Variant report

Variant	rs9985807
Chromosome Location	chr4:69889522-69889523
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10008743	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10009634	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10014355	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10030409	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10050146	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10213292	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28375844	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28410179	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28454605	0.96[EUR][1000 genomes]
rs28458345	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28462361	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28472596	1.00[EUR][1000 genomes]
rs28535667	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28539948	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28578474	0.96[EUR][1000 genomes]
rs28637446	1.00[EUR][1000 genomes]
rs28675300	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28678018	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28678791	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28684869	0.96[EUR][1000 genomes]
rs28685210	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28726088	0.84[EUR][1000 genomes]
rs28754965	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs28821804	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28890225	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34661811	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4299663	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4412057	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56028004	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57913007	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs59592861	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60930838	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72855405	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73823805	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73823851	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73823857	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73823859	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73823860	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73826062	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9993579	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9995928	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9999964	0.86[AMR][1000 genomes];0.96[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	nsv1005513	chr4:69446718-69890307	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv999654	chr4:69661415-70132110	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	esv3420586	chr4:69680878-70322918	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	nsv1067773	chr4:69718248-70715727	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	esv3468151	chr4:69718675-70322776	Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	esv3468153	chr4:69718675-70322776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
7	nsv829962	chr4:69786869-69910283	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv594582	chr4:69827340-69988378	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	esv2757064	chr4:69863174-69901607	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv980213	chr4:69870183-69893292	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv879379	chr4:69878929-69987249	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69886000-69889800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr4:69886000-69891000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr4:69886200-69889800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr4:69886200-69893000	Enhancers	HepG2	liver
5	chr4:69887200-69890800	Weak transcription	Fetal Intestine Large	intestine
6	chr4:69887400-69891200	Weak transcription	A549	lung
7	chr4:69889000-69889600	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr4:69889200-69889600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
9	chr4:69889200-69889800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr4:69889400-69890800	Weak transcription	Liver	Liver

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