Variant report

Variant	rs16927866
Chromosome Location	chr8:62679096-62679097
allele	A/G
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	SIX5	chr8:62678080-62680838	A549	lung:	n/a	chr8:62680150-62680159
2	FOSL2	chr8:62679050-62680607	A549	lung:	n/a	chr8:62679997-62680006
3	POLR2A	chr8:62678450-62680226	U87	brain:	n/a	n/a
4	EP300	chr8:62677890-62680784	A549	lung:	n/a	chr8:62678169-62678179
5	BCL3	chr8:62678111-62680639	A549	lung:	n/a	n/a
6	EP300	chr8:62678003-62680622	A549	lung:	n/a	chr8:62678169-62678179
7	MAFK	chr8:62679090-62680245	HepG2	liver:	n/a	chr8:62679504-62679515 chr8:62679504-62679515 chr8:62679503-62679517 chr8:62680034-62680048 chr8:62679505-62679516 chr8:62679505-62679516
8	GATA3	chr8:62678997-62680734	A549	lung:	n/a	n/a
9	POLR2A	chr8:62679010-62680169	U87	brain:	n/a	n/a
10	POLR2A	chr8:62678940-62680197	U87	brain:	n/a	n/a
11	SP1	chr8:62678049-62680930	A549	lung:	n/a	n/a
12	CEBPB	chr8:62678037-62680579	A549	lung:	n/a	chr8:62679961-62679972 chr8:62679803-62679811 chr8:62679094-62679105

No.	Distal block	Cell Line	Cell type
1	chr8:62678357..62681293-chr8:64079795..64081873,2	MCF-7	breast:
2	chr8:62620081..62623599-chr8:62678566..62680861,4	K562	blood:
3	chr8:62600772..62604882-chr8:62678013..62681248,3	MCF-7	breast:
4	chr8:62618042..62628934-chr8:62666240..62683608,38	K562	blood:
5	chr8:62678761..62681544-chr8:62788290..62791264,2	K562	blood:

Variant related genes	Relation type
ENSG00000251127	TF binding region
ENSG00000198363	Chromatin interaction
ENSG00000185728	Chromatin interaction
ENSG00000270673	Chromatin interaction
ENSG00000264408	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12156078	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12156424	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16927847	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16927875	1.00[CEU][hapmap]
rs16927904	1.00[CEU][hapmap]
rs16927910	1.00[CEU][hapmap]
rs2015490	1.00[CEU][hapmap]
rs2350583	0.85[EUR][1000 genomes]
rs3195249	1.00[CEU][hapmap]
rs4130092	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4295658	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58825446	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61159324	0.86[AFR][1000 genomes]
rs73682360	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73682362	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][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	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv2761430	chr8:62517980-62873803	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1015216	chr8:62517980-62873803	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62672800-62679400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:62674200-62679200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr8:62674200-62679400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:62674400-62681600	Enhancers	Hela-S3	cervix
5	chr8:62674600-62679200	Weak transcription	NH-A	brain
6	chr8:62675200-62679400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr8:62675400-62679400	Weak transcription	HMEC	breast
8	chr8:62675400-62679400	Weak transcription	NHEK	skin
9	chr8:62677000-62679400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:62678200-62679600	Flanking Active TSS	A549	lung
11	chr8:62678400-62679200	Enhancers	HepG2	liver
12	chr8:62678400-62680200	Enhancers	K562	blood
13	chr8:62678400-62680200	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr8:62678400-62680400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr8:62678400-62680400	Enhancers	NHDF-Ad	bronchial
16	chr8:62678400-62680600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:62678400-62680600	Enhancers	Muscle Satellite Cultured Cells	--
18	chr8:62678400-62680800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr8:62678400-62680800	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr8:62678400-62680800	Enhancers	NHLF	lung
21	chr8:62678600-62679200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:62678800-62679400	Weak transcription	Fetal Lung	lung
23	chr8:62678800-62680400	Enhancers	Osteobl	bone
24	chr8:62679000-62679600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:62679000-62679800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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