Variant report

Variant	rs55754142
Chromosome Location	chr3:156167579-156167580
allele	A/C
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	MAFK	chr3:156167517-156168093	K562	blood:	n/a	chr3:156167674-156167689
2	MAFK	chr3:156167495-156168073	HepG2	liver:	n/a	chr3:156167674-156167689
3	MAFF	chr3:156167521-156167877	K562	blood:	n/a	chr3:156167673-156167691
4	CTCF	chr3:156167566-156168378	SK-N-SH	brain:	n/a	n/a
5	SMC3	chr3:156167575-156168389	SK-N-SH	brain:	n/a	n/a
6	RAD21	chr3:156167500-156168387	SK-N-SH	brain:	n/a	n/a
7	MAFF	chr3:156167525-156168008	HepG2	liver:	n/a	chr3:156167673-156167691
8	MAFK	chr3:156167517-156168028	IMR90	lung:	n/a	chr3:156167674-156167689
9	CTCF	chr3:156167530-156168345	A549	lung:	n/a	n/a
10	CTCF	chr3:156167540-156167690	GM12874	blood:	n/a	n/a
11	MAFK	chr3:156167516-156168089	HepG2	liver:	n/a	chr3:156167674-156167689

No.	Distal block	Cell Line	Cell type
1	chr3:156166581..156169828-chr3:156169890..156173085,3	K562	blood:
2	chr3:156165868..156167744-chr3:156256177..156258339,2	K562	blood:
3	chr3:156166753..156169667-chr3:156173519..156175055,2	K562	blood:
4	chr3:156100005..156100933-chr3:156167530..156168472,4	MCF-7	breast:
5	chr3:155867887..155868494-chr3:156167558..156168383,2	MCF-7	breast:
6	chr3:156166346..156168652-chr3:156168846..156171078,2	MCF-7	breast:
7	chr3:156167496..156168267-chr3:156192060..156193012,2	MCF-7	breast:
8	chr3:156105641..156107748-chr3:156165114..156167904,2	MCF-7	breast:

Variant related genes	Relation type
KCNAB1-AS1	TF binding region
ENSG00000169282	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10428085	0.83[EUR][1000 genomes]
rs10428230	0.80[EUR][1000 genomes]
rs10428233	0.94[EUR][1000 genomes]
rs11922703	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11922769	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13317461	0.83[EUR][1000 genomes]
rs13317645	0.83[EUR][1000 genomes]
rs13324719	0.83[EUR][1000 genomes]
rs13324766	0.81[EUR][1000 genomes]
rs13324809	0.83[EUR][1000 genomes]
rs16826198	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16826199	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16826202	0.94[EUR][1000 genomes]
rs3732515	0.96[EUR][1000 genomes]
rs3732516	0.83[EUR][1000 genomes]
rs3755631	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3821423	0.83[EUR][1000 genomes]
rs4574239	0.83[EUR][1000 genomes]
rs55671429	0.87[EUR][1000 genomes]
rs55754499	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55896573	0.96[EUR][1000 genomes]
rs56059225	0.94[EUR][1000 genomes]
rs56261626	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56762981	0.94[EUR][1000 genomes]
rs61147236	0.83[EUR][1000 genomes]
rs6772280	0.83[EUR][1000 genomes]
rs6789361	0.88[ASN][1000 genomes]
rs6797169	0.92[EUR][1000 genomes]
rs6797279	0.83[EUR][1000 genomes]
rs73873371	0.92[EUR][1000 genomes]
rs73873379	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73873383	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7650612	0.83[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014755	chr3:155889430-156411894	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:156162200-156169400	Weak transcription	Aorta	Aorta
2	chr3:156162600-156174800	Weak transcription	Brain Hippocampus Middle	brain
3	chr3:156162800-156167600	Weak transcription	Brain Cingulate Gyrus	brain
4	chr3:156162800-156168200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr3:156162800-156169000	Weak transcription	Colon Smooth Muscle	Colon
6	chr3:156164000-156168800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr3:156164200-156167600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:156166000-156167800	Weak transcription	Brain Germinal Matrix	brain
9	chr3:156166600-156167600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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