Variant report

Variant	rs9304598
Chromosome Location	chr19:42196163-42196164
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:42194789-42196858	A549	lung:	n/a	chr19:42195489-42195502 chr19:42195333-42195346 chr19:42195487-42195505

No.	Distal block	Cell Line	Cell type
1	chr19:42194707..42197200-chr19:42201363..42204085,2	MCF-7	breast:
2	chr19:42187020..42188703-chr19:42193918..42196262,2	K562	blood:
3	chr19:42147580..42148927-chr19:42194859..42196377,8	MCF-7	breast:

Variant related genes	Relation type
CEACAM7	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1005340	0.94[ASN][1000 genomes]
rs1015758	0.90[EUR][1000 genomes]
rs10407999	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10409040	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10417599	0.89[EUR][1000 genomes]
rs10417970	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10418202	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11083636	0.82[AMR][1000 genomes]
rs1122493	0.83[EUR][1000 genomes]
rs1548725	0.90[ASN][1000 genomes]
rs1548726	0.90[ASN][1000 genomes]
rs1860328	0.87[EUR][1000 genomes]
rs2016070	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2016082	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2052080	0.83[EUR][1000 genomes]
rs2191137	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4239513	0.90[ASN][1000 genomes]
rs4426458	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4802126	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4803494	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4803495	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4803501	0.95[ASN][1000 genomes]
rs6508988	0.89[EUR][1000 genomes]
rs7248447	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7248956	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7249800	0.95[ASN][1000 genomes]
rs8106661	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8110064	0.88[EUR][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: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	chr19:42195400-42198200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:42195600-42199600	Weak transcription	Pancreas	Pancrea

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