Variant report

Variant	rs34193182
Chromosome Location	chr2:114629539-114629540
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:114623730..114625967-chr2:114629476..114631901,2	K562	blood:
2	chr2:114574865..114577393-chr2:114628655..114630821,2	MCF-7	breast:
3	chr2:114623730..114628416-chr2:114629384..114634223,5	K562	blood:

Extended variants
information (count: 109 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs10187984	0.97[EUR][1000 genomes]
rs10199075	0.85[EUR][1000 genomes]
rs1022411	0.88[EUR][1000 genomes]
rs11899899	0.88[EUR][1000 genomes]
rs12711789	0.88[EUR][1000 genomes]
rs12711791	0.88[EUR][1000 genomes]
rs12988574	0.90[EUR][1000 genomes]
rs12989186	1.00[EUR][1000 genomes]
rs12992256	0.88[EUR][1000 genomes]
rs12994293	1.00[AFR][1000 genomes]
rs13000991	0.90[EUR][1000 genomes]
rs13001665	0.95[EUR][1000 genomes]
rs13004463	0.90[EUR][1000 genomes]
rs13006608	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13006901	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13007764	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13007971	1.00[EUR][1000 genomes]
rs13009390	1.00[EUR][1000 genomes]
rs13011381	1.00[EUR][1000 genomes]
rs13020063	0.90[EUR][1000 genomes]
rs13021259	0.90[EUR][1000 genomes]
rs13023889	1.00[EUR][1000 genomes]
rs13024337	1.00[EUR][1000 genomes]
rs13031774	0.93[EUR][1000 genomes]
rs13031792	0.95[EUR][1000 genomes]
rs13036249	1.00[EUR][1000 genomes]
rs13397191	0.88[EUR][1000 genomes]
rs13414001	0.97[EUR][1000 genomes]
rs13425176	0.88[EUR][1000 genomes]
rs17040412	1.00[EUR][1000 genomes]
rs17045321	1.00[EUR][1000 genomes]
rs17045324	1.00[EUR][1000 genomes]
rs17045956	0.95[EUR][1000 genomes]
rs28376055	0.80[EUR][1000 genomes]
rs34011463	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34084885	0.90[EUR][1000 genomes]
rs34244501	0.90[EUR][1000 genomes]
rs34267159	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34278749	0.90[EUR][1000 genomes]
rs34280871	0.90[EUR][1000 genomes]
rs34308150	1.00[EUR][1000 genomes]
rs34380051	0.90[EUR][1000 genomes]
rs34446531	0.90[EUR][1000 genomes]
rs34496519	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34574779	0.90[EUR][1000 genomes]
rs34699644	0.90[EUR][1000 genomes]
rs34764202	1.00[EUR][1000 genomes]
rs34767335	0.90[EUR][1000 genomes]
rs34819185	0.95[EUR][1000 genomes]
rs34859032	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34868595	0.90[EUR][1000 genomes]
rs35024634	0.85[EUR][1000 genomes]
rs35047042	0.90[EUR][1000 genomes]
rs35086061	0.87[EUR][1000 genomes]
rs35131331	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35147957	0.88[EUR][1000 genomes]
rs35201383	0.83[EUR][1000 genomes]
rs35308064	1.00[EUR][1000 genomes]
rs35310217	0.88[EUR][1000 genomes]
rs35328354	1.00[EUR][1000 genomes]
rs35363095	0.97[EUR][1000 genomes]
rs35503998	0.90[EUR][1000 genomes]
rs35821829	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35881779	0.90[EUR][1000 genomes]
rs35921649	1.00[EUR][1000 genomes]
rs36040648	0.95[EUR][1000 genomes]
rs36079093	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55688180	0.93[EUR][1000 genomes]
rs55923556	0.88[EUR][1000 genomes]
rs62169872	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs62169873	1.00[EUR][1000 genomes]
rs62169876	1.00[EUR][1000 genomes]
rs62169884	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62169886	0.90[EUR][1000 genomes]
rs62169890	0.90[EUR][1000 genomes]
rs62169928	0.90[EUR][1000 genomes]
rs62169932	0.90[EUR][1000 genomes]
rs62169933	0.90[EUR][1000 genomes]
rs62171765	0.90[EUR][1000 genomes]
rs62171766	0.90[EUR][1000 genomes]
rs66541229	0.90[EUR][1000 genomes]
rs66563583	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs66720895	0.90[EUR][1000 genomes]
rs66801277	1.00[EUR][1000 genomes]
rs6707751	0.88[EUR][1000 genomes]
rs6710288	0.90[EUR][1000 genomes]
rs6710525	0.88[EUR][1000 genomes]
rs6713995	0.90[EUR][1000 genomes]
rs6716919	1.00[EUR][1000 genomes]
rs6718539	0.88[EUR][1000 genomes]
rs6730338	1.00[EUR][1000 genomes]
rs6730373	0.95[EUR][1000 genomes]
rs67368963	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6740522	1.00[EUR][1000 genomes]
rs6757220	0.95[EUR][1000 genomes]
rs67903387	0.93[EUR][1000 genomes]
rs72835421	0.88[EUR][1000 genomes]
rs7564594	1.00[EUR][1000 genomes]
rs7599403	1.00[EUR][1000 genomes]
rs7602149	0.97[EUR][1000 genomes]
rs7602644	1.00[EUR][1000 genomes]
rs9308688	0.97[EUR][1000 genomes]
rs9677247	0.95[EUR][1000 genomes]
rs9677951	1.00[EUR][1000 genomes]
rs9678565	1.00[EUR][1000 genomes]
rs9678689	1.00[EUR][1000 genomes]
rs9679712	0.95[EUR][1000 genomes]
rs9941605	0.88[EUR][1000 genomes]
rs9941668	0.88[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34193182	ACTR3	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:25 , 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	chr2:114625800-114633800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:114626200-114631600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr2:114626400-114635000	Weak transcription	Primary B cells from cord blood	blood
11	chr2:114626600-114629800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:114626600-114631200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr2:114626600-114634200	Weak transcription	Thymus	Thymus
14	chr2:114626600-114634400	Weak transcription	Pancreas	Pancrea
15	chr2:114626800-114631200	Weak transcription	Fetal Thymus	thymus
16	chr2:114626800-114631400	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr2:114626800-114635000	Weak transcription	Primary B cells from peripheral blood	blood
18	chr2:114627400-114629600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:114628400-114629800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:114628800-114629600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:114629200-114631800	Enhancers	NH-A	brain
22	chr2:114629400-114630200	Enhancers	HSMM	muscle
23	chr2:114629400-114630400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:114629400-114630400	Enhancers	NHDF-Ad	bronchial
25	chr2:114629400-114630400	Enhancers	Osteobl	bone

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