Variant report

Variant	rs4781214
Chromosome Location	chr16:12461868-12461869
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	MAX	chr16:12461860-12461940	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000260723	TF binding region

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11075062	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11641317	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11641878	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11645864	0.82[EUR][1000 genomes]
rs11648255	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11648926	0.84[AMR][1000 genomes]
rs12595990	0.83[YRI][hapmap]
rs1476117	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs158467	0.86[EUR][1000 genomes]
rs16959318	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16959342	1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs209834	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs209835	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs209836	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs209839	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs209845	0.85[EUR][1000 genomes]
rs209854	0.87[EUR][1000 genomes]
rs2856766	0.84[EUR][1000 genomes]
rs2856770	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34777382	0.91[ASN][1000 genomes]
rs4780423	0.83[EUR][1000 genomes]
rs4781205	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4781208	1.00[JPT][hapmap]
rs4781209	0.85[GIH][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes]
rs4781211	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs512286	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs540972	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs544673	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62039994	0.83[EUR][1000 genomes]
rs6498277	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6498278	0.82[EUR][1000 genomes]
rs6498279	0.82[EUR][1000 genomes]
rs7184369	0.81[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7184477	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7185731	0.83[YRI][hapmap]
rs7190509	0.85[GIH][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes]
rs7200289	0.88[MEX][hapmap]
rs7201621	0.85[JPT][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7202201	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7203117	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8051010	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs830727	0.82[GIH][hapmap]
rs868773	0.91[GIH][hapmap]
rs9284322	0.89[GIH][hapmap];0.81[EUR][1000 genomes]
rs9302469	0.81[EUR][1000 genomes]
rs9635495	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043096	chr16:12013915-12840769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv833141	chr16:12314613-12487992	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv457411	chr16:12363304-12520199	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv571462	chr16:12363304-12520199	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv571463	chr16:12367791-12783535	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv1045385	chr16:12376389-12517006	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv542748	chr16:12376389-12517006	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4781214	C16orf63	cis	parietal	SCAN

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12410200-12464800	Weak transcription	Gastric	stomach
2	chr16:12435800-12484000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr16:12443600-12470800	Weak transcription	HepG2	liver
4	chr16:12444800-12491400	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr16:12447600-12470000	Weak transcription	Esophagus	oesophagus
6	chr16:12448600-12471200	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr16:12449800-12463000	Strong transcription	Primary B cells from peripheral blood	blood
8	chr16:12450800-12470000	Weak transcription	Fetal Thymus	thymus
9	chr16:12452800-12464200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr16:12453000-12470600	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr16:12453200-12479000	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr16:12453400-12467400	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr16:12453400-12469400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr16:12454400-12469200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr16:12454600-12470800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr16:12455600-12479400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr16:12456200-12470600	Weak transcription	NHEK	skin
18	chr16:12456800-12478600	Weak transcription	Ovary	ovary
19	chr16:12457000-12492400	Weak transcription	Lung	lung
20	chr16:12457200-12465000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr16:12457400-12462000	Weak transcription	Fetal Heart	heart
22	chr16:12457400-12462200	Weak transcription	Left Ventricle	heart
23	chr16:12457400-12469000	Weak transcription	Brain Angular Gyrus	brain
24	chr16:12457400-12469000	Weak transcription	Brain Anterior Caudate	brain
25	chr16:12457400-12469200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr16:12457400-12497400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr16:12457600-12464400	Weak transcription	Right Atrium	heart
28	chr16:12457600-12464600	Weak transcription	Adipose Nuclei	Adipose
29	chr16:12457600-12491600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr16:12457600-12497400	Weak transcription	Spleen	Spleen
31	chr16:12458000-12462000	Strong transcription	Primary T cells from cord blood	blood
32	chr16:12461000-12463000	Strong transcription	Primary B cells from cord blood	blood
33	chr16:12461000-12464600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr16:12461000-12464600	Weak transcription	Brain Hippocampus Middle	brain
35	chr16:12461000-12464600	Weak transcription	Brain Substantia Nigra	brain
36	chr16:12461000-12471200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr16:12461000-12471600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr16:12461000-12473400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr16:12461200-12470000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr16:12461200-12490200	Weak transcription	GM12878-XiMat	blood

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