Variant report

Variant	rs11744529
Chromosome Location	chr5:89707745-89707746
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:89707357-89708312	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:89366544..89368641-chr5:89706586..89709368,2	K562	blood:
2	chr5:89701553..89708894-chr5:89768084..89771807,14	K562	blood:
3	chr5:89703250..89710229-chr5:89936398..89944611,13	K562	blood:
4	chr5:89704960..89708059-chr5:89823269..89827144,6	K562	blood:
5	chr5:89478032..89480920-chr5:89706398..89708148,2	K562	blood:
6	chr5:89704382..89708328-chr5:89852696..89856618,6	MCF-7	breast:
7	chr5:89706309..89708086-chr5:89715390..89717566,2	MCF-7	breast:
8	chr5:89706235..89707904-chr5:89940605..89942496,2	K562	blood:
9	chr5:68530475..68532147-chr5:89705204..89707833,2	MCF-7	breast:
10	chr5:89702524..89708084-chr5:89764247..89773389,22	K562	blood:
11	chr5:89701624..89708275-chr5:89936212..89939090,6	K562	blood:
12	chr5:89602779..89605252-chr5:89706386..89708061,2	MCF-7	breast:
13	chr5:89705215..89707825-chr5:90675292..90676863,3	K562	blood:
14	chr5:89704232..89708009-chr5:90677895..90680741,3	K562	blood:

No data

No data

No data

Variant related genes	Relation type
CETN3	TF binding region
ENSG00000113369	Chromatin interaction
ENSG00000176055	Chromatin interaction
ENSG00000176018	Chromatin interaction
ENSG00000113356	Chromatin interaction
ENSG00000164199	Chromatin interaction
ENSG00000134058	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10054133	0.94[EUR][1000 genomes]
rs10473933	0.84[EUR][1000 genomes]
rs10474325	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11953190	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11958751	0.82[YRI][hapmap]
rs2115501	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2963695	0.88[EUR][1000 genomes]
rs2972966	0.92[CEU][hapmap];0.91[EUR][1000 genomes]
rs4129345	0.92[CEU][hapmap];0.94[EUR][1000 genomes]
rs4131978	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57443165	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6884579	0.91[CEU][hapmap];0.80[YRI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72781070	0.98[EUR][1000 genomes]
rs72781074	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021142	chr5:89102893-89897826	Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv537804	chr5:89102893-89897826	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv917025	chr5:89208994-89855436	Enhancers Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv432750	chr5:89410113-90137144	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv432751	chr5:89457044-90090444	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv529544	chr5:89523963-90412409	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
7	nsv882363	chr5:89643399-89725515	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:89706600-89711200	Weak transcription	Small Intestine	intestine
2	chr5:89706600-89713800	Weak transcription	HSMM	muscle
3	chr5:89707000-89707800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:89707000-89707800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr5:89707200-89708000	Enhancers	A549	lung
6	chr5:89707600-89707800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr5:89707600-89707800	Active TSS	K562	blood
8	chr5:89707600-89708000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:89707600-89711800	Weak transcription	GM12878-XiMat	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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