Variant report

Variant	nsv947792
Chromosome Location	chr10:28193069-28196548
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr10:28196308-28196605	HepG2	liver:	n/a	chr10:28196462-28196473 chr10:28196463-28196472
2	CEBPB	chr10:28196422-28196551	K562	blood:	n/a	chr10:28196462-28196473 chr10:28196463-28196472
3	CEBPB	chr10:28196399-28196599	Hela-S3	cervix:	n/a	chr10:28196462-28196473 chr10:28196463-28196472
4	CEBPB	chr10:28196351-28196607	IMR90	lung:	n/a	chr10:28196462-28196473 chr10:28196463-28196472
5	CTCF	chr10:28193211-28193276	Fibrobl	skin:	n/a	n/a
6	POLR2A	chr10:28193238-28193285	A549	lung:	n/a	n/a
7	POLR2A	chr10:28193231-28193236	A549	lung:	n/a	n/a
8	USF1	chr10:28196013-28196336	H1-hESC	embryonic stem cell:	n/a	chr10:28196152-28196163
9	USF1	chr10:28195988-28196271	H1-hESC	embryonic stem cell:	n/a	chr10:28196152-28196163
10	USF1	chr10:28196083-28196224	HepG2	liver:	n/a	chr10:28196152-28196163

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:28194965..28197519-chr10:28200097..28202641,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RAB18-5	chr10:28193138-28193278	NONHSAT011918
2	lnc-RAB18-5	chr10:28193928-28194091	NONHSAT011918

Variant related genes	Relation type
RPL36AP55	TF binding region

Extended variants
information (count: 139 )
Associated
traits (count: 45 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192966269	chr10:28193087-28193088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573109859	chr10:28193098-28193099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540115299	chr10:28193134-28193135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562115444	chr10:28193141-28193142	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs529315469	chr10:28193166-28193167	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs550944092	chr10:28193181-28193182	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs182751462	chr10:28193232-28193233	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs544269082	chr10:28193242-28193243	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs147832934	chr10:28193243-28193244	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs552023349	chr10:28193251-28193252	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs567034272	chr10:28193255-28193256	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs370340992	chr10:28193256-28193257	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs549461297	chr10:28193258-28193259	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs2368274	chr10:28193276-28193277	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs535141535	chr10:28193312-28193313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187041250	chr10:28193383-28193384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575017512	chr10:28193412-28193413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539113185	chr10:28193429-28193430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557542781	chr10:28193441-28193442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150441402	chr10:28193462-28193463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs540418366	chr10:28193471-28193472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs555415070	chr10:28193483-28193484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573864507	chr10:28193499-28193500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs138218825	chr10:28193503-28193504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562840020	chr10:28193536-28193537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191453532	chr10:28193650-28193651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs545476517	chr10:28193658-28193659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2003191	chr10:28193659-28193660	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs565441900	chr10:28193703-28193704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549542021	chr10:28193761-28193762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567895314	chr10:28193850-28193851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149577425	chr10:28193865-28193866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550178122	chr10:28193880-28193881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568475036	chr10:28193886-28193887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs880706	chr10:28193887-28193888	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs557475908	chr10:28193888-28193889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs143244885	chr10:28193906-28193907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529467364	chr10:28193990-28193991	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs533780805	chr10:28193996-28193997	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs183597539	chr10:28194107-28194108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573872199	chr10:28194219-28194220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544481259	chr10:28194343-28194344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200513953	chr10:28194364-28194365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs578036117	chr10:28194420-28194421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547840599	chr10:28194433-28194434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560417869	chr10:28194439-28194440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527767155	chr10:28194473-28194474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542877554	chr10:28194474-28194475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190815571	chr10:28194481-28194482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531892760	chr10:28194498-28194499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:45)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Autism	21439084	CNVD
Maculopathy	20981449	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD
abnormal development	18461090	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	22341455	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:28188400-28214000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr10:28189000-28197800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr10:28195600-28195800	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
4	chr10:28195600-28195800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
5	chr10:28195800-28203800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr10:28196000-28196400	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr10:28196200-28196400	Enhancers	Fetal Lung	lung
8	chr10:28196200-28196600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr10:28196200-28196600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr10:28196200-28196600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr10:28196400-28197000	Weak transcription	Fetal Lung	lung
12	chr10:28196400-28197400	Enhancers	HepG2	liver
13	chr10:28196400-28199600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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