Variant report

Variant	rs507280
Chromosome Location	chr6:117628851-117628852
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs13197910	0.94[CEU][hapmap];1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs13201929	0.87[AFR][1000 genomes]
rs17632578	1.00[ASW][hapmap]
rs1894674	1.00[LWK][hapmap]
rs1931227	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2301485	1.00[LWK][hapmap]
rs34228274	0.87[AFR][1000 genomes]
rs34262053	0.87[AFR][1000 genomes]
rs35829151	0.87[AFR][1000 genomes]
rs497186	1.00[ASW][hapmap];1.00[LWK][hapmap]
rs526306	0.94[CEU][hapmap];1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs528633	1.00[ASW][hapmap];1.00[LWK][hapmap]
rs554017	1.00[ASW][hapmap];0.94[CEU][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap];0.87[EUR][1000 genomes]
rs587575	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv948766	chr6:117407275-117641016	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv532050	chr6:117528154-118203005	ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117612000-117630200	Weak transcription	HSMM	muscle
2	chr6:117620800-117629800	Weak transcription	HSMMtube	muscle
3	chr6:117625800-117646600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:117626000-117629000	Weak transcription	Psoas Muscle	Psoas
5	chr6:117627600-117629200	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr6:117627800-117635000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:117628000-117630200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr6:117628000-117643800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:117628600-117629200	Enhancers	Skeletal Muscle Female	skeletal muscle

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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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