Variant report

Variant	rs34244501
Chromosome Location	chr2:114626003-114626004
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	chr2:114623730..114628416-chr2:114629384..114634223,5	K562	blood:
2	chr2:114624157..114627131-chr2:114645783..114647455,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270019	Chromatin interaction

Extended variants
information (count: 105 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:105)

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	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12992256	0.97[EUR][1000 genomes]
rs13000991	0.80[EUR][1000 genomes]
rs13001665	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13004463	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13006608	0.85[EUR][1000 genomes]
rs13006901	0.95[EUR][1000 genomes]
rs13007764	0.80[EUR][1000 genomes]
rs13007971	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13009390	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13011381	0.90[EUR][1000 genomes]
rs13020063	0.80[EUR][1000 genomes]
rs13021259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13023889	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13024337	0.90[EUR][1000 genomes]
rs13031774	0.83[EUR][1000 genomes]
rs13031792	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13036249	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13414001	0.88[EUR][1000 genomes]
rs1403400	0.81[EUR][1000 genomes]
rs17040412	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17045321	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17045324	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17045956	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34011463	0.80[EUR][1000 genomes]
rs34084885	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34193182	0.90[EUR][1000 genomes]
rs34267159	0.97[EUR][1000 genomes]
rs34278749	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34280871	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34308150	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34380051	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34446531	0.80[EUR][1000 genomes]
rs34496519	0.80[EUR][1000 genomes]
rs34574779	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34699644	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34764202	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34767335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34819185	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34859032	0.95[EUR][1000 genomes]
rs34868595	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35047042	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35086061	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs35131331	0.80[EUR][1000 genomes]
rs35147957	0.97[EUR][1000 genomes]
rs35308064	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35310217	0.97[EUR][1000 genomes]
rs35328354	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35363095	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35503998	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35821829	0.90[EUR][1000 genomes]
rs35881779	0.80[EUR][1000 genomes]
rs35921649	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs36040648	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];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	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55923556	0.97[EUR][1000 genomes]
rs62169873	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62169876	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62169884	0.85[EUR][1000 genomes]
rs62169886	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62169890	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62169928	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62169932	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62169933	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62171765	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62171766	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6542176	0.81[EUR][1000 genomes]
rs66541229	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs66563583	1.00[EUR][1000 genomes]
rs66720895	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs66801277	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6710288	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6713995	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6716919	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6730338	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6730373	0.85[EUR][1000 genomes]
rs67368963	0.97[EUR][1000 genomes]
rs6740522	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6743807	0.81[EUR][1000 genomes]
rs6757220	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs67903387	0.98[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs72835421	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7564594	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7573922	0.81[EUR][1000 genomes]
rs7599403	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7602149	0.88[EUR][1000 genomes]
rs7602644	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9308688	0.88[EUR][1000 genomes]
rs9677247	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9677951	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9678565	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9678689	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9679712	0.98[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs9941605	0.97[EUR][1000 genomes]
rs9941668	0.97[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34244501	ACTR3	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114596800-114632800	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr2:114597600-114631400	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr2:114603800-114631200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr2:114613200-114631400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr2:114619000-114631400	Weak transcription	Primary T cells from cord blood	blood
6	chr2:114621200-114639600	Weak transcription	GM12878-XiMat	blood
7	chr2:114621400-114638400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr2:114623600-114628800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:114625000-114626200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:114625000-114626200	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr2:114625000-114626800	Enhancers	Primary B cells from peripheral blood	blood
12	chr2:114625200-114626200	Enhancers	Duodenum Mucosa	Duodenum
13	chr2:114625400-114626600	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr2:114625400-114626800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr2:114625600-114626200	Flanking Active TSS	HepG2	liver
16	chr2:114625800-114626400	Enhancers	Primary B cells from cord blood	blood
17	chr2:114625800-114633800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr2:114626000-114626600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr2:114626000-114626600	Enhancers	Thymus	Thymus
20	chr2:114626000-114626600	Enhancers	K562	blood
21	chr2:114626000-114626800	Enhancers	Fetal Thymus	thymus

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