Variant report

Variant	rs10424853
Chromosome Location	chr19:40198932-40198933
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:40187755..40190590-chr19:40198556..40200389,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000240320	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10402453	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10402840	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs10415800	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10420367	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs10423105	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs10426447	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs16973564	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs16973571	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16973572	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16973576	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs28414506	0.85[AMR][1000 genomes]
rs28491346	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs28631884	0.84[AFR][1000 genomes]
rs28873117	0.92[AMR][1000 genomes]
rs4514805	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58503187	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs58988184	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60598133	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs73555896	0.85[AMR][1000 genomes]
rs73557809	0.81[AFR][1000 genomes]
rs73557816	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73557827	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73557829	0.85[AMR][1000 genomes]
rs73557856	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs8112575	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
7	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
8	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
9	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
10	esv3329492	chr19:40198535-40437035	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40195600-40199400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr19:40197200-40200800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr19:40197400-40200600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr19:40197600-40200000	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr19:40197800-40200600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr19:40197800-40200600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr19:40198000-40200800	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr19:40198600-40200200	Flanking Active TSS	GM12878-XiMat	blood
9	chr19:40198800-40199400	Weak transcription	Placenta	Placenta

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