Variant report

Variant	rs4781205
Chromosome Location	chr16:12438224-12438225
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11075062	0.92[ASW][hapmap];0.89[CHB][hapmap];0.82[CHD][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.93[TSI][hapmap];0.83[YRI][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11641317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11641878	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11648255	0.82[AMR][1000 genomes]
rs11648926	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12595990	0.83[YRI][hapmap]
rs1476117	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs158467	0.92[EUR][1000 genomes]
rs16959318	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs16959342	0.80[CEU][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2013951	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs209834	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs209835	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs209836	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs209839	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs209845	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs209850	0.81[AMR][1000 genomes]
rs209853	0.81[AMR][1000 genomes]
rs209854	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2856766	0.82[EUR][1000 genomes]
rs2856770	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs31679	0.83[EUR][1000 genomes]
rs4781207	0.83[EUR][1000 genomes]
rs4781209	0.82[GIH][hapmap]
rs4781211	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4781214	0.89[CHB][hapmap];0.85[CHD][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs512286	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs540972	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs544598	0.81[EUR][1000 genomes]
rs544673	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6498277	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7184369	0.81[CEU][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7185731	0.83[YRI][hapmap]
rs7190509	0.82[GIH][hapmap]
rs7200289	0.84[CHB][hapmap];0.88[MEX][hapmap]
rs7201621	0.80[AMR][1000 genomes]
rs7202201	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7203117	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8051010	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs868773	0.88[GIH][hapmap]
rs9284322	0.86[GIH][hapmap]
rs9635495	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
8	nsv905349	chr16:12408750-12445863	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv571464	chr16:12423557-12449778	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4781205	C16orf63	cis	parietal	SCAN

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12371400-12456800	Weak transcription	Aorta	Aorta
2	chr16:12405600-12442400	Weak transcription	Spleen	Spleen
3	chr16:12410000-12456600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr16:12410200-12464800	Weak transcription	Gastric	stomach
5	chr16:12416800-12438600	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr16:12418400-12438400	Weak transcription	Brain Anterior Caudate	brain
7	chr16:12425200-12442200	Weak transcription	Psoas Muscle	Psoas
8	chr16:12425400-12442000	Weak transcription	GM12878-XiMat	blood
9	chr16:12426800-12447200	Weak transcription	Lung	lung
10	chr16:12428400-12442400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr16:12428400-12461200	Weak transcription	Thymus	Thymus
12	chr16:12432600-12438600	Weak transcription	Adipose Nuclei	Adipose
13	chr16:12433800-12438800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr16:12434400-12439200	Weak transcription	Brain Hippocampus Middle	brain
15	chr16:12434400-12450600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr16:12434600-12460200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr16:12435000-12441800	Strong transcription	Primary B cells from peripheral blood	blood
18	chr16:12435400-12439200	Strong transcription	Primary T cells from cord blood	blood
19	chr16:12435600-12442200	Weak transcription	Ovary	ovary
20	chr16:12435800-12442400	Weak transcription	Esophagus	oesophagus
21	chr16:12435800-12454800	Weak transcription	Pancreas	Pancrea
22	chr16:12435800-12484000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr16:12436000-12438800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr16:12436000-12450000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr16:12436000-12452400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr16:12436200-12450000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr16:12436200-12456800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr16:12436600-12438600	Weak transcription	Right Ventricle	heart
29	chr16:12436600-12442200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr16:12436800-12447000	Weak transcription	Stomach Smooth Muscle	stomach
31	chr16:12437200-12439200	Strong transcription	Primary B cells from cord blood	blood
32	chr16:12437400-12442000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr16:12437400-12442200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr16:12437400-12442200	Weak transcription	Fetal Muscle Trunk	muscle
35	chr16:12437400-12442400	Weak transcription	Fetal Muscle Leg	muscle
36	chr16:12437400-12456600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr16:12437600-12442400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr16:12437600-12456200	Weak transcription	Right Atrium	heart
39	chr16:12438000-12439800	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr16:12438200-12438400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr16:12438200-12440000	Enhancers	Brain Substantia Nigra	brain
42	chr16:12438200-12440200	Enhancers	Brain Cingulate Gyrus	brain

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