Variant report

Variant	rs17392405
Chromosome Location	chr5:118990834-118990835
allele	A/C
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	chr5:118990553-118991201	Hela-S3	cervix:	n/a	chr5:118990978-118990989 chr5:118990977-118990988 chr5:118990885-118990898 chr5:118990887-118990898 chr5:118990887-118990898 chr5:118990885-118990898
2	STAT3	chr5:118990715-118991126	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr5:118990718-118991025	U87	brain:	n/a	n/a
4	FOS	chr5:118990702-118991141	MCF10A-Er-Src	breast:	n/a	n/a
5	RCOR1	chr5:118990746-118991096	Hela-S3	cervix:	n/a	n/a
6	STAT3	chr5:118990794-118991083	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr5:118990775-118991165	A549	lung:	n/a	chr5:118990978-118990989 chr5:118990977-118990988 chr5:118990885-118990898 chr5:118990887-118990898 chr5:118990887-118990898 chr5:118990885-118990898
8	BRCA1	chr5:118990797-118991092	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr5:118990828-118991094	H1-hESC	embryonic stem cell:	n/a	chr5:118990978-118990989 chr5:118990977-118990988 chr5:118990885-118990898 chr5:118990887-118990898 chr5:118990887-118990898 chr5:118990885-118990898
10	MAX	chr5:118990739-118991166	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr5:118990739-118991189	A549	lung:	n/a	chr5:118990978-118990989 chr5:118990977-118990988 chr5:118990885-118990898 chr5:118990887-118990898 chr5:118990887-118990898 chr5:118990885-118990898
12	FOS	chr5:118990671-118991152	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr5:118990662-118991156	MCF10A-Er-Src	breast:	n/a	n/a
14	MYC	chr5:118990806-118991143	NB4	blood:	n/a	n/a
15	CEBPB	chr5:118990724-118991187	MCF-7	breast:	n/a	chr5:118990978-118990989 chr5:118990977-118990988 chr5:118990885-118990898 chr5:118990887-118990898 chr5:118990887-118990898 chr5:118990885-118990898
16	CEBPB	chr5:118990789-118991120	ECC-1	luminal epithelium:	n/a	chr5:118990978-118990989 chr5:118990977-118990988 chr5:118990885-118990898 chr5:118990887-118990898 chr5:118990887-118990898 chr5:118990885-118990898
17	E2F4	chr5:118990722-118991112	MCF10A-Er-Src	breast:	n/a	chr5:118990842-118990851
18	FOS	chr5:118990701-118991162	MCF10A-Er-Src	breast:	n/a	n/a
19	CHD2	chr5:118990775-118991158	Hela-S3	cervix:	n/a	n/a
20	STAT3	chr5:118990717-118991111	MCF10A-Er-Src	breast:	n/a	n/a
21	STAT3	chr5:118990718-118991109	MCF10A-Er-Src	breast:	n/a	n/a
22	ZKSCAN1	chr5:118990813-118991114	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr5:118990718-118991055	U87	brain:	n/a	n/a
24	CEBPB	chr5:118990808-118991144	K562	blood:	n/a	chr5:118990978-118990989 chr5:118990977-118990988 chr5:118990885-118990898 chr5:118990887-118990898 chr5:118990887-118990898 chr5:118990885-118990898
25	STAT3	chr5:118990634-118991085	MCF10A-Er-Src	breast:	n/a	n/a
26	CEBPB	chr5:118990782-118991124	ECC-1	luminal epithelium:	n/a	chr5:118990978-118990989 chr5:118990977-118990988 chr5:118990885-118990898 chr5:118990887-118990898 chr5:118990887-118990898 chr5:118990885-118990898
27	MYC	chr5:118990637-118991131	MCF10A-Er-Src	breast:	n/a	n/a
28	CEBPB	chr5:118990820-118991177	HepG2	liver:	n/a	chr5:118990978-118990989 chr5:118990977-118990988 chr5:118990885-118990898 chr5:118990887-118990898 chr5:118990887-118990898 chr5:118990885-118990898
29	CEBPB	chr5:118990794-118991176	A549	lung:	n/a	chr5:118990978-118990989 chr5:118990977-118990988 chr5:118990885-118990898 chr5:118990887-118990898 chr5:118990887-118990898 chr5:118990885-118990898
30	JUND	chr5:118990690-118991130	Hela-S3	cervix:	n/a	n/a
31	GTF2F1	chr5:118990811-118991119	Hela-S3	cervix:	n/a	n/a
32	CEBPB	chr5:118990732-118991111	MCF-7	breast:	n/a	chr5:118990978-118990989 chr5:118990977-118990988 chr5:118990885-118990898 chr5:118990887-118990898 chr5:118990887-118990898 chr5:118990885-118990898
33	MYC	chr5:118990712-118991156	MCF10A-Er-Src	breast:	n/a	n/a
34	CEBPB	chr5:118990810-118991156	HepG2	liver:	n/a	chr5:118990978-118990989 chr5:118990977-118990988 chr5:118990885-118990898 chr5:118990887-118990898 chr5:118990887-118990898 chr5:118990885-118990898
35	CEBPB	chr5:118990832-118991062	K562	blood:	n/a	chr5:118990978-118990989 chr5:118990977-118990988 chr5:118990885-118990898 chr5:118990887-118990898 chr5:118990887-118990898 chr5:118990885-118990898
36	RFX5	chr5:118990744-118991126	Hela-S3	cervix:	n/a	n/a
37	RAD21	chr5:118990771-118991112	Hela-S3	cervix:	n/a	n/a
38	EP300	chr5:118990713-118991163	Hela-S3	cervix:	n/a	chr5:118990886-118990900

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118987303..118989018-chr5:118989601..118992459,2	K562	blood:

Variant related genes	Relation type
ENSG00000250895	TF binding region
ENSG00000250895	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1346520	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1597714	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17405448	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17405490	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17470309	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs193043	0.88[EUR][1000 genomes]
rs2019836	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2431377	0.86[EUR][1000 genomes]
rs328648	0.97[EUR][1000 genomes]
rs61744859	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7728498	1.00[EUR][1000 genomes]
rs7728816	0.95[EUR][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	nsv427732	chr5:118730999-119034741	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv1024455	chr5:118770429-119487982	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1016271	chr5:118836891-119487982	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv882778	chr5:118972113-119384039	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118989600-118992000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr5:118990200-118991200	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr5:118990600-118991200	Enhancers	HMEC	breast
4	chr5:118990600-118991400	Enhancers	Hela-S3	cervix

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