Variant report

Variant	rs805391
Chromosome Location	chr2:54104318-54104319
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10084355	0.80[AMR][1000 genomes]
rs10201364	0.80[AMR][1000 genomes]
rs11683654	0.82[CHB][hapmap]
rs13417926	0.83[EUR][1000 genomes]
rs13432632	0.93[CEU][hapmap]
rs1363062	0.85[CEU][hapmap];0.87[CHB][hapmap]
rs1363063	0.80[CEU][hapmap];0.83[CHB][hapmap]
rs1421617	0.85[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes]
rs17045439	0.91[JPT][hapmap]
rs2111623	0.96[CEU][hapmap]
rs2111868	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2160931	0.92[CEU][hapmap]
rs2302878	0.91[JPT][hapmap]
rs2357693	0.96[CEU][hapmap]
rs2542574	0.86[EUR][1000 genomes]
rs2542576	0.87[EUR][1000 genomes]
rs2542579	0.82[EUR][1000 genomes]
rs2692518	0.85[EUR][1000 genomes]
rs2884254	0.81[AMR][1000 genomes]
rs2909460	0.81[AMR][1000 genomes]
rs3821081	0.92[CEU][hapmap]
rs6708095	0.96[CEU][hapmap]
rs6724389	0.80[CEU][hapmap]
rs6749817	0.81[CEU][hapmap];0.87[CHB][hapmap];0.81[AMR][1000 genomes]
rs698854	0.89[EUR][1000 genomes]
rs698858	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs718872	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7558126	0.88[CHB][hapmap]
rs7569214	0.85[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap]
rs7569370	0.85[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap]
rs7596349	0.96[CEU][hapmap]
rs7601692	0.89[CEU][hapmap]
rs805308	0.82[CEU][hapmap];0.88[CHB][hapmap];0.83[JPT][hapmap];0.83[AMR][1000 genomes]
rs805309	0.85[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes]
rs805317	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs805318	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs805320	0.91[ASN][1000 genomes]
rs805322	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs805330	0.91[ASN][1000 genomes]
rs805341	0.89[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap]
rs805345	0.80[AMR][1000 genomes]
rs805358	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs805359	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs805360	0.87[CHB][hapmap];0.82[JPT][hapmap];0.83[ASN][1000 genomes]
rs805361	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs805366	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs805367	0.96[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs805373	0.81[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs805374	0.89[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs805375	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs805379	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs805380	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs805392	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs805393	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs805396	0.83[AMR][1000 genomes]
rs805402	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs805405	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs805410	0.96[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs805412	0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs805421	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs805422	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs805423	0.92[CEU][hapmap];0.93[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs805424	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs805430	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs805433	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs805436	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs805438	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs805439	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs805441	0.85[EUR][1000 genomes]
rs805450	0.93[CEU][hapmap];0.87[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs805453	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs809280	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs805391	ACYP2	cis	Esophagus Muscularis	GTEx
rs805391	ACYP2	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54085400-54106600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:54087000-54168000	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr2:54087200-54176000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:54087400-54112200	Weak transcription	Psoas Muscle	Psoas
5	chr2:54087400-54112600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:54087400-54117400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:54087400-54137600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:54087600-54110800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr2:54087600-54113600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:54087600-54116600	Weak transcription	Pancreas	Pancrea
11	chr2:54087600-54117000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr2:54087600-54187600	Weak transcription	Stomach Mucosa	stomach
13	chr2:54087800-54112200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr2:54088000-54113800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr2:54088400-54137200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:54088600-54138000	Strong transcription	Primary B cells from peripheral blood	blood
17	chr2:54089200-54104400	Strong transcription	Osteobl	bone
18	chr2:54089800-54106200	Strong transcription	Left Ventricle	heart
19	chr2:54089800-54136000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr2:54090200-54107400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:54090200-54137800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr2:54090200-54138200	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr2:54090400-54137600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:54090800-54137400	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr2:54091000-54137000	Strong transcription	Fetal Thymus	thymus
26	chr2:54091000-54137800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr2:54091000-54138000	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr2:54091200-54138000	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr2:54091400-54137600	Strong transcription	Liver	Liver
30	chr2:54091800-54104400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:54093800-54124000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:54094000-54110600	Weak transcription	Colon Smooth Muscle	Colon
33	chr2:54094000-54137800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr2:54094600-54110400	Weak transcription	Esophagus	oesophagus
35	chr2:54094800-54113200	Weak transcription	Spleen	Spleen
36	chr2:54095400-54111800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr2:54095600-54109400	Weak transcription	NHLF	lung
38	chr2:54095800-54105000	Strong transcription	HMEC	breast
39	chr2:54096800-54106000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr2:54097400-54104400	Strong transcription	Fetal Stomach	stomach
41	chr2:54098400-54107800	Weak transcription	Right Atrium	heart
42	chr2:54098800-54105000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:54099200-54137400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:54099400-54105000	Strong transcription	GM12878-XiMat	blood
45	chr2:54100400-54137800	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr2:54100400-54137800	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr2:54100400-54140200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr2:54100600-54104400	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr2:54100600-54105000	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr2:54100600-54105200	Strong transcription	NH-A	brain

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