Variant report

Variant	esv3409953
Chromosome Location	chr19:44291462-44293710
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:44267187..44269964-chr19:44291691..44294557,2	MCF-7	breast:
2	chr19:44293403..44294999-chr19:44310086..44311821,2	K562	blood:
3	chr19:44287294..44289449-chr19:44292434..44295257,2	MCF-7	breast:
4	chr19:44256154..44259094-chr19:44292665..44294784,3	K562	blood:
5	chr19:44235650..44238145-chr19:44290360..44292813,2	K562	blood:
6	chr19:44289645..44292572-chr19:44300661..44302875,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000159871	chromatin interactions
ENSG00000105771	chromatin interactions

Extended variants
information (count: 96 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551521998	chr19:44291464-44291465	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs71338706	chr19:44291472-44291473	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs71338707	chr19:44291475-44291476	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs144979699	chr19:44291485-44291486	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs1971985	chr19:44291569-44291570	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs181380734	chr19:44291591-44291592	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs529853511	chr19:44291610-44291611	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs376672678	chr19:44291612-44291613	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs536706082	chr19:44291620-44291621	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs550354750	chr19:44291659-44291660	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs185992569	chr19:44291667-44291668	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs190710863	chr19:44291710-44291711	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs35483185	chr19:44291728-44291729	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs552611084	chr19:44291747-44291748	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs576761730	chr19:44291749-44291750	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs34898036	chr19:44291750-44291751	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs397859707	chr19:44291761-44291762	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs566396128	chr19:44291810-44291811	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs534677461	chr19:44291836-44291837	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs560332146	chr19:44291863-44291864	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs546619915	chr19:44291870-44291871	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs114456679	chr19:44291878-44291879	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs181713783	chr19:44291887-44291888	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs1545966	chr19:44291946-44291947	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs368746200	chr19:44291965-44291966	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs62116964	chr19:44291986-44291987	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs186376323	chr19:44292006-44292007	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs111692336	chr19:44292040-44292041	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs73555076	chr19:44292044-44292045	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs572413195	chr19:44292048-44292049	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs138252118	chr19:44292114-44292115	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs61013802	chr19:44292142-44292143	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs12463370	chr19:44292166-44292167	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs12463346	chr19:44292244-44292245	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs202027371	chr19:44292248-44292249	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs112137741	chr19:44292251-44292252	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs563871562	chr19:44292253-44292254	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs57923969	chr19:44292269-44292270	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs397949075	chr19:44292270-44292271	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs58068129	chr19:44292341-44292342	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs546406206	chr19:44292377-44292378	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs566202995	chr19:44292381-44292382	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs182379357	chr19:44292391-44292392	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs187867324	chr19:44292394-44292395	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs375266275	chr19:44292405-44292406	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs58699985	chr19:44292408-44292409	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs371315989	chr19:44292409-44292410	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs376736995	chr19:44292411-44292412	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs369789395	chr19:44292413-44292414	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs55762280	chr19:44292415-44292416	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	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
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Astrocytoma	22246337	CNVD
Ovarian cancer	22174824	CNVD
Cancer	20164920	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	20800559	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Spondylocostal dysostosis	21085971	CNVD
Nicotine metabolism	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	20459617	CNVD
Lung squamous cell carcinoma	22363434	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44289400-44302600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr19:44289600-44293000	Weak transcription	GM12878-XiMat	blood
3	chr19:44289600-44294800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr19:44289600-44295400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr19:44289800-44300800	Weak transcription	Placenta	Placenta
6	chr19:44290000-44302400	Weak transcription	NHEK	skin
7	chr19:44290200-44302200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr19:44291400-44293200	Weak transcription	HMEC	breast
9	chr19:44293000-44293200	Enhancers	GM12878-XiMat	blood
10	chr19:44293200-44293400	Enhancers	HMEC	breast
11	chr19:44293200-44293600	Weak transcription	GM12878-XiMat	blood
12	chr19:44293600-44294800	Enhancers	GM12878-XiMat	blood

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