Variant report

Variant	rs1625595
Chromosome Location	chr11:66078129-66078130
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:66076659-66086103	IMR90	lung:	n/a	n/a
2	FOSL1	chr11:66077803-66078130	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:66077296..66081246-chr11:66109722..66112526,4	K562	blood:
2	chr11:66077376..66081785-chr11:66101114..66107038,7	MCF-7	breast:
3	chr11:66070320..66072378-chr11:66078030..66080225,2	K562	blood:
4	chr11:66064946..66066447-chr11:66077154..66079441,2	K562	blood:
5	chr11:66077617..66079568-chr11:66109722..66112583,2	K562	blood:
6	chr11:66077239..66082197-chr11:66111995..66115447,5	MCF-7	breast:
7	chr11:66053947..66059144-chr11:66077550..66083439,18	K562	blood:

No data

No data

No data

Variant related genes	Relation type
ENSG00000254458	TF binding region
ENSG00000174851	Chromatin interaction
ENSG00000174791	Chromatin interaction
ENSG00000255468	Chromatin interaction
ENSG00000174744	Chromatin interaction
ENSG00000254756	Chromatin interaction
ENSG00000174684	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1783730	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3741367	0.82[CEU][hapmap]
rs4930351	0.90[ASN][1000 genomes]
rs4930352	0.91[ASN][1000 genomes]
rs509533	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs523583	0.82[CEU][hapmap]
rs551243	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][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	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
5	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66064800-66079200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr11:66077400-66078600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr11:66077400-66079200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:66077400-66079200	Enhancers	K562	blood
5	chr11:66077600-66078600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:66077600-66078600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr11:66077600-66079400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:66077800-66079000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr11:66078000-66078200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
10	chr11:66078000-66078200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:66078000-66078400	Bivalent Enhancer	HepG2	liver

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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