Variant report

Variant	rs7294447
Chromosome Location	chr12:58017131-58017132
allele	C/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:10)
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	BCL3	chr12:58017060-58019246	A549	lung:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:58015127..58017483-chr12:58164900..58167382,2	K562	blood:
2	chr12:58007372..58011848-chr12:58013286..58019253,6	MCF-7	breast:
3	chr12:57908723..57911184-chr12:58015382..58017186,3	K562	blood:
4	chr12:58016846..58018792-chr12:58129433..58131831,2	K562	blood:
5	chr12:58015983..58018978-chr12:58164900..58166825,2	K562	blood:
6	chr12:58015842..58017854-chr12:58020361..58022669,3	MCF-7	breast:
7	chr12:57911911..57916321-chr12:58013702..58018076,7	K562	blood:
8	chr12:57976679..57977833-chr12:58015073..58017142,20	MCF-7	breast:
9	chr12:57992028..57994332-chr12:58015405..58017173,2	MCF-7	breast:
10	chr12:57912625..57916215-chr12:58016074..58021603,6	K562	blood:

No data

No data

No data

Variant related genes	Relation type
SLC26A10	TF binding region
ENSG00000224713	TF binding region
ENSG00000123427	Chromatin interaction
ENSG00000135454	Chromatin interaction
ENSG00000166908	Chromatin interaction
ENSG00000257921	Chromatin interaction
ENSG00000166987	Chromatin interaction
ENSG00000166986	Chromatin interaction
ENSG00000240771	Chromatin interaction
ENSG00000175197	Chromatin interaction
ENSG00000208028	Chromatin interaction
ENSG00000224713	Chromatin interaction
ENSG00000135452	Chromatin interaction
ENSG00000135439	Chromatin interaction
ENSG00000037897	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11172270	1.00[JPT][hapmap];0.83[YRI][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12578587	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28620262	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73346100	1.00[EUR][1000 genomes]
rs7960103	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7966948	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7977683	0.91[ASN][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	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
2	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
3	nsv541504	chr12:57958701-58062311	Bivalent Enhancer Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 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	chr12:58011600-58018000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:58011800-58018800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:58012000-58019000	Weak transcription	Aorta	Aorta
4	chr12:58015600-58017200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:58015600-58021400	Weak transcription	Gastric	stomach
6	chr12:58015800-58017800	Weak transcription	Left Ventricle	heart
7	chr12:58016000-58019600	Weak transcription	A549	lung
8	chr12:58016000-58020000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:58016000-58021200	Weak transcription	Pancreas	Pancrea
10	chr12:58016200-58018600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:58016200-58020000	Weak transcription	Spleen	Spleen
12	chr12:58016200-58021400	Weak transcription	Right Ventricle	heart
13	chr12:58017000-58025000	Weak transcription	K562	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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