Variant report

Variant	rs55633111
Chromosome Location	chr17:20948193-20948194
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:20944673..20948329-chr17:21154326..21157645,3	K562	blood:
2	chr17:20945209..20948329-chr17:21154326..21158276,3	K562	blood:
3	chr17:20944286..20948317-chr17:21114820..21119740,4	K562	blood:
4	chr17:20944792..20946565-chr17:20947999..20949921,2	K562	blood:
5	chr17:20944841..20947383-chr17:20948127..20950717,2	MCF-7	breast:
6	chr17:20947477..20948977-chr17:41381980..41383484,2	K562	blood:
7	chr17:20944908..20949288-chr17:21027831..21032603,8	MCF-7	breast:
8	chr17:20947477..20948977-chr17:41381959..41383484,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000236383	Chromatin interaction
ENSG00000154035	Chromatin interaction
ENSG00000178307	Chromatin interaction
ENSG00000124422	Chromatin interaction
ENSG00000235530	Chromatin interaction
ENSG00000109016	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10153263	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10512422	0.90[EUR][1000 genomes]
rs12452171	0.91[EUR][1000 genomes]
rs12937950	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12947514	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16962364	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1871275	0.93[EUR][1000 genomes]
rs2127096	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2886049	0.88[EUR][1000 genomes]
rs57522885	0.94[EUR][1000 genomes]
rs6587113	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6587116	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs66487709	0.91[EUR][1000 genomes]
rs66516868	0.94[EUR][1000 genomes]
rs719094	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73303698	0.92[EUR][1000 genomes]
rs8072149	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs8080321	0.94[EUR][1000 genomes]
rs984007	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9893047	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9895277	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9907786	0.87[EUR][1000 genomes]
rs9909279	0.90[EUR][1000 genomes]
rs9914758	0.87[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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20947600-20948200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr17:20947600-20948200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr17:20947600-20948400	Enhancers	Primary B cells from cord blood	blood
4	chr17:20947600-20948600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr17:20947800-20948200	Enhancers	Brain Germinal Matrix	brain
6	chr17:20947800-20948400	Enhancers	K562	blood
7	chr17:20947800-20948600	Enhancers	Dnd41	blood
8	chr17:20947800-20949000	Weak transcription	Brain Anterior Caudate	brain
9	chr17:20947800-20955000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr17:20947800-20955000	Weak transcription	Fetal Lung	lung
11	chr17:20947800-20955200	Weak transcription	Pancreas	Pancrea
12	chr17:20948000-20948200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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