Variant report

Variant	rs60047677
Chromosome Location	chr18:39156194-39156195
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10502769	0.91[EUR][1000 genomes]
rs16974995	0.91[EUR][1000 genomes]
rs16974999	0.91[EUR][1000 genomes]
rs16975000	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16975004	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16975007	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16975012	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16975017	0.81[EUR][1000 genomes]
rs1942065	0.81[AMR][1000 genomes]
rs35462279	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56341064	0.91[EUR][1000 genomes]
rs7229794	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72903968	0.82[EUR][1000 genomes]
rs72903976	0.89[EUR][1000 genomes]
rs72903977	0.89[EUR][1000 genomes]
rs72903981	0.89[EUR][1000 genomes]
rs72903982	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72903987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72903996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905903	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905906	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905909	0.89[EUR][1000 genomes]
rs72905911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72905915	0.84[EUR][1000 genomes]
rs72905923	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72905924	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs72905948	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv909564	chr18:38739067-39179256	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1066869	chr18:38742896-39680723	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv543685	chr18:38742896-39680723	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv2267	chr18:39123940-39169583	Enhancers Weak transcription Strong transcription Flanking Active TSS	lncRNA	n/a	inside rSNPs	diseases
5	nsv949609	chr18:39126941-40070286	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 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	chr18:39139000-39156800	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr18:39142600-39156600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr18:39150400-39161400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr18:39154400-39158200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr18:39154800-39157200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr18:39155800-39156800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr18:39155800-39157800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr18:39155800-39158200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr18:39156000-39157200	Enhancers	HUES64 Cell Line	embryonic stem cell

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