Variant report

Variant	rs805366
Chromosome Location	chr2:54170887-54170888
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54169796..54171728-chr2:54173892..54176111,2	K562	blood:
2	chr2:54169107..54171499-chr2:54174293..54176041,2	MCF-7	breast:
3	chr2:54169796..54173175-chr2:54173892..54178351,4	K562	blood:

Variant related genes	Relation type
ENSG00000068878	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10084355	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10201364	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10203576	0.80[AMR][1000 genomes]
rs11125519	0.81[AMR][1000 genomes]
rs11687324	0.82[AMR][1000 genomes]
rs12713253	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1363062	0.81[AMR][1000 genomes]
rs1363063	0.83[AMR][1000 genomes]
rs1421617	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1421622	0.80[AMR][1000 genomes]
rs17268179	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2111868	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2542576	0.80[EUR][1000 genomes]
rs2884254	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2909460	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6545376	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6545378	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6749817	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs698854	0.83[EUR][1000 genomes]
rs698858	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs718872	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7569214	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7569370	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7571086	0.85[AMR][1000 genomes]
rs805308	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs805309	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs805317	0.81[AMR][1000 genomes]
rs805318	0.81[AMR][1000 genomes]
rs805320	0.82[AMR][1000 genomes]
rs805322	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs805330	0.82[AMR][1000 genomes]
rs805335	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs805341	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs805343	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs805345	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs805358	0.87[AMR][1000 genomes]
rs805359	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs805361	0.87[AMR][1000 genomes]
rs805367	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs805374	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs805375	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs805379	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs805380	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs805391	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs805392	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs805393	0.84[AMR][1000 genomes]
rs805402	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs805405	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs805410	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs805412	0.81[AMR][1000 genomes]
rs805421	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs805422	0.83[AMR][1000 genomes]
rs805423	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs805424	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs805430	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs805433	0.82[EUR][1000 genomes]
rs805436	0.82[EUR][1000 genomes]
rs805438	0.84[EUR][1000 genomes]
rs805439	0.84[EUR][1000 genomes]
rs805444	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs805450	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs805453	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs809280	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs805366	ACYP2	cis	Muscle Skeletal	GTEx
rs805366	ACYP2	cis	Esophagus Muscularis	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54087200-54176000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:54087600-54187600	Weak transcription	Stomach Mucosa	stomach
3	chr2:54108200-54177400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:54109800-54179800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:54122200-54172800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr2:54135600-54172200	Weak transcription	Fetal Heart	heart
7	chr2:54139200-54176600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:54139200-54177000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:54139400-54176200	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:54139600-54177000	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr2:54143000-54177600	Strong transcription	HepG2	liver
12	chr2:54143400-54176200	Strong transcription	HMEC	breast
13	chr2:54149800-54177000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:54151000-54189800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:54153200-54179800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr2:54153400-54194600	Weak transcription	Fetal Brain Male	brain
17	chr2:54156600-54188000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:54156600-54190000	Weak transcription	Spleen	Spleen
19	chr2:54158600-54173600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:54159200-54173200	Weak transcription	Gastric	stomach
21	chr2:54159200-54177000	Weak transcription	Pancreas	Pancrea
22	chr2:54159200-54177200	Weak transcription	Right Ventricle	heart
23	chr2:54159200-54188000	Weak transcription	Colonic Mucosa	Colon
24	chr2:54159200-54188000	Weak transcription	Esophagus	oesophagus
25	chr2:54159200-54188200	Weak transcription	Small Intestine	intestine
26	chr2:54159200-54189400	Weak transcription	Aorta	Aorta
27	chr2:54159200-54189800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:54159400-54195800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:54160000-54173600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr2:54160800-54172400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:54160800-54173600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:54160800-54173600	Weak transcription	Fetal Intestine Small	intestine
33	chr2:54160800-54173800	Weak transcription	Thymus	Thymus
34	chr2:54160800-54177200	Weak transcription	Lung	lung
35	chr2:54160800-54179400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:54161600-54172200	Weak transcription	Brain Anterior Caudate	brain
37	chr2:54161600-54189800	Weak transcription	Ovary	ovary
38	chr2:54162000-54173200	Weak transcription	Psoas Muscle	Psoas
39	chr2:54162800-54172200	Weak transcription	Brain Cingulate Gyrus	brain
40	chr2:54162800-54172200	Weak transcription	HSMMtube	muscle
41	chr2:54162800-54173200	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr2:54162800-54173400	Weak transcription	Stomach Smooth Muscle	stomach
43	chr2:54163400-54173600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr2:54163400-54174000	Weak transcription	Fetal Kidney	kidney
45	chr2:54163600-54171800	Weak transcription	Colon Smooth Muscle	Colon
46	chr2:54163600-54173200	Weak transcription	NHLF	lung
47	chr2:54163600-54180400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr2:54164000-54173600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr2:54164000-54176400	Weak transcription	Fetal Brain Female	brain
50	chr2:54164200-54177000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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