Variant report

Variant	rs2112121
Chromosome Location	chr2:54244011-54244012
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10084374	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10181999	0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10186566	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11893270	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2112122	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6545380	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6711105	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6711217	0.84[AMR][1000 genomes]
rs6715488	0.84[AMR][1000 genomes]
rs6743455	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6746965	0.80[ASN][1000 genomes]
rs9631059	0.88[AMR][1000 genomes];0.82[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2112121	PSME4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:52 , 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	chr2:54242600-54244400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:54242600-54244400	Enhancers	NHDF-Ad	bronchial
21	chr2:54242800-54244400	Enhancers	Ovary	ovary
22	chr2:54242800-54247200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr2:54242800-54247200	Weak transcription	Fetal Intestine Small	intestine
24	chr2:54243000-54244400	Enhancers	Rectal Smooth Muscle	rectum
25	chr2:54243200-54247800	Weak transcription	Placenta	Placenta
26	chr2:54243400-54247200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr2:54243400-54247200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:54243400-54247400	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr2:54243400-54248200	Weak transcription	Pancreas	Pancrea
30	chr2:54243400-54254200	Weak transcription	Fetal Stomach	stomach
31	chr2:54243600-54246200	Weak transcription	Brain Angular Gyrus	brain
32	chr2:54243600-54247000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:54243600-54247600	Weak transcription	Fetal Muscle Leg	muscle
34	chr2:54243800-54244200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:54243800-54244400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:54243800-54244800	Weak transcription	Primary T cells from cord blood	blood
37	chr2:54243800-54246000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr2:54243800-54247200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr2:54243800-54247200	Weak transcription	Liver	Liver
40	chr2:54243800-54247600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr2:54243800-54247600	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr2:54243800-54247600	Weak transcription	Stomach Smooth Muscle	stomach
43	chr2:54243800-54248200	Weak transcription	Fetal Lung	lung
44	chr2:54243800-54248400	Weak transcription	Brain Substantia Nigra	brain
45	chr2:54243800-54249200	Weak transcription	HSMMtube	muscle
46	chr2:54243800-54255400	Weak transcription	HepG2	liver
47	chr2:54243800-54268000	Weak transcription	Osteobl	bone
48	chr2:54243800-54268400	Weak transcription	Brain Cingulate Gyrus	brain
49	chr2:54243800-54269800	Weak transcription	Brain Anterior Caudate	brain
50	chr2:54244000-54246200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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