Variant report

Variant	rs73385070
Chromosome Location	chr6:25927588-25927589
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	GATA3	chr6:25927360-25927735	SK-N-SH	brain:	n/a	n/a
2	EP300	chr6:25927328-25927736	SK-N-SH_RA	brain:	n/a	n/a
3	STAT3	chr6:25927560-25927764	MCF10A-Er-Src	breast:	n/a	chr6:25927666-25927677
4	GATA3	chr6:25927391-25927793	SK-N-SH	brain:	n/a	n/a
5	CTCF	chr6:25927440-25927590	GM12865	blood:	n/a	n/a
6	STAT3	chr6:25927524-25927848	MCF10A-Er-Src	breast:	n/a	chr6:25927666-25927677
7	FOS	chr6:25927588-25927788	MCF10A-Er-Src	breast:	n/a	n/a
8	EP300	chr6:25927293-25927762	SK-N-SH_RA	brain:	n/a	n/a
9	EP300	chr6:25927080-25928688	SK-N-SH	brain:	n/a	chr6:25928576-25928585

No.	Distal block	Cell Line	Cell type
1	chr6:25922119..25925383-chr6:25927445..25929839,3	K562	blood:
2	chr6:25926126..25929145-chr6:25930026..25932650,3	K562	blood:
3	chr6:25926318..25928575-chr6:26123555..26125874,2	K562	blood:

Variant related genes	Relation type
SLC17A2	TF binding region
ENSG00000180596	Chromatin interaction
ENSG00000180573	Chromatin interaction
ENSG00000112337	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs28433902	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4379284	1.00[EUR][1000 genomes]
rs4484510	1.00[EUR][1000 genomes]
rs6924093	1.00[EUR][1000 genomes]
rs6927402	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6933573	1.00[EUR][1000 genomes]
rs6933725	1.00[EUR][1000 genomes]
rs73383224	1.00[EUR][1000 genomes]
rs73383248	1.00[EUR][1000 genomes]
rs73383256	1.00[EUR][1000 genomes]
rs73383283	1.00[EUR][1000 genomes]
rs73383287	1.00[EUR][1000 genomes]
rs73385003	1.00[EUR][1000 genomes]
rs73385005	1.00[EUR][1000 genomes]
rs73385008	1.00[EUR][1000 genomes]
rs73385013	1.00[EUR][1000 genomes]
rs73385016	1.00[EUR][1000 genomes]
rs73385046	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73385068	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73385071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7741430	1.00[EUR][1000 genomes]
rs7765800	1.00[EUR][1000 genomes]
rs7776337	1.00[EUR][1000 genomes]
rs9393666	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029920	chr6:25638507-26585842	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
2	nsv538162	chr6:25638507-26585842	Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
3	nsv1030351	chr6:25813178-26352046	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1189 gene(s)	inside rSNPs	diseases
4	nsv1023453	chr6:25853830-26528250	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1201 gene(s)	inside rSNPs	diseases
5	nsv1025237	chr6:25874326-26280867	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1166 gene(s)	inside rSNPs	diseases
6	nsv538163	chr6:25874326-26280867	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1166 gene(s)	inside rSNPs	diseases
7	nsv5229	chr6:25912151-25956558	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	esv2755446	chr6:25924513-25981648	Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:25923200-25927800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr6:25926200-25928000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:25927000-25929000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:25927200-25928200	Enhancers	HepG2	liver
5	chr6:25927400-25928200	Flanking Active TSS	Liver	Liver

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