Variant report

Variant	nsv520833
Chromosome Location	chr19:21314102-21314774
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:21312896..21314771-chr19:21323680..21326350,2	K562	blood:

Variant related genes	Relation type
ENSG00000196705	chromatin interactions

Extended variants
information (count: 35 )
Associated
traits (count: 38 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2115495	chr19:21314102-21314103	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs558289148	chr19:21314144-21314145	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs142767962	chr19:21314155-21314156	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs540672622	chr19:21314165-21314166	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs2115496	chr19:21314185-21314186	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs150622733	chr19:21314194-21314195	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs543723541	chr19:21314219-21314220	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs181599224	chr19:21314232-21314233	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs562415370	chr19:21314233-21314234	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs531418499	chr19:21314235-21314236	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs367561714	chr19:21314248-21314249	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs538077967	chr19:21314311-21314312	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs542869543	chr19:21314317-21314318	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs565038156	chr19:21314358-21314359	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs60878533	chr19:21314359-21314360	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs547402119	chr19:21314368-21314369	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs567128270	chr19:21314369-21314370	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs145317521	chr19:21314392-21314393	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs371434381	chr19:21314393-21314394	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs572679626	chr19:21314396-21314397	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs569528370	chr19:21314428-21314429	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs6511198	chr19:21314452-21314453	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs147613932	chr19:21314475-21314476	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs142120908	chr19:21314510-21314511	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs6511199	chr19:21314548-21314549	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs554168149	chr19:21314581-21314582	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs368002229	chr19:21314597-21314598	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs573974472	chr19:21314598-21314599	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs186072986	chr19:21314650-21314651	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs556048314	chr19:21314670-21314671	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs190671088	chr19:21314677-21314678	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs6511200	chr19:21314688-21314689	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs549753673	chr19:21314698-21314699	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs564916438	chr19:21314744-21314745	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs6511201	chr19:21314774-21314775	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:38)

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

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:21312000-21314200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr19:21313000-21316800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr19:21313800-21314200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr19:21314000-21314200	Enhancers	HepG2	liver
5	chr19:21314000-21314400	Enhancers	Placenta Amnion	Placenta Amnion
6	chr19:21314200-21316800	Weak transcription	HepG2	liver
7	chr19:21314400-21316400	Weak transcription	Placenta Amnion	Placenta Amnion

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