Variant report

Variant	rs66563583
Chromosome Location	chr2:114608207-114608208
allele	A/G
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	GATA2	chr2:114608178-114608773	SH-SY5Y	brain:	n/a	chr2:114608693-114608704 chr2:114608414-114608421

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:114606862..114609755-chr2:114646079..114648477,2	K562	blood:

Variant related genes	Relation type
ENSG00000239077	TF binding region
ENSG00000270019	Chromatin interaction
ENSG00000115091	Chromatin interaction

rs_ID	r²[population]
rs10187984	0.88[EUR][1000 genomes]
rs10199075	0.95[EUR][1000 genomes]
rs1022411	0.97[EUR][1000 genomes]
rs1028246	0.81[EUR][1000 genomes]
rs12711789	0.97[EUR][1000 genomes]
rs12988574	0.80[EUR][1000 genomes]
rs12989186	0.90[EUR][1000 genomes]
rs12992256	0.97[EUR][1000 genomes]
rs13000991	0.80[EUR][1000 genomes]
rs13001665	0.85[EUR][1000 genomes]
rs13004463	0.80[EUR][1000 genomes]
rs13006608	0.85[EUR][1000 genomes]
rs13006901	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13007764	0.80[EUR][1000 genomes]
rs13007971	0.90[EUR][1000 genomes]
rs13009390	0.90[EUR][1000 genomes]
rs13011381	0.90[EUR][1000 genomes]
rs13020063	0.80[EUR][1000 genomes]
rs13021259	1.00[EUR][1000 genomes]
rs13023889	0.90[EUR][1000 genomes]
rs13024337	0.90[EUR][1000 genomes]
rs13031774	0.83[EUR][1000 genomes]
rs13031792	0.85[EUR][1000 genomes]
rs13036249	0.90[EUR][1000 genomes]
rs13414001	0.88[EUR][1000 genomes]
rs1403400	0.81[EUR][1000 genomes]
rs17040412	0.90[EUR][1000 genomes]
rs17045321	0.90[EUR][1000 genomes]
rs17045324	0.90[EUR][1000 genomes]
rs17045956	0.85[EUR][1000 genomes]
rs34011463	0.80[EUR][1000 genomes]
rs34084885	0.80[EUR][1000 genomes]
rs34193182	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34244501	1.00[EUR][1000 genomes]
rs34267159	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34278749	1.00[EUR][1000 genomes]
rs34280871	0.80[EUR][1000 genomes]
rs34308150	0.90[EUR][1000 genomes]
rs34380051	0.80[EUR][1000 genomes]
rs34446531	0.80[EUR][1000 genomes]
rs34496519	0.80[EUR][1000 genomes]
rs34574779	0.80[EUR][1000 genomes]
rs34699644	0.80[EUR][1000 genomes]
rs34764202	0.90[EUR][1000 genomes]
rs34767335	1.00[EUR][1000 genomes]
rs34819185	0.85[EUR][1000 genomes]
rs34859032	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34868595	1.00[EUR][1000 genomes]
rs35047042	0.80[EUR][1000 genomes]
rs35131331	0.80[EUR][1000 genomes]
rs35147957	0.97[EUR][1000 genomes]
rs35308064	0.90[EUR][1000 genomes]
rs35310217	0.97[EUR][1000 genomes]
rs35328354	0.90[EUR][1000 genomes]
rs35363095	0.88[EUR][1000 genomes]
rs35503998	0.80[EUR][1000 genomes]
rs35821829	0.90[EUR][1000 genomes]
rs35881779	0.80[EUR][1000 genomes]
rs35921649	0.90[EUR][1000 genomes]
rs36040648	0.85[EUR][1000 genomes]
rs36079093	0.80[EUR][1000 genomes]
rs4241125	0.81[EUR][1000 genomes]
rs4848355	0.81[EUR][1000 genomes]
rs4848357	0.86[EUR][1000 genomes]
rs55688180	0.83[EUR][1000 genomes]
rs55923556	0.97[EUR][1000 genomes]
rs62169873	0.90[EUR][1000 genomes]
rs62169876	0.90[EUR][1000 genomes]
rs62169884	0.85[EUR][1000 genomes]
rs62169886	0.80[EUR][1000 genomes]
rs62169890	0.80[EUR][1000 genomes]
rs62169928	0.80[EUR][1000 genomes]
rs62169932	0.80[EUR][1000 genomes]
rs62169933	0.80[EUR][1000 genomes]
rs62171765	1.00[EUR][1000 genomes]
rs62171766	1.00[EUR][1000 genomes]
rs6542176	0.81[EUR][1000 genomes]
rs66541229	0.80[EUR][1000 genomes]
rs66720895	0.80[EUR][1000 genomes]
rs66801277	0.90[EUR][1000 genomes]
rs6710288	0.80[EUR][1000 genomes]
rs6713995	0.80[EUR][1000 genomes]
rs6716919	0.90[EUR][1000 genomes]
rs6730338	0.90[EUR][1000 genomes]
rs6730373	0.85[EUR][1000 genomes]
rs67368963	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6740522	0.90[EUR][1000 genomes]
rs6743807	0.81[EUR][1000 genomes]
rs6757220	0.85[EUR][1000 genomes]
rs67903387	0.83[EUR][1000 genomes]
rs72835421	0.97[EUR][1000 genomes]
rs7564594	0.90[EUR][1000 genomes]
rs7573922	0.81[EUR][1000 genomes]
rs7599403	0.90[EUR][1000 genomes]
rs7602149	0.88[EUR][1000 genomes]
rs7602644	0.90[EUR][1000 genomes]
rs9308688	0.88[EUR][1000 genomes]
rs9677247	0.95[EUR][1000 genomes]
rs9677951	0.90[EUR][1000 genomes]
rs9678565	0.90[EUR][1000 genomes]
rs9678689	0.90[EUR][1000 genomes]
rs9679712	0.85[EUR][1000 genomes]
rs9941605	0.97[EUR][1000 genomes]
rs9941668	0.97[EUR][1000 genomes]

