Variant report

Variant	rs4583238
Chromosome Location	chr16:48529560-48529561
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	NFYB	chr16:48529213-48529607	Hela-S3	cervix:	n/a	n/a
2	SETDB1	chr16:48528981-48530056	U2OS	brain:	n/a	n/a
3	USF1	chr16:48529166-48529595	H1-hESC	embryonic stem cell:	n/a	n/a
4	NFYB	chr16:48529221-48529590	K562	blood:	n/a	n/a
5	NFYB	chr16:48529185-48529612	GM12878	blood:	n/a	n/a
6	USF1	chr16:48529140-48529589	HCT-116	colon:	n/a	n/a
7	USF1	chr16:48529201-48529579	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:48522013..48524247-chr16:48528061..48530127,2	K562	blood:

Variant related genes	Relation type
MOCS1P1	TF binding region
ENSG00000239013	TF binding region

Extended variants
information (count: 156 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:149)

rs_ID	r²[population]
rs13330237	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13339188	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16946042	1.00[AMR][1000 genomes]
rs16946044	1.00[AMR][1000 genomes]
rs16946046	1.00[AMR][1000 genomes]
rs16946047	1.00[AMR][1000 genomes]
rs16946049	1.00[AMR][1000 genomes]
rs16946050	1.00[AMR][1000 genomes]
rs16946055	1.00[AMR][1000 genomes]
rs16946056	1.00[AMR][1000 genomes]
rs16946077	1.00[AMR][1000 genomes]
rs16946084	1.00[AMR][1000 genomes]
rs16946088	1.00[AMR][1000 genomes]
rs16946097	1.00[AMR][1000 genomes]
rs16946106	1.00[AMR][1000 genomes]
rs16946113	1.00[AMR][1000 genomes]
rs16946115	1.00[AMR][1000 genomes]
rs16946118	1.00[AMR][1000 genomes]
rs16946120	1.00[AMR][1000 genomes]
rs16946145	1.00[AMR][1000 genomes]
rs16946162	1.00[AMR][1000 genomes]
rs16946199	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2046528	1.00[AMR][1000 genomes]
rs2046529	1.00[AMR][1000 genomes]
rs2046530	1.00[AMR][1000 genomes]
rs28387003	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28407298	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28699264	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28722105	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34437640	1.00[AMR][1000 genomes]
rs35730749	1.00[AMR][1000 genomes]
rs4619404	1.00[AMR][1000 genomes]
rs55650659	1.00[AMR][1000 genomes]
rs55650780	1.00[AMR][1000 genomes]
rs55727534	1.00[AMR][1000 genomes]
rs55759468	1.00[AMR][1000 genomes]
rs55767683	1.00[AMR][1000 genomes]
rs55791428	1.00[AMR][1000 genomes]
rs55894153	1.00[AMR][1000 genomes]
rs55945004	1.00[AMR][1000 genomes]
rs56056936	1.00[AMR][1000 genomes]
rs56153325	1.00[AMR][1000 genomes]
rs56252717	1.00[AMR][1000 genomes]
rs56270052	1.00[AMR][1000 genomes]
rs56403551	1.00[AMR][1000 genomes]
rs56739366	1.00[AMR][1000 genomes]
rs57031394	1.00[AMR][1000 genomes]
rs57276104	1.00[AMR][1000 genomes]
rs57435271	1.00[AMR][1000 genomes]
rs57646139	1.00[AMR][1000 genomes]
rs57760532	1.00[AMR][1000 genomes]
rs57815195	1.00[AMR][1000 genomes]
rs57850865	1.00[AMR][1000 genomes]
rs57858756	1.00[AMR][1000 genomes]
rs58068024	1.00[AMR][1000 genomes]
rs58095119	1.00[AMR][1000 genomes]
rs58531648	1.00[AMR][1000 genomes]
rs58909828	1.00[AMR][1000 genomes]
rs58952249	1.00[AMR][1000 genomes]
rs59103644	1.00[AMR][1000 genomes]
rs59174783	1.00[AMR][1000 genomes]
rs59247940	1.00[AMR][1000 genomes]
rs59893238	1.00[AMR][1000 genomes]
rs59966044	1.00[AMR][1000 genomes]
rs60162759	1.00[AMR][1000 genomes]
rs60230358	1.00[AMR][1000 genomes]
rs60461572	1.00[AMR][1000 genomes]
rs60494112	1.00[AMR][1000 genomes]
rs60659794	1.00[AMR][1000 genomes]
rs60731420	1.00[AMR][1000 genomes]
rs60944057	1.00[AMR][1000 genomes]
rs60962209	1.00[AMR][1000 genomes]
rs60983423	1.00[AMR][1000 genomes]
rs61055548	1.00[AMR][1000 genomes]
rs61173366	1.00[AMR][1000 genomes]
rs61238817	1.00[AMR][1000 genomes]
rs61528456	1.00[AMR][1000 genomes]
rs74016355	1.00[AMR][1000 genomes]
rs74016357	1.00[AMR][1000 genomes]
