Variant report

Variant	nsv962092
Chromosome Location	chr2:187000376-187014334
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZSWIM2-3	chr2:187002952-187003542	NONHSAT075981
2	lnc-ZSWIM2-3	chr2:187006495-187007373	NONHSAT075981
3	lnc-FSIP2-1	chr2:187001824-187002215	XLOC_001781
4	lnc-FSIP2-1	chr2:186999554-187000911	XLOC_001781

Variant related genes	Relation type
SNAI2	miRNA target sites

Extended variants
information (count: 216 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:216 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73979269	chr2:187000408-187000409	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs71432441	chr2:187000522-187000523	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs370901661	chr2:187000528-187000529	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
4	rs537867384	chr2:187000532-187000533	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs531122576	chr2:187000686-187000687	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs533165007	chr2:187000695-187000696	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs375785965	chr2:187000700-187000701	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs560890390	chr2:187000744-187000745	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs531334897	chr2:187000780-187000781	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs549514567	chr2:187000874-187000875	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs149510882	chr2:187000914-187000915	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs72899852	chr2:187000934-187000935	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs144264498	chr2:187001015-187001016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12693436	chr2:187001076-187001077	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs536884020	chr2:187001136-187001137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140084816	chr2:187001164-187001165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs373562064	chr2:187001178-187001179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs367737346	chr2:187001222-187001223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537403163	chr2:187001230-187001231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558687197	chr2:187001307-187001308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577232995	chr2:187001340-187001341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143555032	chr2:187001380-187001381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs554297268	chr2:187001408-187001409	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571892434	chr2:187001438-187001439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs542461239	chr2:187001439-187001440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs13383010	chr2:187001457-187001458	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs576267080	chr2:187001487-187001488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs74442084	chr2:187001560-187001561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs180907918	chr2:187001563-187001564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532164885	chr2:187001626-187001627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs112886793	chr2:187001771-187001772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs75727741	chr2:187001812-187001813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139548218	chr2:187001820-187001821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs559528296	chr2:187001861-187001862	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs184960855	chr2:187001880-187001881	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs548801109	chr2:187001884-187001885	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs188662847	chr2:187001944-187001945	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs544908633	chr2:187002025-187002026	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs181148271	chr2:187002056-187002057	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs552516129	chr2:187002067-187002068	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs142968847	chr2:187002090-187002091	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs534729949	chr2:187002093-187002094	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs186034354	chr2:187002125-187002126	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs191578173	chr2:187002133-187002134	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs574597054	chr2:187002153-187002154	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs536001684	chr2:187002163-187002164	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs554484049	chr2:187002189-187002190	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs111542016	chr2:187002237-187002238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs576261267	chr2:187002251-187002252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543333464	chr2:187002278-187002279	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
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
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164919	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:186996000-187000400	Weak transcription	Colon Smooth Muscle	Colon
2	chr2:186998000-187003600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:187000000-187000600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr2:187000200-187000600	Enhancers	HepG2	liver
5	chr2:187000400-187001800	Enhancers	Colon Smooth Muscle	Colon
6	chr2:187000600-187001000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:187000600-187005600	Weak transcription	HepG2	liver
8	chr2:187001800-187004000	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:187003600-187004800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:187003600-187007600	Weak transcription	Psoas Muscle	Psoas
11	chr2:187003800-187004800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:187004200-187004400	Enhancers	Colon Smooth Muscle	Colon
13	chr2:187004200-187004600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr2:187005600-187006200	Enhancers	HepG2	liver

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