Variant report

Variant	rs1005340
Chromosome Location	chr19:42201331-42201332
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	chr19:42199364..42201968-chr19:42204770..42207753,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10407999	0.94[ASN][1000 genomes]
rs10409040	0.91[ASN][1000 genomes]
rs10417970	0.91[ASN][1000 genomes]
rs10418202	0.91[ASN][1000 genomes]
rs1548725	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1548726	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2016070	0.89[ASN][1000 genomes]
rs2016082	0.89[ASN][1000 genomes]
rs2191137	0.89[ASN][1000 genomes]
rs4239513	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4426458	0.94[ASN][1000 genomes]
rs4802126	0.93[ASN][1000 genomes]
rs4803494	0.89[ASN][1000 genomes]
rs4803495	0.89[ASN][1000 genomes]
rs4803501	0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7248447	0.89[ASN][1000 genomes]
rs7248956	0.83[ASN][1000 genomes]
rs7249800	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8106661	0.89[ASN][1000 genomes]
rs9304598	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv1061309	chr19:42187716-42228445	Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42199400-42203400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:42200200-42202400	Enhancers	Pancreas	Pancrea
3	chr19:42200600-42202400	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
4	chr19:42200600-42203000	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr19:42200800-42201800	Enhancers	Colonic Mucosa	Colon

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