Variant report

Variant	esv3451365
Chromosome Location	chr2:186410207-186412305
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	chr2:186411283-186411299	NONHSAT075962
2	lnc-FSIP2-5	chr2:186410628-186411001	NONHSAT075962
3	lnc-FSIP2-5	chr2:186411316-186411619	NONHSAT075962
4	lnc-FSIP2-5	chr2:186410448-186410599	NONHSAT075962

Extended variants
information (count: 112 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563658591	chr2:186410210-186410211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs113217356	chr2:186410230-186410231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531063313	chr2:186410237-186410238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552744935	chr2:186410247-186410248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10931182	chr2:186410296-186410297	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs535216471	chr2:186410318-186410319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs557899605	chr2:186410343-186410344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547203094	chr2:186410383-186410384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs576191566	chr2:186410426-186410427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs71405631	chr2:186410437-186410438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs75883150	chr2:186410447-186410448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565764660	chr2:186410477-186410478	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs536276474	chr2:186410481-186410482	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs55908230	chr2:186410549-186410550	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs577174436	chr2:186410566-186410567	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs373974998	chr2:186410620-186410621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183676975	chr2:186410656-186410657	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs142438255	chr2:186410659-186410660	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs113806168	chr2:186410683-186410684	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs188682711	chr2:186410736-186410737	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs376804368	chr2:186410757-186410758	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs115765939	chr2:186410768-186410769	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs561882231	chr2:186410826-186410827	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs6731561	chr2:186410869-186410870	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs559438959	chr2:186410884-186410885	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs574562662	chr2:186410893-186410894	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs541822548	chr2:186410896-186410897	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs563299305	chr2:186410919-186410920	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs150910138	chr2:186410946-186410947	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs577266931	chr2:186411012-186411013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376548340	chr2:186411013-186411014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564779570	chr2:186411014-186411015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528712629	chr2:186411035-186411036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540792780	chr2:186411036-186411037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547181090	chr2:186411037-186411038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114666064	chr2:186411045-186411046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6718332	chr2:186411049-186411050	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs527600662	chr2:186411056-186411057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548297700	chr2:186411063-186411064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569597512	chr2:186411065-186411066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs549361358	chr2:186411071-186411072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113028372	chr2:186411075-186411076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201157290	chr2:186411081-186411082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71407823	chr2:186411089-186411090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200556688	chr2:186411095-186411096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537031295	chr2:186411099-186411100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558615668	chr2:186411102-186411103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147729776	chr2:186411113-186411114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534540338	chr2:186411114-186411115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557305267	chr2:186411119-186411120	Weak transcription	n/a	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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