Variant report

Variant	rs72792301
Chromosome Location	chr5:119952453-119952454
allele	A/G
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	FOSL2	chr5:119951492-119952573	SK-N-SH	brain:	n/a	chr5:119952435-119952443
2	FOS	chr5:119951642-119952470	MCF10A-Er-Src	breast:	n/a	chr5:119952435-119952443
3	SIN3A	chr5:119952384-119952460	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAFK	chr5:119952307-119952587	IMR90	lung:	n/a	chr5:119952433-119952442 chr5:119952433-119952443
5	TCF12	chr5:119951497-119952683	SK-N-SH	brain:	n/a	n/a
6	FOS	chr5:119951583-119952603	MCF10A-Er-Src	breast:	n/a	chr5:119952435-119952443
7	FOS	chr5:119952279-119952568	MCF10A-Er-Src	breast:	n/a	chr5:119952435-119952443
8	FOS	chr5:119951595-119952575	MCF10A-Er-Src	breast:	n/a	chr5:119952435-119952443

Variant related genes	Relation type
PRR16	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1037569	0.92[ASN][1000 genomes]
rs1037570	0.90[ASN][1000 genomes]
rs10434768	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs10519647	0.91[AFR][1000 genomes]
rs13173880	0.96[ASN][1000 genomes]
rs1524563	0.94[ASN][1000 genomes]
rs17429630	0.91[AFR][1000 genomes]
rs17501872	0.91[AFR][1000 genomes]
rs17501927	0.91[AFR][1000 genomes]
rs2168216	0.94[ASN][1000 genomes]
rs56126743	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62377807	0.84[AFR][1000 genomes]
rs72792297	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72794307	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs72794308	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs72794324	0.91[AFR][1000 genomes]
rs72794329	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs72794336	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs72794341	0.91[AFR][1000 genomes]
rs72794345	0.84[AFR][1000 genomes]
rs72798425	0.91[AFR][1000 genomes]
rs9285892	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9327153	0.94[ASN][1000 genomes]
rs9327154	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9327155	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9327156	0.84[ASN][1000 genomes]
rs9327157	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9686370	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9716009	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9717178	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9764195	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs985263	0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532200	chr5:119317901-120102513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv830463	chr5:119806643-119968825	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1031453	chr5:119843593-120393038	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv948613	chr5:119861955-119999008	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv599602	chr5:119866504-120023393	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv949499	chr5:119869763-119999008	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv830464	chr5:119950090-120106717	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119942600-119952800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:119949200-119953000	Enhancers	NHLF	lung
3	chr5:119949400-119953000	Enhancers	HMEC	breast
4	chr5:119949400-119953000	Enhancers	NHEK	skin
5	chr5:119949800-119953000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:119950600-119953000	Enhancers	HSMMtube	muscle
7	chr5:119950600-119954600	Weak transcription	Fetal Lung	lung
8	chr5:119950600-119967400	Weak transcription	Psoas Muscle	Psoas
9	chr5:119950800-119953000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:119950800-119953000	Enhancers	NH-A	brain
11	chr5:119951000-119954400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr5:119951400-119952800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr5:119951600-119952600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr5:119951600-119952600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr5:119951600-119952600	Enhancers	Placenta Amnion	Placenta Amnion
16	chr5:119951600-119952600	Flanking Active TSS	NHDF-Ad	bronchial
17	chr5:119951800-119952600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr5:119952000-119952600	Flanking Active TSS	Osteobl	bone
19	chr5:119952000-119953000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr5:119952000-119953000	Genic enhancers	HSMM	muscle
21	chr5:119952200-119953000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:119952400-119952600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:119952400-119953000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:119952400-119953000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:119952400-119953800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr5:119952400-119969200	Weak transcription	Aorta	Aorta

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