Variant report

Variant	rs327699
Chromosome Location	chr7:80820413-80820414
allele	A/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	MYC	chr7:80820400-80820602	MCF10A-Er-Src	breast:	n/a	n/a
3	JUN	chr7:80820388-80820595	HepG2	liver:	n/a	n/a
4	CEBPB	chr7:80820396-80820636	IMR90	lung:	n/a	n/a
5	TCF12	chr7:80820042-80820828	SK-N-SH	brain:	n/a	n/a
6	MAFK	chr7:80820379-80820567	HepG2	liver:	n/a	n/a
7	JUND	chr7:80820321-80820679	K562	blood:	n/a	chr7:80820507-80820518
8	EP300	chr7:80820303-80820595	SK-N-SH_RA	brain:	n/a	n/a
9	POLR2A	chr7:80820315-80820702	SK-N-SH	brain:	n/a	n/a
10	PBX3	chr7:80820198-80820777	SK-N-SH	brain:	n/a	n/a
11	STAT3	chr7:80820405-80820493	MCF10A-Er-Src	breast:	n/a	n/a
12	SMC3	chr7:80820390-80820659	Hela-S3	cervix:	n/a	n/a
13	JUND	chr7:80820338-80820693	HepG2	liver:	n/a	chr7:80820507-80820518
14	JUND	chr7:80820212-80820670	A549	lung:	n/a	chr7:80820507-80820518
15	FOS	chr7:80820328-80820702	MCF10A-Er-Src	breast:	n/a	chr7:80820507-80820518
16	STAT3	chr7:80819901-80820430	MCF10A-Er-Src	breast:	n/a	n/a
17	CEBPB	chr7:80820218-80820794	HCT-116	colon:	n/a	n/a
18	FOSL2	chr7:80820249-80820809	MCF-7	breast:	n/a	n/a
19	FOS	chr7:80820302-80820702	MCF10A-Er-Src	breast:	n/a	chr7:80820507-80820518
20	CEBPB	chr7:80820356-80820699	Hela-S3	cervix:	n/a	n/a
21	FOSL2	chr7:80820268-80820700	A549	lung:	n/a	n/a
22	EP300	chr7:80820363-80820698	Hela-S3	cervix:	n/a	n/a
23	FOSL2	chr7:80820095-80820792	SK-N-SH	brain:	n/a	n/a
24	FOS	chr7:80820301-80820708	MCF10A-Er-Src	breast:	n/a	chr7:80820507-80820518
25	CEBPB	chr7:80820401-80820620	A549	lung:	n/a	n/a
26	FOSL2	chr7:80820260-80820795	MCF-7	breast:	n/a	n/a
27	SP1	chr7:80820172-80820772	A549	lung:	n/a	n/a
28	JUN	chr7:80820317-80820683	Hela-S3	cervix:	n/a	n/a
29	USF2	chr7:80820403-80820598	Hela-S3	cervix:	n/a	n/a
30	GATA3	chr7:80820044-80820882	SK-N-SH	brain:	n/a	n/a
31	PBX3	chr7:80820193-80820876	SK-N-SH	brain:	n/a	n/a
32	FOSL1	chr7:80820240-80820833	HCT-116	colon:	n/a	n/a
33	MAFK	chr7:80820381-80820572	HepG2	liver:	n/a	n/a
34	FOSL2	chr7:80820112-80820802	A549	lung:	n/a	n/a
35	FOSL2	chr7:80820255-80820628	HepG2	liver:	n/a	n/a
36	JUND	chr7:80819646-80821255	SK-N-SH	brain:	n/a	chr7:80820507-80820518
37	JUND	chr7:80820224-80820816	HCT-116	colon:	n/a	chr7:80820507-80820518
38	FOSL2	chr7:80820371-80820621	HepG2	liver:	n/a	n/a
39	RAD21	chr7:80820324-80820634	Hela-S3	cervix:	n/a	n/a
40	FOS	chr7:80820338-80820724	HUVEC	blood vessel:	n/a	chr7:80820507-80820518
41	JUND	chr7:80820330-80820741	Hela-S3	cervix:	n/a	chr7:80820507-80820518
42	STAT3	chr7:80820385-80820561	MCF10A-Er-Src	breast:	n/a	n/a
43	FOSL1	chr7:80820228-80820715	HCT-116	colon:	n/a	n/a
44	JUND	chr7:80820136-80820824	SK-N-SH	brain:	n/a	chr7:80820507-80820518
45	FOS	chr7:80820326-80820694	MCF10A-Er-Src	breast:	n/a	chr7:80820507-80820518

No.	Distal block	Cell Line	Cell type
1	chr7:80546955..80550718-chr7:80817331..80823169,5	MCF-7	breast:
2	chr7:80814937..80817852-chr7:80819181..80821334,2	K562	blood:
3	chr7:80811160..80813261-chr7:80817973..80820541,2	K562	blood:

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

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10227178	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs16886959	0.84[ASN][1000 genomes]
rs17154808	1.00[CEU][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs17154833	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17154851	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs327682	1.00[CHB][hapmap]
rs327692	1.00[CHB][hapmap]
rs327695	1.00[CHB][hapmap]
rs327696	1.00[CHB][hapmap]
rs327700	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs471783	1.00[CHB][hapmap]
rs492377	1.00[CHB][hapmap]
rs500454	1.00[CHB][hapmap]
rs512906	1.00[CHB][hapmap]
rs517609	1.00[CHB][hapmap]
rs551994	1.00[CHB][hapmap]

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:29 , 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	chr7:80820000-80820600	Enhancers	Pancreas	Pancrea
10	chr7:80820000-80820800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:80820000-80820800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:80820000-80820800	Enhancers	Fetal Intestine Small	intestine
13	chr7:80820000-80820800	Enhancers	HSMM	muscle
14	chr7:80820000-80821000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:80820000-80821000	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr7:80820000-80821000	Flanking Active TSS	A549	lung
17	chr7:80820000-80821000	Enhancers	HSMMtube	muscle
18	chr7:80820000-80821000	Enhancers	NHEK	skin
19	chr7:80820000-80821000	Enhancers	Osteobl	bone
20	chr7:80820000-80821200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr7:80820000-80821200	Enhancers	Fetal Intestine Large	intestine
22	chr7:80820000-80821200	Enhancers	NHDF-Ad	bronchial
23	chr7:80820200-80820600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr7:80820200-80820600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:80820200-80820600	Enhancers	K562	blood
26	chr7:80820200-80820800	Weak transcription	Psoas Muscle	Psoas
27	chr7:80820200-80820800	Enhancers	HepG2	liver
28	chr7:80820200-80821000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr7:80820200-80821000	Enhancers	Adipose Nuclei	Adipose

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