Variant report

Variant	rs805453
Chromosome Location	chr2:54182898-54182899
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54173721..54175939-chr2:54181510..54183998,2	K562	blood:
2	chr2:54182588..54184122-chr2:54186046..54188371,2	K562	blood:
3	chr2:54182457..54184088-chr2:54186871..54190215,3	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10084355	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10201364	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10203576	0.85[AMR][1000 genomes]
rs1058320	0.85[CEU][hapmap]
rs1075265	0.86[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];0.83[EUR][1000 genomes]
rs1363062	0.92[CEU][hapmap];0.80[CHB][hapmap];0.86[AMR][1000 genomes]
rs1363063	0.86[CEU][hapmap];0.88[CHB][hapmap];0.84[AMR][1000 genomes]
rs1421617	0.92[CEU][hapmap];0.93[CHB][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1421622	0.85[AMR][1000 genomes]
rs17045439	0.86[JPT][hapmap]
rs17268179	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2111623	0.96[CEU][hapmap]
rs2111868	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2287642	0.86[CEU][hapmap]
rs2302878	0.86[JPT][hapmap]
rs2542576	0.80[EUR][1000 genomes]
rs2884254	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2909460	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs41385746	0.82[CHB][hapmap]
rs6545376	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6545378	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6724389	0.86[CEU][hapmap];0.82[EUR][1000 genomes]
rs6749817	0.88[CEU][hapmap];0.93[CHB][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs698854	0.83[EUR][1000 genomes]
rs698858	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs718872	0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];0.89[AFR][1000 genomes];0.96[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];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7569370	0.92[CEU][hapmap];0.93[CHB][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7571086	0.90[AMR][1000 genomes]
rs7609017	0.80[EUR][1000 genomes]
rs805308	0.89[CEU][hapmap];0.94[CHB][hapmap];0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs805309	0.92[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs805317	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs805318	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs805320	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs805322	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs805330	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs805335	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs805341	0.96[CEU][hapmap];0.93[CHB][hapmap];0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs805342	0.81[ASN][1000 genomes]
rs805343	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs805345	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs805358	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs805359	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs805360	0.93[CHB][hapmap];0.87[JPT][hapmap]
rs805361	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs805366	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs805367	0.96[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs805373	0.87[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap]
rs805374	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs805375	0.89[CEU][hapmap];0.93[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs805379	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs805380	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs805391	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs805392	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs805393	0.85[AMR][1000 genomes]
rs805402	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs805405	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs805410	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs805412	1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs805421	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs805422	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs805423	0.93[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs805424	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs805430	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs805433	0.82[EUR][1000 genomes]
rs805436	0.82[EUR][1000 genomes]
rs805438	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs805439	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs805444	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs805450	1.00[CEU][hapmap];0.93[CHB][hapmap];0.86[JPT][hapmap];0.92[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs809280	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs918357	0.85[CEU][hapmap]
rs929734	0.86[CEU][hapmap]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs805453	ACYP2	cis	Muscle Skeletal	GTEx
rs805453	ACYP2	cis	Esophagus Muscularis	GTEx

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54087600-54187600	Weak transcription	Stomach Mucosa	stomach
2	chr2:54151000-54189800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:54153400-54194600	Weak transcription	Fetal Brain Male	brain
4	chr2:54156600-54188000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:54156600-54190000	Weak transcription	Spleen	Spleen
6	chr2:54159200-54188000	Weak transcription	Colonic Mucosa	Colon
7	chr2:54159200-54188000	Weak transcription	Esophagus	oesophagus
8	chr2:54159200-54188200	Weak transcription	Small Intestine	intestine
9	chr2:54159200-54189400	Weak transcription	Aorta	Aorta
10	chr2:54159200-54189800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:54159400-54195800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:54161600-54189800	Weak transcription	Ovary	ovary
13	chr2:54171000-54188600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:54172800-54184400	Weak transcription	Brain Anterior Caudate	brain
15	chr2:54172800-54184600	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr2:54173400-54191400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr2:54174000-54184600	Weak transcription	Left Ventricle	heart
18	chr2:54174200-54195600	Weak transcription	Thymus	Thymus
19	chr2:54174400-54184200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:54174400-54184600	Weak transcription	Colon Smooth Muscle	Colon
21	chr2:54174400-54188000	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr2:54174400-54188600	Weak transcription	GM12878-XiMat	blood
23	chr2:54175200-54193000	Weak transcription	Fetal Intestine Small	intestine
24	chr2:54175200-54195400	Weak transcription	Fetal Stomach	stomach
25	chr2:54175400-54188400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr2:54175600-54184200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr2:54175800-54184400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:54175800-54189800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr2:54175800-54190000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr2:54176000-54184600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr2:54176000-54187800	Weak transcription	Fetal Muscle Leg	muscle
32	chr2:54176000-54189800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr2:54176200-54184000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr2:54176200-54184600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr2:54176200-54184600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr2:54176200-54188400	Weak transcription	Primary hematopoietic stem cells	blood
37	chr2:54176200-54188400	Weak transcription	HMEC	breast
38	chr2:54176200-54188600	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr2:54176200-54189800	Weak transcription	Fetal Muscle Trunk	muscle
40	chr2:54176200-54189800	Weak transcription	NH-A	brain
41	chr2:54176200-54191600	Weak transcription	NHDF-Ad	bronchial
42	chr2:54176200-54192000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr2:54176200-54194200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:54176200-54194600	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr2:54176200-54195400	Weak transcription	Fetal Intestine Large	intestine
46	chr2:54176200-54195400	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr2:54176200-54196000	Weak transcription	Fetal Thymus	thymus
48	chr2:54176200-54196200	Weak transcription	Placenta	Placenta
49	chr2:54176400-54187800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr2:54176400-54188200	Weak transcription	Primary T cells from cord blood	blood

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