Variant report

Variant	rs28814444
Chromosome Location	chr9:101039788-101039789
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:100943812..100946692-chr9:101037813..101039836,2	K562	blood:
2	chr9:101039245..101044695-chr9:101044948..101050216,8	K562	blood:
3	chr9:101034358..101036194-chr9:101038260..101041518,3	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10114211	0.95[EUR][1000 genomes]
rs10985730	0.83[EUR][1000 genomes]
rs16914443	0.83[EUR][1000 genomes]
rs28578965	0.95[EUR][1000 genomes]
rs34562398	0.84[AMR][1000 genomes]
rs35173456	0.82[AMR][1000 genomes]
rs36074616	0.83[EUR][1000 genomes]
rs41273923	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4742725	1.00[EUR][1000 genomes]
rs55974101	1.00[EUR][1000 genomes]
rs57611604	1.00[EUR][1000 genomes]
rs58371820	1.00[EUR][1000 genomes]
rs59519660	1.00[EUR][1000 genomes]
rs61201457	0.83[EUR][1000 genomes]
rs73490714	0.83[EUR][1000 genomes]
rs73490718	0.83[EUR][1000 genomes]
rs73490720	0.83[EUR][1000 genomes]
rs73490723	0.83[EUR][1000 genomes]
rs73490727	0.83[EUR][1000 genomes]
rs73490728	0.83[EUR][1000 genomes]
rs7853312	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430085	chr9:100928245-101339645	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv831663	chr9:100941048-101109492	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1045780	chr9:100943318-101080389	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv540180	chr9:100943318-101080389	Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv831664	chr9:101024862-101205637	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv519818	chr9:101024887-101092316	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101037200-101043000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr9:101037200-101043200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:101037200-101051000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:101037800-101042600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr9:101039200-101039800	Flanking Active TSS	K562	blood
6	chr9:101039400-101039800	Enhancers	Fetal Intestine Small	intestine
7	chr9:101039600-101041200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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