Variant report

Variant	rs13023889
Chromosome Location	chr2:114650965-114650966
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:114649589..114651914-chr2:114675375..114678075,2	MCF-7	breast:
2	chr2:114510034..114517579-chr2:114643441..114655407,23	MCF-7	breast:
3	chr2:114650237..114652032-chr2:114672762..114674303,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115084	Chromatin interaction

Extended variants
information (count: 108 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:108)

rs_ID	r²[population]
rs10187984	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10199075	0.85[EUR][1000 genomes]
rs1022411	0.88[EUR][1000 genomes]
rs11899899	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12711789	0.88[EUR][1000 genomes]
rs12711791	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12988574	0.90[EUR][1000 genomes]
rs12989186	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12992256	0.88[EUR][1000 genomes]
rs13000991	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13001665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13004463	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13006608	0.95[EUR][1000 genomes]
rs13006901	0.85[EUR][1000 genomes]
rs13007764	0.90[EUR][1000 genomes]
rs13007971	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13009390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13011381	1.00[EUR][1000 genomes]
rs13020063	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13021259	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13024337	1.00[EUR][1000 genomes]
rs13031774	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13031792	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13036249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13397191	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13414001	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13425176	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17040412	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17045321	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17045324	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17045956	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs28376055	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34011463	0.90[EUR][1000 genomes]
rs34084885	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34193182	1.00[EUR][1000 genomes]
rs34244501	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34267159	0.88[EUR][1000 genomes]
rs34278749	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34280871	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34308150	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34380051	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34446531	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34496519	0.90[EUR][1000 genomes]
rs34574779	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34699644	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34764202	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34767335	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34819185	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34859032	0.85[EUR][1000 genomes]
rs34868595	0.90[EUR][1000 genomes]
rs35024634	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35047042	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35086061	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35131331	0.90[EUR][1000 genomes]
rs35147957	0.88[EUR][1000 genomes]
rs35201383	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35308064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35310217	0.88[EUR][1000 genomes]
rs35328354	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35363095	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35503998	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35821829	1.00[EUR][1000 genomes]
rs35881779	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35921649	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36040648	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs36079093	0.90[EUR][1000 genomes]
rs55688180	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55923556	0.88[EUR][1000 genomes]
rs62169872	0.82[EUR][1000 genomes]
rs62169873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62169876	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62169884	0.95[EUR][1000 genomes]
rs62169886	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62169890	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62169928	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62169932	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62169933	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62171765	0.90[EUR][1000 genomes]
rs62171766	0.90[EUR][1000 genomes]
rs66541229	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs66563583	0.90[EUR][1000 genomes]
rs66720895	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs66801277	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6707751	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6710288	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6710525	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6713995	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6716919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6718539	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6730338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6730373	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67368963	0.88[EUR][1000 genomes]
rs6740522	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6757220	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs67903387	0.91[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72835421	0.88[EUR][1000 genomes]
rs7564594	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7599403	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7602149	0.97[EUR][1000 genomes]
rs7602644	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9308688	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9677247	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9677951	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9678565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9678689	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9679712	0.91[AFR][1000 genomes];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
rs13023889	ACTR3	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114646600-114651000	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr2:114648600-114651600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:114648600-114651600	Weak transcription	Esophagus	oesophagus
4	chr2:114648600-114651600	Weak transcription	Spleen	Spleen
5	chr2:114648600-114657800	Weak transcription	Gastric	stomach
6	chr2:114648600-114667600	Weak transcription	Lung	lung
7	chr2:114648800-114651600	Weak transcription	Pancreas	Pancrea
8	chr2:114648800-114653400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:114649000-114651800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:114649000-114652000	Weak transcription	Ovary	ovary
11	chr2:114649200-114651400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr2:114649200-114651400	Enhancers	Liver	Liver
13	chr2:114649200-114652000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr2:114649200-114652000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr2:114649200-114653200	Enhancers	Brain Anterior Caudate	brain
16	chr2:114649200-114653400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:114649200-114661200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr2:114649200-114673200	Weak transcription	Placenta	Placenta
19	chr2:114649400-114651000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr2:114649400-114651600	Weak transcription	Colonic Mucosa	Colon
21	chr2:114649400-114652200	Enhancers	Brain Angular Gyrus	brain
22	chr2:114649400-114654000	Genic enhancers	Primary B cells from peripheral blood	blood
23	chr2:114649400-114655200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr2:114649600-114652000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr2:114649600-114661000	Weak transcription	Fetal Muscle Leg	muscle
26	chr2:114649800-114651200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr2:114649800-114651400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr2:114649800-114652400	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
29	chr2:114649800-114653800	Weak transcription	Fetal Stomach	stomach
30	chr2:114649800-114655600	Enhancers	Small Intestine	intestine
31	chr2:114650000-114651000	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr2:114650000-114651400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr2:114650000-114651800	Enhancers	Duodenum Mucosa	Duodenum
34	chr2:114650000-114652000	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr2:114650000-114652400	Enhancers	Colon Smooth Muscle	Colon
36	chr2:114650000-114653000	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:114650000-114653000	Weak transcription	Right Atrium	heart
38	chr2:114650000-114654400	Weak transcription	Fetal Intestine Small	intestine
39	chr2:114650000-114655600	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr2:114650200-114651000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:114650200-114651200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr2:114650200-114651200	Flanking Active TSS	Primary T cells from cord blood	blood
43	chr2:114650200-114651200	Weak transcription	Brain Hippocampus Middle	brain
44	chr2:114650200-114651400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr2:114650200-114651400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr2:114650200-114651400	Weak transcription	Brain Substantia Nigra	brain
47	chr2:114650200-114651400	Enhancers	Fetal Brain Female	brain
48	chr2:114650200-114651400	Weak transcription	Fetal Heart	heart
49	chr2:114650200-114651400	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr2:114650200-114651400	Enhancers	HepG2	liver

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