Variant report

Variant	rs10888583
Chromosome Location	chr1:150439877-150439878
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:150438167..150440380-chr1:150446055..150448397,2	K562	blood:
2	chr1:150438878..150440881-chr1:150449500..150452066,3	K562	blood:
3	chr1:150439239..150440819-chr1:150442245..150443762,2	K562	blood:

Extended variants
information (count: 111 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs10888584	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1097066	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1097069	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1097071	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11205359	0.80[EUR][1000 genomes]
rs11205370	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11205371	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11205373	0.96[EUR][1000 genomes]
rs11205375	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11205382	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11205384	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11581786	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11590406	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12023277	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12031973	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12049177	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12093148	0.81[AMR][1000 genomes]
rs1260373	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1260385	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1260391	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1260398	0.80[EUR][1000 genomes]
rs1260401	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1260403	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1260404	0.81[EUR][1000 genomes]
rs1260407	0.81[EUR][1000 genomes]
rs1260408	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1260409	0.80[EUR][1000 genomes]
rs1260419	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1260420	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1260424	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1260457	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1260458	0.88[EUR][1000 genomes]
rs1262432	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12731296	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12736375	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1313568	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1313569	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1313570	0.85[EUR][1000 genomes]
rs13374465	0.90[ASN][1000 genomes]
rs1566225	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1694364	0.83[EUR][1000 genomes]
rs1694379	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1694386	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1694390	0.84[EUR][1000 genomes]
rs1776265	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1776270	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1776272	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1815545	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1932934	0.99[EUR][1000 genomes]
rs2012751	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2133129	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2264417	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2275246	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2794680	0.80[AMR][1000 genomes]
rs35705743	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35784258	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3754214	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3754217	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3850844	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4446975	0.98[EUR][1000 genomes]
rs4451552	0.99[EUR][1000 genomes]
rs471738	0.80[EUR][1000 genomes]
rs488271	0.80[EUR][1000 genomes]
rs4926394	0.87[EUR][1000 genomes]
rs4926395	0.96[EUR][1000 genomes]
rs4926435	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4970922	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4970963	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4970964	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4970971	0.94[EUR][1000 genomes]
rs4970979	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5011187	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs543179	0.80[EUR][1000 genomes]
rs580159	0.80[EUR][1000 genomes]
rs61819386	0.80[EUR][1000 genomes]
rs6664703	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6678973	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6684939	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687311	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6699093	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs696615	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs696617	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs698914	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs698917	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs698920	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs698921	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs698922	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7411534	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7513182	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7513247	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7553647	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8006	0.80[EUR][1000 genomes]
rs828784	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs832621	0.96[EUR][1000 genomes]
rs834225	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs834234	0.88[EUR][1000 genomes]
rs834235	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs834237	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs834238	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs834241	0.89[EUR][1000 genomes]
rs834242	0.95[EUR][1000 genomes]
rs834243	0.85[EUR][1000 genomes]
rs863862	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs875514	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9436009	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9436116	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9436118	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9436120	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9436122	0.82[ASN][1000 genomes]
rs9661040	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10888583	MRPS21	cis	Thyroid	GTEx
rs10888583	MRPS21	cis	lung	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150373200-150442800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:150383400-150443200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr1:150401400-150448200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:150411200-150446400	Strong transcription	Dnd41	blood
5	chr1:150412000-150443000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr1:150413600-150446200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr1:150413600-150446400	Strong transcription	Primary B cells from peripheral blood	blood
8	chr1:150413800-150446000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:150414000-150446400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr1:150414200-150440800	Strong transcription	Fetal Intestine Large	intestine
11	chr1:150414400-150442200	Weak transcription	Fetal Heart	heart
12	chr1:150419200-150441000	Weak transcription	HMEC	breast
13	chr1:150419200-150442200	Weak transcription	NH-A	brain
14	chr1:150419200-150443200	Weak transcription	Psoas Muscle	Psoas
15	chr1:150422800-150446400	Strong transcription	Fetal Stomach	stomach
16	chr1:150423800-150447200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:150424800-150446600	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr1:150425200-150446200	Strong transcription	Fetal Muscle Trunk	muscle
19	chr1:150425800-150445600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr1:150425800-150445800	Strong transcription	Fetal Muscle Leg	muscle
21	chr1:150425800-150447000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:150426800-150446400	Strong transcription	Fetal Intestine Small	intestine
23	chr1:150428400-150443200	Weak transcription	Small Intestine	intestine
24	chr1:150428600-150446400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:150429000-150442600	Weak transcription	Stomach Mucosa	stomach
26	chr1:150429600-150440400	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr1:150429600-150447000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:150429800-150440600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:150430000-150442600	Weak transcription	Colonic Mucosa	Colon
30	chr1:150430400-150443000	Weak transcription	NHLF	lung
31	chr1:150430600-150442200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr1:150431000-150443000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr1:150431400-150442800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr1:150431400-150443000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr1:150432200-150443200	Weak transcription	Esophagus	oesophagus
36	chr1:150432600-150443200	Weak transcription	Fetal Brain Male	brain
37	chr1:150432800-150441400	Weak transcription	NHEK	skin
38	chr1:150432800-150442200	Weak transcription	Brain Hippocampus Middle	brain
39	chr1:150432800-150442200	Weak transcription	HSMMtube	muscle
40	chr1:150432800-150442600	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr1:150432800-150442800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:150432800-150443200	Weak transcription	HUVEC	blood vessel
43	chr1:150433000-150443200	Weak transcription	Osteobl	bone
44	chr1:150433200-150443200	Weak transcription	Right Ventricle	heart
45	chr1:150433400-150440200	Weak transcription	Left Ventricle	heart
46	chr1:150433400-150443000	Weak transcription	Rectal Smooth Muscle	rectum
47	chr1:150433800-150446400	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr1:150434200-150444200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr1:150434600-150440000	Strong transcription	Duodenum Mucosa	Duodenum
50	chr1:150434800-150443000	Weak transcription	Spleen	Spleen

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