Variant report

Variant	rs391148
Chromosome Location	chr18:39921016-39921017
allele	A/G
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:39)

rs_ID	r²[population]
rs12958459	0.86[AMR][1000 genomes]
rs12958679	0.90[AMR][1000 genomes]
rs1841620	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1841621	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1993752	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2085909	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2335780	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34642158	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs346440	0.81[EUR][1000 genomes]
rs346448	0.86[EUR][1000 genomes]
rs346449	0.86[EUR][1000 genomes]
rs346451	0.86[EUR][1000 genomes]
rs365539	0.88[EUR][1000 genomes]
rs413718	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs414142	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs415805	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs415810	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs421436	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs428198	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs436343	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs449040	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs454565	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4621064	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs66967065	0.81[EUR][1000 genomes]
rs68001532	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7232300	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7232594	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7235999	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs7237280	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8085980	0.80[AMR][1000 genomes]
rs8090017	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs922266	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs976071	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9947788	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9947988	0.90[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9948169	0.90[AMR][1000 genomes]
rs9959948	0.89[AMR][1000 genomes]
rs9960132	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9964453	0.97[AMR][1000 genomes];0.92[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	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
2	nsv1059409	chr18:39711099-40139446	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:39916400-39921400	Enhancers	Liver	Liver
2	chr18:39916800-39922200	Enhancers	HepG2	liver
3	chr18:39917000-39923000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr18:39917200-39922000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr18:39918400-39921400	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr18:39919800-39921200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr18:39920200-39921600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr18:39920200-39922000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr18:39920200-39923400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr18:39920800-39922200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr18:39920800-39922800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr18:39921000-39921200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr18:39921000-39922000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr18:39921000-39922200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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