Variant report

Variant	rs17460074
Chromosome Location	chr1:57916599-57916600
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12401405	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12410761	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1394396	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17115761	1.00[ASW][hapmap];1.00[AFR][1000 genomes]
rs17116134	1.00[ASW][hapmap]
rs60311519	1.00[ASN][1000 genomes]
rs72676921	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72676927	1.00[ASN][1000 genomes]
rs72676933	1.00[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	nsv817216	chr1:57801783-58130775	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1001771	chr1:57837089-58068175	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv870908	chr1:57884310-58037783	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57915600-57917800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr1:57915800-57917400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:57916000-57917400	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr1:57916000-57917800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
5	chr1:57916200-57917000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:57916200-57917800	Enhancers	H1 Cell Line	embryonic stem cell
7	chr1:57916200-57917800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
8	chr1:57916400-57917400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr1:57916400-57917400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:57916400-57917400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr1:57916400-57917400	Enhancers	iPS-20b 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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