Variant report

Variant	rs4512366
Chromosome Location	chr8:125459719-125459720
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	chr8:125459320-125459905	HCT-116	colon:	n/a	n/a
2	RFX5	chr8:125459413-125459824	Hela-S3	cervix:	n/a	n/a
3	MAX	chr8:125459507-125459761	K562	blood:	n/a	chr8:125459622-125459632
4	MAX	chr8:125459232-125459908	HCT-116	colon:	n/a	chr8:125459622-125459632
5	JUND	chr8:125459312-125459965	HCT-116	colon:	n/a	n/a
6	FOS	chr8:125459482-125459769	MCF10A-Er-Src	breast:	n/a	n/a
7	CEBPB	chr8:125459242-125459979	HCT-116	colon:	n/a	n/a
8	MAX	chr8:125459404-125459940	HCT-116	colon:	n/a	chr8:125459622-125459632
9	JUND	chr8:125459454-125459859	Hela-S3	cervix:	n/a	n/a
10	FOSL2	chr8:125459459-125459777	HepG2	liver:	n/a	n/a
11	MAFK	chr8:125459481-125459787	K562	blood:	n/a	n/a
12	MYC	chr8:125459437-125460282	K562	blood:	n/a	chr8:125459622-125459632
13	FOS	chr8:125459494-125459735	MCF10A-Er-Src	breast:	n/a	n/a
14	USF2	chr8:125459477-125459812	Hela-S3	cervix:	n/a	chr8:125459622-125459633
15	EP300	chr8:125459412-125459770	K562	blood:	n/a	n/a
16	ATF3	chr8:125459420-125459781	K562	blood:	n/a	n/a
17	MAX	chr8:125459446-125459812	Hela-S3	cervix:	n/a	chr8:125459622-125459632
18	CEBPB	chr8:125459463-125459765	HepG2	liver:	n/a	n/a
19	MAX	chr8:125459464-125459775	K562	blood:	n/a	chr8:125459622-125459632
20	JUN	chr8:125459432-125459768	K562	blood:	n/a	n/a
21	MYC	chr8:125459578-125459739	MCF10A-Er-Src	breast:	n/a	chr8:125459622-125459632
22	RFX5	chr8:125459501-125459768	HepG2	liver:	n/a	n/a
23	MYC	chr8:125459449-125459772	MCF10A-Er-Src	breast:	n/a	chr8:125459622-125459632
24	CEBPB	chr8:125459425-125459783	IMR90	lung:	n/a	n/a
25	MAFF	chr8:125459507-125459790	K562	blood:	n/a	n/a
26	RCOR1	chr8:125459477-125459775	K562	blood:	n/a	n/a
27	CUX1	chr8:125459551-125459777	K562	blood:	n/a	n/a
28	CEBPB	chr8:125459437-125459772	K562	blood:	n/a	n/a
29	GTF2F1	chr8:125459495-125459729	Hela-S3	cervix:	n/a	n/a
30	FOSL1	chr8:125459271-125459870	HCT-116	colon:	n/a	n/a
31	MAX	chr8:125459494-125459743	NB4	blood:	n/a	chr8:125459622-125459632
32	EP300	chr8:125459409-125459920	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr8:125459463-125459794	HCT-116	colon:	n/a	n/a
34	JUND	chr8:125459424-125459823	K562	blood:	n/a	n/a
35	FOS	chr8:125459561-125459758	MCF10A-Er-Src	breast:	n/a	n/a
36	JUN	chr8:125459121-125460178	K562	blood:	n/a	n/a
37	MAX	chr8:125459442-125459805	K562	blood:	n/a	chr8:125459622-125459632
38	CEBPB	chr8:125459423-125459837	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:124792624..124795520-chr8:125459150..125461003,2	K562	blood:
2	chr8:125448058..125451036-chr8:125458911..125461802,2	MCF-7	breast:
3	chr8:125457794..125459767-chr8:125524535..125526756,2	K562	blood:
4	chr8:125458816..125460797-chr8:125549847..125552574,2	MCF-7	breast:
5	chr8:125458853..125460594-chr8:125466039..125468256,2	K562	blood:
6	chr8:125458285..125469406-chr8:125482519..125490004,41	MCF-7	breast:
7	chr8:125459427..125466261-chr8:125549985..125555147,10	K562	blood:

Variant related genes	Relation type
TRMT12	TF binding region
ENSG00000170881	Chromatin interaction
ENSG00000176853	Chromatin interaction
ENSG00000245149	Chromatin interaction
ENSG00000147687	Chromatin interaction
ENSG00000147684	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10956184	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10956185	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.94[TSI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10956189	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.84[MEX][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11556913	1.00[ASN][1000 genomes]
rs12542260	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.92[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12544211	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12544621	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12545267	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12546906	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12548836	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.94[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12550827	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4128469	0.88[CEU][hapmap];0.92[TSI][hapmap];0.80[AMR][1000 genomes]
rs4551335	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4602869	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5004281	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.94[TSI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56942034	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57941917	0.92[AMR][1000 genomes]
rs62527883	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62527884	0.80[AMR][1000 genomes]
rs62527886	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62527901	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62527908	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62527910	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6987213	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6987358	0.87[CEU][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7009847	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72713049	0.80[AMR][1000 genomes]
rs7830325	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7834203	0.80[AMR][1000 genomes]
rs7836802	0.80[AMR][1000 genomes]
rs7845008	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.94[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762769	chr8:125167256-125480574	Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1034768	chr8:125323011-125481733	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv531508	chr8:125390194-125587953	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
4	nsv891430	chr8:125431030-125485027	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1017848	chr8:125432689-125489052	Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
6	nsv891431	chr8:125437811-125485027	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv891432	chr8:125438093-125485027	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv891433	chr8:125438093-125498547	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4512366	TRIB1	cis	parietal	SCAN
rs4512366	ZHX2	cis	cerebellum	SCAN
rs4512366	TRMT12	cis	Whole Blood	GTEx
rs4512366	TRMT12	cis	multi-tissue	Pritchard

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125450800-125462600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:125453200-125461800	Weak transcription	HMEC	breast
3	chr8:125456200-125462200	Weak transcription	Psoas Muscle	Psoas
4	chr8:125459000-125460200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr8:125459200-125459800	Enhancers	Adipose Nuclei	Adipose
6	chr8:125459200-125460000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr8:125459200-125460400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:125459200-125460400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr8:125459200-125460400	Enhancers	NHDF-Ad	bronchial
10	chr8:125459200-125460600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:125459200-125461000	Enhancers	K562	blood
12	chr8:125459400-125459800	Enhancers	NHLF	lung
13	chr8:125459400-125460000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:125459400-125460000	Enhancers	Hela-S3	cervix
15	chr8:125459400-125460000	Enhancers	Osteobl	bone
16	chr8:125459400-125460200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:125459400-125460400	Enhancers	HSMMtube	muscle
18	chr8:125459400-125460600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:125459400-125462000	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr8:125459600-125460000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr8:125459600-125460200	Enhancers	HSMM	muscle
22	chr8:125459600-125460400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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