Variant report

Variant	rs7249800
Chromosome Location	chr19:42200301-42200302
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:42199149..42200978-chr19:42202401..42204371,2	K562	blood:
2	chr19:42199364..42201968-chr19:42204770..42207753,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 4 )

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

rs_ID	r²[population]
rs1005340	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10407999	0.81[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10409040	0.81[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.96[MKK][hapmap];0.93[ASN][1000 genomes]
rs10417970	0.93[ASN][1000 genomes]
rs10418202	0.93[ASN][1000 genomes]
rs1548725	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1548726	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2016070	0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs2016082	0.97[CHD][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs2191137	0.90[ASN][1000 genomes]
rs4239513	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4426458	0.95[ASN][1000 genomes]
rs4802126	0.94[ASN][1000 genomes]
rs4803494	0.97[CHD][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs4803495	0.93[CHD][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs4803501	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7248447	0.90[ASN][1000 genomes]
rs7248956	0.84[ASN][1000 genomes]
rs7249230	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];0.88[TSI][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8106661	0.90[ASN][1000 genomes]
rs9304598	0.95[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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7249800	ZNF229	cis	parietal	SCAN
rs7249800	SCAF1	cis	parietal	SCAN
rs7249800	IRF3	cis	cerebellum	SCAN
rs7249800	CBLC	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42192400-42200600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr19:42199400-42203400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:42200200-42202400	Enhancers	Pancreas	Pancrea

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