Variant report

Variant	nsv138061
Chromosome Location	chr19:21818959-21828721
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	chr19:21825311-21825337	HepG2	liver:	n/a	chr19:21825317-21825328
2	CEBPB	chr19:21825264-21825366	K562	blood:	n/a	chr19:21825317-21825328
3	CTCF	chr19:21828200-21828350	HFF-Myc	foreskin:	n/a	n/a
4	POLR2A	chr19:21821085-21821150	K562	blood:	n/a	n/a
5	STAT1	chr19:21819475-21819499	GM12878	blood:	n/a	n/a
6	ZNF384	chr19:21826982-21826997	K562	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF429-4	chr19:21819782-21820141	NONHSAT063734

Variant related genes	Relation type
ENSG00000268278	TF binding region
ENSG00000271182	TF binding region

Extended variants
information (count: 595 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:595 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373665567	chr19:21818961-21818962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs58926102	chr19:21818963-21818964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377611689	chr19:21818965-21818966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370972702	chr19:21818969-21818970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141265348	chr19:21818971-21818972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201641739	chr19:21818972-21818973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs58508462	chr19:21818974-21818975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs58794508	chr19:21818976-21818977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs71333834	chr19:21818977-21818978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376450609	chr19:21818979-21818980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375414454	chr19:21818981-21818982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs58941396	chr19:21818982-21818983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373569444	chr19:21819005-21819006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375198488	chr19:21819009-21819010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs80323239	chr19:21819054-21819055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141447432	chr19:21819060-21819061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559381204	chr19:21819103-21819104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs939305	chr19:21819108-21819109	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs530472522	chr19:21819116-21819117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150426717	chr19:21819131-21819132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs79324297	chr19:21819203-21819204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377527985	chr19:21819210-21819211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370490621	chr19:21819211-21819212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373604576	chr19:21819212-21819213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377566073	chr19:21819213-21819214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs5827511	chr19:21819214-21819215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs74612254	chr19:21819223-21819224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs75726095	chr19:21819227-21819228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs78709618	chr19:21819239-21819240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs939304	chr19:21819263-21819264	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs78295807	chr19:21819264-21819265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181416393	chr19:21819320-21819321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76148344	chr19:21819348-21819349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs79233783	chr19:21819351-21819352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs75627785	chr19:21819353-21819354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528472329	chr19:21819354-21819355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546718325	chr19:21819360-21819361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs76532565	chr19:21819379-21819380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147180250	chr19:21819389-21819390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs148639816	chr19:21819392-21819393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs78464021	chr19:21819412-21819413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78356990	chr19:21819426-21819427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557436067	chr19:21819435-21819436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570505741	chr19:21819459-21819460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569437586	chr19:21819471-21819472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114024981	chr19:21819544-21819545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs555277594	chr19:21819561-21819562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530144916	chr19:21819580-21819581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573611252	chr19:21819604-21819605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541021279	chr19:21819613-21819614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
ovarian endometriomas	16273235	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Cervical cancer	21063398	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Colorectal cancer	20459617	CNVD
small cell lung cancer	20016488	CNVD
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Cancer	20164920	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21813200-21821400	Weak transcription	Ovary	ovary
2	chr19:21817000-21819400	Weak transcription	Right Ventricle	heart
3	chr19:21817200-21827200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr19:21817400-21827200	Weak transcription	Fetal Intestine Small	intestine
5	chr19:21818000-21840000	Weak transcription	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links