rs74016358	1.00[AMR][1000 genomes]
rs74016362	1.00[AMR][1000 genomes]
rs74016363	1.00[AMR][1000 genomes]
rs74016367	1.00[AMR][1000 genomes]
rs74016372	1.00[AMR][1000 genomes]
rs74016375	1.00[AMR][1000 genomes]
rs74016376	1.00[AMR][1000 genomes]
rs74016377	1.00[AMR][1000 genomes]
rs74016378	1.00[AMR][1000 genomes]
rs74016379	1.00[AMR][1000 genomes]
rs74016381	1.00[AMR][1000 genomes]
rs74016382	1.00[AMR][1000 genomes]
rs74016383	1.00[AMR][1000 genomes]
rs74016384	1.00[AMR][1000 genomes]
rs74016385	1.00[AMR][1000 genomes]
rs74016386	1.00[AMR][1000 genomes]
rs74016387	1.00[AMR][1000 genomes]
rs74016388	1.00[AMR][1000 genomes]
rs74016389	1.00[AMR][1000 genomes]
rs74016390	1.00[AMR][1000 genomes]
rs74016391	1.00[AMR][1000 genomes]
rs74016392	1.00[AMR][1000 genomes]
rs74016393	1.00[AMR][1000 genomes]
rs74016394	1.00[AMR][1000 genomes]
rs74016396	1.00[AMR][1000 genomes]
rs74016397	1.00[AMR][1000 genomes]
rs74016398	1.00[AMR][1000 genomes]
rs74016399	1.00[AMR][1000 genomes]
rs74016400	1.00[AMR][1000 genomes]
rs74016401	1.00[AMR][1000 genomes]
rs74016402	1.00[AMR][1000 genomes]
rs74017903	1.00[AMR][1000 genomes]
rs74017904	1.00[AMR][1000 genomes]
rs74017905	1.00[AMR][1000 genomes]
rs74017907	1.00[AMR][1000 genomes]
rs74017908	1.00[AMR][1000 genomes]
rs74017909	1.00[AMR][1000 genomes]
rs74017910	1.00[AMR][1000 genomes]
rs74017913	1.00[AMR][1000 genomes]
rs74017914	1.00[AMR][1000 genomes]
rs74017917	1.00[AMR][1000 genomes]
rs74017920	1.00[AMR][1000 genomes]
rs74017922	1.00[AMR][1000 genomes]
rs74017923	1.00[AMR][1000 genomes]
rs74017924	1.00[AMR][1000 genomes]
rs74017927	1.00[AMR][1000 genomes]
rs74017928	1.00[AMR][1000 genomes]
rs74017929	1.00[AMR][1000 genomes]
rs74017930	1.00[AMR][1000 genomes]
rs74017931	1.00[AMR][1000 genomes]
rs74017932	1.00[AMR][1000 genomes]
rs74017933	1.00[AMR][1000 genomes]
rs74017934	1.00[AMR][1000 genomes]
rs74017935	1.00[AMR][1000 genomes]
rs74017938	1.00[AMR][1000 genomes]
rs74017943	1.00[AMR][1000 genomes]
rs74017945	1.00[AMR][1000 genomes]
rs74017946	1.00[AMR][1000 genomes]
rs74017947	1.00[AMR][1000 genomes]
rs74017948	1.00[AMR][1000 genomes]
rs74017950	1.00[AMR][1000 genomes]
rs74017951	1.00[AMR][1000 genomes]
rs74017952	1.00[AMR][1000 genomes]
rs74017955	1.00[AMR][1000 genomes]
rs74017956	1.00[AMR][1000 genomes]
rs9925219	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9926097	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9928523	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9937947	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9940809	0.98[AFR][1000 genomes];1.00[AMR][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	nsv1061316	chr16:48264175-48594219	Weak transcription Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS 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	38 gene(s)	inside rSNPs	diseases
2	esv1800739	chr16:48418505-48560315	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	nsv428658	chr16:48438656-48587750	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	esv1817281	chr16:48509311-48537421	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv1842977	chr16:48509311-48537421	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv1849228	chr16:48509311-48537421	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1065358	chr16:48513824-48554254	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48525400-48532200	Weak transcription	Right Atrium	heart
2	chr16:48526400-48533000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr16:48528800-48532400	Weak transcription	Fetal Kidney	kidney
4	chr16:48529400-48529600	ZNF genes & repeats	Brain Cingulate Gyrus	brain
5	chr16:48529400-48529600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
6	chr16:48529400-48529800	Enhancers	Fetal Stomach	stomach

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