Variant report

Variant	rs13277185
Chromosome Location	chr8:55068275-55068276
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10216491	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1039926	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10504161	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10958397	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11984645	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11984672	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11991952	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11993959	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11996128	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12114043	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12114739	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12679103	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12679542	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13261058	0.86[EUR][1000 genomes]
rs13276927	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16919782	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16919784	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2008122	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2271567	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2292589	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2292590	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2375696	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28573859	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34168614	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34997387	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4737487	0.91[EUR][1000 genomes]
rs4737488	0.91[EUR][1000 genomes]
rs4738678	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60183530	0.89[EUR][1000 genomes]
rs61213253	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61271559	0.89[EUR][1000 genomes]
rs61477279	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6473909	0.89[EUR][1000 genomes]
rs6473911	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6473913	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6473914	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6473915	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6983694	0.89[EUR][1000 genomes]
rs7011379	0.87[EUR][1000 genomes]
rs7011430	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7012031	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71517558	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72614666	0.89[EUR][1000 genomes]
rs72614670	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72614671	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7830051	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7842911	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs981638	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1026869	chr8:54989732-55089360	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13277185	MRPL15	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:55061600-55078000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr8:55061600-55078400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:55062200-55078400	Weak transcription	Right Atrium	heart
4	chr8:55062400-55068400	Enhancers	HUVEC	blood vessel
5	chr8:55063400-55078400	Weak transcription	Ovary	ovary
6	chr8:55063800-55069400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr8:55064000-55078000	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr8:55064200-55070600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr8:55064600-55078400	Weak transcription	Fetal Muscle Leg	muscle
10	chr8:55064800-55078000	Weak transcription	Fetal Intestine Small	intestine
11	chr8:55066400-55071200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr8:55066800-55068400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:55067000-55068400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:55067000-55071200	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr8:55067200-55071000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:55067200-55071000	Weak transcription	Placenta	Placenta
17	chr8:55067200-55071200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:55067200-55071200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:55067200-55071200	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr8:55067200-55071400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr8:55067200-55078000	Weak transcription	NHLF	lung
22	chr8:55067200-55078200	Weak transcription	Primary B cells from cord blood	blood
23	chr8:55067200-55078200	Weak transcription	Primary B cells from peripheral blood	blood
24	chr8:55067200-55078200	Weak transcription	HSMM	muscle
25	chr8:55067200-55078200	Weak transcription	NHDF-Ad	bronchial
26	chr8:55067200-55078400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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