Variant report

Variant	nsv522376
Chromosome Location	chr20:12730872-12771339
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPTLC3-8	chr20:12743475-12745586	NONHSAT078657
2	lnc-SPTLC3-8	chr20:12740218-12743211	NONHSAT078657

Extended variants
information (count: 1553 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:1553 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6041595	chr20:12730872-12730873	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs78800746	chr20:12730900-12730901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376925231	chr20:12730906-12730907	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187007089	chr20:12730921-12730922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2210567	chr20:12730948-12730949	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371378100	chr20:12730951-12730952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148317075	chr20:12730956-12730957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34686601	chr20:12730992-12730993	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372474915	chr20:12730998-12730999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555993169	chr20:12731015-12731016	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575859154	chr20:12731021-12731022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529277231	chr20:12731043-12731044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141993698	chr20:12731065-12731066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557854762	chr20:12731142-12731143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs577994234	chr20:12731150-12731151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200276475	chr20:12731164-12731165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540308160	chr20:12731168-12731169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560235582	chr20:12731177-12731178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191785475	chr20:12731205-12731206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542422238	chr20:12731236-12731237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184178427	chr20:12731238-12731239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531505281	chr20:12731283-12731284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73092332	chr20:12731307-12731308	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs571140581	chr20:12731345-12731346	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527314862	chr20:12731399-12731400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547489895	chr20:12731408-12731409	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567387543	chr20:12731416-12731417	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189530460	chr20:12731449-12731450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555676788	chr20:12731453-12731454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs535329320	chr20:12731476-12731477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182043986	chr20:12731554-12731555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551680668	chr20:12731644-12731645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs571851937	chr20:12731645-12731646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145858151	chr20:12731687-12731688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577586865	chr20:12731742-12731743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6033509	chr20:12731776-12731777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550265459	chr20:12731778-12731779	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375764789	chr20:12731806-12731807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs553808454	chr20:12731815-12731816	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573797895	chr20:12731844-12731845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543155298	chr20:12731889-12731890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562534509	chr20:12731898-12731899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149178937	chr20:12731913-12731914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113814842	chr20:12731927-12731928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs536735767	chr20:12731962-12731963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565210259	chr20:12731965-12731966	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6109536	chr20:12731969-12731970	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs529685650	chr20:12731970-12731971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6078744	chr20:12731976-12731977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547427271	chr20:12732040-12732041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Glaucoma	21310917	CNVD
Alagille syndrome	22470819	CNVD
Lung cancer	16773561	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelofibrosis	22110671	CNVD
Kabuki syndrome	21720541	CNVD
Glioblastoma multiforme	22286061	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neurocytoma	17123091	CNVD
Autism	22102821	CNVD
Acute lymphoblastic leukemia	20435627	CNVD

Chromatin state (count:247 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:12728000-12732000	Enhancers	H9 Cell Line	embryonic stem cell
2	chr20:12728600-12733000	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr20:12728600-12733000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr20:12728800-12733200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr20:12729600-12733200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr20:12729800-12731200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr20:12729800-12740800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr20:12730000-12731000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr20:12730000-12732600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr20:12730200-12732000	Enhancers	Fetal Muscle Leg	muscle
11	chr20:12730400-12731800	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr20:12730400-12732600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr20:12730600-12731000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr20:12731000-12731600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr20:12731000-12732000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr20:12731000-12732000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr20:12731200-12732000	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr20:12731200-12732000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr20:12731600-12732600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr20:12731800-12732800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr20:12732000-12732800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr20:12732000-12732800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr20:12732000-12733200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr20:12732000-12734200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr20:12732000-12734600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr20:12732600-12732800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr20:12732600-12733200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr20:12732600-12734000	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr20:12732800-12733200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr20:12732800-12733200	Enhancers	H9 Cell Line	embryonic stem cell
31	chr20:12732800-12734200	Enhancers	H1 Cell Line	embryonic stem cell
32	chr20:12732800-12734200	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr20:12733000-12733600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr20:12733000-12733800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr20:12733200-12733600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr20:12733200-12733600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr20:12733200-12733600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr20:12733200-12733600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr20:12733200-12734400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr20:12733200-12738600	Active TSS	H9 Cell Line	embryonic stem cell
41	chr20:12733600-12734000	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr20:12733600-12734000	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr20:12733600-12734000	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr20:12733600-12734000	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr20:12733600-12734800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr20:12733800-12736800	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr20:12734000-12734400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr20:12734000-12734400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr20:12734000-12734400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr20:12734000-12734400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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