Variant report

Variant	rs5017480
Chromosome Location	chr19:53654023-53654024
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:53652920..53654746-chr19:53660355..53662254,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10415467	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10423215	0.94[ASN][1000 genomes]
rs1055346	0.98[ASN][1000 genomes]
rs11878748	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12151148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2195310	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4365395	0.89[ASN][1000 genomes]
rs4575636	0.91[EUR][1000 genomes]
rs4801957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6509727	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530807	chr19:53210488-53695881	Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	esv3326632	chr19:53371248-53697569	Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1065143	chr19:53507142-53853363	Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv544063	chr19:53507142-53853363	ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv1058019	chr19:53507142-53904508	ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv544064	chr19:53507142-53904508	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
7	nsv912342	chr19:53581151-54010759	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv1063630	chr19:53591444-54419183	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	282 gene(s)	inside rSNPs	diseases
9	nsv1055378	chr19:53603268-53951855	Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
10	nsv544065	chr19:53603268-53951855	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	nsv912350	chr19:53636016-53687818	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv960866	chr19:53652539-53662610	Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53640000-53660600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
2	chr19:53640600-53655800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:53642200-53654600	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr19:53642800-53654600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr19:53642800-53655600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
6	chr19:53643000-53654600	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
7	chr19:53643400-53660400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr19:53643800-53654200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr19:53644600-53654400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
10	chr19:53645400-53654600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
11	chr19:53645400-53655800	Strong transcription	Muscle Satellite Cultured Cells	--
12	chr19:53645800-53660800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr19:53647200-53654200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
14	chr19:53647200-53654400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
15	chr19:53647200-53654600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
16	chr19:53647200-53654600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
17	chr19:53647200-53654600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
18	chr19:53647200-53654600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr19:53647200-53655200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
20	chr19:53647400-53655200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
21	chr19:53647400-53656400	ZNF genes & repeats	Fetal Intestine Large	intestine
22	chr19:53647600-53658000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
23	chr19:53647800-53654600	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
24	chr19:53647800-53655600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr19:53647800-53659200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr19:53649000-53660800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr19:53650000-53654600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr19:53650200-53654600	ZNF genes & repeats	Primary B cells from cord blood	blood
29	chr19:53651400-53656400	Weak transcription	K562	blood
30	chr19:53651400-53657400	Strong transcription	Brain Angular Gyrus	brain
31	chr19:53651600-53654200	ZNF genes & repeats	Lung	lung
32	chr19:53651800-53654200	Strong transcription	Placenta Amnion	Placenta Amnion
33	chr19:53651800-53655800	ZNF genes & repeats	Fetal Intestine Small	intestine
34	chr19:53651800-53660800	Weak transcription	Fetal Heart	heart
35	chr19:53652000-53654600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr19:53652000-53657400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr19:53652000-53658000	Strong transcription	Dnd41	blood
38	chr19:53652000-53660400	Weak transcription	Brain Substantia Nigra	brain
39	chr19:53652200-53661000	Weak transcription	HSMMtube	muscle
40	chr19:53652400-53654600	Strong transcription	Fetal Muscle Trunk	muscle
41	chr19:53652600-53654200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr19:53652600-53654200	Strong transcription	Fetal Brain Female	brain
43	chr19:53652600-53654600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr19:53652600-53659200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr19:53652600-53660600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr19:53652800-53656600	Weak transcription	Brain Hippocampus Middle	brain
47	chr19:53653000-53655600	Strong transcription	Fetal Kidney	kidney
48	chr19:53653000-53657200	Strong transcription	Osteobl	bone
49	chr19:53653000-53660400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr19:53653000-53660600	Weak transcription	Colon Smooth Muscle	Colon

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