Variant report

Variant	rs809281
Chromosome Location	chr2:54167809-54167810
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:54166145..54169657-chr2:54176630..54180316,3	K562	blood:
2	chr2:54162305..54164219-chr2:54165921..54167840,2	MCF-7	breast:
3	chr2:54154156..54156922-chr2:54167334..54168957,2	MCF-7	breast:
4	chr2:54160236..54161748-chr2:54167690..54170586,2	K562	blood:
5	chr2:54166205..54169657-chr2:54178051..54180434,3	K562	blood:

Variant related genes	Relation type
ENSG00000068878	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1232	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2302879	0.81[AMR][1000 genomes]
rs2909459	0.82[AMR][1000 genomes]
rs2949810	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2949814	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62139336	0.80[AMR][1000 genomes]
rs805311	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs805312	0.81[AMR][1000 genomes]
rs805313	0.81[AMR][1000 genomes]
rs805316	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs805323	0.81[AMR][1000 genomes]
rs805325	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs805326	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs805327	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs805328	0.81[AMR][1000 genomes]
rs805334	0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs805337	0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs805338	0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs805340	0.97[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs805346	0.81[AMR][1000 genomes]
rs805347	0.81[AMR][1000 genomes]
rs805351	0.82[AMR][1000 genomes]
rs805352	0.82[AMR][1000 genomes]
rs805353	0.97[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs805354	0.82[AMR][1000 genomes]
rs805355	0.82[AMR][1000 genomes]
rs805356	0.82[AMR][1000 genomes]
rs805357	0.82[AMR][1000 genomes]
rs805362	0.82[AMR][1000 genomes]
rs805368	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs805383	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs805385	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs805397	0.81[AMR][1000 genomes]
rs805398	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs805401	0.81[AMR][1000 genomes]
rs805404	0.81[AMR][1000 genomes]
rs805413	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs805446	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs805447	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs805449	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs805451	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs805452	0.85[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs809281	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	chr2:54087600-54187600	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	chr2:54122200-54172800	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:54135600-54172200	Weak transcription	Fetal Heart	heart
8	chr2:54139200-54176600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr2:54139200-54177000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:54139400-54176200	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:54139600-54170800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr2:54139600-54177000	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr2:54141400-54170600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:54143000-54177600	Strong transcription	HepG2	liver
15	chr2:54143400-54176200	Strong transcription	HMEC	breast
16	chr2:54149800-54177000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:54151000-54189800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:54153200-54179800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr2:54153400-54194600	Weak transcription	Fetal Brain Male	brain
20	chr2:54156600-54188000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:54156600-54190000	Weak transcription	Spleen	Spleen
22	chr2:54157000-54168000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:54158600-54173600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr2:54159200-54173200	Weak transcription	Gastric	stomach
25	chr2:54159200-54177000	Weak transcription	Pancreas	Pancrea
26	chr2:54159200-54177200	Weak transcription	Right Ventricle	heart
27	chr2:54159200-54188000	Weak transcription	Colonic Mucosa	Colon
28	chr2:54159200-54188000	Weak transcription	Esophagus	oesophagus
29	chr2:54159200-54188200	Weak transcription	Small Intestine	intestine
30	chr2:54159200-54189400	Weak transcription	Aorta	Aorta
31	chr2:54159200-54189800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr2:54159400-54169800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr2:54159400-54195800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr2:54160000-54173600	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr2:54160800-54170600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr2:54160800-54172400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr2:54160800-54173600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr2:54160800-54173600	Weak transcription	Fetal Intestine Small	intestine
39	chr2:54160800-54173800	Weak transcription	Thymus	Thymus
40	chr2:54160800-54177200	Weak transcription	Lung	lung
41	chr2:54160800-54179400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr2:54161400-54168400	Weak transcription	Brain Angular Gyrus	brain
43	chr2:54161600-54172200	Weak transcription	Brain Anterior Caudate	brain
44	chr2:54161600-54189800	Weak transcription	Ovary	ovary
45	chr2:54161800-54169600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr2:54162000-54173200	Weak transcription	Psoas Muscle	Psoas
47	chr2:54162800-54170800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr2:54162800-54172200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr2:54162800-54172200	Weak transcription	HSMMtube	muscle
50	chr2:54162800-54173200	Weak transcription	H9 Cell Line	embryonic stem cell

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