Variant report

Variant	rs57127155
Chromosome Location	chr15:76237962-76237963
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr15:76237928-76238718	IMR90	lung:	n/a	n/a
2	STAT3	chr15:76237834-76238144	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:76235823..76238133-chr15:76240535..76242101,2	K562	blood:
2	chr15:76231213..76235489-chr15:76235646..76238510,7	K562	blood:

Variant related genes	Relation type
NRG4	TF binding region
ENSG00000169752	Chromatin interaction

Extended variants
information (count: 175 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:170)

rs_ID	r²[population]
rs1039547	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13379955	1.00[EUR][1000 genomes]
rs1394122	1.00[EUR][1000 genomes]
rs1498196	1.00[EUR][1000 genomes]
rs1498197	1.00[EUR][1000 genomes]
rs1498198	1.00[EUR][1000 genomes]
rs1503955	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1532783	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1562403	1.00[EUR][1000 genomes]
rs1695365	1.00[EUR][1000 genomes]
rs16967747	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs170830	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1874955	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1874956	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1910510	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1976328	1.00[EUR][1000 genomes]
rs2133099	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2133408	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2133409	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2133410	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2405578	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2441928	1.00[EUR][1000 genomes]
rs2454209	1.00[EUR][1000 genomes]
rs2454212	1.00[EUR][1000 genomes]
rs2454470	1.00[EUR][1000 genomes]
rs2454472	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2455897	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2460795	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2460796	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2460801	1.00[EUR][1000 genomes]
rs2469038	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2469040	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2593275	1.00[EUR][1000 genomes]
rs2593281	1.00[EUR][1000 genomes]
rs2593302	1.00[EUR][1000 genomes]
rs2604405	1.00[EUR][1000 genomes]
rs2648437	1.00[EUR][1000 genomes]
rs2655126	1.00[EUR][1000 genomes]
rs2655137	1.00[EUR][1000 genomes]
rs2947239	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2959851	1.00[EUR][1000 genomes]
rs334923	1.00[EUR][1000 genomes]
rs334937	1.00[EUR][1000 genomes]
rs334939	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs334940	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs334941	1.00[EUR][1000 genomes]
rs334951	1.00[EUR][1000 genomes]
rs335673	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs335674	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs335675	0.85[EUR][1000 genomes]
rs335676	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs335678	1.00[EUR][1000 genomes]
rs335679	1.00[EUR][1000 genomes]
rs335683	1.00[EUR][1000 genomes]
rs335684	1.00[EUR][1000 genomes]
rs335687	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs335693	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs335694	1.00[EUR][1000 genomes]
rs335695	1.00[EUR][1000 genomes]
rs335700	1.00[EUR][1000 genomes]
rs335701	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs335710	0.85[EUR][1000 genomes]
rs335713	1.00[EUR][1000 genomes]
rs335717	1.00[EUR][1000 genomes]
rs335724	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs335725	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs335726	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs335728	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs335729	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs335730	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs335731	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs335732	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs335733	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4482249	1.00[EUR][1000 genomes]
rs4489969	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4886750	0.85[EUR][1000 genomes]
rs55665712	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55719276	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55782145	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55828994	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56139080	1.00[EUR][1000 genomes]
rs56167836	1.00[EUR][1000 genomes]
rs56173902	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56218266	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57011816	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57141410	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57429900	1.00[EUR][1000 genomes]
rs57737646	1.00[EUR][1000 genomes]
rs57968453	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57971067	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57973358	1.00[EUR][1000 genomes]
rs58044283	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58170668	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58399164	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58717562	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58789594	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59143042	1.00[EUR][1000 genomes]
rs59690620	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59819402	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59839117	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60088262	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60155009	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60191258	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60817295	1.00[EUR][1000 genomes]
rs60846313	1.00[EUR][1000 genomes]
rs61240117	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61521312	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62027568	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7168988	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7173697	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7174280	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7174365	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7175758	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7180064	1.00[EUR][1000 genomes]
rs7181550	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7182720	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024005	1.00[EUR][1000 genomes]
rs74024006	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024007	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024009	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024011	1.00[EUR][1000 genomes]
rs74024014	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024015	1.00[EUR][1000 genomes]
rs74024016	1.00[EUR][1000 genomes]
rs74024017	1.00[EUR][1000 genomes]
rs74024019	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74024020	1.00[EUR][1000 genomes]
rs74024021	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs74024022	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024023	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024028	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024029	1.00[EUR][1000 genomes]
rs74024030	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024032	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024035	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024038	1.00[EUR][1000 genomes]
rs74024039	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024040	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024041	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024042	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024043	1.00[EUR][1000 genomes]
rs74024044	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024045	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024047	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024048	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024049	1.00[EUR][1000 genomes]
rs74024051	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024052	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024053	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024059	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024060	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024063	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024064	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024065	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024071	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024073	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8025372	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8028084	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8028766	1.00[EUR][1000 genomes]
rs8030469	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8030948	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8031263	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8033005	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8034430	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8035611	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8036952	1.00[EUR][1000 genomes]
rs8038729	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9672219	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9672952	0.91[AFR][1000 genomes]
rs974718	1.00[AMR][1000 genomes];1.00[EUR][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	nsv531903	chr15:75889302-76342128	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv1053717	chr15:76196674-76314542	Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1040053	chr15:76197988-76314542	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv904398	chr15:76220285-76359055	Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv569998	chr15:76232605-76550938	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs57127155	FBXO22	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76211400-76240200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr15:76217200-76252000	Weak transcription	Pancreas	Pancrea
3	chr15:76226600-76238600	Weak transcription	NHLF	lung
4	chr15:76228200-76239600	Weak transcription	Fetal Brain Female	brain
5	chr15:76230600-76238600	Weak transcription	Left Ventricle	heart
6	chr15:76230600-76239400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr15:76230600-76244400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr15:76230800-76238200	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr15:76230800-76246400	Weak transcription	Hela-S3	cervix
10	chr15:76231000-76239000	Weak transcription	Fetal Brain Male	brain
11	chr15:76231400-76239400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr15:76232200-76238400	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr15:76232200-76239400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr15:76232400-76239200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:76232800-76239400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr15:76236000-76238800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr15:76236600-76238400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr15:76236800-76238200	Weak transcription	HMEC	breast
19	chr15:76236800-76238200	Weak transcription	HSMM	muscle
20	chr15:76236800-76238400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr15:76237000-76238000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr15:76237000-76238000	Weak transcription	NH-A	brain
23	chr15:76237000-76238000	Weak transcription	Osteobl	bone
24	chr15:76237000-76238200	Weak transcription	NHEK	skin
25	chr15:76237000-76238400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr15:76237800-76238400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr15:76237800-76240200	Enhancers	HSMMtube	muscle

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