Variant report

Variant	rs805322
Chromosome Location	chr2:54139895-54139896
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54139388..54141626-chr2:54342749..54345522,2	K562	blood:
2	chr2:54111706..54114099-chr2:54138404..54139973,2	K562	blood:
3	chr2:54138008..54141282-chr2:54142096..54146757,4	K562	blood:

Variant related genes	Relation type
ENSG00000170634	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10084355	0.80[AMR][1000 genomes]
rs10171954	0.80[EUR][1000 genomes]
rs10201364	0.86[AMR][1000 genomes]
rs10203095	0.80[EUR][1000 genomes]
rs10203576	0.81[AMR][1000 genomes]
rs1058320	0.81[CEU][hapmap]
rs11683654	0.86[CHB][hapmap]
rs12713253	0.81[AMR][1000 genomes]
rs13414393	0.82[CHD][hapmap];0.88[GIH][hapmap]
rs13417926	0.88[EUR][1000 genomes]
rs13432632	0.96[CEU][hapmap]
rs1363062	0.89[CEU][hapmap];0.80[CHB][hapmap];0.90[GIH][hapmap];0.82[TSI][hapmap];0.82[AMR][1000 genomes]
rs1363063	0.82[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes]
rs1421617	0.89[CEU][hapmap];0.93[CHB][hapmap];0.85[CHD][hapmap];0.90[GIH][hapmap];0.82[JPT][hapmap];0.82[TSI][hapmap]
rs1421622	0.81[AMR][1000 genomes]
rs17045439	0.91[JPT][hapmap]
rs2111623	1.00[CEU][hapmap];0.93[TSI][hapmap];0.80[EUR][1000 genomes]
rs2111868	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2287642	0.81[CEU][hapmap]
rs2302878	0.91[JPT][hapmap]
rs2357693	1.00[CEU][hapmap];0.93[TSI][hapmap];0.80[EUR][1000 genomes]
rs2542574	0.89[EUR][1000 genomes]
rs2542576	0.90[EUR][1000 genomes]
rs2542579	0.85[EUR][1000 genomes]
rs2542585	0.87[TSI][hapmap]
rs2542588	0.81[TSI][hapmap]
rs2692518	0.89[EUR][1000 genomes]
rs2884254	0.87[AMR][1000 genomes]
rs2909460	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3821081	0.96[CEU][hapmap];0.91[TSI][hapmap]
rs41385746	0.82[CHB][hapmap]
rs6545376	0.85[AMR][1000 genomes]
rs6545378	0.85[AMR][1000 genomes]
rs6724389	0.82[CEU][hapmap]
rs6738369	0.81[EUR][1000 genomes]
rs6749817	0.84[CEU][hapmap];0.92[CHB][hapmap]
rs698854	0.93[EUR][1000 genomes]
rs698858	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs718872	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7558126	0.80[CHB][hapmap]
rs7569214	0.89[CEU][hapmap];0.93[CHB][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap];0.82[JPT][hapmap];0.84[TSI][hapmap];0.85[AMR][1000 genomes]
rs7569370	0.89[CEU][hapmap];0.93[CHB][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap];0.82[JPT][hapmap];0.84[TSI][hapmap];0.84[AMR][1000 genomes]
rs7571086	0.82[AMR][1000 genomes]
rs805308	0.85[CEU][hapmap];0.93[CHB][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs805309	0.88[CEU][hapmap];0.92[CHB][hapmap];0.90[JPT][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs805317	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs805318	0.85[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs805320	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs805330	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs805335	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs805341	0.92[CEU][hapmap];0.93[CHB][hapmap];0.88[CHD][hapmap];0.80[GIH][hapmap];0.82[JPT][hapmap]
rs805345	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs805358	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs805359	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs805360	0.93[CHB][hapmap];0.85[CHD][hapmap];0.86[GIH][hapmap];0.82[JPT][hapmap];0.84[ASN][1000 genomes]
rs805361	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs805366	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs805367	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs805373	0.87[CHB][hapmap];0.91[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs805374	0.93[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.93[TSI][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs805375	0.92[CEU][hapmap];0.93[CHB][hapmap];0.85[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs805379	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs805380	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs805391	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs805392	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs805393	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs805402	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs805405	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs805410	0.93[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.89[TSI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs805412	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs805421	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs805422	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs805423	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs805424	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs805430	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs805433	0.92[EUR][1000 genomes]
rs805436	0.92[EUR][1000 genomes]
rs805438	1.00[CEU][hapmap];0.81[GIH][hapmap];0.90[LWK][hapmap];0.93[TSI][hapmap];0.94[EUR][1000 genomes]
rs805439	1.00[CEU][hapmap];0.81[GIH][hapmap];0.93[TSI][hapmap];0.94[EUR][1000 genomes]
rs805441	0.88[EUR][1000 genomes]
rs805444	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs805450	0.96[CEU][hapmap];0.93[CHB][hapmap];0.91[CHD][hapmap];0.90[GIH][hapmap];0.90[JPT][hapmap];0.95[TSI][hapmap];0.83[YRI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs805453	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs809280	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs918357	0.81[CEU][hapmap]
rs929734	0.81[CEU][hapmap]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs805322	ACYP2	cis	Esophagus Muscularis	GTEx
rs805322	ACYP2	cis	Muscle Skeletal	GTEx

