Variant report

Variant	rs12971712
Chromosome Location	chr19:42207816-42207817
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	chr19:42206272..42207887-chr19:42208137..42210800,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1001062	0.81[EUR][1000 genomes]
rs1001578	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10403308	0.88[CHB][hapmap]
rs10406899	0.83[ASN][1000 genomes]
rs10415317	0.83[CHB][hapmap]
rs10415946	0.83[CHB][hapmap]
rs10417322	0.82[ASN][1000 genomes]
rs10425443	0.83[CHB][hapmap]
rs10520341	0.80[EUR][1000 genomes]
rs11083637	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11673394	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11878239	0.83[CHB][hapmap]
rs11878262	0.82[CHB][hapmap]
rs12462395	0.80[EUR][1000 genomes]
rs12985771	0.83[CHB][hapmap]
rs1593086	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2002926	0.84[CHB][hapmap]
rs3764577	0.83[CHB][hapmap]
rs3764579	0.83[CHB][hapmap]
rs3928916	1.00[CHB][hapmap];0.94[JPT][hapmap];0.97[ASN][1000 genomes]
rs4802127	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4802129	0.83[CHB][hapmap]
rs4803503	0.83[ASN][1000 genomes]
rs4803506	0.84[CHB][hapmap]
rs7247317	0.88[ASN][1000 genomes]
rs7255070	0.84[CHB][hapmap]
rs748249	0.84[CHB][hapmap]

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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42203800-42210800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr19:42204800-42210800	Weak transcription	Esophagus	oesophagus
3	chr19:42205200-42210600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr19:42206000-42210800	Weak transcription	Pancreas	Pancrea
5	chr19:42206600-42210800	Weak transcription	Placenta	Placenta
6	chr19:42207400-42208600	Weak transcription	A549	lung
7	chr19:42207400-42210600	Weak transcription	Hela-S3	cervix

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