Variant report

Variant	rs9928749
Chromosome Location	chr16:31306320-31306321
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:31190510..31192547-chr16:31304719..31307544,2	K562	blood:
2	chr16:31227286..31229689-chr16:31304037..31306749,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000089280	Chromatin interaction
ENSG00000169900	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs11150615	1.00[ASN][1000 genomes]
rs1143678	1.00[ASN][1000 genomes]
rs1143679	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1143683	1.00[ASN][1000 genomes]
rs11574636	1.00[ASN][1000 genomes]
rs11574637	1.00[ASN][1000 genomes]
rs11859300	1.00[ASN][1000 genomes]
rs11859349	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11860650	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11861161	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11864503	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11864541	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11864813	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11865746	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12102768	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12102791	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12103025	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12917874	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12920597	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12928725	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12928810	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12935156	0.81[EUR][1000 genomes]
rs13331557	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13338069	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28385574	1.00[ASN][1000 genomes]
rs28773820	1.00[ASN][1000 genomes]
rs28825532	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28834423	1.00[ASN][1000 genomes]
rs28855735	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34082782	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34572943	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34767000	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34770440	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35314490	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35383035	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35472514	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36001237	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36055763	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41476751	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4548893	1.00[ASN][1000 genomes]
rs4632147	1.00[ASN][1000 genomes]
rs58408589	1.00[ASN][1000 genomes]
rs59559257	1.00[ASN][1000 genomes]
rs60312440	1.00[ASN][1000 genomes]
rs6565227	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6565228	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67898294	1.00[ASN][1000 genomes]
rs71389500	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71390269	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71391210	1.00[ASN][1000 genomes]
rs7184339	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7184677	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7187713	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7190018	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7190807	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7192039	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7193268	1.00[ASN][1000 genomes]
rs7198598	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7199496	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7199532	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7200615	1.00[ASN][1000 genomes]
rs7204735	1.00[ASN][1000 genomes]
rs7206312	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73534420	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8056276	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8056944	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9745421	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9888739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9888879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9922766	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9923357	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9923767	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9928372	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9930524	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9933520	1.00[ASN][1000 genomes]
rs9933937	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9936831	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9937645	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9938063	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9939679	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9940397	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1059459	chr16:31299088-31462251	Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv542901	chr16:31299088-31462251	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	esv1817837	chr16:31301125-31331958	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	esv3392534	chr16:31303038-31573066	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	104 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31290000-31310200	Weak transcription	Spleen	Spleen
2	chr16:31296800-31308800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr16:31303000-31306600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr16:31304200-31307400	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr16:31304600-31313400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr16:31305000-31312800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr16:31305200-31311600	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr16:31306000-31309200	Weak transcription	Primary B cells from cord blood	blood
9	chr16:31306000-31311600	Strong transcription	Primary monocytes fromperipheralblood	blood

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