Chromatin state (count:126 , 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	chr2:54087600-54187600	Weak transcription	Stomach Mucosa	stomach
4	chr2:54100400-54140200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr2:54100600-54141200	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr2:54108200-54177400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:54109800-54179800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:54113200-54144600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr2:54122200-54172800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr2:54124400-54159200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:54124800-54140800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:54124800-54141000	Strong transcription	Osteobl	bone
13	chr2:54126200-54167600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:54126800-54141000	Strong transcription	NHDF-Ad	bronchial
15	chr2:54127000-54156000	Weak transcription	Pancreas	Pancrea
16	chr2:54128000-54145400	Weak transcription	Ovary	ovary
17	chr2:54128800-54144600	Weak transcription	Fetal Brain Male	brain
18	chr2:54129000-54157600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:54130400-54146600	Weak transcription	Small Intestine	intestine
20	chr2:54132400-54141200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:54133000-54142200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:54133000-54142200	Weak transcription	Fetal Stomach	stomach
23	chr2:54133000-54145400	Weak transcription	Brain Germinal Matrix	brain
24	chr2:54133000-54151800	Weak transcription	Psoas Muscle	Psoas
25	chr2:54133000-54153000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr2:54133000-54157800	Weak transcription	Colonic Mucosa	Colon
27	chr2:54133200-54154800	Weak transcription	Aorta	Aorta
28	chr2:54133400-54145600	Weak transcription	Esophagus	oesophagus
29	chr2:54133400-54150800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:54133400-54151800	Weak transcription	Lung	lung
31	chr2:54133400-54154800	Weak transcription	Spleen	Spleen
32	chr2:54133600-54151800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr2:54133600-54152000	Weak transcription	Right Ventricle	heart
34	chr2:54133800-54145400	Weak transcription	Thymus	Thymus
35	chr2:54135000-54142200	Weak transcription	Fetal Muscle Leg	muscle
36	chr2:54135000-54144600	Weak transcription	Brain Substantia Nigra	brain
37	chr2:54135000-54148000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr2:54135000-54149400	Weak transcription	NHLF	lung
39	chr2:54135200-54142000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:54135200-54144600	Weak transcription	Brain Angular Gyrus	brain
41	chr2:54135200-54145200	Weak transcription	Fetal Brain Female	brain
42	chr2:54135200-54146200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr2:54135200-54147400	Weak transcription	Rectal Smooth Muscle	rectum
44	chr2:54135400-54141000	Weak transcription	Brain Anterior Caudate	brain
45	chr2:54135400-54146200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr2:54135600-54140600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr2:54135600-54140800	Weak transcription	Primary T cells from cord blood	blood
48	chr2:54135600-54140800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr2:54135600-54140800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr2:54135600-54143000	Weak transcription	Left Ventricle	heart

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