Variant report

Variant	rs4942694
Chromosome Location	chr13:48347709-48347710
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12429525	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12430596	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17337616	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2224914	0.92[EUR][1000 genomes]
rs4119501	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4119502	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4941603	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4941604	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4941609	1.00[ASN][1000 genomes]
rs4942691	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4942692	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57427955	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57463101	0.80[AMR][1000 genomes]
rs59890896	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61972192	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7324490	0.92[EUR][1000 genomes]
rs73479092	0.84[AFR][1000 genomes]
rs7981324	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7982387	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7986517	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7988528	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7989376	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7999699	0.93[EUR][1000 genomes]
rs9526394	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9526397	0.84[EUR][1000 genomes]
rs9534771	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9534812	1.00[ASN][1000 genomes]
rs9534822	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9534830	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3510679	chr13:48236624-48498185	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv3510680	chr13:48236624-48498185	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv561589	chr13:48251736-48420218	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48347000-48347800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
2	chr13:48347000-48348200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr13:48347000-48348400	Enhancers	H9 Cell Line	embryonic stem cell
4	chr13:48347200-48347800	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr13:48347200-48347800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr13:48347200-48348200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr13:48347200-48348400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr13:48347400-48349800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr13:48347600-48348400	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr13:48347600-48348400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr13:48347600-48348800	Enhancers	Hela-S3	cervix

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