Variant report

Variant	rs12057778
Chromosome Location	chr1:173657051-173657052
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10798295	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs10912660	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10912676	0.85[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs12067170	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12075071	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12092383	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1322770	0.85[AFR][1000 genomes]
rs4606360	0.81[ASN][1000 genomes]
rs57592568	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7542910	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7544605	0.85[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs7552939	0.90[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs9425755	0.84[AFR][1000 genomes]
rs969029	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9803671	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012384	chr1:173614816-173974426	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
2	nsv1014827	chr1:173653453-173692470	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr1:173639000-173657200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:173651800-173657400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:173655800-173657200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr1:173655800-173657400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr1:173655800-173657400	Weak transcription	K562	blood
6	chr1:173656800-173657600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr1:173656800-173657800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr1:173656800-173658600	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr1:173657000-173657400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr1:173657000-173657600	Enhancers	HUES64 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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