Variant report

Variant	rs6713995
Chromosome Location	chr2:114695935-114695936
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:93)

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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6713995	ACTR3	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:123 , 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	chr2:114653600-114734800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:114667400-114700800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:114667800-114705000	Weak transcription	Esophagus	oesophagus
5	chr2:114668200-114704800	Weak transcription	Gastric	stomach
6	chr2:114668400-114696200	Weak transcription	Small Intestine	intestine
7	chr2:114668400-114735000	Weak transcription	Stomach Mucosa	stomach
8	chr2:114668800-114703200	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:114670800-114717400	Strong transcription	Fetal Thymus	thymus
10	chr2:114670800-114719000	Strong transcription	Dnd41	blood
11	chr2:114671000-114704800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:114671000-114720000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:114672000-114723200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:114673000-114703000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:114674400-114715800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:114676000-114706200	Weak transcription	Hela-S3	cervix
17	chr2:114676200-114696200	Weak transcription	Pancreas	Pancrea
18	chr2:114676200-114704800	Weak transcription	Spleen	Spleen
19	chr2:114676600-114719800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr2:114680200-114703200	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr2:114680400-114721200	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr2:114681600-114717600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr2:114681600-114719400	Strong transcription	NH-A	brain
24	chr2:114681800-114722600	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr2:114682600-114723400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:114682600-114725000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr2:114683000-114715800	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr2:114683400-114696000	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr2:114683400-114719800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:114683400-114720000	Strong transcription	NHDF-Ad	bronchial
31	chr2:114683600-114696000	Strong transcription	Duodenum Mucosa	Duodenum
32	chr2:114684400-114696000	Weak transcription	Lung	lung
33	chr2:114684800-114697600	Weak transcription	Colonic Mucosa	Colon
34	chr2:114687000-114718200	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr2:114687200-114698400	Weak transcription	Brain Angular Gyrus	brain
36	chr2:114687400-114719400	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr2:114687600-114696000	Weak transcription	Right Ventricle	heart
38	chr2:114687600-114704800	Weak transcription	Aorta	Aorta
39	chr2:114687600-114704800	Weak transcription	Fetal Stomach	stomach
40	chr2:114687800-114696000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr2:114688200-114715200	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr2:114688400-114719200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr2:114688600-114719400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:114688800-114699600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr2:114689000-114711000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
46	chr2:114689400-114715200	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr2:114689400-114716800	Strong transcription	Placenta	Placenta
48	chr2:114690600-114699200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:114690800-114696600	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr2:114691000-114699000	Strong transcription	NHEK	skin

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