Variant report

Variant	rs2053052
Chromosome Location	chr5:147029505-147029506
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10040051	0.82[ASN][1000 genomes]
rs10040261	0.82[ASN][1000 genomes]
rs10052305	0.82[ASN][1000 genomes]
rs10053816	0.82[ASN][1000 genomes]
rs10070469	0.82[ASN][1000 genomes]
rs11167995	0.82[ASN][1000 genomes]
rs12653862	1.00[AFR][1000 genomes]
rs12654501	0.82[ASN][1000 genomes]
rs12654982	0.82[ASN][1000 genomes]
rs12655190	0.82[ASN][1000 genomes]
rs12655622	0.82[ASN][1000 genomes]
rs12656104	0.97[ASN][1000 genomes]
rs12657616	0.82[ASN][1000 genomes]
rs12657989	0.82[ASN][1000 genomes]
rs12659905	1.00[AFR][1000 genomes]
rs13162740	0.91[EUR][1000 genomes]
rs13172946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1368362	0.82[ASN][1000 genomes]
rs17106944	0.82[ASN][1000 genomes]
rs17106946	0.82[ASN][1000 genomes]
rs17106961	0.82[ASN][1000 genomes]
rs17106975	0.83[ASN][1000 genomes]
rs17107181	0.94[EUR][1000 genomes]
rs17107192	0.94[EUR][1000 genomes]
rs17107200	0.91[EUR][1000 genomes]
rs17495305	1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17495840	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17496036	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17496399	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17496550	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17497229	1.00[AFR][1000 genomes]
rs17498180	1.00[AFR][1000 genomes]
rs17561036	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17561784	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17562343	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17563332	1.00[AFR][1000 genomes]
rs17563872	1.00[AFR][1000 genomes]
rs2053050	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2304037	0.82[ASN][1000 genomes]
rs2304038	0.82[ASN][1000 genomes]
rs2304039	0.82[ASN][1000 genomes]
rs2400345	0.82[ASN][1000 genomes]
rs35130412	1.00[AFR][1000 genomes]
rs35285805	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3763087	0.82[ASN][1000 genomes]
rs3763088	0.82[ASN][1000 genomes]
rs3763089	0.82[ASN][1000 genomes]
rs3763090	0.82[ASN][1000 genomes]
rs3763091	0.82[ASN][1000 genomes]
rs3763095	0.82[ASN][1000 genomes]
rs3765007	0.82[ASN][1000 genomes]
rs3765008	0.82[ASN][1000 genomes]
rs4705041	0.82[ASN][1000 genomes]
rs4705042	1.00[AFR][1000 genomes]
rs4705180	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs4705184	0.80[ASN][1000 genomes]
rs4705185	0.80[ASN][1000 genomes]
rs4705189	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4705190	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58292951	0.82[ASN][1000 genomes]
rs59260415	0.82[ASN][1000 genomes]
rs6580481	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs6580482	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs6580483	1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs6867185	0.80[ASN][1000 genomes]
rs6870396	0.82[ASN][1000 genomes]
rs6880748	0.82[ASN][1000 genomes]
rs6881661	0.82[ASN][1000 genomes]
rs6895952	1.00[AFR][1000 genomes]
rs71580441	1.00[AFR][1000 genomes]
rs72835149	1.00[AFR][1000 genomes]
rs73266286	0.80[ASN][1000 genomes]
rs73268103	0.82[ASN][1000 genomes]
rs73268104	0.82[ASN][1000 genomes]
rs73268117	0.82[ASN][1000 genomes]
rs73268122	0.82[ASN][1000 genomes]
rs73268130	0.82[ASN][1000 genomes]
rs73268132	0.82[ASN][1000 genomes]
rs73268147	0.83[ASN][1000 genomes]
rs7443154	0.82[ASN][1000 genomes]
rs7443158	0.82[ASN][1000 genomes]
rs7444805	0.82[ASN][1000 genomes]
rs7448588	0.82[ASN][1000 genomes]
rs7449194	0.80[ASN][1000 genomes]
rs7706268	0.82[ASN][1000 genomes]
rs7707600	0.82[ASN][1000 genomes]
rs7713552	0.80[ASN][1000 genomes]
rs7713571	0.80[ASN][1000 genomes]
rs7713582	0.80[ASN][1000 genomes]
rs7728938	0.83[ASN][1000 genomes]
rs9686374	0.82[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2053052	GRPEL2	cis	parietal	SCAN

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:146957800-147038000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:147009400-147033200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:147009800-147051200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr5:147013000-147030200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
5	chr5:147013000-147038400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:147014000-147029800	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr5:147014000-147030400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:147014200-147030400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr5:147015000-147030000	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:147015400-147050000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr5:147016400-147052400	Weak transcription	Primary B cells from cord blood	blood
12	chr5:147016600-147037400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:147016600-147037800	Weak transcription	Fetal Stomach	stomach
14	chr5:147016600-147038200	Weak transcription	Brain Angular Gyrus	brain
15	chr5:147016600-147047400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr5:147020000-147037000	Weak transcription	Fetal Brain Male	brain
17	chr5:147021400-147037200	Weak transcription	Fetal Brain Female	brain
18	chr5:147021400-147042800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr5:147022800-147037600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:147023200-147037600	Weak transcription	Thymus	Thymus
21	chr5:147023200-147037800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr5:147023400-147036800	Weak transcription	Brain Germinal Matrix	brain
23	chr5:147023800-147037400	Weak transcription	Fetal Lung	lung
24	chr5:147024200-147038400	Weak transcription	Brain Cingulate Gyrus	brain
25	chr5:147024600-147035600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:147024600-147037800	Weak transcription	Brain Anterior Caudate	brain
27	chr5:147024800-147037600	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr5:147025200-147041200	Weak transcription	Brain Hippocampus Middle	brain
29	chr5:147025200-147053000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr5:147025400-147034800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr5:147025400-147037400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr5:147025400-147037400	Weak transcription	Fetal Thymus	thymus
33	chr5:147025400-147038200	Weak transcription	Brain Substantia Nigra	brain
34	chr5:147025400-147038400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr5:147025400-147040400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr5:147025600-147031000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr5:147027000-147031200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr5:147027400-147030200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr5:147027400-147038200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr5:147027600-147030200	Strong transcription	Primary T cells from cord blood	blood
41	chr5:147028200-147030000	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr5:147028400-147030400	Weak transcription	Small Intestine	intestine
43	chr5:147028600-147031800	Weak transcription	Primary hematopoietic stem cells	blood
44	chr5:147028600-147032600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr5:147028600-147038200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr5:147028600-147038200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr5:147029000-147037600	Weak transcription	H1 Cell Line	embryonic stem cell

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