Variant report

Variant	rs17838083
Chromosome Location	chr1:80841516-80841517
allele	C/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	chr1:80840772-80841661	IMR90	lung:	n/a	chr1:80840946-80840957
2	JUND	chr1:80840806-80841804	Hela-S3	cervix:	n/a	n/a
3	STAT3	chr1:80841271-80841842	Hela-S3	cervix:	n/a	chr1:80841345-80841356
4	FOS	chr1:80841263-80841758	MCF10A-Er-Src	breast:	n/a	n/a
5	JUND	chr1:80841425-80841769	SK-N-SH	brain:	n/a	n/a
6	FOSL2	chr1:80841246-80841808	SK-N-SH	brain:	n/a	n/a
7	STAT3	chr1:80841390-80841665	MCF10A-Er-Src	breast:	n/a	n/a
8	STAT3	chr1:80841294-80841679	MCF10A-Er-Src	breast:	n/a	chr1:80841345-80841356
9	CEBPB	chr1:80840764-80841890	Hela-S3	cervix:	n/a	chr1:80840946-80840957
10	FOS	chr1:80841343-80841718	MCF10A-Er-Src	breast:	n/a	n/a
11	EP300	chr1:80840822-80841745	Hela-S3	cervix:	n/a	chr1:80840921-80840935 chr1:80840947-80840961
12	MYC	chr1:80841343-80841659	MCF10A-Er-Src	breast:	n/a	n/a
13	STAT3	chr1:80841174-80841672	MCF10A-Er-Src	breast:	n/a	chr1:80841345-80841356
14	FOS	chr1:80841343-80841716	MCF10A-Er-Src	breast:	n/a	n/a
15	GATA3	chr1:80841363-80841854	SK-N-SH	brain:	n/a	n/a
16	FOS	chr1:80841307-80841733	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000225598	TF binding region

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10157318	0.99[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10157322	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10157814	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10157823	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10159330	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10493671	0.99[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11162979	0.81[ASN][1000 genomes]
rs11162981	0.81[ASN][1000 genomes]
rs12401596	0.81[ASN][1000 genomes]
rs12561868	0.81[ASN][1000 genomes]
rs12562028	0.98[ASN][1000 genomes]
rs13374328	0.99[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17104714	0.99[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17104717	0.98[ASN][1000 genomes]
rs17104719	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17104725	0.99[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17104728	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17104730	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17104775	0.94[ASN][1000 genomes]
rs1873488	0.81[ASN][1000 genomes]
rs1873490	0.81[ASN][1000 genomes]
rs1873491	0.96[ASN][1000 genomes]
rs2389030	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2389031	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2389032	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28491481	0.99[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28594253	0.99[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28673042	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs41376147	1.00[EUR][1000 genomes]
rs4284215	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5022556	0.94[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs58880380	0.99[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72933135	0.95[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs72933145	0.99[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72933147	0.99[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7413303	0.81[ASN][1000 genomes]
rs890566	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012286	chr1:80057078-81005153	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv535018	chr1:80057078-81005153	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1000792	chr1:80076146-81015283	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv546661	chr1:80656114-81156849	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1011060	chr1:80745999-80972049	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv871859	chr1:80752283-80908148	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv546662	chr1:80809034-80870692	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv999379	chr1:80810523-80843846	Enhancers Weak transcription Flanking Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv2754256	chr1:80811353-80992195	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv871451	chr1:80814734-80908148	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv546663	chr1:80838880-80909417	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv462272	chr1:80839278-80909417	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv546664	chr1:80839278-80909417	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:80839000-80843000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:80839200-80842000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:80840000-80842000	Enhancers	HMEC	breast
4	chr1:80840600-80841800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:80840600-80841800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:80840600-80842400	Enhancers	Fetal Heart	heart
7	chr1:80840600-80842800	Enhancers	Hela-S3	cervix
8	chr1:80840800-80841600	Weak transcription	HSMMtube	muscle
9	chr1:80840800-80842000	Enhancers	NHEK	skin
10	chr1:80841400-80842000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:80841400-80842200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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