Variant report

Variant	rs327698
Chromosome Location	chr7:80820311-80820312
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	EP300	chr7:80820303-80820595	SK-N-SH_RA	brain:	n/a	n/a
4	PBX3	chr7:80820198-80820777	SK-N-SH	brain:	n/a	n/a
5	JUND	chr7:80820212-80820670	A549	lung:	n/a	chr7:80820507-80820518
6	STAT3	chr7:80819901-80820430	MCF10A-Er-Src	breast:	n/a	n/a
7	CEBPB	chr7:80820218-80820794	HCT-116	colon:	n/a	n/a
8	FOSL2	chr7:80820249-80820809	MCF-7	breast:	n/a	n/a
9	FOS	chr7:80820302-80820702	MCF10A-Er-Src	breast:	n/a	chr7:80820507-80820518
10	FOSL2	chr7:80820268-80820700	A549	lung:	n/a	n/a
11	FOSL2	chr7:80820095-80820792	SK-N-SH	brain:	n/a	n/a
12	FOS	chr7:80820301-80820708	MCF10A-Er-Src	breast:	n/a	chr7:80820507-80820518
13	FOSL2	chr7:80820260-80820795	MCF-7	breast:	n/a	n/a
14	SP1	chr7:80820172-80820772	A549	lung:	n/a	n/a
15	GATA3	chr7:80820044-80820882	SK-N-SH	brain:	n/a	n/a
16	PBX3	chr7:80820193-80820876	SK-N-SH	brain:	n/a	n/a
17	FOSL1	chr7:80820240-80820833	HCT-116	colon:	n/a	n/a
18	FOSL2	chr7:80820112-80820802	A549	lung:	n/a	n/a
19	FOSL2	chr7:80820255-80820628	HepG2	liver:	n/a	n/a
20	JUND	chr7:80819646-80821255	SK-N-SH	brain:	n/a	chr7:80820507-80820518
21	JUND	chr7:80820224-80820816	HCT-116	colon:	n/a	chr7:80820507-80820518
22	FOSL1	chr7:80820228-80820715	HCT-116	colon:	n/a	n/a
23	JUND	chr7:80820136-80820824	SK-N-SH	brain:	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: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12667286	0.81[ASN][1000 genomes]
rs167862	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs327665	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs327674	0.90[EUR][1000 genomes]
rs327679	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327680	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327681	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327684	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs327688	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs327689	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs327694	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4524735	0.88[EUR][1000 genomes]
rs477191	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs567272	0.89[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[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	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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