Variant report

Variant	rs7246507
Chromosome Location	chr19:57081198-57081199
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs11667052	1.00[CHB][hapmap];0.80[AMR][1000 genomes]
rs11671776	0.80[AMR][1000 genomes]
rs11672822	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12151151	1.00[CHB][hapmap];0.80[AMR][1000 genomes]
rs12975138	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12978999	1.00[CHB][hapmap]
rs12979383	0.96[EUR][1000 genomes]
rs12980452	1.00[CHB][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12981652	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12981892	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12981980	1.00[CHB][hapmap];0.89[AMR][1000 genomes]
rs12982632	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12986047	0.80[AMR][1000 genomes]
rs15507	0.80[AMR][1000 genomes]
rs16987295	1.00[CHB][hapmap]
rs16987310	1.00[CHB][hapmap];0.80[AMR][1000 genomes]
rs1939	1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2215151	1.00[CHB][hapmap];0.80[AMR][1000 genomes]
rs2215929	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2286422	0.80[AMR][1000 genomes]
rs28428635	0.81[EUR][1000 genomes]
rs2869891	0.80[AMR][1000 genomes]
rs3088221	0.80[AMR][1000 genomes]
rs34225229	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34269477	0.80[AMR][1000 genomes]
rs34760888	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35664312	0.80[AMR][1000 genomes]
rs36020383	0.80[AMR][1000 genomes]
rs36062917	0.80[AMR][1000 genomes]
rs36075900	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3813141	1.00[CHB][hapmap];0.80[AMR][1000 genomes]
rs3813142	0.80[AMR][1000 genomes]
rs3813143	1.00[CHB][hapmap];0.80[AMR][1000 genomes]
rs4267437	0.80[AMR][1000 genomes]
rs4570977	1.00[CHB][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4801339	0.95[EUR][1000 genomes]
rs56069810	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61144294	0.80[AMR][1000 genomes]
rs62123030	0.80[AMR][1000 genomes]
rs62124070	0.80[AMR][1000 genomes]
rs62124114	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7250075	1.00[CHB][hapmap];0.80[AMR][1000 genomes]
rs7258886	0.95[EUR][1000 genomes]
rs7259577	0.94[EUR][1000 genomes]
rs741253	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8110306	1.00[CHB][hapmap];0.80[AMR][1000 genomes]
rs8110403	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs917407	1.00[CHB][hapmap];0.80[AMR][1000 genomes]
rs960997	0.80[AMR][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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7246507	ZFP28	cis	Whole Blood	GTEx
rs7246507	ZFP28	Cis_1M	lymphoblastoid	RTeQTL
rs7246507	AC007228.11	cis	Esophagus Muscularis	GTEx

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:57077600-57082600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr19:57079200-57082600	ZNF genes & repeats	HSMM	muscle
3	chr19:57079200-57082800	ZNF genes & repeats	A549	lung
4	chr19:57079200-57082800	ZNF genes & repeats	HMEC	breast
5	chr19:57079200-57090000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr19:57079200-57090200	ZNF genes & repeats	Dnd41	blood
7	chr19:57079200-57093400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr19:57079400-57082800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
9	chr19:57079400-57083600	ZNF genes & repeats	Fetal Intestine Small	intestine
10	chr19:57079400-57083600	ZNF genes & repeats	NHEK	skin
11	chr19:57079400-57084000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr19:57079400-57086800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
13	chr19:57079400-57092800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr19:57079600-57082600	ZNF genes & repeats	Colonic Mucosa	Colon
15	chr19:57079600-57084600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr19:57079600-57086600	ZNF genes & repeats	NH-A	brain
17	chr19:57079600-57088800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
18	chr19:57079600-57089400	ZNF genes & repeats	Primary B cells from cord blood	blood
19	chr19:57079600-57090200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr19:57079600-57090200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
21	chr19:57079600-57090400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
22	chr19:57079600-57094200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr19:57079600-57094400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
24	chr19:57079600-57095600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
25	chr19:57079800-57081400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr19:57079800-57081600	Weak transcription	Right Atrium	heart
27	chr19:57079800-57081800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr19:57079800-57082600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
29	chr19:57079800-57082600	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
30	chr19:57079800-57082800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr19:57079800-57084000	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
32	chr19:57079800-57089200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr19:57079800-57089400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr19:57079800-57090000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
35	chr19:57079800-57090800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr19:57079800-57091000	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
37	chr19:57079800-57091800	ZNF genes & repeats	Fetal Lung	lung
38	chr19:57079800-57091800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
39	chr19:57079800-57092000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
40	chr19:57079800-57092400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
41	chr19:57079800-57093600	ZNF genes & repeats	Primary T cells from cord blood	blood
42	chr19:57079800-57094400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr19:57079800-57094600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr19:57079800-57095400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
45	chr19:57079800-57096000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr19:57079800-57096200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr19:57079800-57096200	ZNF genes & repeats	Adipose Nuclei	Adipose
48	chr19:57079800-57100000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
49	chr19:57079800-57101800	ZNF genes & repeats	Liver	Liver
50	chr19:57080000-57081400	Weak transcription	Brain Germinal Matrix	brain

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