Variant report

Variant	rs72802357
Chromosome Location	chr16:75243142-75243143
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	HMGN3	chr16:75243104-75243222	K562	blood:	n/a	n/a
2	POLR2A	chr16:75243012-75243200	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:75239816..75243837-chr16:75256696..75260507,7	MCF-7	breast:
2	chr16:75239080..75244320-chr16:75282735..75286046,5	K562	blood:
3	chr16:75242998..75247373-chr16:75260079..75262691,3	K562	blood:
4	chr16:75242481..75244530-chr16:75245362..75248227,2	K562	blood:

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

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs2870463	0.84[AMR][1000 genomes]
rs60470336	0.90[AMR][1000 genomes]
rs61634868	0.90[AMR][1000 genomes]
rs6564232	0.90[AMR][1000 genomes]
rs6564233	0.90[AMR][1000 genomes]
rs6564235	0.84[AMR][1000 genomes]
rs6564236	0.90[AMR][1000 genomes]
rs6564237	0.84[AMR][1000 genomes]
rs66473537	0.84[AMR][1000 genomes]
rs66502159	0.84[ASN][1000 genomes]
rs66535165	0.90[AMR][1000 genomes]
rs66881382	0.90[AMR][1000 genomes]
rs67478528	0.90[AMR][1000 genomes]
rs7197389	0.90[AMR][1000 genomes]
rs7197746	0.90[AMR][1000 genomes]
rs7202844	0.86[AMR][1000 genomes]
rs7202858	0.90[AMR][1000 genomes]
rs7202877	0.90[AMR][1000 genomes]
rs72802352	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72802358	1.00[ASN][1000 genomes]
rs72802365	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72802372	0.90[AMR][1000 genomes]
rs72802375	0.90[AMR][1000 genomes]
rs72802395	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8053595	0.84[AMR][1000 genomes]
rs8056814	0.96[EUR][1000 genomes]
rs889512	0.89[ASN][1000 genomes]
rs9921586	0.81[AMR][1000 genomes]
rs9936550	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9940370	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75240400-75243200	Enhancers	HSMMtube	muscle
2	chr16:75241200-75243400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr16:75241200-75245400	Enhancers	Pancreas	Pancrea
4	chr16:75241200-75248800	Weak transcription	Fetal Intestine Small	intestine
5	chr16:75241800-75243400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:75241800-75243400	Enhancers	Fetal Muscle Leg	muscle
7	chr16:75242000-75243400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr16:75242200-75243200	Weak transcription	Spleen	Spleen
9	chr16:75242200-75243200	Enhancers	HSMM	muscle
10	chr16:75242600-75244000	Enhancers	Placenta	Placenta
11	chr16:75243000-75243200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin

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