Variant report

Variant	rs9436118
Chromosome Location	chr1:150462811-150462812
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:150458274..150463765-chr1:150483214..150490747,8	K562	blood:
2	chr1:150459991..150463132-chr1:150521583..150524853,3	K562	blood:
3	chr1:150458028..150460943-chr1:150462500..150464059,2	K562	blood:

Variant related genes	Relation type
ENSG00000143382	Chromatin interaction
ENSG00000225996	Chromatin interaction
ENSG00000143374	Chromatin interaction
ENSG00000228126	Chromatin interaction
ENSG00000264553	Chromatin interaction

Extended variants
information (count: 102 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10888583	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10888584	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1097066	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1097069	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1097071	0.86[ASN][1000 genomes]
rs11205370	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11205371	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11205373	0.95[EUR][1000 genomes]
rs11205375	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11205382	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11205384	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11205387	0.80[ASN][1000 genomes]
rs11581786	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11590406	0.87[ASN][1000 genomes]
rs12023277	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12031973	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12049177	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1260373	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1260385	0.86[ASN][1000 genomes]
rs1260391	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1260401	0.84[ASN][1000 genomes]
rs1260403	0.86[ASN][1000 genomes]
rs1260408	0.86[ASN][1000 genomes]
rs1260419	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1260420	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1260424	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1260457	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1260458	0.87[EUR][1000 genomes]
rs1262432	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12731296	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12736375	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1313568	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1313569	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1313570	0.84[EUR][1000 genomes]
rs13374465	0.86[ASN][1000 genomes]
rs1566225	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1694364	0.82[EUR][1000 genomes]
rs1694379	0.83[ASN][1000 genomes]
rs1694386	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1694390	0.83[EUR][1000 genomes]
rs1776265	0.86[ASN][1000 genomes]
rs1776270	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1776272	0.84[ASN][1000 genomes]
rs1815545	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1932934	0.99[EUR][1000 genomes]
rs2012751	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2133129	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2264417	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2275246	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35705743	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35784258	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3754214	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3754217	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3850844	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4446975	0.99[EUR][1000 genomes]
rs4451552	1.00[EUR][1000 genomes]
rs4926394	0.86[EUR][1000 genomes]
rs4926395	0.95[EUR][1000 genomes]
rs4926435	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4970922	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4970963	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4970964	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4970971	0.95[EUR][1000 genomes]
rs4970979	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5011187	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61819386	0.81[EUR][1000 genomes]
rs6664703	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6678973	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6684939	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6687311	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6699093	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs696615	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs696617	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs698914	0.86[ASN][1000 genomes]
rs698917	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs698920	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs698921	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs698922	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7411534	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7513182	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7513247	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7553647	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs828784	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs832621	0.95[EUR][1000 genomes]
rs834225	0.86[ASN][1000 genomes]
rs834234	0.87[EUR][1000 genomes]
rs834235	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs834237	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs834238	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs834241	0.88[EUR][1000 genomes]
rs834242	0.93[EUR][1000 genomes]
rs834243	0.84[EUR][1000 genomes]
rs863862	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs875514	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9126	0.81[AMR][1000 genomes]
rs9436009	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9436116	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9436120	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9436122	0.86[ASN][1000 genomes]
rs9661040	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv1006838	chr1:150440214-150722783	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9436118	MRPS21	cis	Thyroid	GTEx
rs9436118	MRPS21	cis	lung	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150460400-150463000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:150460600-150463000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:150460600-150463000	Weak transcription	Aorta	Aorta
4	chr1:150460600-150463000	Weak transcription	Gastric	stomach
5	chr1:150460600-150463800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:150460600-150469000	Weak transcription	Pancreas	Pancrea
7	chr1:150460600-150480200	Weak transcription	Right Atrium	heart
8	chr1:150460600-150480200	Weak transcription	Stomach Mucosa	stomach
9	chr1:150460800-150463000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:150460800-150463000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr1:150460800-150463000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr1:150460800-150463000	Weak transcription	Esophagus	oesophagus
13	chr1:150460800-150463000	Weak transcription	Lung	lung
14	chr1:150460800-150463200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr1:150460800-150463200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr1:150460800-150463400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr1:150460800-150463800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr1:150460800-150463800	Weak transcription	Psoas Muscle	Psoas
19	chr1:150460800-150464600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr1:150460800-150465600	Weak transcription	Small Intestine	intestine
21	chr1:150460800-150468600	Weak transcription	NHDF-Ad	bronchial
22	chr1:150460800-150470000	Weak transcription	HMEC	breast
23	chr1:150460800-150470600	Weak transcription	Fetal Brain Male	brain
24	chr1:150460800-150476800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:150460800-150478000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr1:150460800-150480000	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr1:150461000-150463000	Weak transcription	HUVEC	blood vessel
28	chr1:150461000-150463200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr1:150461000-150463200	Weak transcription	Brain Germinal Matrix	brain
30	chr1:150461000-150463200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr1:150461000-150463200	Weak transcription	HSMM	muscle
32	chr1:150461000-150464800	Weak transcription	A549	lung
33	chr1:150461000-150486800	Weak transcription	Fetal Heart	heart
34	chr1:150461200-150464200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
35	chr1:150461200-150466400	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr1:150461200-150466800	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr1:150461200-150473600	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr1:150461200-150478200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:150461200-150478600	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr1:150461400-150463200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr1:150461400-150463200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr1:150461400-150464200	Strong transcription	Colonic Mucosa	Colon
43	chr1:150461400-150464400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:150461400-150464400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:150461400-150466200	Strong transcription	HSMMtube	muscle
46	chr1:150461400-150466400	Strong transcription	Brain Angular Gyrus	brain
47	chr1:150461400-150466400	Strong transcription	Brain Hippocampus Middle	brain
48	chr1:150461400-150466600	Strong transcription	Placenta	Placenta
49	chr1:150461400-150466600	Strong transcription	NH-A	brain
50	chr1:150461400-150466800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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