Variant report

Variant	rs16974995
Chromosome Location	chr18:39150324-39150325
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10163840	0.83[ASN][1000 genomes]
rs10163854	0.83[ASN][1000 genomes]
rs10502769	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10502770	0.83[ASN][1000 genomes]
rs10502771	0.83[ASN][1000 genomes]
rs16974999	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16975010	0.83[ASN][1000 genomes]
rs16975021	0.83[ASN][1000 genomes]
rs16975022	0.83[ASN][1000 genomes]
rs16975025	0.83[ASN][1000 genomes]
rs1942063	0.83[ASN][1000 genomes]
rs1942069	0.83[ASN][1000 genomes]
rs1942070	0.83[ASN][1000 genomes]
rs55797333	0.83[ASN][1000 genomes]
rs56341064	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56812327	0.83[ASN][1000 genomes]
rs57249168	0.83[ASN][1000 genomes]
rs60047677	0.91[EUR][1000 genomes]
rs7229794	0.87[EUR][1000 genomes]
rs72903960	0.82[EUR][1000 genomes]
rs72903968	0.90[EUR][1000 genomes]
rs72903976	0.99[EUR][1000 genomes]
rs72903977	0.99[EUR][1000 genomes]
rs72903981	0.99[EUR][1000 genomes]
rs72903982	0.89[EUR][1000 genomes]
rs72903987	0.91[EUR][1000 genomes]
rs72903996	0.91[EUR][1000 genomes]
rs72905903	0.91[EUR][1000 genomes]
rs72905904	0.91[EUR][1000 genomes]
rs72905906	0.91[EUR][1000 genomes]
rs72905909	0.99[EUR][1000 genomes]
rs72905911	0.85[EUR][1000 genomes]
rs72905963	0.83[ASN][1000 genomes]
rs72905965	0.83[ASN][1000 genomes]
rs72905967	0.83[ASN][1000 genomes]
rs72905979	0.83[ASN][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:8 , 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	chr18:39144000-39155800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr18:39149800-39150400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr18:39150000-39150400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr18:39150000-39154800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr18:39150200-39150400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr18:39150200-39150400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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