Variant report

Variant	rs57292892
Chromosome Location	chr7:80820665-80820666
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	JUND	chr7:80820140-80820807	HCT-116	colon:	n/a	chr7:80820507-80820518
2	TCF12	chr7:80820042-80820828	SK-N-SH	brain:	n/a	n/a
3	JUND	chr7:80820321-80820679	K562	blood:	n/a	chr7:80820507-80820518
4	POLR2A	chr7:80820315-80820702	SK-N-SH	brain:	n/a	n/a
5	PBX3	chr7:80820198-80820777	SK-N-SH	brain:	n/a	n/a
6	JUND	chr7:80820338-80820693	HepG2	liver:	n/a	chr7:80820507-80820518
7	JUND	chr7:80820212-80820670	A549	lung:	n/a	chr7:80820507-80820518
8	FOS	chr7:80820328-80820702	MCF10A-Er-Src	breast:	n/a	chr7:80820507-80820518
9	CEBPB	chr7:80820218-80820794	HCT-116	colon:	n/a	n/a
10	FOSL2	chr7:80820249-80820809	MCF-7	breast:	n/a	n/a
11	FOS	chr7:80820302-80820702	MCF10A-Er-Src	breast:	n/a	chr7:80820507-80820518
12	CEBPB	chr7:80820356-80820699	Hela-S3	cervix:	n/a	n/a
13	FOSL2	chr7:80820268-80820700	A549	lung:	n/a	n/a
14	EP300	chr7:80820363-80820698	Hela-S3	cervix:	n/a	n/a
15	FOSL2	chr7:80820095-80820792	SK-N-SH	brain:	n/a	n/a
16	FOS	chr7:80820301-80820708	MCF10A-Er-Src	breast:	n/a	chr7:80820507-80820518
17	FOSL2	chr7:80820260-80820795	MCF-7	breast:	n/a	n/a
18	SP1	chr7:80820172-80820772	A549	lung:	n/a	n/a
19	JUN	chr7:80820317-80820683	Hela-S3	cervix:	n/a	n/a
20	GATA3	chr7:80820044-80820882	SK-N-SH	brain:	n/a	n/a
21	PBX3	chr7:80820193-80820876	SK-N-SH	brain:	n/a	n/a
22	FOSL1	chr7:80820240-80820833	HCT-116	colon:	n/a	n/a
23	FOSL2	chr7:80820112-80820802	A549	lung:	n/a	n/a
24	JUND	chr7:80819646-80821255	SK-N-SH	brain:	n/a	chr7:80820507-80820518
25	JUND	chr7:80820224-80820816	HCT-116	colon:	n/a	chr7:80820507-80820518
26	FOS	chr7:80820338-80820724	HUVEC	blood vessel:	n/a	chr7:80820507-80820518
27	JUND	chr7:80820330-80820741	Hela-S3	cervix:	n/a	chr7:80820507-80820518
28	FOSL1	chr7:80820228-80820715	HCT-116	colon:	n/a	n/a
29	JUND	chr7:80820136-80820824	SK-N-SH	brain:	n/a	chr7:80820507-80820518
30	FOS	chr7:80820326-80820694	MCF10A-Er-Src	breast:	n/a	chr7:80820507-80820518

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:80546955..80550718-chr7:80817331..80823169,5	MCF-7	breast:
2	chr7:80814937..80817852-chr7:80819181..80821334,2	K562	blood:

Variant related genes	Relation type
ENSG00000226671	TF binding region
ENSG00000237896	Chromatin interaction
ENSG00000075223	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10282195	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11767232	0.87[EUR][1000 genomes]
rs11768393	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11768454	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11973996	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11975298	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11980049	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11981116	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11982217	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11982242	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11983345	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11984187	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16886981	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16887030	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17154836	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17154873	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2367225	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28470599	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3914075	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4606001	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56299732	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56347546	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58500032	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60103966	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60640315	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60859227	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73374738	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73384446	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73384451	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73384485	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73384500	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73386404	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7796420	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7812231	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[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	nsv1034690	chr7:80520004-80987682	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv831044	chr7:80721773-80918591	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv888557	chr7:80813081-80917148	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1023149	chr7:80817550-80928090	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80819600-80821000	Enhancers	Fetal Heart	heart
2	chr7:80819800-80820800	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr7:80819800-80820800	Enhancers	HMEC	breast
4	chr7:80819800-80820800	Enhancers	NHLF	lung
5	chr7:80819800-80821000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:80819800-80821000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:80819800-80821200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:80819800-80821400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr7:80820000-80820800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:80820000-80820800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:80820000-80820800	Enhancers	Fetal Intestine Small	intestine
12	chr7:80820000-80820800	Enhancers	HSMM	muscle
13	chr7:80820000-80821000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:80820000-80821000	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr7:80820000-80821000	Flanking Active TSS	A549	lung
16	chr7:80820000-80821000	Enhancers	HSMMtube	muscle
17	chr7:80820000-80821000	Enhancers	NHEK	skin
18	chr7:80820000-80821000	Enhancers	Osteobl	bone
19	chr7:80820000-80821200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr7:80820000-80821200	Enhancers	Fetal Intestine Large	intestine
21	chr7:80820000-80821200	Enhancers	NHDF-Ad	bronchial
22	chr7:80820200-80820800	Weak transcription	Psoas Muscle	Psoas
23	chr7:80820200-80820800	Enhancers	HepG2	liver
24	chr7:80820200-80821000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:80820200-80821000	Enhancers	Adipose Nuclei	Adipose
26	chr7:80820600-80821000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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