Variant report

Variant	rs1478790
Chromosome Location	chr17:20948698-20948699
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:20948417..20950134-chr17:20958471..20960661,2	MCF-7	breast:
2	chr17:20944792..20946565-chr17:20947999..20949921,2	K562	blood:
3	chr17:20944841..20947383-chr17:20948127..20950717,2	MCF-7	breast:
4	chr17:20947477..20948977-chr17:41381980..41383484,2	K562	blood:
5	chr17:20944908..20949288-chr17:21027831..21032603,8	MCF-7	breast:
6	chr17:20947477..20948977-chr17:41381959..41383484,3	K562	blood:

Variant related genes	Relation type
ENSG00000109016	Chromatin interaction
ENSG00000124422	Chromatin interaction
ENSG00000236383	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs28417257	1.00[EUR][1000 genomes]
rs28544372	1.00[EUR][1000 genomes]
rs28548984	1.00[EUR][1000 genomes]
rs28555976	1.00[EUR][1000 genomes]
rs28590301	1.00[EUR][1000 genomes]
rs28705738	1.00[EUR][1000 genomes]
rs28706545	1.00[EUR][1000 genomes]
rs28711112	1.00[EUR][1000 genomes]
rs28756004	1.00[EUR][1000 genomes]
rs4073723	1.00[EUR][1000 genomes]
rs4073724	1.00[EUR][1000 genomes]
rs55714915	1.00[EUR][1000 genomes]
rs55990927	1.00[EUR][1000 genomes]
rs57426028	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57971292	1.00[EUR][1000 genomes]
rs58152760	1.00[EUR][1000 genomes]
rs58546457	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59922030	1.00[EUR][1000 genomes]
rs60386298	1.00[EUR][1000 genomes]
rs61227646	1.00[EUR][1000 genomes]
rs61743471	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7211016	1.00[EUR][1000 genomes]
rs7211514	1.00[EUR][1000 genomes]
rs7215714	1.00[EUR][1000 genomes]
rs7219817	1.00[EUR][1000 genomes]
rs73982372	1.00[EUR][1000 genomes]
rs73982382	1.00[EUR][1000 genomes]
rs73982388	1.00[EUR][1000 genomes]
rs73982389	1.00[EUR][1000 genomes]
rs73982391	1.00[EUR][1000 genomes]
rs73982392	1.00[EUR][1000 genomes]
rs73982397	1.00[EUR][1000 genomes]
rs8067039	1.00[EUR][1000 genomes]
rs8068540	1.00[EUR][1000 genomes]
rs9890829	1.00[EUR][1000 genomes]
rs9893176	1.00[EUR][1000 genomes]
rs9900107	1.00[EUR][1000 genomes]
rs9901703	1.00[EUR][1000 genomes]
rs9902219	1.00[EUR][1000 genomes]
rs9906418	1.00[EUR][1000 genomes]
rs9907218	1.00[EUR][1000 genomes]
rs9912912	1.00[EUR][1000 genomes]
rs9913829	1.00[EUR][1000 genomes]
rs9914233	1.00[EUR][1000 genomes]
rs9915724	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	nsv949097	chr17:20801739-21406355	Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv529759	chr17:20839079-21529632	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv827917	chr17:20896100-20961777	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv827918	chr17:20941127-20951156	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
5	nsv827921	chr17:20943553-20951115	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20947800-20949000	Weak transcription	Brain Anterior Caudate	brain
2	chr17:20947800-20955000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr17:20947800-20955000	Weak transcription	Fetal Lung	lung
4	chr17:20947800-20955200	Weak transcription	Pancreas	Pancrea
5	chr17:20948200-20949600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr17:20948600-20948800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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