Variant report

Variant	rs4288342
Chromosome Location	chr8:39018783-39018784
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	NFIC	chr8:39018267-39018869	SK-N-SH	brain:	n/a	n/a
2	TCF12	chr8:39018146-39018864	SK-N-SH	brain:	n/a	n/a
3	JUND	chr8:39018235-39018895	SK-N-SH	brain:	n/a	n/a
4	TEAD4	chr8:39018239-39018897	SK-N-SH	brain:	n/a	chr8:39018835-39018844
5	TCF12	chr8:39018159-39018880	SK-N-SH	brain:	n/a	n/a
6	FOS	chr8:39018371-39019364	HUVEC	blood vessel:	n/a	n/a
7	FOSL2	chr8:39018218-39018817	SK-N-SH	brain:	n/a	n/a
8	GATA3	chr8:39018124-39018937	SK-N-SH	brain:	n/a	chr8:39018402-39018413
9	JUND	chr8:39018215-39018801	SK-N-SH	brain:	n/a	n/a
10	JUND	chr8:39018349-39018859	SK-N-SH	brain:	n/a	n/a
11	PBX3	chr8:39018259-39018789	SK-N-SH	brain:	n/a	n/a
12	GATA3	chr8:39018147-39018899	SK-N-SH	brain:	n/a	chr8:39018402-39018413

Variant related genes	Relation type
RPL3P10	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10103402	0.91[AFR][1000 genomes]
rs4382439	1.00[AMR][1000 genomes]
rs4404879	1.00[AMR][1000 genomes]
rs4476978	1.00[AMR][1000 genomes]
rs4733907	0.91[AFR][1000 genomes]
rs59851050	1.00[AMR][1000 genomes]
rs60402210	1.00[AMR][1000 genomes]
rs6983342	1.00[AMR][1000 genomes]
rs6984156	1.00[AMR][1000 genomes]
rs6987728	1.00[AMR][1000 genomes]
rs6999436	1.00[AMR][1000 genomes]
rs7000417	1.00[AMR][1000 genomes]
rs7001987	1.00[AMR][1000 genomes]
rs7003066	1.00[AMR][1000 genomes]
rs7013465	1.00[AMR][1000 genomes]
rs7014489	0.97[AFR][1000 genomes]
rs7816599	1.00[AMR][1000 genomes]
rs7817462	1.00[AMR][1000 genomes]
rs7822099	1.00[AMR][1000 genomes]
rs7831826	1.00[AMR][1000 genomes]
rs7833198	1.00[AMR][1000 genomes]
rs7837602	0.91[AFR][1000 genomes]
rs7840897	1.00[AMR][1000 genomes]
rs7844092	1.00[AMR][1000 genomes]
rs7844395	1.00[AMR][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	nsv1021581	chr8:38934014-39043954	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv1015907	chr8:38967169-39718559	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv539550	chr8:38967169-39718559	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1027443	chr8:38993423-39181079	Strong transcription ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv539551	chr8:38993423-39181079	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:38971200-39036400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:39016200-39025800	Weak transcription	Aorta	Aorta
3	chr8:39016200-39036200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr8:39016200-39036400	Weak transcription	Ovary	ovary
5	chr8:39018000-39019400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr8:39018000-39019400	Enhancers	HUVEC	blood vessel
7	chr8:39018200-39018800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:39018200-39019000	Enhancers	Osteobl	bone
9	chr8:39018200-39019200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:39018200-39019400	Enhancers	NH-A	brain
11	chr8:39018600-39018800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr8:39018600-39018800	Enhancers	Placenta Amnion	Placenta Amnion
13	chr8:39018600-39019000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr8:39018600-39019200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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