Variant report

Variant	rs59064826
Chromosome Location	chr16:46686281-46686282
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10468399	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1651654	1.00[ASN][1000 genomes]
rs166161	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16948661	1.00[ASN][1000 genomes]
rs17189741	1.00[ASN][1000 genomes]
rs17792604	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs183672	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2341041	1.00[ASN][1000 genomes]
rs252721	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs252722	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28174	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28184	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28485103	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35444809	1.00[ASN][1000 genomes]
rs36310	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36312	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36462	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36464	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36471	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36472	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs36476	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36481	1.00[ASN][1000 genomes]
rs36483	1.00[ASN][1000 genomes]
rs40163	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40355	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41187	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4141491	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs415018	1.00[ASN][1000 genomes]
rs420865	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4401068	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4887592	1.00[ASN][1000 genomes]
rs4966606	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4966616	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4967393	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60500837	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66508669	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66804065	1.00[ASN][1000 genomes]
rs67205347	1.00[ASN][1000 genomes]
rs67506574	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67611436	1.00[ASN][1000 genomes]
rs67789219	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68074363	1.00[ASN][1000 genomes]
rs698416	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs698418	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs700582	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs712816	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7186662	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7187475	1.00[ASN][1000 genomes]
rs7190713	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7197033	1.00[ASN][1000 genomes]
rs7198951	1.00[ASN][1000 genomes]
rs7205668	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72814883	1.00[ASN][1000 genomes]
rs72816835	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72816877	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs794279	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8044684	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8045353	1.00[ASN][1000 genomes]
rs8046748	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8051017	1.00[ASN][1000 genomes]
rs808434	1.00[ASN][1000 genomes]
rs808780	1.00[ASN][1000 genomes]
rs808783	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1799780	chr16:46386457-46875496	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv1066221	chr16:46463770-46699143	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1060734	chr16:46463770-46768102	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv1064289	chr16:46463770-46801977	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1059456	chr16:46463770-47307580	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
6	nsv1066115	chr16:46463770-47318415	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
7	esv1797185	chr16:46489836-46731413	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv1066048	chr16:46500740-46998694	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
9	nsv542908	chr16:46500740-46998694	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
10	nsv1059147	chr16:46500740-47010960	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
11	nsv542909	chr16:46500740-47010960	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
12	nsv916976	chr16:46505597-46801868	Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
13	nsv526656	chr16:46539392-46846663	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
14	nsv428327	chr16:46556968-46718490	Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
15	nsv984334	chr16:46674416-46704148	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs59064826	LOC388272	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46655600-46694200	Weak transcription	Right Ventricle	heart
2	chr16:46672600-46691200	Weak transcription	Gastric	stomach
3	chr16:46674200-46692800	Weak transcription	Ovary	ovary
4	chr16:46679800-46689800	Weak transcription	Primary B cells from cord blood	blood
5	chr16:46681200-46691000	Weak transcription	Primary T cells from cord blood	blood
6	chr16:46681200-46692600	Weak transcription	Primary B cells from peripheral blood	blood
7	chr16:46681400-46692800	Weak transcription	Brain Angular Gyrus	brain
8	chr16:46681400-46693000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr16:46681800-46692000	Weak transcription	Brain Hippocampus Middle	brain
10	chr16:46682000-46686600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr16:46682000-46691000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr16:46682200-46691000	Weak transcription	Left Ventricle	heart
13	chr16:46682200-46692800	Weak transcription	Spleen	Spleen
14	chr16:46683200-46690000	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr16:46683200-46691200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr16:46683200-46692400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr16:46683200-46692800	Weak transcription	Aorta	Aorta
18	chr16:46683200-46693000	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr16:46683200-46696000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr16:46683200-46696600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr16:46683400-46692000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr16:46683800-46689800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr16:46683800-46691200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr16:46683800-46691200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr16:46683800-46691400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr16:46683800-46692800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr16:46683800-46692800	Weak transcription	Colonic Mucosa	Colon
28	chr16:46684000-46690600	Weak transcription	Fetal Stomach	stomach
29	chr16:46684000-46691200	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr16:46684000-46691600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr16:46684000-46692200	Weak transcription	HMEC	breast
32	chr16:46684000-46692800	Weak transcription	Fetal Lung	lung
33	chr16:46684000-46695600	Weak transcription	K562	blood
34	chr16:46684000-46695800	Weak transcription	Colon Smooth Muscle	Colon
35	chr16:46684200-46691000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr16:46684200-46691200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr16:46684200-46691200	Weak transcription	Adipose Nuclei	Adipose
38	chr16:46684200-46691200	Weak transcription	HSMM	muscle
39	chr16:46684200-46693800	Weak transcription	Stomach Smooth Muscle	stomach
40	chr16:46684200-46695800	Weak transcription	Rectal Smooth Muscle	rectum
41	chr16:46684200-46701800	Weak transcription	Psoas Muscle	Psoas
42	chr16:46684400-46690000	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr16:46684400-46690000	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr16:46684400-46692200	Weak transcription	Placenta	Placenta
45	chr16:46684400-46695800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr16:46684600-46689000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr16:46684600-46689600	Weak transcription	Fetal Muscle Leg	muscle
48	chr16:46684600-46690400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr16:46684600-46691000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr16:46684600-46691000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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