Variant report

Variant	rs5018328
Chromosome Location	chr16:12655820-12655821
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 113 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs1075842	0.82[AFR][1000 genomes]
rs11639610	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11639949	0.85[EUR][1000 genomes]
rs11643626	0.84[AFR][1000 genomes]
rs11643633	0.84[AFR][1000 genomes]
rs11644439	0.81[EUR][1000 genomes]
rs11645980	0.84[EUR][1000 genomes]
rs11646038	0.84[EUR][1000 genomes]
rs11646289	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12162086	0.84[EUR][1000 genomes]
rs12708750	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12708751	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12918473	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12918587	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12918863	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12918996	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12924625	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12925384	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12925835	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12925894	0.86[EUR][1000 genomes]
rs12925945	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12926407	0.84[EUR][1000 genomes]
rs12926426	0.84[EUR][1000 genomes]
rs12927506	0.84[EUR][1000 genomes]
rs12928426	0.82[AFR][1000 genomes]
rs12928478	0.84[EUR][1000 genomes]
rs12928486	0.84[EUR][1000 genomes]
rs12928620	0.84[EUR][1000 genomes]
rs12928849	0.84[EUR][1000 genomes]
rs12929849	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12929953	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12930375	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12930904	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12931055	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12931604	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12931667	0.84[EUR][1000 genomes]
rs12932392	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12932393	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12932763	0.84[EUR][1000 genomes]
rs12933260	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12935414	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12935425	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12935552	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12935722	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1465560	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1465561	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1465563	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1465564	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1560116	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2115104	0.84[EUR][1000 genomes]
rs2162794	0.84[EUR][1000 genomes]
rs2162795	0.84[EUR][1000 genomes]
rs2162796	0.85[EUR][1000 genomes]
rs2561041	0.81[EUR][1000 genomes]
rs2856794	0.80[EUR][1000 genomes]
rs2865571	0.84[EUR][1000 genomes]
rs2865573	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2903038	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2903041	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3135016	0.81[EUR][1000 genomes]
rs3135018	0.81[EUR][1000 genomes]
rs34352915	0.84[AFR][1000 genomes]
rs34696585	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35272133	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35804561	0.82[AFR][1000 genomes]
rs36121403	0.82[AFR][1000 genomes]
rs3751783	0.85[EUR][1000 genomes]
rs3751785	0.85[EUR][1000 genomes]
rs3829529	0.85[EUR][1000 genomes]
rs3829530	0.84[EUR][1000 genomes]
rs3929069	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4287557	0.84[EUR][1000 genomes]
rs5018323	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60215082	0.84[AFR][1000 genomes]
rs66570090	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs66671756	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs66692938	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs67011719	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs67320161	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67573680	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67577857	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67654391	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs67753633	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67863615	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67872044	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67872973	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67897207	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs68054229	0.91[AFR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7184258	0.85[EUR][1000 genomes]
rs7186299	0.84[EUR][1000 genomes]
rs7200321	0.84[EUR][1000 genomes]
rs7201565	0.84[EUR][1000 genomes]
rs7201769	0.86[EUR][1000 genomes]
rs7205432	0.84[EUR][1000 genomes]
rs8056636	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9929137	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9929150	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9938255	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9938512	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9939198	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
3	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
4	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
5	nsv1035581	chr16:12516946-12863700	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1051607	chr16:12522130-13347676	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv542750	chr16:12522130-13347676	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	esv1842867	chr16:12632286-12678721	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv2751546	chr16:12635498-12674704	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1050925	chr16:12648058-12670588	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv1044772	chr16:12648266-12668751	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv528018	chr16:12653650-12657321	Weak transcription Enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
13	nsv1049011	chr16:12655176-12672143	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12613000-12670800	Weak transcription	Pancreas	Pancrea
2	chr16:12632800-12663800	Weak transcription	Aorta	Aorta
3	chr16:12639400-12659000	Weak transcription	Lung	lung
4	chr16:12641200-12667000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr16:12642000-12662200	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr16:12643000-12659200	Weak transcription	Placenta	Placenta
7	chr16:12645200-12661600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr16:12646000-12659000	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr16:12646000-12661000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr16:12646200-12659800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr16:12646200-12660000	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr16:12646400-12659400	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr16:12646400-12660800	Weak transcription	Thymus	Thymus
14	chr16:12647400-12658800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr16:12647400-12662200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr16:12647400-12665200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr16:12647600-12661600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr16:12648000-12662200	Weak transcription	Fetal Stomach	stomach
19	chr16:12648400-12668800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr16:12648800-12659200	Weak transcription	Esophagus	oesophagus
21	chr16:12649000-12658600	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr16:12649800-12662200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr16:12652200-12660200	Strong transcription	Primary B cells from cord blood	blood
24	chr16:12652200-12669200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr16:12652400-12658200	Strong transcription	Primary B cells from peripheral blood	blood
26	chr16:12652400-12666400	Weak transcription	Brain Anterior Caudate	brain
27	chr16:12652600-12665800	Weak transcription	Brain Angular Gyrus	brain
28	chr16:12652600-12672200	Weak transcription	Right Ventricle	heart
29	chr16:12652800-12663400	Weak transcription	Brain Substantia Nigra	brain
30	chr16:12653200-12659200	Weak transcription	Adipose Nuclei	Adipose
31	chr16:12653200-12662200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr16:12653200-12667600	Weak transcription	Brain Hippocampus Middle	brain
33	chr16:12653200-12669200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr16:12653400-12659800	Weak transcription	Ovary	ovary
35	chr16:12653600-12659000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr16:12653600-12662400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr16:12653600-12662600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr16:12653600-12663200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr16:12653800-12662600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr16:12653800-12665800	Weak transcription	NHDF-Ad	bronchial
41	chr16:12654800-12659600	Strong transcription	Primary T cells from cord blood	blood
42	chr16:12655000-12656000	Strong transcription	Spleen	Spleen
43	chr16:12655400-12656000	Strong transcription	Gastric	stomach
44	chr16:12655600-12659000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr16:12655800-12656600	ZNF genes & repeats	GM12878-XiMat	blood

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