Variant report

Variant	rs1792156
Chromosome Location	chr11:73529453-73529454
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	chr11:73528552..73530776-chr11:73572316..73575159,2	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10793065	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs10793066	0.84[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap]
rs10793067	0.92[ASW][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap]
rs10793068	0.82[CHB][hapmap]
rs10793069	0.82[CHB][hapmap]
rs10898931	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs10898935	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs10898938	0.87[TSI][hapmap]
rs10898946	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11235876	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];0.98[TSI][hapmap];0.81[EUR][1000 genomes]
rs11235883	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11235884	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12361691	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12420357	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap]
rs12788426	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1525749	0.89[GIH][hapmap];0.83[TSI][hapmap]
rs1614987	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1632159	0.96[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1670537	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1670540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1670543	0.88[CEU][hapmap];0.86[CHB][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1670549	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1670551	0.82[ASN][1000 genomes]
rs1670557	1.00[ASW][hapmap];0.96[CEU][hapmap];0.86[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1670559	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1670562	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1670564	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1670565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1670570	0.85[ASN][1000 genomes]
rs1670572	0.83[ASN][1000 genomes]
rs1723833	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1723835	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1723843	1.00[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];0.95[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1723848	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.82[LWK][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1792154	0.81[ASN][1000 genomes]
rs1792160	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1792161	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1792165	0.86[CHB][hapmap];0.87[CHD][hapmap];0.91[LWK][hapmap];0.85[ASN][1000 genomes]
rs1792166	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1792170	0.82[ASN][1000 genomes]
rs1792174	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1792176	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1792180	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1792183	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1792184	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1792187	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1792193	0.86[CHB][hapmap];0.87[CHD][hapmap];0.84[ASN][1000 genomes]
rs1792198	0.92[ASW][hapmap];0.88[CEU][hapmap];0.86[CHB][hapmap];0.82[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2140893	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2444601	0.82[ASN][1000 genomes]
rs2444603	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2444606	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2462621	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2511261	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2511270	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2511271	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2511272	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2512625	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2512628	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2512629	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2515093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2886816	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4471449	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4514449	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4558190	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs612914	0.80[CHB][hapmap]
rs653263	0.85[CHB][hapmap]
rs6592533	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7119055	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap]
rs7925514	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7934784	0.81[EUR][1000 genomes]
rs7938731	0.81[EUR][1000 genomes]
rs7940132	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs868667	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[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:9)

SNP	Gene	Cis/trans	Tissue	Source
rs1792156	RNF121	cis	cerebellum	SCAN
rs1792156	MRPL48	cis	multi-tissue	Pritchard
rs1792156	MRPL48	Cis_1M	lymphoblastoid	RTeQTL
rs1792156	MRPL48	cis	Whole Blood	GTEx
rs1792156	PAAF1	cis	lymphoblastoid	seeQTL
rs1792156	MRPL48	cis	cerebellum	SCAN
rs1792156	MRPL48	cis	lymphoblastoid	seeQTL
rs1792156	PAAF1	cis	Lymphoblastoid	GTEx
rs1792156	PLEKHB1	cis	parietal	SCAN

Chromatin state (count:106 , 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	chr11:73500400-73537000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr11:73500400-73542200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr11:73500400-73571400	Weak transcription	Fetal Brain Male	brain
7	chr11:73500400-73583800	Weak transcription	Colonic Mucosa	Colon
8	chr11:73500600-73538800	Weak transcription	Colon Smooth Muscle	Colon
9	chr11:73500600-73549200	Weak transcription	Osteobl	bone
10	chr11:73500600-73553800	Weak transcription	Fetal Lung	lung
11	chr11:73500800-73558800	Weak transcription	NHEK	skin
12	chr11:73503600-73532400	Weak transcription	Stomach Mucosa	stomach
13	chr11:73503600-73541200	Weak transcription	GM12878-XiMat	blood
14	chr11:73508400-73570600	Weak transcription	Psoas Muscle	Psoas
15	chr11:73508800-73533800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr11:73508800-73538200	Weak transcription	Placenta	Placenta
17	chr11:73508800-73538200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr11:73508800-73541400	Weak transcription	Esophagus	oesophagus
19	chr11:73508800-73565000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:73508800-73573800	Weak transcription	Spleen	Spleen
21	chr11:73508800-73575400	Weak transcription	Gastric	stomach
22	chr11:73509000-73530800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr11:73509000-73536800	Weak transcription	Adipose Nuclei	Adipose
24	chr11:73509000-73539400	Weak transcription	Ovary	ovary
25	chr11:73509000-73549400	Weak transcription	Brain Substantia Nigra	brain
26	chr11:73509000-73549600	Weak transcription	Brain Angular Gyrus	brain
27	chr11:73509000-73553200	Weak transcription	Lung	lung
28	chr11:73509200-73538400	Weak transcription	Brain Anterior Caudate	brain
29	chr11:73509600-73529600	Weak transcription	Brain Hippocampus Middle	brain
30	chr11:73509600-73538200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr11:73509600-73541200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr11:73511800-73529600	Weak transcription	Left Ventricle	heart
33	chr11:73516000-73553200	Weak transcription	HepG2	liver
34	chr11:73516200-73529800	Weak transcription	NH-A	brain
35	chr11:73516200-73532200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr11:73517000-73562800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr11:73517000-73565200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr11:73517400-73538200	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr11:73517600-73533400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr11:73517600-73549400	Weak transcription	Brain Cingulate Gyrus	brain
41	chr11:73517800-73537400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr11:73518000-73536400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr11:73518200-73537600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr11:73518200-73541000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr11:73518400-73541000	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr11:73518400-73584000	Weak transcription	Pancreas	Pancrea
47	chr11:73518600-73538000	Weak transcription	Primary B cells from cord blood	blood
48	chr11:73519400-73540400	Weak transcription	Primary hematopoietic stem cells	blood
49	chr11:73519600-73532400	Weak transcription	Fetal Brain Female	brain
50	chr11:73519600-73533200	Weak transcription	Hela-S3	cervix

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