Variant report

Variant	rs718872
Chromosome Location	chr2:54173706-54173707
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54172497..54174630-chr2:54175164..54176893,2	K562	blood:
2	chr2:54161004..54163781-chr2:54171778..54174674,2	K562	blood:
3	chr2:54173684..54175896-chr2:54177409..54179300,2	K562	blood:
4	chr2:54162281..54164270-chr2:54171778..54174440,2	K562	blood:

Variant related genes	Relation type
ENSG00000068878	Chromatin interaction

Extended variants
information (count: 80 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10084355	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10201364	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10203576	0.81[AMR][1000 genomes]
rs1058320	0.84[CEU][hapmap]
rs1075265	0.89[CEU][hapmap]
rs11125519	0.82[AMR][1000 genomes]
rs11683654	0.88[CHB][hapmap]
rs11687324	0.83[AMR][1000 genomes]
rs12713253	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1363062	0.92[CEU][hapmap];0.80[CHB][hapmap];0.82[AMR][1000 genomes]
rs1363063	0.85[CEU][hapmap];0.88[CHB][hapmap];0.84[AMR][1000 genomes]
rs1421617	0.92[CEU][hapmap];0.93[CHB][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1421622	0.81[AMR][1000 genomes]
rs17045439	0.91[JPT][hapmap]
rs17268179	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2111623	1.00[CEU][hapmap]
rs2111868	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2287642	0.85[CEU][hapmap]
rs2302878	0.91[JPT][hapmap]
rs2542574	0.80[EUR][1000 genomes]
rs2542576	0.81[EUR][1000 genomes]
rs2884254	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2909460	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs41385746	0.82[CHB][hapmap]
rs4671872	0.81[CEU][hapmap]
rs6545376	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6545378	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6724389	0.93[CEU][hapmap];0.81[EUR][1000 genomes]
rs6749817	0.87[CEU][hapmap];0.93[CHB][hapmap];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs698854	0.84[EUR][1000 genomes]
rs698858	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7558126	0.82[CHB][hapmap]
rs7569214	0.92[CEU][hapmap];0.93[CHB][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7569370	0.92[CEU][hapmap];0.93[CHB][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7571086	0.86[AMR][1000 genomes]
rs805308	0.89[CEU][hapmap];0.94[CHB][hapmap];0.83[JPT][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs805309	0.92[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.82[YRI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs805317	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs805318	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs805320	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs805322	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]
rs805330	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs805335	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs805341	0.92[CEU][hapmap];0.93[CHB][hapmap];0.82[JPT][hapmap];0.82[YRI][hapmap];0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs805342	0.81[AMR][1000 genomes]
rs805343	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs805345	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs805358	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs805359	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs805360	0.93[CHB][hapmap];0.82[JPT][hapmap]
rs805361	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs805366	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs805367	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs805373	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs805374	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs805375	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs805379	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs805380	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs805391	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs805392	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs805393	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs805402	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs805405	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs805410	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs805412	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs805421	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs805422	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs805423	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs805424	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs805430	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs805433	0.83[EUR][1000 genomes]
rs805436	0.83[EUR][1000 genomes]
rs805438	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs805439	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs805444	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs805450	0.96[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs805453	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs809280	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs918357	0.84[CEU][hapmap]
rs929734	0.85[CEU][hapmap]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs718872	ACYP2	cis	Muscle Skeletal	GTEx
rs718872	ACYP2	cis	Esophagus Muscularis	GTEx

Chromatin state (count:124 , 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	chr2:54139200-54176600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:54139200-54177000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:54139400-54176200	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:54139600-54177000	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr2:54143000-54177600	Strong transcription	HepG2	liver
10	chr2:54143400-54176200	Strong transcription	HMEC	breast
11	chr2:54149800-54177000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:54151000-54189800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:54153200-54179800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr2:54153400-54194600	Weak transcription	Fetal Brain Male	brain
15	chr2:54156600-54188000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:54156600-54190000	Weak transcription	Spleen	Spleen
17	chr2:54159200-54177000	Weak transcription	Pancreas	Pancrea
18	chr2:54159200-54177200	Weak transcription	Right Ventricle	heart
19	chr2:54159200-54188000	Weak transcription	Colonic Mucosa	Colon
20	chr2:54159200-54188000	Weak transcription	Esophagus	oesophagus
21	chr2:54159200-54188200	Weak transcription	Small Intestine	intestine
22	chr2:54159200-54189400	Weak transcription	Aorta	Aorta
23	chr2:54159200-54189800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:54159400-54195800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:54160800-54173800	Weak transcription	Thymus	Thymus
26	chr2:54160800-54177200	Weak transcription	Lung	lung
27	chr2:54160800-54179400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr2:54161600-54189800	Weak transcription	Ovary	ovary
29	chr2:54163400-54174000	Weak transcription	Fetal Kidney	kidney
30	chr2:54163600-54180400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr2:54164000-54176400	Weak transcription	Fetal Brain Female	brain
32	chr2:54164200-54177000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr2:54164600-54173800	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr2:54164800-54176600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr2:54165600-54174000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr2:54167000-54176400	Weak transcription	NHEK	skin
37	chr2:54167600-54176400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr2:54169000-54177400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:54169200-54176400	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr2:54170000-54176200	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr2:54170000-54176800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:54171000-54188600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr2:54171400-54173800	Weak transcription	Fetal Stomach	stomach
44	chr2:54171600-54174400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr2:54171800-54173800	Strong transcription	K562	blood
46	chr2:54171800-54174000	Strong transcription	HUVEC	blood vessel
47	chr2:54171800-54176200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr2:54172000-54176200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:54172000-54176200	Strong transcription	NH-A	brain
50	chr2:54172400-54174000	Weak transcription	Brain Substantia Nigra	brain

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