Variant report

Variant	rs8082488
Chromosome Location	chr17:38864241-38864242
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	RAD21	chr17:38864070-38864318	Hela-S3	cervix:	n/a	chr17:38864130-38864143 chr17:38864126-38864140
2	USF2	chr17:38864071-38864379	Hela-S3	cervix:	n/a	n/a
3	RCOR1	chr17:38864025-38864400	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr17:38864054-38864367	A549	lung:	n/a	chr17:38864183-38864194 chr17:38864183-38864196 chr17:38864184-38864195 chr17:38864183-38864196 chr17:38864183-38864194
5	CEBPB	chr17:38863954-38864399	Hela-S3	cervix:	n/a	chr17:38864183-38864194 chr17:38864183-38864196 chr17:38864184-38864195 chr17:38864183-38864196 chr17:38864183-38864194
6	FOS	chr17:38864043-38864406	MCF10A-Er-Src	breast:	n/a	n/a
7	CEBPB	chr17:38863922-38864467	A549	lung:	n/a	chr17:38864183-38864194 chr17:38864183-38864196 chr17:38864428-38864439 chr17:38864184-38864195 chr17:38864183-38864196 chr17:38864183-38864194
8	ZNF143	chr17:38864047-38864355	Hela-S3	cervix:	n/a	n/a
9	TCF7L2	chr17:38863999-38864358	Hela-S3	cervix:	n/a	n/a
10	NFYB	chr17:38864116-38864429	Hela-S3	cervix:	n/a	n/a
11	STAT3	chr17:38864072-38864485	MCF10A-Er-Src	breast:	n/a	chr17:38864164-38864175 chr17:38864442-38864450
12	FOS	chr17:38864053-38864381	MCF10A-Er-Src	breast:	n/a	n/a
13	SMARCC1	chr17:38863949-38864388	Hela-S3	cervix:	n/a	n/a
14	MAX	chr17:38863960-38864424	Hela-S3	cervix:	n/a	n/a
15	JUND	chr17:38863954-38864401	Hela-S3	cervix:	n/a	n/a
16	MAZ	chr17:38863991-38864347	Hela-S3	cervix:	n/a	n/a
17	SMC3	chr17:38863984-38864359	Hela-S3	cervix:	n/a	chr17:38864129-38864137 chr17:38864133-38864140
18	FOS	chr17:38863956-38864368	HUVEC	blood vessel:	n/a	n/a
19	RFX5	chr17:38864045-38864375	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr17:38864113-38864255	K562	blood:	n/a	chr17:38864183-38864194 chr17:38864183-38864196 chr17:38864184-38864195 chr17:38864183-38864196 chr17:38864183-38864194
21	POLR2A	chr17:38863936-38864460	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr17:38864068-38864256	HepG2	liver:	n/a	chr17:38864183-38864194 chr17:38864183-38864196 chr17:38864184-38864195 chr17:38864183-38864196 chr17:38864183-38864194
23	EP300	chr17:38863960-38864443	Hela-S3	cervix:	n/a	chr17:38864038-38864047 chr17:38864296-38864310 chr17:38864253-38864260 chr17:38864346-38864360 chr17:38864181-38864195
24	PRDM1	chr17:38864004-38864561	Hela-S3	cervix:	n/a	chr17:38864309-38864324 chr17:38864311-38864320
25	FOS	chr17:38864001-38864406	MCF10A-Er-Src	breast:	n/a	n/a
26	POLR2A	chr17:38863982-38864370	HUVEC	blood vessel:	n/a	n/a
27	CEBPB	chr17:38864071-38864340	HepG2	liver:	n/a	chr17:38864183-38864194 chr17:38864183-38864196 chr17:38864184-38864195 chr17:38864183-38864196 chr17:38864183-38864194
28	GTF2F1	chr17:38863989-38864398	Hela-S3	cervix:	n/a	n/a
29	FOS	chr17:38864079-38864395	MCF10A-Er-Src	breast:	n/a	n/a
30	NFYA	chr17:38864117-38864397	Hela-S3	cervix:	n/a	n/a
31	CHD2	chr17:38863989-38864471	Hela-S3	cervix:	n/a	n/a
32	MYC	chr17:38864112-38864368	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
KRT24	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11078949	1.00[EUR][1000 genomes]
rs11657772	1.00[EUR][1000 genomes]
rs12936773	1.00[EUR][1000 genomes]
rs3136693	1.00[EUR][1000 genomes]
rs35935440	1.00[EUR][1000 genomes]
rs35941326	1.00[EUR][1000 genomes]
rs57393313	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58281977	1.00[EUR][1000 genomes]
rs59333312	1.00[EUR][1000 genomes]
rs60355701	1.00[EUR][1000 genomes]
rs61289871	1.00[EUR][1000 genomes]
rs7207004	1.00[EUR][1000 genomes]
rs7225036	1.00[EUR][1000 genomes]
rs73293410	1.00[EUR][1000 genomes]
rs73293414	1.00[EUR][1000 genomes]
rs73297427	1.00[EUR][1000 genomes]
rs73983088	1.00[EUR][1000 genomes]
rs73983091	1.00[EUR][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	nsv431626	chr17:38770965-38999722	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription 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 miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv908225	chr17:38776406-38868480	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38854000-38875800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr17:38860000-38864600	Weak transcription	Placenta	Placenta
3	chr17:38860000-38890200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr17:38861800-38864600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr17:38863600-38864400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr17:38863600-38864600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr17:38863600-38865000	Enhancers	HUVEC	blood vessel
8	chr17:38863800-38864400	Weak transcription	Lung	lung
9	chr17:38863800-38864600	Bivalent Enhancer	HepG2	liver
10	chr17:38864000-38864400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr17:38864000-38864600	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr17:38864000-38864600	Enhancers	A549	lung
13	chr17:38864000-38864600	Enhancers	NHEK	skin
14	chr17:38864000-38864800	Enhancers	Placenta Amnion	Placenta Amnion
15	chr17:38864000-38864800	Enhancers	Right Atrium	heart
16	chr17:38864000-38865000	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr17:38864000-38865200	Enhancers	Adipose Nuclei	Adipose
18	chr17:38864200-38864400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr17:38864200-38864800	Flanking Active TSS	Hela-S3	cervix
20	chr17:38864200-38864800	Enhancers	HMEC	breast
21	chr17:38864200-38865000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr17:38864200-38865000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr17:38864200-38865000	Enhancers	Esophagus	oesophagus

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