Variant report

Variant	rs72711259
Chromosome Location	chr15:45737253-45737254
allele	A/C
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	E2F6	chr15:45737246-45737454	K562	blood:	n/a	chr15:45737267-45737277
2	SMARCC1	chr15:45737203-45738499	Hela-S3	cervix:	n/a	n/a
3	TFAP2C	chr15:45737225-45738537	Hela-S3	cervix:	n/a	chr15:45737692-45737707 chr15:45738107-45738122
4	SMARCB1	chr15:45737163-45738442	Hela-S3	cervix:	n/a	n/a
5	MAX	chr15:45737158-45737597	K562	blood:	n/a	chr15:45737362-45737372 chr15:45737361-45737372 chr15:45737486-45737497
6	SMARCC2	chr15:45737221-45738352	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:45736069..45742318-chr15:45926037..45929619,6	MCF-7	breast:
2	chr15:45693986..45696362-chr15:45736299..45740535,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259354	TF binding region
ENSG00000259342	TF binding region
ENSG00000137767	Chromatin interaction
ENSG00000171766	Chromatin interaction
ENSG00000171763	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10152337	0.96[ASN][1000 genomes]
rs10152697	0.96[ASN][1000 genomes]
rs10851425	0.99[EUR][1000 genomes]
rs12324848	0.96[ASN][1000 genomes]
rs1288852	0.94[EUR][1000 genomes]
rs1288861	0.98[ASN][1000 genomes]
rs1288863	0.99[EUR][1000 genomes]
rs1288865	0.98[EUR][1000 genomes]
rs16942066	0.87[ASN][1000 genomes]
rs1706799	0.85[ASN][1000 genomes]
rs17533716	0.85[ASN][1000 genomes]
rs17535381	0.96[ASN][1000 genomes]
rs17537244	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17618294	0.96[ASN][1000 genomes]
rs2433602	0.98[ASN][1000 genomes]
rs2453518	0.94[EUR][1000 genomes]
rs2453546	0.98[ASN][1000 genomes]
rs2461706	0.98[ASN][1000 genomes]
rs2486287	0.98[ASN][1000 genomes]
rs2668746	0.83[ASN][1000 genomes]
rs55721266	0.96[ASN][1000 genomes]
rs55904415	0.96[ASN][1000 genomes]
rs56267974	0.98[ASN][1000 genomes]
rs56273246	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56306977	0.98[ASN][1000 genomes]
rs56327050	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56937414	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56967490	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57369693	0.96[ASN][1000 genomes]
rs57419781	0.96[ASN][1000 genomes]
rs61301536	0.98[ASN][1000 genomes]
rs72709081	0.87[ASN][1000 genomes]
rs72709084	0.87[ASN][1000 genomes]
rs72709088	0.96[ASN][1000 genomes]
rs72711253	0.98[ASN][1000 genomes]
rs72711255	0.98[ASN][1000 genomes]
rs9972405	0.96[ASN][1000 genomes]
rs9972498	0.96[ASN][1000 genomes]
rs9972528	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv569315	chr15:45446156-45772448	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv469721	chr15:45608881-45788002	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv482380	chr15:45608881-45788002	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
6	nsv442701	chr15:45737096-45748752	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45731400-45740400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:45734200-45738000	Enhancers	Stomach Mucosa	stomach
3	chr15:45735200-45737400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr15:45735200-45737400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr15:45735200-45737400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr15:45735200-45737400	Weak transcription	HSMM	muscle
7	chr15:45735200-45737400	Weak transcription	NHDF-Ad	bronchial
8	chr15:45735200-45737600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr15:45735200-45737600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr15:45735200-45737600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr15:45735200-45740400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr15:45735200-45740400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr15:45735800-45738600	Enhancers	Esophagus	oesophagus
14	chr15:45736600-45738600	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr15:45736800-45738200	Enhancers	A549	lung
16	chr15:45736800-45739200	Enhancers	Placenta	Placenta
17	chr15:45736800-45739200	Enhancers	Gastric	stomach
18	chr15:45737000-45737400	Enhancers	Colonic Mucosa	Colon
19	chr15:45737000-45737400	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr15:45737000-45737600	Enhancers	Duodenum Mucosa	Duodenum
21	chr15:45737000-45737800	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr15:45737000-45738400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr15:45737000-45738400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr15:45737000-45738400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr15:45737000-45738400	Enhancers	Adipose Nuclei	Adipose
26	chr15:45737000-45739000	Enhancers	Fetal Intestine Large	intestine
27	chr15:45737000-45739000	Enhancers	Fetal Intestine Small	intestine
28	chr15:45737200-45737600	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr15:45737200-45738200	Enhancers	Osteobl	bone
30	chr15:45737200-45738400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr15:45737200-45738400	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr15:45737200-45738400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr15:45737200-45738400	Enhancers	Lung	lung
34	chr15:45737200-45738400	Enhancers	Right Atrium	heart
35	chr15:45737200-45738600	Flanking Active TSS	Hela-S3	cervix
36	chr15:45737200-45739000	Enhancers	Liver	Liver
37	chr15:45737200-45739200	Enhancers	Pancreas	Pancrea

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