Variant report

Variant	rs72917859
Chromosome Location	chr11:57796126-57796127
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	RCOR1	chr11:57795672-57797054	IMR90	lung:	n/a	n/a
2	FOXP2	chr11:57796010-57796389	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr11:57795946-57796356	SK-N-MC	brain:	n/a	n/a
4	FOXA1	chr11:57796061-57796492	HepG2	liver:	n/a	n/a
5	EP300	chr11:57796082-57796506	HepG2	liver:	n/a	n/a
6	FOXA1	chr11:57796102-57796465	HepG2	liver:	n/a	n/a
7	MAZ	chr11:57795957-57796976	IMR90	lung:	n/a	n/a
8	FOXA1	chr11:57796037-57796510	HepG2	liver:	n/a	n/a
9	CEBPB	chr11:57796019-57796719	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
RNU6-899P	TF binding region
OR6Q1	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12417338	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12418614	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12421556	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17458061	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2175276	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2866831	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55665208	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56023680	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56245847	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61903961	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61903969	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61904010	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61904013	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61904025	0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs61904041	0.82[AFR][1000 genomes]
rs61905316	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61905341	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61905342	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61905343	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61905344	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61905345	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7108167	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7112942	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7128781	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72915744	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72919837	0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7925491	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7944888	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7945120	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv1054205	chr11:57544264-58358509	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv897589	chr11:57623815-58052357	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	esv2761678	chr11:57768288-57810886	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57791200-57798200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr11:57792000-57811400	Weak transcription	Right Atrium	heart
3	chr11:57792400-57796800	Weak transcription	Esophagus	oesophagus
4	chr11:57792600-57796400	Weak transcription	HSMMtube	muscle
5	chr11:57792800-57796600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr11:57794400-57797000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr11:57794400-57797200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr11:57794400-57797800	Enhancers	NHLF	lung
9	chr11:57794600-57796200	Enhancers	HepG2	liver
10	chr11:57794600-57797000	Enhancers	Placenta	Placenta
11	chr11:57794600-57797000	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr11:57794600-57797000	Enhancers	Osteobl	bone
13	chr11:57794600-57797400	Enhancers	Fetal Lung	lung
14	chr11:57794800-57797800	Enhancers	Adipose Nuclei	Adipose
15	chr11:57795000-57796600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr11:57795200-57797000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr11:57795400-57796200	Enhancers	Fetal Stomach	stomach
18	chr11:57795600-57796200	Enhancers	Spleen	Spleen
19	chr11:57795600-57797000	Enhancers	Duodenum Mucosa	Duodenum
20	chr11:57795800-57796600	Weak transcription	Colonic Mucosa	Colon
21	chr11:57795800-57796600	Weak transcription	Lung	lung
22	chr11:57796000-57796200	Enhancers	Aorta	Aorta
23	chr11:57796000-57796400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:57796000-57796400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:57796000-57796400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr11:57796000-57796400	Weak transcription	Left Ventricle	heart
27	chr11:57796000-57796400	Weak transcription	Pancreas	Pancrea

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