Variant report

Variant	rs16945813
Chromosome Location	chr16:48151034-48151035
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	CTCF	chr16:48150940-48151090	GM12865	blood:	n/a	n/a
2	RAD21	chr16:48151000-48152004	SK-N-SH	brain:	n/a	chr16:48151689-48151699 chr16:48151544-48151563 chr16:48151547-48151560 chr16:48151550-48151564 chr16:48151687-48151700 chr16:48151295-48151308
3	GTF2F1	chr16:48150960-48151081	K562	blood:	n/a	n/a
4	POLR2A	chr16:48151019-48151058	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ABCC12	TF binding region

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs11861448	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11864016	1.00[EUR][1000 genomes]
rs11864570	1.00[EUR][1000 genomes]
rs12103132	1.00[EUR][1000 genomes]
rs13330281	1.00[EUR][1000 genomes]
rs13330882	1.00[EUR][1000 genomes]
rs13331266	1.00[EUR][1000 genomes]
rs13333718	1.00[EUR][1000 genomes]
rs13334423	1.00[EUR][1000 genomes]
rs13334475	1.00[EUR][1000 genomes]
rs13335010	1.00[EUR][1000 genomes]
rs1345425	1.00[EUR][1000 genomes]
rs16945786	1.00[EUR][1000 genomes]
rs16945816	1.00[EUR][1000 genomes]
rs16945819	1.00[EUR][1000 genomes]
rs16945824	1.00[EUR][1000 genomes]
rs16945828	1.00[EUR][1000 genomes]
rs16945831	1.00[EUR][1000 genomes]
rs16945835	1.00[EUR][1000 genomes]
rs16945839	1.00[EUR][1000 genomes]
rs16945860	1.00[EUR][1000 genomes]
rs2016940	1.00[EUR][1000 genomes]
rs28431782	1.00[EUR][1000 genomes]
rs28526661	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28531369	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28587611	1.00[EUR][1000 genomes]
rs28592871	1.00[EUR][1000 genomes]
rs28669266	1.00[EUR][1000 genomes]
rs34106426	1.00[EUR][1000 genomes]
rs4785405	1.00[EUR][1000 genomes]
rs56093600	1.00[EUR][1000 genomes]
rs57124014	1.00[EUR][1000 genomes]
rs57432729	1.00[EUR][1000 genomes]
rs57740199	1.00[EUR][1000 genomes]
rs58204235	1.00[EUR][1000 genomes]
rs58622309	1.00[EUR][1000 genomes]
rs59311846	1.00[EUR][1000 genomes]
rs59312258	1.00[EUR][1000 genomes]
rs59466391	1.00[EUR][1000 genomes]
rs59528776	1.00[EUR][1000 genomes]
rs59766379	1.00[EUR][1000 genomes]
rs59832329	1.00[EUR][1000 genomes]
rs59966196	1.00[EUR][1000 genomes]
rs6500304	1.00[EUR][1000 genomes]
rs6500305	1.00[EUR][1000 genomes]
rs7187069	1.00[EUR][1000 genomes]
rs7197701	1.00[EUR][1000 genomes]
rs7203314	1.00[EUR][1000 genomes]
rs73540833	1.00[EUR][1000 genomes]
rs73540845	1.00[EUR][1000 genomes]
rs73540853	1.00[EUR][1000 genomes]
rs74018249	1.00[EUR][1000 genomes]
rs74018255	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8046592	1.00[EUR][1000 genomes]
rs8048367	1.00[EUR][1000 genomes]
rs8056553	1.00[EUR][1000 genomes]
rs8058288	1.00[EUR][1000 genomes]
rs9302750	1.00[EUR][1000 genomes]
rs939360	1.00[EUR][1000 genomes]
rs939362	1.00[EUR][1000 genomes]
rs961668	1.00[EUR][1000 genomes]
rs9925287	1.00[EUR][1000 genomes]
rs9926338	1.00[EUR][1000 genomes]
rs9933094	1.00[EUR][1000 genomes]
rs9933277	1.00[EUR][1000 genomes]
rs9935027	1.00[EUR][1000 genomes]
rs9936500	1.00[EUR][1000 genomes]
rs9936532	1.00[EUR][1000 genomes]
rs9938810	1.00[EUR][1000 genomes]
rs9940987	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520355	chr16:47424828-48164777	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1059259	chr16:48113396-48304404	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv542916	chr16:48113396-48304404	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr16:48146400-48160600	Weak transcription	Right Atrium	heart
2	chr16:48147400-48151400	Weak transcription	Pancreas	Pancrea
3	chr16:48147600-48160600	Weak transcription	Psoas Muscle	Psoas
4	chr16:48149600-48151200	Weak transcription	Right Ventricle	heart
5	chr16:48150600-48151400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr16:48151000-48151200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
7	chr16:48151000-48151200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr16:48151000-48151200	Bivalent Enhancer	HepG2	liver
9	chr16:48151000-48152200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr16:48151000-48152800	Enhancers	A549	lung
11	chr16:48151000-48153200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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