Variant report

Variant	rs1792176
Chromosome Location	chr11:73516841-73516842
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:73513283..73515517-chr11:73515530..73517828,2	K562	blood:
2	chr11:73498479..73501430-chr11:73513361..73517343,3	K562	blood:

Variant related genes	Relation type
ENSG00000175581	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	0.83[ASN][1000 genomes]
rs10898946	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11235876	0.84[ASN][1000 genomes]
rs11235883	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11235884	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12361691	0.85[ASN][1000 genomes]
rs12788426	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1614987	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1632159	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1670537	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1670540	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1670543	0.83[ASN][1000 genomes]
rs1670549	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1670551	0.81[ASN][1000 genomes]
rs1670557	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1670559	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1670562	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1670564	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1670565	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1670570	0.83[ASN][1000 genomes]
rs1670572	0.82[ASN][1000 genomes]
rs1723833	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1723835	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1723843	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1723848	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1792156	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1792160	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1792161	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1792165	0.83[ASN][1000 genomes]
rs1792166	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1792170	0.81[ASN][1000 genomes]
rs1792174	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1792180	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1792183	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1792184	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1792187	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1792193	0.83[ASN][1000 genomes]
rs1792198	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2140893	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2444601	0.81[ASN][1000 genomes]
rs2444603	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2444606	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2462621	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2511261	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2511270	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2511271	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2511272	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2512625	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2512628	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2512629	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2515093	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2886816	0.85[ASN][1000 genomes]
rs4471449	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4514449	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4558190	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6592533	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7925514	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7938731	0.84[ASN][1000 genomes]
rs7940132	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs868667	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[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
rs1792176	MRPL48	Cis_1M	lymphoblastoid	RTeQTL
rs1792176	MRPL48	cis	multi-tissue	Pritchard
rs1792176	MRPL48	cis	Whole Blood	GTEx

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73499600-73529200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr11:73499600-73549600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:73499600-73583800	Weak transcription	Aorta	Aorta
4	chr11:73499800-73529400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:73500000-73518200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr11:73500000-73519000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr11:73500000-73520800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr11:73500000-73526800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr11:73500200-73518800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr11:73500200-73519200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:73500200-73526800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:73500200-73528200	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr11:73500200-73574200	Weak transcription	Right Ventricle	heart
14	chr11:73500400-73517600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr11:73500400-73537000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:73500400-73542200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr11:73500400-73571400	Weak transcription	Fetal Brain Male	brain
18	chr11:73500400-73583800	Weak transcription	Colonic Mucosa	Colon
19	chr11:73500600-73519000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr11:73500600-73522000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr11:73500600-73528000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:73500600-73538800	Weak transcription	Colon Smooth Muscle	Colon
23	chr11:73500600-73549200	Weak transcription	Osteobl	bone
24	chr11:73500600-73553800	Weak transcription	Fetal Lung	lung
25	chr11:73500800-73524200	Weak transcription	A549	lung
26	chr11:73500800-73558800	Weak transcription	NHEK	skin
27	chr11:73503600-73532400	Weak transcription	Stomach Mucosa	stomach
28	chr11:73503600-73541200	Weak transcription	GM12878-XiMat	blood
29	chr11:73503800-73517000	Weak transcription	K562	blood
30	chr11:73504000-73517000	Weak transcription	Hela-S3	cervix
31	chr11:73507600-73518000	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr11:73507600-73522000	Weak transcription	HSMM	muscle
33	chr11:73507800-73517000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr11:73507800-73521800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr11:73508200-73529400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr11:73508400-73570600	Weak transcription	Psoas Muscle	Psoas
37	chr11:73508800-73517000	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr11:73508800-73517000	Weak transcription	Fetal Brain Female	brain
39	chr11:73508800-73517200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr11:73508800-73519400	Weak transcription	Thymus	Thymus
41	chr11:73508800-73522000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr11:73508800-73522200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:73508800-73533800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr11:73508800-73538200	Weak transcription	Placenta	Placenta
45	chr11:73508800-73538200	Weak transcription	Stomach Smooth Muscle	stomach
46	chr11:73508800-73541400	Weak transcription	Esophagus	oesophagus
47	chr11:73508800-73565000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:73508800-73573800	Weak transcription	Spleen	Spleen
49	chr11:73508800-73575400	Weak transcription	Gastric	stomach
50	chr11:73509000-73517000	Weak transcription	Fetal Thymus	thymus

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