Variant report

Variant	rs13036249
Chromosome Location	chr2:114658102-114658103
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:114656542..114659348-chr2:114663308..114664810,2	K562	blood:
2	chr2:114646598..114649515-chr2:114657676..114659590,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115091	Chromatin interaction
ENSG00000270019	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]
rs13023889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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]
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
rs13036249	ACTR3	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114648600-114667600	Weak transcription	Lung	lung
2	chr2:114649200-114661200	Weak transcription	Fetal Muscle Trunk	muscle
3	chr2:114649200-114673200	Weak transcription	Placenta	Placenta
4	chr2:114649600-114661000	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:114650200-114658400	Enhancers	Adipose Nuclei	Adipose
6	chr2:114650200-114658400	Enhancers	Stomach Mucosa	stomach
7	chr2:114650200-114661000	Weak transcription	Right Ventricle	heart
8	chr2:114652000-114667600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:114652000-114667600	Weak transcription	Esophagus	oesophagus
10	chr2:114652200-114700600	Weak transcription	Fetal Brain Male	brain
11	chr2:114652400-114660400	Weak transcription	Fetal Kidney	kidney
12	chr2:114652400-114686000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr2:114653000-114658400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:114653000-114659600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr2:114653200-114658200	Enhancers	Liver	Liver
16	chr2:114653200-114658400	Enhancers	A549	lung
17	chr2:114653200-114659200	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr2:114653200-114662400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:114653400-114659000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr2:114653400-114662000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr2:114653400-114672600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:114653600-114658200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:114653600-114734800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr2:114653800-114658400	Enhancers	Osteobl	bone
25	chr2:114653800-114658600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr2:114653800-114659000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:114654000-114660400	Enhancers	Primary B cells from peripheral blood	blood
28	chr2:114654000-114670000	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr2:114654200-114659200	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr2:114654400-114667600	Weak transcription	Thymus	Thymus
31	chr2:114654600-114658400	Weak transcription	Right Atrium	heart
32	chr2:114654600-114674600	Weak transcription	Hela-S3	cervix
33	chr2:114654600-114675400	Weak transcription	Fetal Stomach	stomach
34	chr2:114654800-114658200	Enhancers	Muscle Satellite Cultured Cells	--
35	chr2:114654800-114659000	Genic enhancers	Primary B cells from cord blood	blood
36	chr2:114654800-114659600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr2:114654800-114663400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr2:114654800-114666800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr2:114655400-114660200	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr2:114655400-114661000	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr2:114655400-114663000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:114655600-114658600	Weak transcription	Left Ventricle	heart
43	chr2:114655600-114661800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr2:114655600-114665400	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr2:114655600-114665800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr2:114655600-114667600	Weak transcription	HMEC	breast
47	chr2:114655600-114667800	Weak transcription	Fetal Intestine Small	intestine
48	chr2:114655800-114658200	Enhancers	HepG2	liver
49	chr2:114655800-114658400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:114655800-114658600	Enhancers	Primary T regulatory cells fromperipheralblood	blood

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