Variant report

Variant	rs73749521
Chromosome Location	chr5:14641154-14641155
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	chr5:14640901-14641209	H1-hESC	embryonic stem cell:	n/a	n/a
2	RAD21	chr5:14640770-14641261	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr5:14640869-14641176	H1-hESC	embryonic stem cell:	n/a	n/a
4	RAD21	chr5:14640888-14641238	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr5:14641020-14641170	K562	blood:	n/a	n/a
6	RAD21	chr5:14640913-14641220	H1-hESC	embryonic stem cell:	n/a	n/a
7	ZNF143	chr5:14640973-14641173	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr5:14640982-14641177	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr5:14641040-14641190	NHEK	skin:	n/a	n/a
10	ZBTB7A	chr5:14641011-14641157	K562	blood:	n/a	n/a

Variant related genes	Relation type
CCT6P2	TF binding region

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

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11952550	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11953822	1.00[AMR][1000 genomes]
rs11956097	1.00[AMR][1000 genomes]
rs16903651	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55714227	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55957515	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56044433	1.00[AMR][1000 genomes]
rs56155042	1.00[AMR][1000 genomes]
rs56297478	1.00[AMR][1000 genomes]
rs56350972	1.00[AMR][1000 genomes]
rs60753214	0.83[AMR][1000 genomes]
rs73749524	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73749525	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73749526	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73749585	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73749586	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73749593	1.00[AMR][1000 genomes]
rs73749595	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73749596	0.83[AMR][1000 genomes]
rs73752121	0.83[AMR][1000 genomes]
rs73752126	1.00[AMR][1000 genomes]
rs73752131	1.00[AMR][1000 genomes]
rs73752132	1.00[AMR][1000 genomes]
rs73752133	1.00[AMR][1000 genomes]
rs73752135	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73752138	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73752139	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73752140	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7710316	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1018187	chr5:14385164-15127103	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv830211	chr5:14474675-14675776	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv1032951	chr5:14529579-14667342	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14641000-14641200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived

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