Variant report

Variant	esv1812144
Chromosome Location	chr5:177120697-177138298
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-1026M7.2.1-2	chr5:177133707-177133886	ENSG00000249849.1

Extended variants
information (count: 68 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10060053	chr5:177120697-177120698	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572590308	chr5:177120760-177120761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181932791	chr5:177120763-177120764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532332505	chr5:177120789-177120790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550833934	chr5:177120790-177120791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371939749	chr5:177120795-177120796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569989236	chr5:177120796-177120797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537449121	chr5:177120799-177120800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549500569	chr5:177120819-177120820	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567730294	chr5:177120820-177120821	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535255620	chr5:177120829-177120830	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs115797571	chr5:177120851-177120852	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs4046148	chr5:177120852-177120853	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs141414649	chr5:177120922-177120923	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2878302	chr5:177120926-177120927	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs557629943	chr5:177120927-177120928	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575136042	chr5:177120928-177120929	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138889123	chr5:177120957-177120958	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs149404176	chr5:177120970-177120971	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572574386	chr5:177120988-177120989	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539918458	chr5:177120993-177120994	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2334995	chr5:177121008-177121009	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs2334994	chr5:177121053-177121054	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs564772004	chr5:177121084-177121085	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs532322572	chr5:177121259-177121260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373486868	chr5:177121271-177121272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562753254	chr5:177121305-177121306	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530818085	chr5:177121321-177121322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs375757279	chr5:177121350-177121351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567645599	chr5:177121468-177121469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528634121	chr5:177121542-177121543	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112191760	chr5:177121755-177121756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs111736535	chr5:177121756-177121757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs368827763	chr5:177121791-177121792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373488003	chr5:177121803-177121804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547109625	chr5:177121945-177121946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs571795676	chr5:177121964-177121965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs377603915	chr5:177122011-177122012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187669208	chr5:177122018-177122019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557380907	chr5:177122029-177122030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs2650335	chr5:177122073-177122074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569498610	chr5:177122094-177122095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs535865680	chr5:177122112-177122113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs377046656	chr5:177122125-177122126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs559064869	chr5:177133806-177133807	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs1696909	chr5:177133829-177133830	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs556599467	chr5:177133839-177133840	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs575114966	chr5:177133855-177133856	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs572094399	chr5:177137414-177137415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185623057	chr5:177137424-177137425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	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
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
Autism	20841430	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Ependymoma	20639864	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177117600-177121000	Weak transcription	K562	blood
2	chr5:177119800-177120800	Enhancers	HepG2	liver
3	chr5:177119800-177121000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr5:177119800-177121200	Enhancers	Fetal Lung	lung
5	chr5:177120400-177121000	Enhancers	Left Ventricle	heart
6	chr5:177120400-177121000	Enhancers	Stomach Mucosa	stomach
7	chr5:177120600-177121000	Enhancers	Liver	Liver
8	chr5:177120600-177121000	Enhancers	Duodenum Mucosa	Duodenum
9	chr5:177120600-177121000	Enhancers	Rectal Mucosa Donor 29	rectum
10	chr5:177120800-177121200	Enhancers	Ovary	ovary
11	chr5:177120800-177121200	Flanking Active TSS	HepG2	liver
12	chr5:177120800-177122000	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr5:177121000-177121400	Enhancers	K562	blood
14	chr5:177121200-177122200	Enhancers	HepG2	liver
15	chr5:177121400-177121600	Weak transcription	K562	blood
16	chr5:177121600-177122000	Enhancers	K562	blood
17	chr5:177137400-177142000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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