Variant report

Variant	rs7491990
Chromosome Location	chr13:110385440-110385441
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12586052	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1537029	0.96[ASN][1000 genomes]
rs4773074	0.96[ASN][1000 genomes]
rs7317121	0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7324049	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs920008	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9521493	0.92[ASN][1000 genomes]
rs9521494	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9521495	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9521498	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9555629	0.88[EUR][1000 genomes];0.93[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	nsv1044855	chr13:110301572-110408608	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv826788	chr13:110381750-110469062	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv3340837	chr13:110384401-110386499	ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110378400-110386200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr13:110382000-110386000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr13:110382200-110388800	Weak transcription	Fetal Heart	heart
4	chr13:110382600-110389800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr13:110384400-110385800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr13:110384400-110386200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr13:110384400-110386400	ZNF genes & repeats	Fetal Thymus	thymus
8	chr13:110384400-110387400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr13:110384600-110387400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr13:110385400-110386600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr13:110385400-110388200	Enhancers	Dnd41	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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