Variant report

Variant	rs805321
Chromosome Location	chr2:54139017-54139018
allele	C/T
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	MAFK	chr2:54138991-54139261	IMR90	lung:	n/a	chr2:54139117-54139128 chr2:54139117-54139132 chr2:54139118-54139129 chr2:54139117-54139128 chr2:54139117-54139133 chr2:54139116-54139130
2	MAFK	chr2:54138952-54139295	HepG2	liver:	n/a	chr2:54139117-54139128 chr2:54139117-54139132 chr2:54139118-54139129 chr2:54139117-54139128 chr2:54139117-54139133 chr2:54139116-54139130
3	MAFF	chr2:54138969-54139278	HepG2	liver:	n/a	n/a
4	MAFK	chr2:54138978-54139245	HepG2	liver:	n/a	chr2:54139117-54139128 chr2:54139117-54139132 chr2:54139118-54139129 chr2:54139117-54139128 chr2:54139117-54139133 chr2:54139116-54139130
5	MAFF	chr2:54139003-54139264	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:72115529..72117582-chr2:54136629..54139608,2	MCF-7	breast:
2	chr2:54111706..54114099-chr2:54138404..54139973,2	K562	blood:
3	chr2:54138008..54141282-chr2:54142096..54146757,4	K562	blood:

Variant related genes	Relation type
PSME4	TF binding region

Extended variants
information (count: 99 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs10183655	0.87[CHB][hapmap]
rs11683741	0.81[AMR][1000 genomes]
rs11689025	0.81[AMR][1000 genomes]
rs11890838	0.91[CHB][hapmap]
rs11898855	0.81[AMR][1000 genomes]
rs1232	0.87[CEU][hapmap]
rs17039547	0.89[JPT][hapmap]
rs17045199	0.95[CHB][hapmap];0.84[JPT][hapmap]
rs17045452	0.91[CHB][hapmap]
rs17045474	0.87[CHB][hapmap];0.89[JPT][hapmap]
rs17045488	0.88[CHB][hapmap]
rs2253760	0.91[CHB][hapmap]
rs2287643	0.83[CHB][hapmap];0.89[JPT][hapmap]
rs2302879	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2542571	0.91[CHB][hapmap]
rs2542575	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs2692514	0.86[CHB][hapmap]
rs2692516	0.95[CHB][hapmap];0.89[JPT][hapmap]
rs2692534	0.80[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap]
rs28851028	0.82[AMR][1000 genomes]
rs2909459	0.81[CEU][hapmap];0.91[CHB][hapmap];0.90[AMR][1000 genomes]
rs2949810	0.81[AMR][1000 genomes]
rs34498089	0.83[JPT][hapmap]
rs3731967	0.87[CHB][hapmap]
rs4671746	0.90[AMR][1000 genomes]
rs55692047	0.87[AMR][1000 genomes]
rs56302494	0.90[AMR][1000 genomes]
rs62139336	0.89[AMR][1000 genomes]
rs6545377	0.81[AMR][1000 genomes]
rs6545381	0.82[AMR][1000 genomes]
rs6714450	0.81[AMR][1000 genomes]
rs6746965	0.84[CHB][hapmap]
rs698855	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[YRI][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs698857	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7559384	0.82[AMR][1000 genomes]
rs766075	0.87[CHB][hapmap]
rs805310	0.92[CHB][hapmap];0.83[AMR][1000 genomes]
rs805312	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs805313	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs805314	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs805315	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs805316	0.91[CEU][hapmap];0.82[AMR][1000 genomes]
rs805319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs805323	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs805325	0.81[AMR][1000 genomes]
rs805326	0.81[AMR][1000 genomes]
rs805327	0.81[AMR][1000 genomes]
rs805328	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs805329	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs805338	0.83[CEU][hapmap]
rs805344	0.83[AMR][1000 genomes]
rs805346	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs805347	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs805348	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs805349	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs805351	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.94[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs805352	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs805354	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs805355	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs805356	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs805357	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs805362	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs805363	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs805365	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs805376	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs805377	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs805378	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs805382	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs805384	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs805386	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs805387	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs805388	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs805390	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs805394	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs805397	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs805398	0.81[AMR][1000 genomes]
rs805399	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs805400	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs805401	0.95[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs805404	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs805406	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs805407	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs805408	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs805409	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs805411	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs805413	0.81[AMR][1000 genomes]
rs805414	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs805415	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs805416	0.92[ASN][1000 genomes]
rs805419	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs805420	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs805425	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs805426	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs805428	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs805429	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs805446	0.83[CEU][hapmap]
rs805447	0.83[CEU][hapmap];0.81[AMR][1000 genomes]
rs805449	0.83[CEU][hapmap]
rs809282	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs805321	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	chr2:54087600-54187600	Weak transcription	Stomach Mucosa	stomach
4	chr2:54100400-54140200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr2:54100600-54141200	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr2:54108200-54177400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:54109800-54179800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:54113200-54144600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr2:54122200-54172800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr2:54124400-54159200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:54124800-54140800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:54124800-54141000	Strong transcription	Osteobl	bone
13	chr2:54126200-54167600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:54126800-54141000	Strong transcription	NHDF-Ad	bronchial
15	chr2:54127000-54156000	Weak transcription	Pancreas	Pancrea
16	chr2:54128000-54145400	Weak transcription	Ovary	ovary
17	chr2:54128800-54144600	Weak transcription	Fetal Brain Male	brain
18	chr2:54129000-54157600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:54130400-54146600	Weak transcription	Small Intestine	intestine
20	chr2:54132400-54141200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:54133000-54139200	Weak transcription	Gastric	stomach
22	chr2:54133000-54139600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:54133000-54142200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:54133000-54142200	Weak transcription	Fetal Stomach	stomach
25	chr2:54133000-54145400	Weak transcription	Brain Germinal Matrix	brain
26	chr2:54133000-54151800	Weak transcription	Psoas Muscle	Psoas
27	chr2:54133000-54153000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr2:54133000-54157800	Weak transcription	Colonic Mucosa	Colon
29	chr2:54133200-54154800	Weak transcription	Aorta	Aorta
30	chr2:54133400-54145600	Weak transcription	Esophagus	oesophagus
31	chr2:54133400-54150800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:54133400-54151800	Weak transcription	Lung	lung
33	chr2:54133400-54154800	Weak transcription	Spleen	Spleen
34	chr2:54133600-54151800	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr2:54133600-54152000	Weak transcription	Right Ventricle	heart
36	chr2:54133800-54145400	Weak transcription	Thymus	Thymus
37	chr2:54135000-54139200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:54135000-54142200	Weak transcription	Fetal Muscle Leg	muscle
39	chr2:54135000-54144600	Weak transcription	Brain Substantia Nigra	brain
40	chr2:54135000-54148000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr2:54135000-54149400	Weak transcription	NHLF	lung
42	chr2:54135200-54139800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr2:54135200-54142000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr2:54135200-54144600	Weak transcription	Brain Angular Gyrus	brain
45	chr2:54135200-54145200	Weak transcription	Fetal Brain Female	brain
46	chr2:54135200-54146200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr2:54135200-54147400	Weak transcription	Rectal Smooth Muscle	rectum
48	chr2:54135400-54141000	Weak transcription	Brain Anterior Caudate	brain
49	chr2:54135400-54146200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr2:54135600-54140600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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