Variant report

Variant	rs10427145
Chromosome Location	chr19:57077643-57077644
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr19:57077594-57079782	SK-N-SH	brain:	n/a	chr19:57078881-57078896

Variant related genes	Relation type
ZNF470	TF binding region

Extended variants
information (count: 59 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10405702	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10406660	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10408033	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10409531	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10410277	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10412249	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10413682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10415256	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10419789	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10421285	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10424437	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10425965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10426619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1052280	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11084454	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12104204	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12104288	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12979383	0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12981572	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2024396	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28428635	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28668141	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2869896	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2904241	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4401145	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4801174	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4801335	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4801337	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4801339	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4801343	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7252022	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7252934	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7253371	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7253545	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7254001	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7258886	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7259161	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7259577	0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7259608	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7259741	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs741252	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs759331	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs764999	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs765000	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8101497	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8106879	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8108667	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9916995	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs995934	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949121	chr19:56754719-57591038	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv1062341	chr19:56794070-57273332	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv544094	chr19:56794070-57273332	Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
4	nsv1056713	chr19:56799151-57265682	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
5	nsv544095	chr19:56799151-57265682	Strong transcription ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
6	nsv1057240	chr19:56919831-57153659	Flanking Active TSS Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv544097	chr19:56919831-57153659	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	nsv1055357	chr19:56933632-57190007	ZNF genes & repeats Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv912518	chr19:56995737-57109821	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
10	nsv1062806	chr19:57050734-57191914	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10427145	AC007228.11	cis	Esophagus Muscularis	GTEx
rs10427145	ZFP28	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:57047400-57077800	ZNF genes & repeats	Liver	Liver
2	chr19:57051600-57078000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
3	chr19:57054800-57077800	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr19:57071800-57078000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
5	chr19:57072000-57078200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr19:57072000-57078200	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr19:57072400-57078200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr19:57073000-57077800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr19:57074200-57077800	Weak transcription	Gastric	stomach
10	chr19:57075200-57078000	ZNF genes & repeats	Fetal Lung	lung
11	chr19:57076000-57078000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr19:57076200-57078200	Weak transcription	Pancreas	Pancrea
13	chr19:57076400-57077800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr19:57076600-57077800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr19:57076600-57078000	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr19:57076600-57078000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr19:57076600-57078000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
18	chr19:57076600-57078200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr19:57076800-57078200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr19:57076800-57078400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr19:57077000-57077800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr19:57077000-57077800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr19:57077000-57077800	ZNF genes & repeats	Dnd41	blood
24	chr19:57077000-57078000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr19:57077000-57078000	Weak transcription	Fetal Stomach	stomach
26	chr19:57077000-57078000	Weak transcription	Ovary	ovary
27	chr19:57077200-57077800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr19:57077200-57077800	Weak transcription	Left Ventricle	heart
29	chr19:57077200-57077800	Weak transcription	Psoas Muscle	Psoas
30	chr19:57077200-57078200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr19:57077400-57077800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
32	chr19:57077400-57077800	Active TSS	Colon Smooth Muscle	Colon
33	chr19:57077400-57077800	ZNF genes & repeats	Stomach Smooth Muscle	stomach
34	chr19:57077400-57078000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
35	chr19:57077400-57078000	Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr19:57077400-57078000	Weak transcription	Fetal Brain Female	brain
37	chr19:57077400-57078600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
38	chr19:57077400-57079000	Active TSS	Primary T cells from cord blood	blood
39	chr19:57077400-57079200	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr19:57077400-57079400	Active TSS	Brain Anterior Caudate	brain
41	chr19:57077400-57079400	Active TSS	Brain Hippocampus Middle	brain
42	chr19:57077400-57080000	ZNF genes & repeats	GM12878-XiMat	blood
43	chr19:57077600-57077800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
44	chr19:57077600-57077800	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr19:57077600-57077800	ZNF genes & repeats	Fetal Muscle Leg	muscle
46	chr19:57077600-57077800	Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr19:57077600-57078000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
48	chr19:57077600-57078000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
49	chr19:57077600-57078000	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr19:57077600-57078000	Flanking Active TSS	Brain Cingulate Gyrus	brain

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