Variant report

Variant	rs72802352
Chromosome Location	chr16:75240883-75240884
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	EBF1	chr16:75240353-75240887	GM12878	blood:	n/a	chr16:75240725-75240736
2	ELF1	chr16:75240431-75240982	GM12878	blood:	n/a	n/a
3	POLR2A	chr16:75240187-75241287	HepG2	liver:	n/a	n/a
4	EBF1	chr16:75240514-75240894	GM12878	blood:	n/a	chr16:75240725-75240736
5	MAZ	chr16:75240656-75240891	GM12878	blood:	n/a	n/a
6	RELA	chr16:75240410-75240924	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:75239816..75243837-chr16:75256696..75260507,7	MCF-7	breast:
2	chr16:75239080..75244320-chr16:75282735..75286046,5	K562	blood:

Variant related genes	Relation type
CTRB2	TF binding region
ENSG00000050820	Chromatin interaction
ENSG00000240338	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs2870463	0.80[AMR][1000 genomes]
rs60470336	0.86[AMR][1000 genomes]
rs61634868	0.86[AMR][1000 genomes]
rs6564232	0.86[AMR][1000 genomes]
rs6564233	0.86[AMR][1000 genomes]
rs6564235	0.80[AMR][1000 genomes]
rs6564236	0.86[AMR][1000 genomes]
rs6564237	0.80[AMR][1000 genomes]
rs66473537	0.80[AMR][1000 genomes]
rs66535165	0.86[AMR][1000 genomes]
rs66881382	0.86[AMR][1000 genomes]
rs67478528	0.86[AMR][1000 genomes]
rs7197389	0.86[AMR][1000 genomes]
rs7197746	0.86[AMR][1000 genomes]
rs7202844	0.83[AMR][1000 genomes]
rs7202858	0.86[AMR][1000 genomes]
rs7202877	0.86[AMR][1000 genomes]
rs72802357	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72802358	0.94[ASN][1000 genomes]
rs72802365	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72802372	0.86[AMR][1000 genomes]
rs72802375	0.86[AMR][1000 genomes]
rs72802395	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8053595	0.80[AMR][1000 genomes]
rs8056814	0.96[EUR][1000 genomes]
rs889512	0.94[ASN][1000 genomes]
rs9936550	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9940370	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer 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 target site	111 gene(s)	inside rSNPs	diseases
3	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
4	nsv1056082	chr16:75004990-75295847	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv833282	chr16:75154171-75330634	Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv516504	chr16:75223491-75306402	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv523405	chr16:75227969-75342846	Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	esv1806781	chr16:75235390-75307470	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv906909	chr16:75236154-75316074	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	esv1792587	chr16:75237936-75305783	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	nsv482197	chr16:75237995-75241072	Enhancers Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75235400-75241800	Weak transcription	Fetal Muscle Leg	muscle
2	chr16:75240000-75241200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr16:75240000-75241200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr16:75240200-75241000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr16:75240200-75241000	Transcr. at gene 5' and 3'	Pancreas	Pancrea
6	chr16:75240200-75241000	Enhancers	GM12878-XiMat	blood
7	chr16:75240400-75241000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr16:75240400-75241000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr16:75240400-75241400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr16:75240400-75242200	Enhancers	Spleen	Spleen
11	chr16:75240400-75243200	Enhancers	HSMMtube	muscle
12	chr16:75240600-75241200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr16:75240600-75241400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr16:75240800-75241000	Enhancers	HSMM	muscle
15	chr16:75240800-75241800	Enhancers	Placenta	Placenta

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