Variant report

Variant	rs12981507
Chromosome Location	chr19:38748270-38748271
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:38746686..38748655-chr19:38804241..38806513,3	K562	blood:
2	chr19:38746268..38748708-chr19:38755363..38757878,2	K562	blood:
3	chr19:38746246..38748291-chr19:38825736..38828521,3	K562	blood:
4	chr19:38745286..38748830-chr19:38824490..38828580,5	K562	blood:
5	chr19:38742913..38745096-chr19:38748153..38750106,2	MCF-7	breast:
6	chr19:38746268..38750016-chr19:38754499..38757878,4	K562	blood:
7	chr19:38747172..38749523-chr19:38863877..38866599,2	K562	blood:
8	chr19:38747605..38752989-chr19:38753331..38756303,6	MCF-7	breast:
9	chr19:38746183..38748575-chr19:38806704..38809483,2	K562	blood:

No data

No data

No data

Variant related genes	Relation type
ENSG00000099341	Chromatin interaction
ENSG00000099338	Chromatin interaction
ENSG00000167645	Chromatin interaction
ENSG00000167641	Chromatin interaction
ENSG00000167642	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12975244	0.86[ASN][1000 genomes]
rs12983492	0.86[ASN][1000 genomes]
rs35946591	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3786872	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949296	chr19:38034722-38763140	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv833821	chr19:38629937-38756792	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv911657	chr19:38655449-38753786	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv1063471	chr19:38734744-39148392	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	73 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:38747600-38753600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:38747600-38754200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr19:38747800-38752200	Weak transcription	Placenta	Placenta
4	chr19:38748000-38748800	Weak transcription	A549	lung
5	chr19:38748000-38750000	Weak transcription	Fetal Intestine Large	intestine
6	chr19:38748000-38753400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr19:38748000-38753400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr19:38748000-38753400	Weak transcription	K562	blood
9	chr19:38748000-38753600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr19:38748000-38754400	Weak transcription	Placenta Amnion	Placenta Amnion

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Input of quick search could be:

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

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