Variant report

Variant	rs805343
Chromosome Location	chr2:54193193-54193194
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:54184275..54188127-chr2:54193177..54197889,6	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10084355	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10201364	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12713253	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1421617	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17268179	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2111868	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2884254	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2909460	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6545376	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6545378	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6724389	0.80[EUR][1000 genomes]
rs6749817	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs698858	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs718872	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7569214	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7569370	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs805308	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs805309	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs805335	0.87[ASN][1000 genomes]
rs805341	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs805342	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs805345	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs805359	0.82[AMR][1000 genomes]
rs805366	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs805367	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs805450	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs805453	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs805343	ACYP2	cis	Muscle Skeletal	GTEx

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54153400-54194600	Weak transcription	Fetal Brain Male	brain
2	chr2:54159400-54195800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:54174200-54195600	Weak transcription	Thymus	Thymus
4	chr2:54175200-54195400	Weak transcription	Fetal Stomach	stomach
5	chr2:54176200-54194200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:54176200-54194600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr2:54176200-54195400	Weak transcription	Fetal Intestine Large	intestine
8	chr2:54176200-54195400	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr2:54176200-54196000	Weak transcription	Fetal Thymus	thymus
10	chr2:54176200-54196200	Weak transcription	Placenta	Placenta
11	chr2:54176400-54194800	Weak transcription	NHLF	lung
12	chr2:54176400-54195000	Weak transcription	HSMM	muscle
13	chr2:54177000-54194800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:54177400-54194400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:54177800-54195400	Weak transcription	Right Ventricle	heart
16	chr2:54180000-54195400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr2:54188400-54195400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:54188600-54195200	Weak transcription	Fetal Muscle Leg	muscle
19	chr2:54188800-54195800	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr2:54189000-54194000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr2:54189000-54195400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:54189200-54194200	Enhancers	HepG2	liver
23	chr2:54189400-54195400	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr2:54189600-54195600	Weak transcription	Fetal Kidney	kidney
25	chr2:54189800-54196400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr2:54190000-54196400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr2:54190200-54195000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:54190400-54193200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr2:54190400-54194800	Weak transcription	Ovary	ovary
30	chr2:54190400-54195600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr2:54190400-54195600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr2:54190400-54197000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr2:54190600-54194600	Weak transcription	Small Intestine	intestine
34	chr2:54190600-54195400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:54190600-54195400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr2:54190600-54195800	Weak transcription	Colonic Mucosa	Colon
37	chr2:54190600-54196400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr2:54190600-54197000	Weak transcription	Esophagus	oesophagus
39	chr2:54190800-54194000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr2:54190800-54194200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr2:54190800-54194800	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr2:54190800-54194800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr2:54190800-54195400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr2:54191400-54193800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr2:54191600-54193400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:54191800-54193200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr2:54191800-54193400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr2:54191800-54195200	Enhancers	Psoas Muscle	Psoas
49	chr2:54191800-54195800	Enhancers	Primary B cells from peripheral blood	blood
50	chr2:54192000-54194200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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