Variant report

Variant	rs1792184
Chromosome Location	chr11:73541098-73541099
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10793067	0.81[ASN][1000 genomes]
rs10898946	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1095399	0.82[ASN][1000 genomes]
rs1614987	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1632159	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1670537	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1670540	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1670543	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1670549	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1670551	0.84[ASN][1000 genomes]
rs1670557	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1670559	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1670562	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1670564	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1670565	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1670570	0.92[ASN][1000 genomes]
rs1670572	0.91[ASN][1000 genomes]
rs1723833	0.83[AMR][1000 genomes]
rs1723835	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1723843	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1723848	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1792154	0.83[ASN][1000 genomes]
rs1792156	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1792160	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1792161	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1792165	0.92[ASN][1000 genomes]
rs1792166	0.82[EUR][1000 genomes]
rs1792170	0.83[ASN][1000 genomes]
rs1792174	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1792176	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1792180	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1792183	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1792187	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1792193	0.92[ASN][1000 genomes]
rs1792198	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2140893	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2444601	0.88[ASN][1000 genomes]
rs2444603	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2444606	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2462621	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2511261	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2511270	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2511271	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2511272	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2512625	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2512628	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2512629	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2515093	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4471449	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4514449	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4558190	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6592533	0.80[ASN][1000 genomes]
rs7925514	0.81[EUR][1000 genomes]
rs7934784	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7940132	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs868667	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS 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	55 gene(s)	inside rSNPs	diseases
2	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1792184	MRPL48	cis	Whole Blood	GTEx
rs1792184	MRPL48	Cis_1M	lymphoblastoid	RTeQTL
rs1792184	MRPL48	cis	multi-tissue	Pritchard

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73499600-73549600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:73499600-73583800	Weak transcription	Aorta	Aorta
3	chr11:73500200-73574200	Weak transcription	Right Ventricle	heart
4	chr11:73500400-73542200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr11:73500400-73571400	Weak transcription	Fetal Brain Male	brain
6	chr11:73500400-73583800	Weak transcription	Colonic Mucosa	Colon
7	chr11:73500600-73549200	Weak transcription	Osteobl	bone
8	chr11:73500600-73553800	Weak transcription	Fetal Lung	lung
9	chr11:73500800-73558800	Weak transcription	NHEK	skin
10	chr11:73503600-73541200	Weak transcription	GM12878-XiMat	blood
11	chr11:73508400-73570600	Weak transcription	Psoas Muscle	Psoas
12	chr11:73508800-73541400	Weak transcription	Esophagus	oesophagus
13	chr11:73508800-73565000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:73508800-73573800	Weak transcription	Spleen	Spleen
15	chr11:73508800-73575400	Weak transcription	Gastric	stomach
16	chr11:73509000-73549400	Weak transcription	Brain Substantia Nigra	brain
17	chr11:73509000-73549600	Weak transcription	Brain Angular Gyrus	brain
18	chr11:73509000-73553200	Weak transcription	Lung	lung
19	chr11:73509600-73541200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr11:73516000-73553200	Weak transcription	HepG2	liver
21	chr11:73517000-73562800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr11:73517000-73565200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr11:73517600-73549400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr11:73518400-73584000	Weak transcription	Pancreas	Pancrea
25	chr11:73522400-73549400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:73522400-73549400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr11:73525600-73549000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:73529800-73549200	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr11:73530000-73549600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:73530200-73541400	Weak transcription	HUVEC	blood vessel
31	chr11:73530200-73542000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:73530400-73549400	Weak transcription	HSMM	muscle
33	chr11:73530600-73549200	Weak transcription	NH-A	brain
34	chr11:73530600-73549400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr11:73530600-73549600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr11:73530800-73549200	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr11:73531000-73549200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:73531000-73549600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr11:73531800-73555600	Weak transcription	Fetal Kidney	kidney
40	chr11:73532000-73549400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr11:73532600-73546200	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr11:73532800-73548400	Weak transcription	Fetal Heart	heart
43	chr11:73533000-73580400	Weak transcription	Stomach Mucosa	stomach
44	chr11:73534400-73549200	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr11:73534600-73549400	Weak transcription	A549	lung
46	chr11:73534800-73542600	Strong transcription	Fetal Intestine Large	intestine
47	chr11:73535000-73542000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr11:73535000-73542200	Weak transcription	HMEC	breast
49	chr11:73535200-73544800	Strong transcription	Dnd41	blood
50	chr11:73535200-73549600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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