Variant report

Variant	rs59099214
Chromosome Location	chr19:42718595-42718596
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:42710660..42713787-chr19:42715673..42719077,4	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11880124	0.82[EUR][1000 genomes]
rs11882103	0.91[AFR][1000 genomes]
rs11883412	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16975684	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2303652	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3745231	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3745233	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3810151	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7248379	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8108096	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8182491	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	esv1805469	chr19:42367635-42798851	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
5	esv1794508	chr19:42580026-42791462	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
6	nsv1055554	chr19:42619671-42821642	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
7	nsv833833	chr19:42657276-42783122	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
8	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
9	nsv961292	chr19:42710814-42734591	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs59099214	ZNF219	trans	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42700400-42719800	Strong transcription	Fetal Stomach	stomach
2	chr19:42701000-42720200	Weak transcription	Fetal Heart	heart
3	chr19:42701200-42719800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr19:42702000-42719400	Strong transcription	Fetal Intestine Small	intestine
5	chr19:42703000-42720400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr19:42706200-42720000	Weak transcription	Right Atrium	heart
7	chr19:42708000-42719400	Strong transcription	Liver	Liver
8	chr19:42709400-42719800	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr19:42710400-42719600	Genic enhancers	Primary T cells fromperipheralblood	blood
10	chr19:42710600-42720000	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr19:42711000-42718600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr19:42711000-42719600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr19:42711600-42719200	Strong transcription	Placenta	Placenta
14	chr19:42712200-42719800	Weak transcription	Small Intestine	intestine
15	chr19:42712400-42719400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr19:42712600-42719200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr19:42712800-42718600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr19:42713000-42718800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr19:42713000-42719200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr19:42713000-42719400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr19:42713000-42719600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr19:42713000-42719800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr19:42713000-42719800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr19:42713200-42719400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr19:42714000-42719200	Weak transcription	Stomach Mucosa	stomach
26	chr19:42714000-42719800	Weak transcription	Colon Smooth Muscle	Colon
27	chr19:42714200-42719200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr19:42714200-42719600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr19:42714400-42718600	Weak transcription	NHLF	lung
30	chr19:42714400-42719400	Weak transcription	Hela-S3	cervix
31	chr19:42714400-42720000	Weak transcription	Fetal Kidney	kidney
32	chr19:42714400-42720200	Weak transcription	HSMMtube	muscle
33	chr19:42714400-42720600	Weak transcription	Aorta	Aorta
34	chr19:42714600-42719800	Weak transcription	Fetal Brain Male	brain
35	chr19:42714600-42720000	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr19:42714600-42720200	Weak transcription	Fetal Lung	lung
37	chr19:42714600-42720200	Weak transcription	Right Ventricle	heart
38	chr19:42714800-42718600	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr19:42715000-42719200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
40	chr19:42715200-42719400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
41	chr19:42715400-42719200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr19:42715600-42718600	Weak transcription	Pancreas	Pancrea
43	chr19:42715600-42718800	Weak transcription	Colonic Mucosa	Colon
44	chr19:42715600-42720000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr19:42716000-42719600	Strong transcription	Fetal Intestine Large	intestine
46	chr19:42716400-42719400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr19:42716400-42719400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr19:42716400-42719400	Strong transcription	Stomach Smooth Muscle	stomach
49	chr19:42716400-42719800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
50	chr19:42716400-42720000	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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