Variant report

Variant	rs11981116
Chromosome Location	chr7:80820142-80820143
allele	G/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	STAT3	chr7:80819901-80820430	MCF10A-Er-Src	breast:	n/a	n/a
4	FOSL2	chr7:80820095-80820792	SK-N-SH	brain:	n/a	n/a
5	GATA3	chr7:80820044-80820882	SK-N-SH	brain:	n/a	n/a
6	FOSL2	chr7:80820112-80820802	A549	lung:	n/a	n/a
7	JUND	chr7:80819646-80821255	SK-N-SH	brain:	n/a	chr7:80820507-80820518
8	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
ENSG00000237896	Chromatin interaction
ENSG00000075223	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10282195	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11767232	0.87[EUR][1000 genomes]
rs11768393	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11768454	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11973996	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11975298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11980049	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11982217	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11982242	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11983345	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11984187	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16886981	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16887030	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17154836	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17154873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2367225	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28470599	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3914075	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4606001	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55731316	0.94[AFR][1000 genomes]
rs55908333	0.94[AFR][1000 genomes]
rs56283988	0.94[AFR][1000 genomes]
rs56299732	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56347546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56707960	0.94[AFR][1000 genomes]
rs56968902	0.84[AFR][1000 genomes]
rs57292892	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57771152	0.94[AFR][1000 genomes]
rs58500032	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58631170	0.94[AFR][1000 genomes]
rs60103966	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60640315	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60859227	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73374738	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73374770	0.94[AFR][1000 genomes]
rs73374792	0.90[AFR][1000 genomes]
rs73378438	0.84[AFR][1000 genomes]
rs73384446	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73384451	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73384458	0.81[AFR][1000 genomes]
rs73384473	0.94[AFR][1000 genomes]
rs73384478	0.81[AFR][1000 genomes]
rs73384485	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73384500	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73386404	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7796420	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7812231	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs996722	0.94[AFR][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:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80817200-80820200	Weak transcription	Adipose Nuclei	Adipose
2	chr7:80819400-80820200	Weak transcription	K562	blood
3	chr7:80819600-80821000	Enhancers	Fetal Heart	heart
4	chr7:80819800-80820800	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr7:80819800-80820800	Enhancers	HMEC	breast
6	chr7:80819800-80820800	Enhancers	NHLF	lung
7	chr7:80819800-80821000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:80819800-80821000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:80819800-80821200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:80819800-80821400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr7:80820000-80820200	Enhancers	Psoas Muscle	Psoas
12	chr7:80820000-80820600	Enhancers	Pancreas	Pancrea
13	chr7:80820000-80820800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:80820000-80820800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:80820000-80820800	Enhancers	Fetal Intestine Small	intestine
16	chr7:80820000-80820800	Enhancers	HSMM	muscle
17	chr7:80820000-80821000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:80820000-80821000	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr7:80820000-80821000	Flanking Active TSS	A549	lung
20	chr7:80820000-80821000	Enhancers	HSMMtube	muscle
21	chr7:80820000-80821000	Enhancers	NHEK	skin
22	chr7:80820000-80821000	Enhancers	Osteobl	bone
23	chr7:80820000-80821200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr7:80820000-80821200	Enhancers	Fetal Intestine Large	intestine
25	chr7:80820000-80821200	Enhancers	NHDF-Ad	bronchial

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