Variant report

Variant	rs2112122
Chromosome Location	chr2:54243918-54243919
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10084355	0.82[EUR][1000 genomes]
rs10084374	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10167891	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10168293	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10181999	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10183655	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10186566	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11674724	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11676462	0.83[ASN][1000 genomes]
rs11683741	0.80[ASN][1000 genomes]
rs11689025	0.83[ASN][1000 genomes]
rs11694711	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11884699	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11890838	0.87[ASN][1000 genomes]
rs11893270	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11896815	0.81[ASN][1000 genomes]
rs11898855	0.90[ASN][1000 genomes]
rs12713253	0.81[EUR][1000 genomes]
rs13394278	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1421617	0.81[EUR][1000 genomes]
rs1477258	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17045452	0.83[ASN][1000 genomes]
rs17045474	0.87[ASN][1000 genomes]
rs17045488	0.83[ASN][1000 genomes]
rs17268179	0.81[EUR][1000 genomes]
rs2112121	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2357896	0.82[ASN][1000 genomes]
rs28653587	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28851028	0.86[ASN][1000 genomes]
rs2909459	0.81[ASN][1000 genomes]
rs3731967	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4671742	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4671746	0.90[ASN][1000 genomes]
rs4671747	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55649409	0.81[ASN][1000 genomes]
rs55692047	0.90[ASN][1000 genomes]
rs56302494	0.89[ASN][1000 genomes]
rs62139336	0.83[ASN][1000 genomes]
rs6545377	0.87[ASN][1000 genomes]
rs6545380	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6545381	0.89[ASN][1000 genomes]
rs66773232	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6711105	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6711217	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6714450	0.90[ASN][1000 genomes]
rs6715488	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6742042	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6743455	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6746965	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6748976	0.91[ASN][1000 genomes]
rs6748997	0.87[ASN][1000 genomes]
rs6749817	0.82[EUR][1000 genomes]
rs72799298	0.80[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72904908	0.91[ASN][1000 genomes]
rs7559384	0.89[ASN][1000 genomes]
rs7559947	0.83[ASN][1000 genomes]
rs7564912	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7569214	0.80[EUR][1000 genomes]
rs7569370	0.80[EUR][1000 genomes]
rs7591431	0.90[ASN][1000 genomes]
rs7597188	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7597189	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs805310	0.81[ASN][1000 genomes]
rs805344	0.81[ASN][1000 genomes]
rs9631059	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001246	chr2:54195654-54434832	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	nsv1003205	chr2:54220049-54700843	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv2762639	chr2:54220049-54700855	Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1011790	chr2:54220049-54714553	Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1002891	chr2:54227005-54682169	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv535722	chr2:54227005-54682169	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2112122	ACYP2	cis	Muscle Skeletal	GTEx
rs2112122	PSME4	Cis_1M	lymphoblastoid	RTeQTL
rs2112122	ACYP2	cis	Esophagus Muscularis	GTEx

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54208400-54248200	Weak transcription	Lung	lung
2	chr2:54213600-54249800	Weak transcription	Left Ventricle	heart
3	chr2:54217000-54248200	Weak transcription	Gastric	stomach
4	chr2:54229200-54245800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr2:54235400-54246400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:54238200-54246800	Weak transcription	Spleen	Spleen
7	chr2:54240000-54248200	Weak transcription	Psoas Muscle	Psoas
8	chr2:54240200-54248000	Weak transcription	Adipose Nuclei	Adipose
9	chr2:54240200-54257000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr2:54240600-54248200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:54241400-54245600	Weak transcription	Fetal Muscle Trunk	muscle
12	chr2:54241400-54247400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr2:54241400-54248200	Weak transcription	Thymus	Thymus
14	chr2:54241800-54247600	Weak transcription	Primary B cells from cord blood	blood
15	chr2:54242000-54244400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr2:54242200-54247600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr2:54242200-54251800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr2:54242400-54247800	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr2:54242600-54244000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:54242600-54244400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:54242600-54244400	Enhancers	NHDF-Ad	bronchial
22	chr2:54242800-54244000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr2:54242800-54244000	Enhancers	Muscle Satellite Cultured Cells	--
24	chr2:54242800-54244400	Enhancers	Ovary	ovary
25	chr2:54242800-54247200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:54242800-54247200	Weak transcription	Fetal Intestine Small	intestine
27	chr2:54243000-54244000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr2:54243000-54244400	Enhancers	Rectal Smooth Muscle	rectum
29	chr2:54243200-54247800	Weak transcription	Placenta	Placenta
30	chr2:54243400-54247200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr2:54243400-54247200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:54243400-54247400	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr2:54243400-54248200	Weak transcription	Pancreas	Pancrea
34	chr2:54243400-54254200	Weak transcription	Fetal Stomach	stomach
35	chr2:54243600-54246200	Weak transcription	Brain Angular Gyrus	brain
36	chr2:54243600-54247000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr2:54243600-54247600	Weak transcription	Fetal Muscle Leg	muscle
38	chr2:54243800-54244200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:54243800-54244400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:54243800-54244800	Weak transcription	Primary T cells from cord blood	blood
41	chr2:54243800-54246000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr2:54243800-54247200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:54243800-54247200	Weak transcription	Liver	Liver
44	chr2:54243800-54247600	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr2:54243800-54247600	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr2:54243800-54247600	Weak transcription	Stomach Smooth Muscle	stomach
47	chr2:54243800-54248200	Weak transcription	Fetal Lung	lung
48	chr2:54243800-54248400	Weak transcription	Brain Substantia Nigra	brain
49	chr2:54243800-54249200	Weak transcription	HSMMtube	muscle
50	chr2:54243800-54255400	Weak transcription	HepG2	liver

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