Variant report

Variant	rs805323
Chromosome Location	chr2:54142679-54142680
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:54131170..54133387-chr2:54141536..54143607,2	K562	blood:
2	chr2:54138008..54141282-chr2:54142096..54146757,4	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs11683741	0.81[AMR][1000 genomes]
rs11689025	0.81[AMR][1000 genomes]
rs11898855	0.81[AMR][1000 genomes]
rs2302879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28851028	0.82[AMR][1000 genomes]
rs2909459	0.90[AMR][1000 genomes]
rs2949810	0.84[AMR][1000 genomes]
rs2949815	0.82[AMR][1000 genomes]
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]
rs698855	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs698857	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7559384	0.82[AMR][1000 genomes]
rs805310	0.83[AMR][1000 genomes]
rs805312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs805313	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs805314	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs805315	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs805319	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs805321	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs805325	0.84[AMR][1000 genomes]
rs805326	0.84[AMR][1000 genomes]
rs805327	0.84[AMR][1000 genomes]
rs805328	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs805329	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs805344	0.83[AMR][1000 genomes]
rs805346	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs805347	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs805348	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs805349	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs805351	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs805352	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs805354	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs805355	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs805356	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs805357	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs805362	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs805363	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs805365	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][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];0.95[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	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs805386	0.89[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	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs805390	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs805394	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs805397	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs805398	0.81[AMR][1000 genomes]
rs805399	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs805400	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs805401	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs805404	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs805406	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs805407	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs805408	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs805409	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs805411	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs805413	0.81[AMR][1000 genomes]
rs805414	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs805415	0.96[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	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs805420	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs805425	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs805426	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs805428	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs805429	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs805447	0.81[AMR][1000 genomes]
rs809281	0.81[AMR][1000 genomes]
rs809282	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs805323	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	chr2:54108200-54177400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:54109800-54179800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:54113200-54144600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:54122200-54172800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr2:54124400-54159200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:54126200-54167600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:54127000-54156000	Weak transcription	Pancreas	Pancrea
11	chr2:54128000-54145400	Weak transcription	Ovary	ovary
12	chr2:54128800-54144600	Weak transcription	Fetal Brain Male	brain
13	chr2:54129000-54157600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:54130400-54146600	Weak transcription	Small Intestine	intestine
15	chr2:54133000-54145400	Weak transcription	Brain Germinal Matrix	brain
16	chr2:54133000-54151800	Weak transcription	Psoas Muscle	Psoas
17	chr2:54133000-54153000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:54133000-54157800	Weak transcription	Colonic Mucosa	Colon
19	chr2:54133200-54154800	Weak transcription	Aorta	Aorta
20	chr2:54133400-54145600	Weak transcription	Esophagus	oesophagus
21	chr2:54133400-54150800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:54133400-54151800	Weak transcription	Lung	lung
23	chr2:54133400-54154800	Weak transcription	Spleen	Spleen
24	chr2:54133600-54151800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr2:54133600-54152000	Weak transcription	Right Ventricle	heart
26	chr2:54133800-54145400	Weak transcription	Thymus	Thymus
27	chr2:54135000-54144600	Weak transcription	Brain Substantia Nigra	brain
28	chr2:54135000-54148000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr2:54135000-54149400	Weak transcription	NHLF	lung
30	chr2:54135200-54144600	Weak transcription	Brain Angular Gyrus	brain
31	chr2:54135200-54145200	Weak transcription	Fetal Brain Female	brain
32	chr2:54135200-54146200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr2:54135200-54147400	Weak transcription	Rectal Smooth Muscle	rectum
34	chr2:54135400-54146200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr2:54135600-54143000	Weak transcription	Left Ventricle	heart
36	chr2:54135600-54143200	Weak transcription	Fetal Kidney	kidney
37	chr2:54135600-54144600	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr2:54135600-54145000	Weak transcription	Colon Smooth Muscle	Colon
39	chr2:54135600-54145200	Weak transcription	Brain Hippocampus Middle	brain
40	chr2:54135600-54145600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr2:54135600-54146600	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr2:54135600-54172200	Weak transcription	Fetal Heart	heart
43	chr2:54136000-54144600	Weak transcription	K562	blood
44	chr2:54137200-54144400	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr2:54137200-54144600	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr2:54137200-54146600	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr2:54137400-54143400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr2:54137400-54144600	Weak transcription	Stomach Smooth Muscle	stomach
49	chr2:54137400-54145000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr2:54137400-54145000	Weak transcription	Skeletal Muscle Male	skeletal muscle

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