Variant report

Variant	rs4781223
Chromosome Location	chr16:12491754-12491755
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1019577	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11075066	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12444279	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1974905	0.83[ASN][1000 genomes]
rs4781220	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4781221	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4781224	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62027025	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62027026	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6498284	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6498289	0.80[ASN][1000 genomes]
rs7189197	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7193678	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7200172	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8044113	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8049751	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8053319	0.93[ASN][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	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	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
3	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
4	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
5	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
6	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
7	nsv1736	chr16:12477807-12522707	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv1046002	chr16:12482003-12510643	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv1051242	chr16:12482972-12897243	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv542749	chr16:12482972-12897243	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4781223	TMEM186	cis	cerebellum	SCAN
rs4781223	EMP2	cis	parietal	SCAN

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12457000-12492400	Weak transcription	Lung	lung
2	chr16:12457400-12497400	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr16:12457600-12497400	Weak transcription	Spleen	Spleen
4	chr16:12470200-12497400	Weak transcription	Left Ventricle	heart
5	chr16:12471200-12494200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr16:12471800-12493400	Weak transcription	Aorta	Aorta
7	chr16:12471800-12495800	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr16:12471800-12499000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr16:12473800-12493800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr16:12476000-12531600	Weak transcription	Right Ventricle	heart
11	chr16:12478600-12497400	Weak transcription	Pancreas	Pancrea
12	chr16:12480200-12491800	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr16:12480200-12493600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr16:12480800-12497400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr16:12481800-12496800	Weak transcription	Esophagus	oesophagus
16	chr16:12482400-12510400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr16:12484600-12493200	Weak transcription	Fetal Stomach	stomach
18	chr16:12484600-12497200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr16:12485000-12493600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr16:12485000-12493600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr16:12485000-12497000	Weak transcription	NHLF	lung
22	chr16:12485000-12497400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr16:12485000-12501000	Weak transcription	NHEK	skin
24	chr16:12485200-12492400	Weak transcription	Osteobl	bone
25	chr16:12485400-12494400	Strong transcription	Primary B cells from cord blood	blood
26	chr16:12485800-12492200	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr16:12486400-12497400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr16:12486600-12493800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr16:12487000-12496400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr16:12487000-12497400	Weak transcription	Brain Anterior Caudate	brain
31	chr16:12487000-12497400	Weak transcription	Thymus	Thymus
32	chr16:12487000-12497800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr16:12487200-12493000	Weak transcription	Brain Hippocampus Middle	brain
34	chr16:12487200-12497400	Weak transcription	Colon Smooth Muscle	Colon
35	chr16:12487400-12492400	Weak transcription	Fetal Muscle Leg	muscle
36	chr16:12487400-12497200	Weak transcription	Gastric	stomach
37	chr16:12487400-12497400	Weak transcription	Brain Substantia Nigra	brain
38	chr16:12487400-12506400	Strong transcription	Primary B cells from peripheral blood	blood
39	chr16:12487600-12493200	Weak transcription	Adipose Nuclei	Adipose
40	chr16:12487600-12497400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr16:12487600-12497400	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr16:12487600-12497400	Weak transcription	HSMMtube	muscle
43	chr16:12487800-12497200	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr16:12487800-12499600	Weak transcription	Psoas Muscle	Psoas
45	chr16:12488000-12496800	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr16:12488000-12497400	Weak transcription	Duodenum Mucosa	Duodenum
47	chr16:12488200-12499200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr16:12489600-12491800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr16:12489600-12501000	Weak transcription	NHDF-Ad	bronchial
50	chr16:12489800-12492000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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