Variant report

Variant	rs7322313
Chromosome Location	chr13:48410255-48410256
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2209380	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2897435	0.84[ASN][1000 genomes]
rs2897437	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4245345	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs753372	0.89[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs7982499	0.84[ASN][1000 genomes]
rs7990189	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7995548	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9562769	0.84[ASN][1000 genomes]
rs9567925	0.84[ASN][1000 genomes]
rs9567926	0.84[ASN][1000 genomes]
rs9567929	0.84[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	esv3510679	chr13:48236624-48498185	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv3510680	chr13:48236624-48498185	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv561589	chr13:48251736-48420218	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr13:48391400-48411200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr13:48404400-48412000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:48406200-48411000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr13:48407800-48410600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr13:48409600-48413200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr13:48409800-48410400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr13:48409800-48410400	Active TSS	Osteobl	bone
8	chr13:48410000-48410400	Enhancers	Placenta	Placenta
9	chr13:48410000-48410400	Active TSS	Hela-S3	cervix
10	chr13:48410000-48411200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr13:48410000-48411400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr13:48410000-48411600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr13:48410200-48411600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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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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