Variant report

Variant	rs362985
Chromosome Location	chr6:146659486-146659487
allele	C/T
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	GATA2	chr6:146658958-146659767	HUVEC	blood vessel:	n/a	chr6:146659705-146659717 chr6:146659708-146659715 chr6:146659706-146659715 chr6:146659706-146659716 chr6:146659708-146659718
2	FOS	chr6:146659467-146659543	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
RNA5SP222	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1016600	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1555084	0.96[ASN][1000 genomes]
rs17075850	0.96[EUR][1000 genomes]
rs2223773	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2300617	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs362831	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs362834	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs362835	0.95[ASN][1000 genomes]
rs362946	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs362962	0.99[ASN][1000 genomes]
rs4479958	0.96[EUR][1000 genomes]
rs4538735	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4607452	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs6570747	0.82[ASN][1000 genomes]
rs6570752	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs6570753	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6570754	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6570755	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6909071	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6921530	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6929180	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6942277	0.96[ASN][1000 genomes]
rs7767227	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9322050	0.89[CHB][hapmap];0.93[JPT][hapmap]
rs941901	0.99[ASN][1000 genomes]
rs9497519	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv604839	chr6:146305810-146828922	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1033913	chr6:146572989-147092365	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv538466	chr6:146572989-147092365	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:146657000-146661600	Enhancers	HUVEC	blood vessel
2	chr6:146657600-146660000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:146657600-146660000	Enhancers	Fetal Brain Male	brain
4	chr6:146657800-146659800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:146658000-146660800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:146658200-146661000	Enhancers	Psoas Muscle	Psoas
7	chr6:146658400-146660800	Weak transcription	Brain Hippocampus Middle	brain
8	chr6:146658400-146660800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr6:146658800-146660000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr6:146659000-146659800	Enhancers	Hela-S3	cervix
11	chr6:146659200-146659800	Enhancers	Fetal Heart	heart
12	chr6:146659400-146660000	Enhancers	Fetal Muscle Leg	muscle
13	chr6:146659400-146660800	Weak transcription	Muscle Satellite Cultured Cells	--

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