Variant report

Variant	rs805419
Chromosome Location	chr2:54126068-54126069
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54124785..54127189-chr2:54130263..54133083,2	K562	blood:
2	chr2:54118509..54120933-chr2:54123957..54126075,2	K562	blood:
3	chr2:54125741..54127654-chr2:54133345..54135460,2	MCF-7	breast:

Extended variants
information (count: 74 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs11898855	0.81[AMR][1000 genomes]
rs2302879	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28851028	0.82[AMR][1000 genomes]
rs2909459	0.90[AMR][1000 genomes]
rs2949810	0.81[AMR][1000 genomes]
rs4671746	0.87[AMR][1000 genomes]
rs55692047	0.87[AMR][1000 genomes]
rs56302494	0.87[AMR][1000 genomes]
rs62139336	0.89[AMR][1000 genomes]
rs6545381	0.82[AMR][1000 genomes]
rs6714450	0.81[AMR][1000 genomes]
rs698855	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs698857	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs805310	0.80[AMR][1000 genomes]
rs805311	0.81[AMR][1000 genomes]
rs805312	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs805313	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs805314	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs805315	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs805316	0.82[AMR][1000 genomes]
rs805319	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs805321	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs805323	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs805325	0.81[AMR][1000 genomes]
rs805326	0.81[AMR][1000 genomes]
rs805327	0.81[AMR][1000 genomes]
rs805328	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs805329	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs805344	0.80[AMR][1000 genomes]
rs805346	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs805347	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs805348	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs805349	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs805351	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs805352	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs805354	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs805355	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs805356	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs805357	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs805362	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs805363	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs805365	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs805376	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs805377	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs805378	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs805382	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs805384	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs805385	0.82[AMR][1000 genomes]
rs805386	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs805387	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs805388	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs805390	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs805394	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs805397	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs805398	0.83[AMR][1000 genomes]
rs805399	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs805400	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs805401	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs805404	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs805406	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs805407	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs805408	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs805409	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs805411	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs805413	0.83[AMR][1000 genomes]
rs805414	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs805415	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs805416	0.96[ASN][1000 genomes]
rs805420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs805425	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs805426	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs805428	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs805429	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs809282	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs805419	PSME4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 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	chr2:54094000-54137800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:54099200-54137400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:54100400-54137800	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr2:54100400-54137800	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr2:54100400-54140200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr2:54100600-54137400	Strong transcription	Placenta	Placenta
23	chr2:54100600-54137800	Strong transcription	Primary B cells from cord blood	blood
24	chr2:54100600-54141200	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr2:54100800-54138000	Strong transcription	Fetal Muscle Trunk	muscle
26	chr2:54103800-54129200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr2:54104600-54135600	Strong transcription	Primary T cells from cord blood	blood
28	chr2:54105800-54137200	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr2:54106000-54138000	Strong transcription	Dnd41	blood
30	chr2:54106200-54138400	Strong transcription	Adipose Nuclei	Adipose
31	chr2:54106600-54137800	Strong transcription	Duodenum Mucosa	Duodenum
32	chr2:54108200-54137400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:54108200-54177400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:54108400-54135600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr2:54108400-54137400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr2:54108600-54135800	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr2:54108600-54137800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr2:54108800-54137400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr2:54109400-54134400	Strong transcription	Stomach Smooth Muscle	stomach
40	chr2:54109400-54137200	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr2:54109400-54137400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr2:54109400-54137400	Strong transcription	Fetal Lung	lung
43	chr2:54109400-54137600	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr2:54109400-54137800	Strong transcription	NH-A	brain
45	chr2:54109800-54179800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr2:54110800-54132200	Weak transcription	Esophagus	oesophagus
47	chr2:54111200-54137600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr2:54112600-54136000	Strong transcription	Primary T helper cells PMA-I stimulated	--
49	chr2:54113000-54133400	Weak transcription	Fetal Heart	heart
50	chr2:54113200-54144600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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