Variant report

Variant	rs4426458
Chromosome Location	chr19:42187491-42187492
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	chr19:42187020..42188703-chr19:42193918..42196262,2	K562	blood:
2	chr19:42185660..42188707-chr19:42191136..42193889,3	K562	blood:

Variant related genes	Relation type
ENSG00000007306	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1005340	0.94[ASN][1000 genomes]
rs1015758	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10407999	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10409040	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10417599	0.87[EUR][1000 genomes]
rs10417970	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10418202	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11083636	0.82[AMR][1000 genomes]
rs1122493	0.81[EUR][1000 genomes]
rs1548725	0.90[ASN][1000 genomes]
rs1548726	0.90[ASN][1000 genomes]
rs1860328	0.85[EUR][1000 genomes]
rs2016070	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2016082	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2052080	0.81[EUR][1000 genomes]
rs2191137	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4239513	0.90[ASN][1000 genomes]
rs4802126	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4803494	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4803495	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4803501	0.95[ASN][1000 genomes]
rs6508988	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7248447	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7248956	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7249800	0.95[ASN][1000 genomes]
rs8106661	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8110064	0.87[EUR][1000 genomes]
rs9304598	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3319146	chr19:42082639-42212929	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv3319147	chr19:42082742-42212770	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv3422975	chr19:42106166-42212774	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
5	esv12262	chr19:42186492-42191707	Active TSS Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv960841	chr19:42187294-42188294	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv442464	chr19:42187340-42191295	Active TSS Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42185800-42187800	Enhancers	Colonic Mucosa	Colon
2	chr19:42186400-42188400	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr19:42187200-42188000	Weak transcription	Rectal Mucosa Donor 29	rectum

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