr2:186407307-186411505
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FSIP2-5	chr2:186408484-186409210	NONHSAT075962
2	lnc-FSIP2-5	chr2:186411316-186411619	NONHSAT075962
3	lnc-FSIP2-5	chr2:186411283-186411299	NONHSAT075962
4	lnc-FSIP2-5	chr2:186410628-186411001	NONHSAT075962
5	lnc-FSIP2-5	chr2:186410448-186410599	NONHSAT075962

Extended variants
information (count: 174 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:174 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556567120	chr2:186407315-186407316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs578189574	chr2:186407374-186407375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551546253	chr2:186407381-186407382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11896364	chr2:186407415-186407416	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs182059621	chr2:186407477-186407478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531605121	chr2:186407483-186407484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375426592	chr2:186407485-186407486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541722909	chr2:186407604-186407605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs547002812	chr2:186407676-186407677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs186273499	chr2:186407698-186407699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549422288	chr2:186407736-186407737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369401290	chr2:186407740-186407741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7577383	chr2:186407758-186407759	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs573374642	chr2:186407764-186407765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543807923	chr2:186407782-186407783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549821740	chr2:186407903-186407904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562106646	chr2:186407946-186407947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113834969	chr2:186407949-186407950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532783935	chr2:186407961-186407962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138568889	chr2:186407985-186407986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149303701	chr2:186408036-186408037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562096941	chr2:186408092-186408093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560167518	chr2:186408097-186408098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527513556	chr2:186408186-186408187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549162578	chr2:186408253-186408254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567780288	chr2:186408254-186408255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34613797	chr2:186408296-186408297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190696295	chr2:186408300-186408301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs550207907	chr2:186408308-186408309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182655437	chr2:186408353-186408354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146318046	chr2:186408385-186408386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187075599	chr2:186408418-186408419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529336028	chr2:186408437-186408438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554484924	chr2:186408444-186408445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs190003620	chr2:186408451-186408452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35847686	chr2:186408456-186408457	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs72904248	chr2:186408508-186408509	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs573413171	chr2:186408525-186408526	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs539949200	chr2:186408537-186408538	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs555984278	chr2:186408550-186408551	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs138331568	chr2:186408571-186408572	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs544660231	chr2:186408599-186408600	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs551960342	chr2:186408614-186408615	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs560410219	chr2:186408622-186408623	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs182901962	chr2:186408628-186408629	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs570179332	chr2:186408657-186408658	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs72904250	chr2:186408664-186408665	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs561024219	chr2:186408707-186408708	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs188221432	chr2:186408710-186408711	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs550344168	chr2:186408799-186408800	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	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
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	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
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Autism	22543975	CNVD
Urothelial carcinoma	21177765	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186381400-186432400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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