Variant report

Variant	nsv1063804
Chromosome Location	chr20:12798763-12890603
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:35)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:35 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPTLC3-6	chr20:12878964-12879409	l_2074_chr20:12878963-12880265_testes
2	lnc-TASP1-4	chr20:12853380-12853556	NONHSAT078658
3	lnc-TASP1-4	chr20:12882956-12883068	NR_109868
4	lnc-TASP1-4	chr20:12874995-12875149	XLOC_013657
5	lnc-TASP1-4	chr20:12821289-12822074	NONHSAT078658
6	lnc-TASP1-4	chr20:12873289-12874074	NR_109868
7	lnc-TASP1-4	chr20:12887643-12887764	NR_109868
8	lnc-TASP1-4	chr20:12845852-12846325	NR_109868
9	lnc-TASP1-4	chr20:12869467-12869584	NONHSAT078658
10	lnc-SPTLC3-6	chr20:12880099-12880312	l_2074_chr20:12878963-12880265_testes
11	lnc-TASP1-4	chr20:12887643-12887764	XLOC_013657
12	lnc-TASP1-4	chr20:12830956-12831068	NONHSAT078658
13	lnc-TASP1-11	chr20:12864459-12865019	l_2072_chr20:12863490-12865004_testes
14	lnc-TASP1-4	chr20:12874995-12875149	NR_109868
15	lnc-TASP1-4	chr20:12847152-12847253	NR_109868
16	lnc-SPTLC3-7	chr20:12865677-12865842	NONHSAT078660
17	lnc-TASP1-4	chr20:12873289-12874074	XLOC_013657
18	lnc-SPTLC3-7	chr20:12864687-12865004	NONHSAT078660
19	lnc-TASP1-4	chr20:12879048-12879134	NONHSAT078658
20	lnc-TASP1-4	chr20:12835643-12835764	NONHSAT078658
21	lnc-TASP1-11	chr20:12865380-12865975	l_2072_chr20:12863490-12865004_testes
22	lnc-SPTLC3-7	chr20:12866681-12867201	l_2073_chr20:12864458-12867201_testes
23	lnc-TASP1-4	chr20:12845850-12846325	XLOC_013657
24	lnc-SPTLC3-7	chr20:12865677-12865975	l_2073_chr20:12864458-12867201_testes
25	lnc-TASP1-4	chr20:12880413-12881167	NONHSAT078658
26	lnc-TASP1-4	chr20:12849277-12849369	NONHSAT078658
27	lnc-TASP1-4	chr20:12847152-12847253	XLOC_013657
28	lnc-TASP1-4	chr20:12882956-12883068	XLOC_013657
29	lnc-TASP1-11	chr20:12863491-12864122	l_2072_chr20:12863490-12865004_testes
30	lnc-SPTLC3-6	chr20:12880099-12880275	NONHSAT078661
31	lnc-SPTLC3-6	chr20:12878986-12879409	NONHSAT078661
32	lnc-TASP1-4	chr20:12873792-12873840	NONHSAT078658
33	lnc-TASP1-4	chr20:12822995-12823149	NONHSAT078658
34	lnc-SPTLC3-7	chr20:12864459-12865019	l_2073_chr20:12864458-12867201_testes
35	lnc-SPTLC3-7	chr20:12865976-12866101	l_2073_chr20:12864458-12867201_testes

