Variant report

Variant	rs7940132
Chromosome Location	chr11:73505030-73505031
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73502201..73506275-chr11:73584867..73589472,4	MCF-7	breast:
2	chr11:73498673..73501559-chr11:73502967..73505428,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000181924	Chromatin interaction
ENSG00000175581	Chromatin interaction
ENSG00000175575	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10751229	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10793066	0.83[EUR][1000 genomes]
rs10898946	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11235876	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11235883	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11235884	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12361691	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12788426	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1614987	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1632159	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1670537	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1670540	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1670543	0.82[ASN][1000 genomes]
rs1670549	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1670557	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1670559	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1670562	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1670564	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1670565	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1670570	0.82[ASN][1000 genomes]
rs1670572	0.81[ASN][1000 genomes]
rs1723833	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1723835	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1723843	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1723848	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1792156	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1792160	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1792161	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1792165	0.82[ASN][1000 genomes]
rs1792166	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1792174	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1792176	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1792180	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1792183	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1792184	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1792187	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1792193	0.81[ASN][1000 genomes]
rs1792198	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2140893	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2444603	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2444606	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2462621	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2511261	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2511270	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2511271	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2511272	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2512625	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2512628	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2512629	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2515093	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2886816	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4471449	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4514449	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4548647	0.85[AMR][1000 genomes]
rs4558190	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592533	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7925514	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7933372	0.80[ASN][1000 genomes]
rs7938731	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs868667	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	esv3426251	chr11:73461503-73538032	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7940132	MRPL48	cis	multi-tissue	Pritchard
rs7940132	MRPL48	cis	Whole Blood	GTEx
rs7940132	MRPL48	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73499400-73507000	Weak transcription	Gastric	stomach
2	chr11:73499400-73507000	Weak transcription	Lung	lung
3	chr11:73499400-73507000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr11:73499400-73507200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:73499600-73529200	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr11:73499600-73549600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:73499600-73583800	Weak transcription	Aorta	Aorta
8	chr11:73499800-73507000	Weak transcription	Esophagus	oesophagus
9	chr11:73499800-73507000	Weak transcription	Spleen	Spleen
10	chr11:73499800-73507200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:73499800-73507200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:73499800-73507200	Weak transcription	Ovary	ovary
13	chr11:73499800-73529400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:73500000-73507000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr11:73500000-73507000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr11:73500000-73507000	Weak transcription	Thymus	Thymus
17	chr11:73500000-73507200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr11:73500000-73507600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr11:73500000-73516200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:73500000-73518200	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr11:73500000-73519000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr11:73500000-73520800	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr11:73500000-73526800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr11:73500200-73507000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:73500200-73507000	Weak transcription	Fetal Muscle Trunk	muscle
26	chr11:73500200-73507000	Weak transcription	Fetal Thymus	thymus
27	chr11:73500200-73507200	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr11:73500200-73507200	Weak transcription	Adipose Nuclei	Adipose
29	chr11:73500200-73507200	Weak transcription	Pancreas	Pancrea
30	chr11:73500200-73507400	Weak transcription	Placenta	Placenta
31	chr11:73500200-73507400	Weak transcription	Right Atrium	heart
32	chr11:73500200-73508200	Weak transcription	Primary B cells from peripheral blood	blood
33	chr11:73500200-73518800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr11:73500200-73519200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:73500200-73526800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:73500200-73528200	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr11:73500200-73574200	Weak transcription	Right Ventricle	heart
38	chr11:73500400-73506200	Weak transcription	HUVEC	blood vessel
39	chr11:73500400-73506400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr11:73500400-73506800	Weak transcription	Fetal Heart	heart
41	chr11:73500400-73507000	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr11:73500400-73507200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:73500400-73507200	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr11:73500400-73508200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:73500400-73517600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr11:73500400-73537000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr11:73500400-73542200	Weak transcription	Rectal Smooth Muscle	rectum
48	chr11:73500400-73571400	Weak transcription	Fetal Brain Male	brain
49	chr11:73500400-73583800	Weak transcription	Colonic Mucosa	Colon
50	chr11:73500600-73506800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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