Variant report

Variant	rs36483
Chromosome Location	chr16:46827524-46827525
allele	C/T
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	CTCF	chr16:46827400-46827550	HepG2	liver:	n/a	n/a
2	CTCF	chr16:46827420-46827570	GM12872	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:46826593..46829284-chr16:46831194..46833933,2	K562	blood:

Variant related genes	Relation type
MYLK3	TF binding region

Extended variants
information (count: 74 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10468399	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1651654	1.00[ASN][1000 genomes]
rs166161	1.00[ASN][1000 genomes]
rs16948661	1.00[ASN][1000 genomes]
rs17189741	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17792604	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs183672	1.00[ASN][1000 genomes]
rs2341041	1.00[ASN][1000 genomes]
rs2341043	0.80[EUR][1000 genomes]
rs252721	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs252722	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28174	1.00[ASN][1000 genomes]
rs28184	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28485103	1.00[ASN][1000 genomes]
rs35444809	1.00[ASN][1000 genomes]
rs36310	1.00[ASN][1000 genomes]
rs36312	1.00[ASN][1000 genomes]
rs36462	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36464	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36471	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36476	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36481	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40163	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40355	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41187	1.00[ASN][1000 genomes]
rs4141491	1.00[ASN][1000 genomes]
rs415018	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs420865	1.00[ASN][1000 genomes]
rs42461	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4401068	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4966606	1.00[ASN][1000 genomes]
rs4967393	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59064826	1.00[ASN][1000 genomes]
rs60500837	1.00[ASN][1000 genomes]
rs66508669	1.00[ASN][1000 genomes]
rs66804065	1.00[ASN][1000 genomes]
rs67205347	1.00[ASN][1000 genomes]
rs67506574	1.00[ASN][1000 genomes]
rs67611436	1.00[ASN][1000 genomes]
rs67789219	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68074363	1.00[ASN][1000 genomes]
rs698418	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs700582	1.00[ASN][1000 genomes]
rs712816	1.00[ASN][1000 genomes]
rs7186662	1.00[ASN][1000 genomes]
rs7187475	1.00[ASN][1000 genomes]
rs7190713	1.00[ASN][1000 genomes]
rs7197033	1.00[ASN][1000 genomes]
rs7198951	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7205668	1.00[ASN][1000 genomes]
rs72816835	1.00[ASN][1000 genomes]
rs72816877	1.00[ASN][1000 genomes]
rs794279	1.00[ASN][1000 genomes]
rs8044684	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8045353	1.00[ASN][1000 genomes]
rs8046748	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8051017	1.00[ASN][1000 genomes]
rs808434	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs808780	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs808783	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv1059049	chr16:46721805-46859239	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
10	nsv1061651	chr16:46721805-46915511	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
11	nsv1060982	chr16:46721805-46938858	Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
12	nsv1067283	chr16:46801709-46885218	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	esv1797464	chr16:46820464-46857454	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
14	esv3355912	chr16:46826751-46831749	ZNF genes & repeats Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs36483	LOC388272	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:46824200-46839600	Weak transcription	HSMM	muscle
2	chr16:46824400-46828600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr16:46824400-46831200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr16:46824400-46837400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr16:46824400-46839800	Weak transcription	Gastric	stomach
6	chr16:46824400-46846800	Weak transcription	Left Ventricle	heart
7	chr16:46824400-46847200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr16:46824600-46828600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr16:46824600-46828800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr16:46824600-46829400	Weak transcription	Fetal Kidney	kidney
11	chr16:46824600-46830200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr16:46824600-46830600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr16:46824600-46836600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr16:46824600-46839400	Weak transcription	NHLF	lung
15	chr16:46824600-46843200	Weak transcription	HUVEC	blood vessel
16	chr16:46824600-46843600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr16:46824600-46843800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr16:46824600-46856000	Weak transcription	Ovary	ovary
19	chr16:46824600-46863800	Weak transcription	Aorta	Aorta
20	chr16:46824800-46836600	Weak transcription	Esophagus	oesophagus
21	chr16:46824800-46843400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr16:46824800-46843600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr16:46824800-46843600	Weak transcription	NH-A	brain
24	chr16:46824800-46843600	Weak transcription	Osteobl	bone
25	chr16:46825000-46855200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr16:46825200-46840800	Weak transcription	Hela-S3	cervix
27	chr16:46825400-46843400	Weak transcription	K562	blood
28	chr16:46827200-46827800	Weak transcription	Liver	Liver
29	chr16:46827200-46828600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr16:46827400-46827800	Weak transcription	Stomach Mucosa	stomach
31	chr16:46827400-46832400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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