Variant report

Variant	nsv585433
Chromosome Location	chr20:12724326-12756660
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: 1527 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:1527 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6109533	chr20:12724326-12724327	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs553020195	chr20:12724364-12724365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535730796	chr20:12724389-12724390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555275859	chr20:12724434-12724435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs143809145	chr20:12724457-12724458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs56868992	chr20:12724460-12724461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189411797	chr20:12724463-12724464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181380512	chr20:12724473-12724474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147513342	chr20:12724513-12724514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs551656597	chr20:12724581-12724582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs36096278	chr20:12724599-12724600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577674258	chr20:12724665-12724666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546031673	chr20:12724667-12724668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559897820	chr20:12724668-12724669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528721131	chr20:12724682-12724683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542527978	chr20:12724704-12724705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562396030	chr20:12724721-12724722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6078742	chr20:12724742-12724743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74471921	chr20:12724757-12724758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34375841	chr20:12724790-12724791	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551011464	chr20:12724817-12724818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs185176099	chr20:12724859-12724860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533462156	chr20:12724870-12724871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73263167	chr20:12724886-12724887	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs188415711	chr20:12724949-12724950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144069978	chr20:12724967-12724968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs534038418	chr20:12724987-12724988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6041591	chr20:12725017-12725018	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369506108	chr20:12725040-12725041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144407696	chr20:12725055-12725056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs557735619	chr20:12725057-12725058	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577614592	chr20:12725060-12725061	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148714205	chr20:12725090-12725091	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6033507	chr20:12725101-12725102	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs117583628	chr20:12725147-12725148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542464702	chr20:12725189-12725190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561227446	chr20:12725233-12725234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs573220837	chr20:12725267-12725268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181847639	chr20:12725307-12725308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544571223	chr20:12725310-12725311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs186584168	chr20:12725325-12725326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs533204824	chr20:12725346-12725347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs115464914	chr20:12725351-12725352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs34710111	chr20:12725375-12725376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs560403493	chr20:12725394-12725395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs529018590	chr20:12725398-12725399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs201160638	chr20:12725399-12725400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs11469924	chr20:12725404-12725405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548772625	chr20:12725458-12725459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs6041592	chr20:12725486-12725487	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:53)

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

Chromatin state (count:254 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:12719400-12724400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr20:12720200-12728800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr20:12724000-12725600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr20:12724000-12725800	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr20:12724000-12728000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr20:12724200-12725000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
7	chr20:12724200-12725000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr20:12724400-12725200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr20:12724800-12725200	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr20:12725000-12725200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr20:12725000-12728800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr20:12725200-12726600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr20:12725200-12728600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr20:12725200-12728800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr20:12725600-12728600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr20:12725800-12726200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr20:12726200-12727400	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr20:12726600-12726800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr20:12726600-12727200	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr20:12727200-12728600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr20:12727400-12728800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr20:12728000-12732000	Enhancers	H9 Cell Line	embryonic stem cell
23	chr20:12728600-12728800	Enhancers	H1 Cell Line	embryonic stem cell
24	chr20:12728600-12730000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr20:12728600-12730400	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr20:12728600-12733000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr20:12728600-12733000	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr20:12728800-12729200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr20:12728800-12729400	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr20:12728800-12729400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr20:12728800-12729800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr20:12728800-12729800	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr20:12728800-12730000	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr20:12728800-12733200	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr20:12729000-12729600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr20:12729400-12729800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr20:12729400-12730600	Enhancers	H1 Cell Line	embryonic stem cell
38	chr20:12729600-12733200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr20:12729800-12730000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr20:12729800-12731200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr20:12729800-12740800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr20:12730000-12730400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr20:12730000-12731000	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr20:12730000-12732600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr20:12730200-12732000	Enhancers	Fetal Muscle Leg	muscle
46	chr20:12730400-12731800	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr20:12730400-12732600	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr20:12730600-12731000	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr20:12731000-12731600	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr20:12731000-12732000	Enhancers	H1 Cell Line	embryonic stem cell

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