Variant report

Variant	rs13093830
Chromosome Location	chr3:47960511-47960512
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:47959598..47961533-chr3:47965469..47967262,2	K562	blood:

Extended variants
information (count: 117 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs1013431	0.88[EUR][1000 genomes]
rs1060407	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1061003	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11130150	0.81[ASN][1000 genomes]
rs11130152	0.86[EUR][1000 genomes]
rs11130154	0.89[EUR][1000 genomes]
rs1137524	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11707679	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13074973	0.89[EUR][1000 genomes]
rs13075457	0.86[EUR][1000 genomes]
rs13075795	0.87[EUR][1000 genomes]
rs13077230	0.81[ASN][1000 genomes]
rs13081701	0.86[EUR][1000 genomes]
rs1530646	0.89[EUR][1000 genomes]
rs1550914	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1665982	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1684942	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17290490	0.81[ASN][1000 genomes]
rs184388	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2053767	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2121754	0.89[EUR][1000 genomes]
rs2166770	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2166772	0.89[EUR][1000 genomes]
rs2631721	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28637561	0.89[EUR][1000 genomes]
rs2882668	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs319680	0.82[EUR][1000 genomes]
rs319681	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs319682	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs319684	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs319685	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs319686	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs319687	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs319688	0.94[EUR][1000 genomes]
rs319689	0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs319690	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs319691	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs319692	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs319693	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs319694	0.81[ASN][1000 genomes]
rs319695	0.91[ASN][1000 genomes]
rs319696	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34025851	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34750113	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35199727	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35314534	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35582375	0.81[ASN][1000 genomes]
rs35689209	0.84[EUR][1000 genomes]
rs35943823	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs3732529	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4293721	0.89[EUR][1000 genomes]
rs4296617	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4392441	0.87[EUR][1000 genomes]
rs4599334	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4858863	0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs4858871	0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4858876	0.84[EUR][1000 genomes]
rs4858880	0.83[EUR][1000 genomes]
rs4858881	0.82[EUR][1000 genomes]
rs4858887	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5012971	0.87[EUR][1000 genomes]
rs60446735	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62260764	0.82[EUR][1000 genomes]
rs6442090	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6442091	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6442094	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6442096	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6442101	0.83[EUR][1000 genomes]
rs6770467	0.89[EUR][1000 genomes]
rs6770477	0.89[EUR][1000 genomes]
rs6772396	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6773208	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6783629	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6791834	0.85[EUR][1000 genomes]
rs6803741	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6806820	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7374516	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7426976	0.89[EUR][1000 genomes]
rs7427418	0.89[EUR][1000 genomes]
rs7429990	0.82[EUR][1000 genomes]
rs7430879	0.89[EUR][1000 genomes]
rs7430913	0.89[EUR][1000 genomes]
rs7431567	0.81[AMR][1000 genomes]
rs7619882	0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7620736	0.85[EUR][1000 genomes]
rs7627645	0.87[EUR][1000 genomes]
rs7629850	0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7642590	0.86[EUR][1000 genomes]
rs7649981	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7653368	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs777014	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs777015	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs777017	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs796566	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs800762	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs810334	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9811277	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9812875	0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9814961	0.89[EUR][1000 genomes]
rs9842649	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9846062	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9850154	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9854454	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9860485	0.86[EUR][1000 genomes]
rs9862913	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006560	chr3:47867461-48037031	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
2	nsv1011662	chr3:47891634-48019462	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv536561	chr3:47891634-48019462	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv529989	chr3:47909480-48301481	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv1001056	chr3:47912342-48223849	Genic enhancers Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	esv1796001	chr3:47912703-48012797	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv1826403	chr3:47912703-48012797	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv1835684	chr3:47912703-48123540	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
9	esv1827272	chr3:47912703-48260968	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
10	nsv1000817	chr3:47927730-48032401	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	nsv1009243	chr3:47935331-48340448	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
12	nsv536562	chr3:47935331-48340448	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs13093830	MRPS18AP1	cis	Muscle Skeletal	GTEx
rs13093830	MRPS18AP1	cis	Nerve Tibial	GTEx
rs13093830	MRPS18AP1	cis	Artery Tibial	GTEx
rs13093830	MAP4	Cis_1M	lymphoblastoid	RTeQTL
rs13093830	MRPS18AP1	cis	Thyroid	GTEx
rs13093830	ZNF589	cis	Nerve Tibial	GTEx
rs13093830	DHX30	Cis_1M	lymphoblastoid	RTeQTL
rs13093830	NME6	cis	Esophagus Muscularis	GTEx
rs13093830	ZNF589	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47910200-47978000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr3:47932000-47969200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr3:47941400-47968000	Weak transcription	Stomach Mucosa	stomach
4	chr3:47942600-47963600	Strong transcription	Fetal Muscle Leg	muscle
5	chr3:47948600-47970800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr3:47949000-47960800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr3:47949600-47963200	Strong transcription	Fetal Muscle Trunk	muscle
8	chr3:47949600-47970000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr3:47950400-47963800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr3:47950600-47963400	Strong transcription	Fetal Thymus	thymus
11	chr3:47951200-47963400	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr3:47951600-47963800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:47952000-47963400	Strong transcription	Primary B cells from peripheral blood	blood
14	chr3:47952000-47972400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr3:47952600-47960800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr3:47952600-47979200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr3:47952800-47969200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr3:47953000-47960600	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr3:47953000-47961200	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr3:47953000-47964000	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr3:47953200-47969800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr3:47953600-47961600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr3:47953600-47963400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr3:47953800-47963400	Strong transcription	HSMM	muscle
25	chr3:47953800-47970200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr3:47953800-47971600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr3:47954000-47969400	Weak transcription	Psoas Muscle	Psoas
28	chr3:47955000-47960800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr3:47955200-47971000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr3:47955600-47961200	Strong transcription	NH-A	brain
31	chr3:47955600-47969800	Strong transcription	Fetal Intestine Small	intestine
32	chr3:47955600-47969800	Strong transcription	Fetal Stomach	stomach
33	chr3:47955800-47963000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr3:47955800-47971000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr3:47956000-47961200	Strong transcription	HepG2	liver
36	chr3:47956200-47960600	Strong transcription	HUVEC	blood vessel
37	chr3:47956200-47965400	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr3:47957000-47963200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr3:47957400-47962800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr3:47957800-47962800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr3:47957800-47991000	Weak transcription	Fetal Kidney	kidney
42	chr3:47958000-47960800	Weak transcription	Right Atrium	heart
43	chr3:47958000-47969800	Weak transcription	Brain Cingulate Gyrus	brain
44	chr3:47958200-47971000	Weak transcription	Primary hematopoietic stem cells	blood
45	chr3:47958400-47969400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr3:47958400-47976800	Weak transcription	Small Intestine	intestine
47	chr3:47958600-47962200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr3:47958600-47962200	Weak transcription	Aorta	Aorta
49	chr3:47958600-47962200	Weak transcription	Ovary	ovary
50	chr3:47958600-47962200	Weak transcription	Thymus	Thymus

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