Variant report

Variant	rs4928063
Chromosome Location	chr3:100266711-100266712
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:100260993..100262785-chr3:100265317..100268277,2	K562	blood:

Extended variants
information (count: 111 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs11706258	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11710281	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11713258	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11715555	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11719592	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11923487	0.84[ASN][1000 genomes]
rs12629511	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12630904	0.82[ASN][1000 genomes]
rs12634314	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12634317	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12635025	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12635026	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12636452	0.95[ASN][1000 genomes]
rs13093980	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13320223	0.82[ASN][1000 genomes]
rs28722928	0.83[ASN][1000 genomes]
rs4077302	0.83[ASN][1000 genomes]
rs4129205	0.84[ASN][1000 genomes]
rs4928048	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4928049	0.83[ASN][1000 genomes]
rs4928064	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4928065	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4928110	0.95[ASN][1000 genomes]
rs4928111	0.95[ASN][1000 genomes]
rs4928112	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55764247	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55789829	0.95[ASN][1000 genomes]
rs56736439	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57075146	0.83[ASN][1000 genomes]
rs57404153	0.84[ASN][1000 genomes]
rs57671998	0.83[ASN][1000 genomes]
rs58689996	0.95[ASN][1000 genomes]
rs58740980	0.82[ASN][1000 genomes]
rs58789183	0.98[ASN][1000 genomes]
rs59281247	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60255102	0.81[ASN][1000 genomes]
rs60375749	0.83[ASN][1000 genomes]
rs60511852	0.95[ASN][1000 genomes]
rs61403861	0.83[ASN][1000 genomes]
rs62274560	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62274561	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62274575	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62278361	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6441316	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6441317	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6441318	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6441321	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6441328	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6441329	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66512877	0.82[ASN][1000 genomes]
rs66627492	0.81[ASN][1000 genomes]
rs66644999	0.82[ASN][1000 genomes]
rs66747627	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66828943	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67014477	0.82[ASN][1000 genomes]
rs67348505	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6763638	0.84[ASN][1000 genomes]
rs6767089	0.82[ASN][1000 genomes]
rs6796541	0.83[ASN][1000 genomes]
rs6799879	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6799882	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6799992	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs68019545	0.82[ASN][1000 genomes]
rs6802787	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6803109	0.83[ASN][1000 genomes]
rs6805186	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6807804	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6808426	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72929220	0.83[ASN][1000 genomes]
rs73141201	0.82[ASN][1000 genomes]
rs7426462	0.84[ASN][1000 genomes]
rs7427360	0.84[ASN][1000 genomes]
rs7429277	0.88[ASN][1000 genomes]
rs7429915	0.83[ASN][1000 genomes]
rs7431846	0.92[ASN][1000 genomes]
rs7432710	0.84[ASN][1000 genomes]
rs7433589	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7433875	0.84[ASN][1000 genomes]
rs7611100	0.89[ASN][1000 genomes]
rs7617909	0.84[ASN][1000 genomes]
rs7618030	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7618159	0.80[ASN][1000 genomes]
rs7622658	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7625717	0.83[ASN][1000 genomes]
rs7631877	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7644235	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7645690	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7645700	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7647492	0.85[ASN][1000 genomes]
rs7647499	0.88[ASN][1000 genomes]
rs7650265	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7653126	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9814643	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9819246	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9820745	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9823159	0.83[ASN][1000 genomes]
rs9825818	0.84[ASN][1000 genomes]
rs9831654	0.82[ASN][1000 genomes]
rs9842488	0.82[ASN][1000 genomes]
rs9843498	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9843647	0.82[ASN][1000 genomes]
rs9843654	0.82[ASN][1000 genomes]
rs9845649	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9855549	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9857812	0.81[ASN][1000 genomes]
rs9865411	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9865776	0.83[ASN][1000 genomes]
rs9870803	0.83[ASN][1000 genomes]
rs9880036	0.83[ASN][1000 genomes]
rs9881835	0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877218	chr3:100176360-100267619	Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4928063	TMEM45A	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100241000-100299800	Weak transcription	Fetal Muscle Leg	muscle
2	chr3:100242400-100268000	Weak transcription	Ovary	ovary
3	chr3:100244800-100267000	Weak transcription	HSMM	muscle
4	chr3:100253800-100289000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:100253800-100289000	Weak transcription	Aorta	Aorta
6	chr3:100254000-100269400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr3:100255000-100274800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr3:100255800-100267600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr3:100256800-100266800	Weak transcription	Fetal Stomach	stomach
10	chr3:100256800-100268200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr3:100257600-100267200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr3:100261000-100267000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr3:100261800-100277000	Weak transcription	Fetal Lung	lung
14	chr3:100265600-100266800	Weak transcription	HSMMtube	muscle
15	chr3:100265600-100266800	Weak transcription	NHEK	skin
16	chr3:100265800-100269400	Weak transcription	Hela-S3	cervix
17	chr3:100265800-100271800	Weak transcription	Liver	Liver
18	chr3:100265800-100300600	Weak transcription	HepG2	liver
19	chr3:100266000-100270000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr3:100266400-100270600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr3:100266600-100267600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr3:100266600-100267600	Enhancers	NHDF-Ad	bronchial
23	chr3:100266600-100267800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:100266600-100268000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr3:100266600-100268600	Enhancers	HMEC	breast

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