Variant report

Variant	rs8083506
Chromosome Location	chr18:39300226-39300227
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10502773	0.83[ASN][1000 genomes]
rs11876458	0.84[EUR][1000 genomes]
rs11876486	1.00[ASN][1000 genomes]
rs11877516	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11877563	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11877634	1.00[ASN][1000 genomes]
rs1368834	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1433927	0.83[ASN][1000 genomes]
rs16975029	0.83[ASN][1000 genomes]
rs16975044	0.83[ASN][1000 genomes]
rs16975046	0.83[ASN][1000 genomes]
rs16975098	0.83[ASN][1000 genomes]
rs16975121	0.83[ASN][1000 genomes]
rs16975136	0.83[ASN][1000 genomes]
rs16975169	0.92[ASN][1000 genomes]
rs16975177	1.00[ASN][1000 genomes]
rs16975178	1.00[ASN][1000 genomes]
rs16975193	1.00[ASN][1000 genomes]
rs16975195	1.00[ASN][1000 genomes]
rs16975198	1.00[ASN][1000 genomes]
rs16975205	1.00[ASN][1000 genomes]
rs16975215	1.00[ASN][1000 genomes]
rs16975217	1.00[ASN][1000 genomes]
rs2315173	0.83[ASN][1000 genomes]
rs35109437	0.83[ASN][1000 genomes]
rs35647859	0.83[ASN][1000 genomes]
rs57258988	1.00[ASN][1000 genomes]
rs57308985	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6507427	0.83[ASN][1000 genomes]
rs6507430	1.00[ASN][1000 genomes]
rs6507431	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6650668	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67050670	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7226510	0.83[ASN][1000 genomes]
rs7239815	0.83[ASN][1000 genomes]
rs7242858	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs734169	1.00[ASN][1000 genomes]
rs73450790	0.83[ASN][1000 genomes]
rs73456734	1.00[ASN][1000 genomes]
rs767719	0.92[ASN][1000 genomes]
rs8083650	1.00[ASN][1000 genomes]
rs8084213	1.00[ASN][1000 genomes]
rs8085338	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8089279	1.00[ASN][1000 genomes]
rs8099746	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv431979	chr18:39255558-39696452	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 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	chr18:39295600-39301000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr18:39296000-39300800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr18:39299200-39300600	Enhancers	Hela-S3	cervix
4	chr18:39299200-39302800	Enhancers	Fetal Heart	heart
5	chr18:39299400-39301200	Enhancers	HUVEC	blood vessel
6	chr18:39299400-39302000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr18:39300000-39302000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr18:39300200-39301400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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