Variant report

Variant	rs17045321
Chromosome Location	chr2:114631852-114631853
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:114599733..114601786-chr2:114631688..114635727,3	MCF-7	breast:
2	chr2:114623730..114625967-chr2:114629476..114631901,2	K562	blood:
3	chr2:114630936..114633631-chr2:114645120..114648314,3	MCF-7	breast:
4	chr2:114623730..114628416-chr2:114629384..114634223,5	K562	blood:

Variant related genes	Relation type
ENSG00000115091	Chromatin interaction
ENSG00000228857	Chromatin interaction
ENSG00000270019	Chromatin interaction

Extended variants
information (count: 112 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs10187984	0.97[EUR][1000 genomes]
rs10199075	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs1022411	0.88[EUR][1000 genomes]
rs1028246	1.00[CEU][hapmap]
rs11899899	0.88[EUR][1000 genomes]
rs12711789	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs12711791	0.88[EUR][1000 genomes]
rs12988574	1.00[CEU][hapmap];0.82[YRI][hapmap];0.90[EUR][1000 genomes]
rs12989186	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12992256	0.88[EUR][1000 genomes]
rs13000991	0.90[EUR][1000 genomes]
rs13001665	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13004463	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13006608	0.95[EUR][1000 genomes]
rs13006901	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs13007764	0.90[EUR][1000 genomes]
rs13007971	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13009390	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13011381	1.00[EUR][1000 genomes]
rs13020063	0.90[EUR][1000 genomes]
rs13021259	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13023889	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13024337	1.00[CEU][hapmap];0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs13031774	0.93[EUR][1000 genomes]
rs13031792	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13036249	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13397191	0.88[EUR][1000 genomes]
rs13414001	0.97[EUR][1000 genomes]
rs13425176	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs17040412	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17045324	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17045956	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28376055	0.80[EUR][1000 genomes]
rs34011463	0.90[EUR][1000 genomes]
rs34084885	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34193182	1.00[EUR][1000 genomes]
rs34244501	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34267159	0.88[EUR][1000 genomes]
rs34278749	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34280871	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34308150	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34380051	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34446531	0.90[EUR][1000 genomes]
rs34496519	0.90[EUR][1000 genomes]
rs34574779	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34699644	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34764202	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34767335	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34819185	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34859032	0.85[EUR][1000 genomes]
rs34868595	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35024634	0.85[EUR][1000 genomes]
rs35047042	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35086061	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35131331	0.90[EUR][1000 genomes]
rs35147957	0.88[EUR][1000 genomes]
rs35201383	0.83[EUR][1000 genomes]
rs35308064	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35310217	0.88[EUR][1000 genomes]
rs35328354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35363095	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35503998	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35821829	1.00[EUR][1000 genomes]
rs35881779	0.90[EUR][1000 genomes]
rs35921649	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36040648	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs36079093	0.90[EUR][1000 genomes]
rs4848357	1.00[CEU][hapmap]
rs55688180	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55923556	0.88[EUR][1000 genomes]
rs62169872	0.82[EUR][1000 genomes]
rs62169873	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62169876	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62169884	0.95[EUR][1000 genomes]
rs62169886	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62169890	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62169928	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62169932	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62169933	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62171765	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62171766	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6542176	1.00[CEU][hapmap]
rs66541229	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs66563583	0.90[EUR][1000 genomes]
rs66720895	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs66801277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6707751	0.88[EUR][1000 genomes]
rs6710288	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6710525	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs6713995	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6716919	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6718539	0.88[EUR][1000 genomes]
rs6730338	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6730373	0.95[EUR][1000 genomes]
rs67368963	0.88[EUR][1000 genomes]
rs6740522	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6743807	1.00[CEU][hapmap]
rs6757220	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67903387	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72835421	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7564594	0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7599403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7602149	0.97[EUR][1000 genomes]
rs7602644	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9308688	0.97[EUR][1000 genomes]
rs9677247	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9677951	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9678565	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9678689	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9679712	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs9941605	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs9941668	0.88[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17045321	ACTR3	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:43 , 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	chr2:114621200-114639600	Weak transcription	GM12878-XiMat	blood
3	chr2:114621400-114638400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr2:114625800-114633800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr2:114626400-114635000	Weak transcription	Primary B cells from cord blood	blood
6	chr2:114626600-114634200	Weak transcription	Thymus	Thymus
7	chr2:114626600-114634400	Weak transcription	Pancreas	Pancrea
8	chr2:114626800-114635000	Weak transcription	Primary B cells from peripheral blood	blood
9	chr2:114629800-114632400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr2:114630000-114632000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:114630200-114634200	Weak transcription	NHLF	lung
12	chr2:114630200-114634600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:114630200-114635000	Weak transcription	HSMM	muscle
14	chr2:114630200-114635200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:114630400-114634200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:114630400-114635000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:114630400-114635000	Weak transcription	HSMMtube	muscle
18	chr2:114630400-114635000	Weak transcription	NHDF-Ad	bronchial
19	chr2:114630400-114635200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr2:114630400-114635200	Weak transcription	Osteobl	bone
21	chr2:114630400-114635400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:114631200-114632000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr2:114631200-114632000	Enhancers	Hela-S3	cervix
24	chr2:114631200-114632400	Enhancers	HUVEC	blood vessel
25	chr2:114631200-114632600	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr2:114631400-114632000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:114631400-114632000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:114631400-114632000	Enhancers	Muscle Satellite Cultured Cells	--
29	chr2:114631400-114632200	Enhancers	HMEC	breast
30	chr2:114631400-114633400	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr2:114631400-114635200	Weak transcription	Small Intestine	intestine
32	chr2:114631400-114644000	Weak transcription	Spleen	Spleen
33	chr2:114631600-114632000	Weak transcription	Primary T cells from cord blood	blood
34	chr2:114631600-114632000	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr2:114631600-114636400	Weak transcription	Left Ventricle	heart
36	chr2:114631800-114632000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:114631800-114632400	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr2:114631800-114633200	Weak transcription	Fetal Thymus	thymus
39	chr2:114631800-114633400	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr2:114631800-114633600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr2:114631800-114634400	Weak transcription	NH-A	brain
42	chr2:114631800-114635400	Weak transcription	Adipose Nuclei	Adipose
43	chr2:114631800-114639000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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