No data

Extended variants
information (count: 1932 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:1932 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6134678	chr20:12802018-12802019	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs606769	chr20:12802030-12802031	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs577862381	chr20:12802038-12802039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs607133	chr20:12802070-12802071	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs553364525	chr20:12802096-12802097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182874534	chr20:12802159-12802160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553264233	chr20:12802187-12802188	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs113917234	chr20:12802225-12802226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs141619530	chr20:12802232-12802233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556029467	chr20:12802309-12802310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs59607617	chr20:12802344-12802345	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs568475770	chr20:12802361-12802362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs377470718	chr20:12802384-12802385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573329023	chr20:12802406-12802407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564775737	chr20:12802445-12802446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs34179708	chr20:12802472-12802473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs533475227	chr20:12802481-12802482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370568334	chr20:12802496-12802497	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375362907	chr20:12802512-12802513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540963223	chr20:12802543-12802544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545585628	chr20:12802546-12802547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34399553	chr20:12802587-12802588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs150502823	chr20:12802595-12802596	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs114791336	chr20:12802605-12802606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536404908	chr20:12802619-12802620	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs74178011	chr20:12802622-12802623	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs569260926	chr20:12802626-12802627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs6131392	chr20:12802694-12802695	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs138391361	chr20:12802757-12802758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs375378506	chr20:12802841-12802842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs76253628	chr20:12802869-12802870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558459941	chr20:12802880-12802881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs369582904	chr20:12802902-12802903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149260701	chr20:12802931-12802932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs74495395	chr20:12802968-12802969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566917274	chr20:12802979-12802980	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs544206387	chr20:12802989-12802990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560902480	chr20:12802994-12802995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs187063999	chr20:12802995-12802996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs845594	chr20:12802998-12802999	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs544761131	chr20:12803027-12803028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558053037	chr20:12803037-12803038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs578232073	chr20:12803054-12803055	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6109565	chr20:12803072-12803073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540926568	chr20:12803085-12803086	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560808722	chr20:12803106-12803107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529262693	chr20:12803112-12803113	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113183853	chr20:12803139-12803140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140128887	chr20:12803165-12803166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531728087	chr20:12803166-12803167	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:12802000-12803000	Enhancers	Ovary	ovary
2	chr20:12802000-12803200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr20:12802000-12804000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr20:12802000-12806600	Enhancers	Fetal Muscle Leg	muscle
5	chr20:12802200-12804400	Enhancers	Right Atrium	heart
6	chr20:12802400-12802800	Enhancers	H1 Cell Line	embryonic stem cell
7	chr20:12803000-12804000	Weak transcription	Ovary	ovary
8	chr20:12803000-12804400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr20:12804000-12806600	Enhancers	Ovary	ovary
10	chr20:12804200-12804400	Enhancers	Lung	lung
11	chr20:12804200-12806000	Enhancers	Brain Germinal Matrix	brain
12	chr20:12804200-12806200	Enhancers	Fetal Stomach	stomach
13	chr20:12804400-12805800	Weak transcription	Lung	lung
14	chr20:12804400-12806400	Weak transcription	Right Atrium	heart
15	chr20:12804600-12805200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr20:12804800-12805200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr20:12804800-12805200	Enhancers	Brain Substantia Nigra	brain
18	chr20:12804800-12806400	Enhancers	Fetal Lung	lung
19	chr20:12804800-12806600	Enhancers	Fetal Brain Female	brain
20	chr20:12805400-12805800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr20:12805400-12806000	Enhancers	Colon Smooth Muscle	Colon
22	chr20:12805600-12806400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr20:12805800-12806000	Enhancers	Fetal Muscle Trunk	muscle
24	chr20:12805800-12806600	Enhancers	Lung	lung
25	chr20:12806000-12806200	Enhancers	Stomach Smooth Muscle	stomach
26	chr20:12806000-12806400	Enhancers	Fetal Brain Male	brain
27	chr20:12806000-12806400	Active TSS	Fetal Muscle Trunk	muscle
28	chr20:12806000-12808600	Weak transcription	Brain Germinal Matrix	brain
29	chr20:12806400-12806600	Enhancers	Fetal Muscle Trunk	muscle
30	chr20:12806400-12806600	Enhancers	Right Atrium	heart
31	chr20:12806400-12808000	Weak transcription	Fetal Brain Male	brain
32	chr20:12806600-12808400	Weak transcription	Fetal Muscle Leg	muscle
33	chr20:12806600-12809400	Weak transcription	Fetal Brain Female	brain
34	chr20:12808000-12810200	Enhancers	Fetal Brain Male	brain
35	chr20:12808400-12808600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
36	chr20:12808400-12808800	Enhancers	Fetal Muscle Leg	muscle
37	chr20:12808400-12809000	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr20:12808400-12809000	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr20:12808400-12809000	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr20:12808400-12809400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr20:12808600-12809400	Enhancers	Brain Germinal Matrix	brain
42	chr20:12808600-12818200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr20:12808800-12809800	Weak transcription	Fetal Muscle Leg	muscle
44	chr20:12809000-12816400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr20:12809400-12809800	Enhancers	Fetal Brain Female	brain
46	chr20:12809400-12810200	Weak transcription	Brain Germinal Matrix	brain
47	chr20:12810000-12810200	Enhancers	Fetal Muscle Leg	muscle
48	chr20:12810200-12810600	Enhancers	Brain Germinal Matrix	brain
49	chr20:12815400-12815600	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr20:12815600-12816200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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