Variant report

Variant	nsv670
Chromosome Location	chr12:33458451-33503100
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:3)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:33473127..33474960-chr12:33481673..33483733,2	MCF-7	breast:
2	chr12:33503016..33505110-chr12:33507527..33510492,2	MCF-7	breast:
3	chr12:33473127..33474960-chr12:33481673..33483733,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SYT10-1	chr12:33466705-33466743	NONHSAT027638
2	lnc-DNM1L-2	chr12:33470704-33470823	XLOC_009706
3	lnc-SYT10-1	chr12:33466706-33466743	XLOC_010048
4	lnc-SYT10-1	chr12:33470301-33470504	XLOC_010048
5	lnc-DNM1L-2	chr12:33475124-33475320	XLOC_009706
6	lnc-SYT10-1	chr12:33470300-33470504	NONHSAT027638

No data

Variant related genes	Relation type
TAF15	miRNA target sites
LGR4	miRNA target sites

Extended variants
information (count: 720 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:720 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560227766	chr12:33458534-33458535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11052606	chr12:33458537-33458538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184620314	chr12:33458568-33458569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140369557	chr12:33458623-33458624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs189487669	chr12:33458627-33458628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539546279	chr12:33458634-33458635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150372725	chr12:33458655-33458656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557838646	chr12:33458678-33458679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs13377954	chr12:33458754-33458755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs13377955	chr12:33458768-33458769	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs534165502	chr12:33458809-33458810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149454668	chr12:33458837-33458838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181485692	chr12:33458845-33458846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73308127	chr12:33458850-33458851	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs556148504	chr12:33458862-33458863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575994184	chr12:33458870-33458871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs538768929	chr12:33458875-33458876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558817512	chr12:33458899-33458900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139504320	chr12:33458901-33458902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369806932	chr12:33458912-33458913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs202050508	chr12:33458913-33458914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200498104	chr12:33458915-33458916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs61929592	chr12:33458919-33458920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184408105	chr12:33458941-33458942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs59451158	chr12:33458947-33458948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79848612	chr12:33458955-33458956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572491779	chr12:33458978-33458979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113260189	chr12:33459023-33459024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs142975507	chr12:33459024-33459025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573991852	chr12:33459050-33459051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189118903	chr12:33459056-33459057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs78510469	chr12:33459068-33459069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181781602	chr12:33459093-33459094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531358764	chr12:33459095-33459096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545008851	chr12:33459096-33459097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564873635	chr12:33459136-33459137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372617638	chr12:33459138-33459139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs527379060	chr12:33459174-33459175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs547678682	chr12:33459194-33459195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567807923	chr12:33459235-33459236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs146111753	chr12:33459247-33459248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550033270	chr12:33459281-33459282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557045395	chr12:33459310-33459311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113784805	chr12:33459311-33459312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs4514512	chr12:33459356-33459357	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs538686617	chr12:33459390-33459391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs112091639	chr12:33459400-33459401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558906938	chr12:33459409-33459410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs145557791	chr12:33459410-33459411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs386761959	chr12:33459413-33459414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chordoma	18071362	CNVD
Lung cancer	18438408	CNVD
Cancer	21272361	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Tetralogy of Fallot	22912587	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:33449400-33459600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:33459000-33459800	Enhancers	Ovary	ovary
3	chr12:33459400-33459600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:33459600-33459800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:33459600-33460000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:33459600-33460600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr12:33460000-33461400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:33460400-33460800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:33460400-33461600	Enhancers	H1 Cell Line	embryonic stem cell
10	chr12:33461000-33461800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr12:33463000-33463600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:33463200-33463400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:33463600-33463800	Enhancers	H1 Cell Line	embryonic stem cell
14	chr12:33466400-33466800	Enhancers	Placenta Amnion	Placenta Amnion
15	chr12:33466600-33468400	Enhancers	Fetal Intestine Large	intestine
16	chr12:33467000-33467800	Enhancers	Placenta	Placenta
17	chr12:33467400-33468000	Enhancers	Fetal Intestine Small	intestine
18	chr12:33467600-33469200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:33468400-33469400	Weak transcription	Fetal Intestine Large	intestine
20	chr12:33469200-33472400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:33469400-33471800	Enhancers	Fetal Intestine Large	intestine
22	chr12:33470600-33471800	Enhancers	Fetal Intestine Small	intestine
23	chr12:33471800-33477000	Weak transcription	Fetal Intestine Large	intestine
24	chr12:33472400-33473600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:33475400-33475800	Enhancers	Fetal Brain Male	brain
26	chr12:33475400-33475800	Enhancers	K562	blood
27	chr12:33475600-33475800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:33475800-33477200	Weak transcription	Fetal Brain Male	brain
29	chr12:33477000-33477800	Enhancers	Fetal Intestine Large	intestine
30	chr12:33477200-33477800	Enhancers	Fetal Brain Male	brain
31	chr12:33483400-33484200	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr12:33484000-33485200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr12:33484600-33485000	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr12:33484800-33485200	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr12:33484800-33485200	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr12:33484800-33485200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr12:33485000-33485200	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr12:33493800-33494600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:33495800-33496600	Enhancers	Fetal Intestine Large	intestine

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