Variant report

Variant	rs805407
Chromosome Location	chr2:54119057-54119058
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:54118931-54119115	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:54117795..54119637-chr2:54122052..54124285,2	K562	blood:
2	chr2:54118509..54120933-chr2:54123957..54126075,2	K562	blood:

Variant related genes	Relation type
PSME4	TF binding region

Extended variants
information (count: 83 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs11683741	0.80[AMR][1000 genomes]
rs11689025	0.80[AMR][1000 genomes]
rs11898855	0.82[AMR][1000 genomes]
rs2302879	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28851028	0.84[AMR][1000 genomes]
rs2909459	0.91[AMR][1000 genomes]
rs2949810	0.82[AMR][1000 genomes]
rs4671746	0.89[AMR][1000 genomes]
rs55692047	0.89[AMR][1000 genomes]
rs56302494	0.89[AMR][1000 genomes]
rs62139336	0.90[AMR][1000 genomes]
rs6545377	0.80[AMR][1000 genomes]
rs6545381	0.83[AMR][1000 genomes]
rs6714450	0.82[AMR][1000 genomes]
rs698855	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs698857	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7559384	0.81[AMR][1000 genomes]
rs805310	0.81[AMR][1000 genomes]
rs805311	0.82[AMR][1000 genomes]
rs805312	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs805313	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs805314	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs805315	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs805316	0.80[AMR][1000 genomes]
rs805319	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs805321	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs805323	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs805325	0.82[AMR][1000 genomes]
rs805326	0.82[AMR][1000 genomes]
rs805327	0.82[AMR][1000 genomes]
rs805328	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs805329	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs805337	0.80[AMR][1000 genomes]
rs805338	0.80[AMR][1000 genomes]
rs805344	0.81[AMR][1000 genomes]
rs805346	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs805347	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs805348	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs805349	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs805351	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs805352	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs805354	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs805355	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs805356	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs805357	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs805362	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs805363	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs805365	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs805376	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs805377	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs805378	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs805382	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs805383	0.80[AMR][1000 genomes]
rs805384	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs805385	0.83[AMR][1000 genomes]
rs805386	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs805387	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs805388	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs805390	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs805394	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs805397	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs805398	0.85[AMR][1000 genomes]
rs805399	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs805400	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs805401	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs805404	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs805406	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs805408	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs805409	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs805411	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs805413	0.85[AMR][1000 genomes]
rs805414	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs805415	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs805416	0.95[ASN][1000 genomes]
rs805419	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs805420	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs805425	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs805426	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs805428	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs805429	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs805449	0.80[AMR][1000 genomes]
rs805451	0.80[AMR][1000 genomes]
rs809282	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs805407	PSME4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54087000-54168000	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr2:54087200-54176000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:54087400-54137600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:54087600-54187600	Weak transcription	Stomach Mucosa	stomach
5	chr2:54088400-54137200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:54088600-54138000	Strong transcription	Primary B cells from peripheral blood	blood
7	chr2:54089800-54136000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr2:54090200-54137800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:54090200-54138200	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:54090400-54137600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:54090800-54137400	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr2:54091000-54137000	Strong transcription	Fetal Thymus	thymus
13	chr2:54091000-54137800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr2:54091000-54138000	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr2:54091200-54138000	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr2:54091400-54137600	Strong transcription	Liver	Liver
17	chr2:54093800-54124000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:54094000-54137800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:54099200-54137400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:54100400-54137800	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr2:54100400-54137800	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr2:54100400-54140200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr2:54100600-54123000	Strong transcription	Primary hematopoietic stem cells	blood
24	chr2:54100600-54137400	Strong transcription	Placenta	Placenta
25	chr2:54100600-54137800	Strong transcription	Primary B cells from cord blood	blood
26	chr2:54100600-54141200	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr2:54100800-54138000	Strong transcription	Fetal Muscle Trunk	muscle
28	chr2:54102000-54124400	Weak transcription	Small Intestine	intestine
29	chr2:54103800-54129200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr2:54104600-54135600	Strong transcription	Primary T cells from cord blood	blood
31	chr2:54105800-54120400	Strong transcription	Fetal Intestine Large	intestine
32	chr2:54105800-54137200	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr2:54106000-54120400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:54106000-54138000	Strong transcription	Dnd41	blood
35	chr2:54106200-54138400	Strong transcription	Adipose Nuclei	Adipose
36	chr2:54106600-54137800	Strong transcription	Duodenum Mucosa	Duodenum
37	chr2:54107000-54123800	Strong transcription	HMEC	breast
38	chr2:54107200-54123000	Strong transcription	K562	blood
39	chr2:54107200-54123200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:54107200-54124200	Strong transcription	HepG2	liver
41	chr2:54108200-54120400	Strong transcription	Fetal Muscle Leg	muscle
42	chr2:54108200-54137400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr2:54108200-54177400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:54108400-54135600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr2:54108400-54137400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr2:54108600-54119600	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr2:54108600-54135800	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr2:54108600-54137800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr2:54108800-54124000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:54108800-54137400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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