Variant report

Variant	rs72800854
Chromosome Location	chr16:31036237-31036238
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:31035621..31039590-chr16:31042058..31045187,5	K562	blood:
2	chr16:31035543..31037477-chr16:31083304..31086043,4	K562	blood:
3	chr16:31035953..31038692-chr16:31042517..31044556,3	MCF-7	breast:
4	chr16:31035261..31037378-chr16:31084081..31086422,2	K562	blood:
5	chr16:31025052..31029776-chr16:31034018..31036792,4	K562	blood:
6	chr16:31035739..31039592-chr16:31042123..31045685,6	K562	blood:
7	chr16:31035557..31037095-chr16:31190482..31192976,2	MCF-7	breast:
8	chr16:31036111..31038797-chr16:31087110..31088802,2	K562	blood:
9	chr16:31035248..31037260-chr16:31189598..31191683,2	K562	blood:

No data

No data

No data

Variant related genes	Relation type
ENSG00000167395	Chromatin interaction
ENSG00000103496	Chromatin interaction
ENSG00000167394	Chromatin interaction
ENSG00000089280	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs17708472	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17881535	0.82[AMR][1000 genomes]
rs2359674	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs45599534	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs55731737	0.86[EUR][1000 genomes]
rs55908605	0.86[EUR][1000 genomes]
rs6565214	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72785521	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72785525	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72785535	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72800841	0.82[EUR][1000 genomes]
rs72800842	0.85[EUR][1000 genomes]
rs72800845	0.87[EUR][1000 genomes]
rs72800846	0.86[EUR][1000 genomes]
rs72800849	0.88[EUR][1000 genomes]
rs72800858	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8046978	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8047104	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9927295	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv1064134	chr16:30640293-31087327	Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	238 gene(s)	inside rSNPs	diseases
4	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
5	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
6	nsv833191	chr16:30864242-31048051	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	115 gene(s)	inside rSNPs	diseases
7	nsv905734	chr16:30877544-31191482	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
8	nsv905735	chr16:30890538-31247924	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	264 gene(s)	inside rSNPs	diseases
9	nsv457483	chr16:30903679-31191482	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
10	nsv571820	chr16:30903679-31191482	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
11	esv1797877	chr16:30948643-31188432	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
12	nsv833193	chr16:30960796-31133604	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
13	nsv916994	chr16:30971725-31078117	Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31027600-31041600	Weak transcription	Spleen	Spleen
2	chr16:31027800-31043600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr16:31032000-31037000	Weak transcription	A549	lung
4	chr16:31032200-31044000	Weak transcription	Ovary	ovary
5	chr16:31034000-31036800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:31034400-31043600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr16:31034600-31036800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr16:31034800-31043200	Weak transcription	Fetal Muscle Leg	muscle
9	chr16:31035400-31043600	Weak transcription	Fetal Intestine Small	intestine
10	chr16:31035600-31037200	Weak transcription	Gastric	stomach
11	chr16:31036000-31036400	Weak transcription	HepG2	liver
12	chr16:31036000-31037000	Weak transcription	K562	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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