Variant report

Variant	rs13031774
Chromosome Location	chr2:114681778-114681779
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr2:114681105-114681778	GM12878	blood:	n/a	n/a
2	POLR2A	chr2:114681572-114682117	GM12892	blood:	n/a	n/a
3	POLR2A	chr2:114679178-114682100	GM12878	blood:	n/a	n/a
4	SPI1	chr2:114680836-114681901	GM12878	blood:	n/a	chr2:114681301-114681314 chr2:114681430-114681439
5	POLR2A	chr2:114681131-114682600	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:114672608..114675280-chr2:114681471..114684124,3	K562	blood:
2	chr2:114660896..114663334-chr2:114680597..114683237,2	K562	blood:
3	chr2:114672608..114674556-chr2:114681471..114684124,2	K562	blood:

Variant related genes	Relation type
ACTR3	TF binding region

Extended variants
information (count: 106 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs10187984	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10199075	0.83[EUR][1000 genomes]
rs1022411	0.85[EUR][1000 genomes]
rs11899895	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs11899899	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12711789	0.85[EUR][1000 genomes]
rs12711791	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12988574	0.93[EUR][1000 genomes]
rs12989186	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12992256	0.85[EUR][1000 genomes]
rs13000991	0.93[EUR][1000 genomes]
rs13001665	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13004463	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13006608	0.97[EUR][1000 genomes]
rs13007764	0.93[EUR][1000 genomes]
rs13007971	0.93[EUR][1000 genomes]
rs13009390	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13011381	0.93[EUR][1000 genomes]
rs13020063	0.93[EUR][1000 genomes]
rs13021259	0.83[EUR][1000 genomes]
rs13023889	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13024337	0.93[EUR][1000 genomes]
rs13031792	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13036249	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13397191	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13414001	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13425176	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17040412	0.93[EUR][1000 genomes]
rs17045321	0.93[EUR][1000 genomes]
rs17045324	0.93[EUR][1000 genomes]
rs17045956	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28376055	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34011463	0.93[EUR][1000 genomes]
rs34084885	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34193182	0.93[EUR][1000 genomes]
rs34244501	0.83[EUR][1000 genomes]
rs34267159	0.81[EUR][1000 genomes]
rs34278749	0.83[EUR][1000 genomes]
rs34280871	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34308150	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34380051	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34446531	0.93[EUR][1000 genomes]
rs34496519	0.93[EUR][1000 genomes]
rs34574779	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34699644	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34764202	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34767335	0.83[EUR][1000 genomes]
rs34819185	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34868595	0.83[EUR][1000 genomes]
rs35024634	0.88[EUR][1000 genomes]
rs35047042	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35086061	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35131331	0.93[EUR][1000 genomes]
rs35147957	0.85[EUR][1000 genomes]
rs35201383	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35308064	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35310217	0.85[EUR][1000 genomes]
rs35328354	0.93[EUR][1000 genomes]
rs35363095	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35503998	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35821829	0.93[EUR][1000 genomes]
rs35881779	0.93[EUR][1000 genomes]
rs35921649	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs36040648	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs36079093	0.93[EUR][1000 genomes]
rs55688180	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55923556	0.85[EUR][1000 genomes]
rs62169873	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62169876	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62169884	0.97[EUR][1000 genomes]
rs62169886	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62169890	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62169928	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62169932	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62169933	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62171765	0.83[EUR][1000 genomes]
rs62171766	0.83[EUR][1000 genomes]
rs66541229	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs66563583	0.83[EUR][1000 genomes]
rs66720895	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs66801277	0.93[EUR][1000 genomes]
rs6707751	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6710288	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6710525	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6713995	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6716919	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6718539	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6730338	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6730373	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs67368963	0.81[EUR][1000 genomes]
rs6740522	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6757220	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67903387	0.86[EUR][1000 genomes]
rs72835421	0.81[EUR][1000 genomes]
rs7564594	0.93[EUR][1000 genomes]
rs7599403	0.93[EUR][1000 genomes]
rs7602149	0.95[EUR][1000 genomes]
rs7602644	0.93[EUR][1000 genomes]
rs9308688	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9677247	0.88[EUR][1000 genomes]
rs9677951	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9678565	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9678689	0.93[EUR][1000 genomes]
rs9679712	0.88[EUR][1000 genomes]
rs9941605	0.85[EUR][1000 genomes]
rs9941668	0.85[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13031774	ACTR3	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114652200-114700600	Weak transcription	Fetal Brain Male	brain
2	chr2:114652400-114686000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:114653600-114734800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:114658000-114689400	Weak transcription	Fetal Heart	heart
5	chr2:114661200-114683800	Weak transcription	Colonic Mucosa	Colon
6	chr2:114662800-114690600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:114665400-114692800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr2:114667400-114700800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:114667800-114705000	Weak transcription	Esophagus	oesophagus
10	chr2:114668000-114690800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:114668200-114692600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr2:114668200-114695800	Weak transcription	Psoas Muscle	Psoas
13	chr2:114668200-114704800	Weak transcription	Gastric	stomach
14	chr2:114668400-114696200	Weak transcription	Small Intestine	intestine
15	chr2:114668400-114735000	Weak transcription	Stomach Mucosa	stomach
16	chr2:114668600-114692800	Weak transcription	Colon Smooth Muscle	Colon
17	chr2:114668800-114703200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr2:114669000-114686400	Weak transcription	Brain Angular Gyrus	brain
19	chr2:114669200-114686400	Weak transcription	Brain Substantia Nigra	brain
20	chr2:114669400-114693400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:114670800-114693000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:114670800-114717400	Strong transcription	Fetal Thymus	thymus
23	chr2:114670800-114719000	Strong transcription	Dnd41	blood
24	chr2:114671000-114684600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:114671000-114695000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:114671000-114704800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr2:114671000-114720000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:114671200-114692800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:114671200-114694000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:114672000-114723200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:114672400-114682200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
32	chr2:114673000-114703000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr2:114674400-114715800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:114675000-114691600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr2:114675800-114684600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr2:114675800-114685600	Weak transcription	Brain Anterior Caudate	brain
37	chr2:114675800-114686000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr2:114676000-114685800	Weak transcription	Fetal Brain Female	brain
39	chr2:114676000-114706200	Weak transcription	Hela-S3	cervix
40	chr2:114676200-114682400	Weak transcription	Lung	lung
41	chr2:114676200-114685800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr2:114676200-114686000	Weak transcription	Fetal Muscle Trunk	muscle
43	chr2:114676200-114686400	Weak transcription	Aorta	Aorta
44	chr2:114676200-114686800	Weak transcription	Ovary	ovary
45	chr2:114676200-114696200	Weak transcription	Pancreas	Pancrea
46	chr2:114676200-114704800	Weak transcription	Spleen	Spleen
47	chr2:114676400-114686000	Weak transcription	Left Ventricle	heart
48	chr2:114676400-114686000	Weak transcription	Rectal Smooth Muscle	rectum
49	chr2:114676600-114683600	Weak transcription	Fetal Muscle Leg	muscle
50	chr2:114676600-114684800	Weak transcription	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links