Variant report

Variant	rs55665712
Chromosome Location	chr15:76304225-76304226
allele	A/C
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	MAFK	chr15:76304138-76304907	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr15:76303942-76304294	Hela-S3	cervix:	n/a	n/a
3	TEAD4	chr15:76303925-76305060	ECC-1	luminal epithelium:	n/a	chr15:76304967-76304976
4	EP300	chr15:76304178-76305092	A549	lung:	n/a	n/a
5	TBP	chr15:76304019-76305082	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr15:76303866-76304979	Hela-S3	cervix:	n/a	n/a
7	GTF3C2	chr15:76304028-76304774	Hela-S3	cervix:	n/a	n/a
8	RFX5	chr15:76304062-76305406	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr15:76303857-76305008	Hela-S3	cervix:	n/a	n/a
10	MYC	chr15:76303550-76304824	MCF10A-Er-Src	breast:	n/a	n/a
11	EP300	chr15:76303884-76305074	Hela-S3	cervix:	n/a	n/a
12	MAX	chr15:76304048-76305017	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
NRG4	TF binding region

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	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	0.86[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	1.00[EUR][1000 genomes]
rs4886750	0.85[EUR][1000 genomes]
rs55719276	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55782145	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55828994	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[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56218266	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57011816	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57127155	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57141410	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57429900	1.00[EUR][1000 genomes]
rs57737646	1.00[EUR][1000 genomes]
rs57968453	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57971067	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57973358	1.00[EUR][1000 genomes]
rs58044283	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58170668	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58399164	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58717562	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58789594	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59143042	1.00[EUR][1000 genomes]
rs59690620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59819402	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59839117	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60088262	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60155009	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60191258	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60817295	1.00[EUR][1000 genomes]
rs60846313	1.00[EUR][1000 genomes]
rs61240117	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61521312	0.86[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[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7174280	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7174365	1.00[AFR][1000 genomes];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	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7182720	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024005	1.00[EUR][1000 genomes]
rs74024006	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024007	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024009	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024011	1.00[EUR][1000 genomes]
rs74024014	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	1.00[AMR][1000 genomes]
rs74024020	1.00[EUR][1000 genomes]
rs74024021	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs74024022	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024023	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024028	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024029	1.00[EUR][1000 genomes]
rs74024030	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024032	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024035	0.86[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	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024041	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024042	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024043	1.00[EUR][1000 genomes]
rs74024044	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024045	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024047	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024048	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024049	1.00[EUR][1000 genomes]
rs74024051	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024052	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024053	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024063	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024064	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024065	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024071	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74024073	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8025372	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8028084	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8028766	1.00[EUR][1000 genomes]
rs8030469	0.86[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	0.98[AFR][1000 genomes];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	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8036952	1.00[EUR][1000 genomes]
rs8038729	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9672219	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9672952	0.86[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
rs55665712	FBXO22	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76302800-76304800	Active TSS	Hela-S3	cervix
2	chr15:76303000-76304800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr15:76303200-76305000	Active TSS	Stomach Mucosa	stomach
4	chr15:76303600-76305000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr15:76303800-76304400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr15:76303800-76304600	Active TSS	Liver	Liver
7	chr15:76303800-76304800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr15:76303800-76305000	Active TSS	Skeletal Muscle Male	skeletal muscle
9	chr15:76303800-76305000	Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr15:76303800-76305200	Active TSS	A549	lung
11	chr15:76304000-76304400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr15:76304000-76304400	Active TSS	HMEC	breast
13	chr15:76304000-76304600	Active TSS	NHEK	skin
14	chr15:76304000-76304800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr15:76304000-76304800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr15:76304000-76304800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
17	chr15:76304000-76304800	Active TSS	Fetal Stomach	stomach
18	chr15:76304000-76304800	Active TSS	Pancreas	Pancrea
19	chr15:76304000-76304800	Active TSS	Rectal Mucosa Donor 31	rectum
20	chr15:76304000-76305000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr15:76304000-76305000	Active TSS	Aorta	Aorta
22	chr15:76304000-76305000	Active TSS	Psoas Muscle	Psoas
23	chr15:76304000-76305000	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr15:76304200-76304400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr15:76304200-76304400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr15:76304200-76304600	Active TSS	Primary monocytes fromperipheralblood	blood
27	chr15:76304200-76304600	Flanking Active TSS	Primary hematopoietic stem cells	blood
28	chr15:76304200-76304800	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr15:76304200-76304800	Active TSS	K562	blood
30	chr15:76304200-76305000	Enhancers	Primary neutrophils fromperipheralblood	blood
31	chr15:76304200-76305000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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