Variant report

Variant	esv1620066
Chromosome Location	chr19:19479862-19480274
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:19475761..19480142-chr19:19495038..19498469,6	MCF-7	breast:
2	chr19:19475914..19477803-chr19:19479943..19482008,3	K562	blood:
3	chr19:19475888..19481380-chr19:19598435..19602231,6	MCF-7	breast:
4	chr19:19478621..19480649-chr19:19481501..19483639,2	K562	blood:

Variant related genes	Relation type
ENSG00000167491	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535678980	chr19:19479898-19479899	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs2315279	chr19:19479936-19479937	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs575268128	chr19:19479953-19479954	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs537827585	chr19:19479960-19479961	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs2315280	chr19:19479970-19479971	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs113716120	chr19:19480003-19480004	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs577992188	chr19:19480017-19480018	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs540580840	chr19:19480054-19480055	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs560466417	chr19:19480058-19480059	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs370416381	chr19:19480081-19480082	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs573740107	chr19:19480093-19480094	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs2315281	chr19:19480099-19480100	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs562190212	chr19:19480109-19480110	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs569765683	chr19:19480195-19480196	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs181101192	chr19:19480210-19480211	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs550550871	chr19:19480233-19480234	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs564184362	chr19:19480234-19480235	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs533157238	chr19:19480266-19480267	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs538815163	chr19:19480274-19480275	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	20179077	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21080181	CNVD
Metanephric adenoma	20802469	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Lung cancer	17297452	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Medulloblastoma	16783165	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Chordoma	18071362	CNVD
Ewing''s sarcoma	21437220	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
Urothelial carcinoma	21177765	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Basal cell lymphoma	21115979	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21364760	CNVD
Mycobacterial infection	18421352	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute monocytic leukemia	16498392	CNVD
Lung cancer	18438408	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Liver carcinoma	19366792	CNVD
Colorectal cancer	19455253	CNVD
Lujan-Fryns syndrom	21521776	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Cancer	17440070	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19465200-19483600	Weak transcription	NH-A	brain
2	chr19:19469400-19482000	Weak transcription	Esophagus	oesophagus
3	chr19:19469800-19488400	Weak transcription	Gastric	stomach
4	chr19:19475800-19488000	Weak transcription	Small Intestine	intestine
5	chr19:19476000-19481800	Weak transcription	NHEK	skin
6	chr19:19476200-19482000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr19:19476200-19482000	Weak transcription	HUVEC	blood vessel
8	chr19:19476200-19483200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr19:19476200-19483600	Weak transcription	Fetal Intestine Large	intestine
10	chr19:19476200-19483600	Weak transcription	NHLF	lung
11	chr19:19476200-19483800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr19:19476200-19488200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr19:19476200-19488400	Weak transcription	Right Atrium	heart
14	chr19:19477800-19481600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr19:19477800-19481800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr19:19477800-19481800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr19:19477800-19481800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr19:19477800-19481800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr19:19477800-19481800	Weak transcription	HSMM	muscle
20	chr19:19477800-19482000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr19:19477800-19482000	Weak transcription	HMEC	breast
22	chr19:19477800-19482800	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr19:19477800-19483000	Weak transcription	Primary B cells from cord blood	blood
24	chr19:19477800-19483000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr19:19477800-19483200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr19:19477800-19483200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr19:19477800-19483200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr19:19477800-19483200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr19:19477800-19483600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr19:19477800-19483600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr19:19477800-19483600	Weak transcription	Brain Hippocampus Middle	brain
32	chr19:19477800-19483600	Weak transcription	NHDF-Ad	bronchial
33	chr19:19477800-19488400	Weak transcription	Fetal Muscle Leg	muscle
34	chr19:19477800-19488600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr19:19477800-19488600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr19:19478000-19481800	Weak transcription	Lung	lung
37	chr19:19478000-19481800	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr19:19478000-19481800	Weak transcription	Stomach Mucosa	stomach
39	chr19:19478000-19481800	Weak transcription	A549	lung
40	chr19:19478000-19482000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr19:19478000-19482600	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr19:19478000-19482800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr19:19478000-19482800	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr19:19478000-19483000	Weak transcription	Primary B cells from peripheral blood	blood
45	chr19:19478000-19483000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr19:19478000-19483000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr19:19478000-19483200	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr19:19478000-19483400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr19:19478000-19483400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr19:19478000-19483400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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