Variant report

Variant	rs805402
Chromosome Location	chr2:54116349-54116350
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10084355	0.84[AMR][1000 genomes]
rs10201364	0.84[AMR][1000 genomes]
rs12713253	0.81[AMR][1000 genomes]
rs13417926	0.84[EUR][1000 genomes]
rs1421617	0.83[AMR][1000 genomes]
rs2111868	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
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	0.83[AMR][1000 genomes]
rs2909460	0.83[AMR][1000 genomes]
rs6545376	0.81[AMR][1000 genomes]
rs6545378	0.83[AMR][1000 genomes]
rs6749817	0.83[AMR][1000 genomes]
rs698854	0.90[EUR][1000 genomes]
rs698858	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs718872	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7569214	0.81[AMR][1000 genomes]
rs7571086	0.82[AMR][1000 genomes]
rs805308	0.85[AMR][1000 genomes]
rs805309	0.85[AMR][1000 genomes]
rs805317	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs805318	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs805320	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs805322	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs805330	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs805345	0.82[AMR][1000 genomes]
rs805358	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs805359	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs805360	0.81[ASN][1000 genomes]
rs805361	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs805366	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs805367	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs805373	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs805374	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs805375	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs805379	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs805380	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs805391	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs805392	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs805393	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs805396	0.83[AMR][1000 genomes]
rs805405	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs805410	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs805412	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs805421	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs805422	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs805423	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[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	0.90[EUR][1000 genomes]
rs805436	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs805438	0.91[EUR][1000 genomes]
rs805439	0.91[EUR][1000 genomes]
rs805441	0.85[EUR][1000 genomes]
rs805444	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs805450	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs805453	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs809280	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs805402	ACYP2	cis	Esophagus Muscularis	GTEx
rs805402	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	chr2:54087000-54168000	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr2:54087200-54176000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:54087400-54117400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:54087400-54137600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:54087600-54116600	Weak transcription	Pancreas	Pancrea
6	chr2:54087600-54117000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:54087600-54187600	Weak transcription	Stomach Mucosa	stomach
8	chr2:54088400-54137200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr2:54088600-54138000	Strong transcription	Primary B cells from peripheral blood	blood
10	chr2:54089800-54136000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr2:54090200-54137800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:54090200-54138200	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:54090400-54137600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:54090800-54137400	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr2:54091000-54137000	Strong transcription	Fetal Thymus	thymus
16	chr2:54091000-54137800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr2:54091000-54138000	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr2:54091200-54138000	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr2:54091400-54137600	Strong transcription	Liver	Liver
20	chr2:54093800-54124000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:54094000-54137800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr2:54099200-54137400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr2:54100400-54137800	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr2:54100400-54137800	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr2:54100400-54140200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr2:54100600-54123000	Strong transcription	Primary hematopoietic stem cells	blood
27	chr2:54100600-54137400	Strong transcription	Placenta	Placenta
28	chr2:54100600-54137800	Strong transcription	Primary B cells from cord blood	blood
29	chr2:54100600-54141200	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr2:54100800-54138000	Strong transcription	Fetal Muscle Trunk	muscle
31	chr2:54102000-54124400	Weak transcription	Small Intestine	intestine
32	chr2:54102200-54117400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:54103800-54129200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr2:54104600-54135600	Strong transcription	Primary T cells from cord blood	blood
35	chr2:54105800-54120400	Strong transcription	Fetal Intestine Large	intestine
36	chr2:54105800-54137200	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr2:54106000-54120400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:54106000-54138000	Strong transcription	Dnd41	blood
39	chr2:54106200-54138400	Strong transcription	Adipose Nuclei	Adipose
40	chr2:54106600-54137800	Strong transcription	Duodenum Mucosa	Duodenum
41	chr2:54107000-54123800	Strong transcription	HMEC	breast
42	chr2:54107200-54123000	Strong transcription	K562	blood
43	chr2:54107200-54123200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr2:54107200-54124200	Strong transcription	HepG2	liver
45	chr2:54108200-54120400	Strong transcription	Fetal Muscle Leg	muscle
46	chr2:54108200-54137400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr2:54108200-54177400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:54108400-54135600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr2:54108400-54137400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr2:54108600-54119600	Strong transcription	Sigmoid Colon	Sigmoid Colon

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