SNP	Gene	Cis/trans	Tissue	Source
rs66563583	ACTR3	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114596400-114621000	Weak transcription	Aorta	Aorta
2	chr2:114596600-114611600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:114596800-114632800	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr2:114597600-114631400	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr2:114601400-114612000	Weak transcription	Primary T cells from cord blood	blood
6	chr2:114602800-114626000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:114603800-114616000	Weak transcription	Spleen	Spleen
8	chr2:114603800-114631200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr2:114605200-114610400	Weak transcription	Primary B cells from cord blood	blood
10	chr2:114605400-114616000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:114606200-114621800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr2:114606600-114612400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:114607000-114616200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:114607200-114612400	Weak transcription	GM12878-XiMat	blood
15	chr2:114607200-114615200	Weak transcription	Osteobl	bone
16	chr2:114607200-114615800	Weak transcription	HMEC	breast
17	chr2:114607600-114610200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr2:114607800-114608600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:114608000-114608600	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr2:114608000-114608600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:114608000-114608800	Enhancers	Fetal Intestine Small	intestine
22	chr2:114608000-114609200	Enhancers	Fetal Intestine Large	intestine
23	chr2:114608200-114608400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:114608200-114608400	Enhancers	Pancreas	Pancrea
25	chr2:114608200-114608400	Enhancers	Thymus	Thymus
26	chr2:114608200-114608600	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr2:114608200-114608800	Enhancers	Fetal Lung	lung
28	chr2:114608200-114608800	Enhancers	Stomach Mucosa	stomach
29	chr2:114608200-114609400	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr2:114608200-114609600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:114608200-114609600	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr2:114608200-114610000	Enhancers	Ovary	ovary

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