Variant report

Variant	rs8101919
Chromosome Location	chr19:40187777-40187778
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:40187620-40187890	A549	lung:	n/a	n/a
2	USF2	chr19:40187655-40187851	Hela-S3	cervix:	n/a	chr19:40187814-40187825

Variant related genes	Relation type
ENSG00000240320	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1034995	0.92[CEU][hapmap];0.92[EUR][1000 genomes]
rs10402500	0.92[EUR][1000 genomes]
rs10406233	0.89[EUR][1000 genomes]
rs10407799	0.92[CEU][hapmap];0.97[EUR][1000 genomes]
rs10409161	0.92[EUR][1000 genomes]
rs10422830	0.91[EUR][1000 genomes]
rs11666249	0.89[EUR][1000 genomes]
rs11879717	0.97[EUR][1000 genomes]
rs11882595	0.97[EUR][1000 genomes]
rs12979857	0.97[EUR][1000 genomes]
rs1990235	0.89[EUR][1000 genomes]
rs2108686	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs34877480	0.97[EUR][1000 genomes]
rs35541195	0.97[EUR][1000 genomes]
rs375688	0.91[CEU][hapmap];0.92[EUR][1000 genomes]
rs385563	0.94[EUR][1000 genomes]
rs389708	0.94[EUR][1000 genomes]
rs390406	0.91[CEU][hapmap];0.86[EUR][1000 genomes]
rs403831	0.91[EUR][1000 genomes]
rs410034	0.97[EUR][1000 genomes]
rs412211	0.91[CEU][hapmap];0.92[EUR][1000 genomes]
rs413216	0.92[CEU][hapmap];0.94[EUR][1000 genomes]
rs420297	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs57954673	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58029135	0.97[EUR][1000 genomes]
rs71356865	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs71356870	0.97[EUR][1000 genomes]
rs7248035	0.89[EUR][1000 genomes]
rs7253554	1.00[CEU][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7254020	0.89[EUR][1000 genomes]
rs886993	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057361	chr19:40123868-40310996	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1061361	chr19:40131820-40310996	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv579511	chr19:40132825-40310497	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1062394	chr19:40133229-40310186	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv544004	chr19:40133229-40310186	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	esv3355956	chr19:40135051-40188792	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	esv3998	chr19:40135120-40188646	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	esv3397881	chr19:40150495-40199437	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1059691	chr19:40168862-40306373	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv544005	chr19:40168862-40306373	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	esv3332670	chr19:40181720-40297955	Active TSS Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40171200-40189000	Weak transcription	Psoas Muscle	Psoas
2	chr19:40184400-40188000	Enhancers	HepG2	liver
3	chr19:40186400-40188400	Enhancers	Placenta	Placenta
4	chr19:40187400-40187800	Weak transcription	GM12878-XiMat	blood

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