Variant report

Variant	nsv978824
Chromosome Location	chr19:43844022-43851933
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	chr19:43835562..43838441-chr19:43843809..43845441,2	MCF-7	breast:
2	chr19:43837425..43840449-chr19:43845958..43849291,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231412	chromatin interactions

Extended variants
information (count: 424 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:424 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139652402	chr19:43844030-43844031	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs112134608	chr19:43844067-43844068	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs141340034	chr19:43844108-43844109	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs551986916	chr19:43844119-43844120	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs570589053	chr19:43844120-43844121	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs12978968	chr19:43844177-43844178	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs375463891	chr19:43844178-43844179	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs553042648	chr19:43844183-43844184	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs530045363	chr19:43844195-43844196	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs572705938	chr19:43844209-43844210	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs368270022	chr19:43844246-43844247	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs62113723	chr19:43844254-43844255	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs563646920	chr19:43844273-43844274	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs143044425	chr19:43844274-43844275	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs72480787	chr19:43844281-43844282	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs374691793	chr19:43844285-43844286	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs557527132	chr19:43844293-43844294	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs577757903	chr19:43844295-43844296	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs117949808	chr19:43844296-43844297	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs192517656	chr19:43844308-43844309	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs539973761	chr19:43844310-43844311	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs560542628	chr19:43844341-43844342	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs529242747	chr19:43844343-43844344	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs543320208	chr19:43844348-43844349	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs12459610	chr19:43844349-43844350	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs563073095	chr19:43844352-43844353	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs115853304	chr19:43844356-43844357	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs561486542	chr19:43844382-43844383	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs184089639	chr19:43844393-43844394	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs571857501	chr19:43844467-43844468	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs141254438	chr19:43844481-43844482	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs72453731	chr19:43844492-43844493	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs372384729	chr19:43844495-43844496	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs113977974	chr19:43844524-43844525	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs533067196	chr19:43844526-43844527	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs113899308	chr19:43844528-43844529	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs12610445	chr19:43844540-43844541	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs12608845	chr19:43844544-43844545	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs546668971	chr19:43844553-43844554	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs61520910	chr19:43844555-43844556	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs12608846	chr19:43844556-43844557	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs62113724	chr19:43844560-43844561	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs73039846	chr19:43844573-43844574	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs73039848	chr19:43844574-43844575	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs371722212	chr19:43844597-43844598	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs142160838	chr19:43844622-43844623	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs537739251	chr19:43844679-43844680	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs377423106	chr19:43844709-43844710	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs117919456	chr19:43844777-43844778	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs540349949	chr19:43844789-43844790	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Breast cancer	21509527	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21240255	CNVD
Lung squamous cell carcinoma	22363434	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43842200-43847600	Weak transcription	Esophagus	oesophagus
2	chr19:43843400-43845400	Enhancers	Primary neutrophils fromperipheralblood	blood
3	chr19:43843600-43844400	Enhancers	Fetal Stomach	stomach
4	chr19:43843800-43848200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:43844000-43844200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr19:43845000-43845200	Enhancers	Primary B cells from cord blood	blood
7	chr19:43845200-43846000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
8	chr19:43845200-43846600	Weak transcription	Primary B cells from cord blood	blood
9	chr19:43845400-43846800	Enhancers	Hela-S3	cervix
10	chr19:43845400-43847000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr19:43845600-43846400	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr19:43846000-43849200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr19:43846200-43847000	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr19:43846400-43846600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr19:43846400-43846800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr19:43846600-43847200	Enhancers	Primary B cells from cord blood	blood
17	chr19:43846600-43848200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr19:43846800-43847000	Enhancers	HMEC	breast
19	chr19:43846800-43848200	Weak transcription	Hela-S3	cervix
20	chr19:43846800-43849000	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr19:43847000-43847600	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr19:43847200-43849800	Weak transcription	Primary B cells from cord blood	blood
23	chr19:43847600-43848600	Enhancers	Esophagus	oesophagus
24	chr19:43847600-43849000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr19:43848200-43848600	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr19:43848200-43848600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr19:43848200-43848600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr19:43848200-43849000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr19:43848400-43848600	Enhancers	Hela-S3	cervix
30	chr19:43848400-43848800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr19:43848600-43850200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr19:43848600-43851400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr19:43848600-43856800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr19:43849000-43849800	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr19:43849000-43849800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr19:43849200-43849800	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr19:43849800-43850200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr19:43849800-43850800	Enhancers	Primary B cells from peripheral blood	blood
39	chr19:43849800-43851000	Enhancers	Primary monocytes fromperipheralblood	blood
40	chr19:43849800-43851000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr19:43849800-43852400	Enhancers	Primary B cells from cord blood	blood
42	chr19:43850200-43850600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr19:43850200-43856400	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr19:43850600-43854200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr19:43851000-43851200	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr19:43851000-43851400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr19:43851400-43851800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
48	chr19:43851800-43852000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr19:43851800-43852200	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr19:43851800-43853800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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