Variant report

Variant	rs9639539
Chromosome Location	chr7:26421198-26421199
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	CEBPB	chr7:26421151-26421524	A549	lung:	n/a	chr7:26421333-26421344
2	CEBPB	chr7:26421156-26421505	IMR90	lung:	n/a	chr7:26421333-26421344
3	CEBPB	chr7:26421140-26421520	K562	blood:	n/a	chr7:26421333-26421344
4	CEBPB	chr7:26421158-26421478	Hela-S3	cervix:	n/a	chr7:26421333-26421344
5	STAT3	chr7:26421157-26421471	MCF10A-Er-Src	breast:	n/a	chr7:26421316-26421327
6	CEBPB	chr7:26421075-26421554	A549	lung:	n/a	chr7:26421333-26421344
7	STAT3	chr7:26421163-26421415	MCF10A-Er-Src	breast:	n/a	chr7:26421316-26421327
8	STAT3	chr7:26421156-26421485	MCF10A-Er-Src	breast:	n/a	chr7:26421316-26421327
9	STAT3	chr7:26421069-26421363	MCF10A-Er-Src	breast:	n/a	chr7:26421316-26421327
10	CEBPB	chr7:26421123-26421486	MCF-7	breast:	n/a	chr7:26421333-26421344
11	CEBPB	chr7:26421187-26421422	H1-hESC	embryonic stem cell:	n/a	chr7:26421333-26421344
12	CEBPB	chr7:26421155-26421513	HepG2	liver:	n/a	chr7:26421333-26421344
13	CEBPB	chr7:26421158-26421490	K562	blood:	n/a	chr7:26421333-26421344

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:26416251..26418244-chr7:26420331..26423267,2	MCF-7	breast:
2	chr7:26420986..26421773-chr7:26540355..26541362,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000225792	TF binding region
ENSG00000225792	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10807832	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10951132	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10951133	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10951134	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10951135	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10951136	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10951137	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12531639	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12670965	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13241375	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3193526	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6461934	0.86[ASN][1000 genomes]
rs6461935	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6461936	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6950352	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6967677	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7780256	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7780650	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7799362	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9638835	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9639536	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9639538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs966416	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029596	chr7:26302739-26737913	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv538804	chr7:26302739-26737913	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26417200-26421600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:26417200-26421600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr7:26417200-26427400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:26418400-26421600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:26418600-26436000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr7:26420600-26421600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr7:26420600-26421600	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr7:26421000-26421600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood

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