Variant report

Variant	rs17062048
Chromosome Location	chr6:133294400-133294401
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17062040	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17062051	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58301574	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs60885355	0.96[EUR][1000 genomes]
rs67273918	0.83[EUR][1000 genomes]
rs72556097	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7752691	0.96[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	nsv532069	chr6:132776411-133462292	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv428154	chr6:133271975-133522803	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:133289600-133294400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr6:133291200-133294400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr6:133291600-133294600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr6:133291600-133294600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr6:133291600-133294800	Weak transcription	Fetal Muscle Leg	muscle
6	chr6:133293600-133295200	Enhancers	Fetal Heart	heart
7	chr6:133293800-133295200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:133294000-133295000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:133294000-133295200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr6:133294000-133295400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr6:133294200-133295000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr6:133294200-133295000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr6:133294200-133295200	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr6:133294400-133295000	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr6:133294400-133295200	Enhancers	iPS-18 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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