Variant report

Variant	rs562296949
Chromosome Location	chr16:75252599-75252600
allele	C/G
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	TCF12	chr16:75252170-75252709	GM12878	blood:	n/a	chr16:75252647-75252654 chr16:75252696-75252706
2	RUNX3	chr16:75252031-75252628	GM12878	blood:	n/a	n/a
3	TCF12	chr16:75252115-75252668	GM12878	blood:	n/a	chr16:75252647-75252654
4	CEBPB	chr16:75252586-75252789	HepG2	liver:	n/a	n/a
5	NFIC	chr16:75252030-75252622	GM12878	blood:	n/a	n/a
6	BATF	chr16:75252126-75252601	GM12878	blood:	n/a	chr16:75252274-75252284 chr16:75252239-75252247
7	PAX5	chr16:75252072-75252634	GM12878	blood:	n/a	chr16:75252235-75252244
8	STAT5A	chr16:75252121-75252612	GM12878	blood:	n/a	chr16:75252235-75252246 chr16:75252522-75252545 chr16:75252273-75252282 chr16:75252272-75252281
9	RUNX3	chr16:75252087-75252601	GM12878	blood:	n/a	n/a
10	EBF1	chr16:75252183-75252619	GM12878	blood:	n/a	n/a
11	MTA3	chr16:75252039-75252772	GM12878	blood:	n/a	n/a
12	FOXM1	chr16:75252034-75252631	GM12878	blood:	n/a	n/a
13	SPI1	chr16:75252429-75252693	GM12891	blood:	n/a	n/a
14	TCF3	chr16:75252182-75252618	GM12878	blood:	n/a	chr16:75252544-75252558 chr16:75252345-75252358
15	TCF3	chr16:75252097-75252706	GM12878	blood:	n/a	chr16:75252544-75252558 chr16:75252345-75252358

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:75251309..75253963-chr16:75256152..75258523,2	K562	blood:

Variant related genes	Relation type
CTRB1	TF binding region
ENSG00000168925	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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	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
11	nsv906910	chr16:75251299-75316074	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
12	nsv906911	chr16:75252526-75296247	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	nsv906912	chr16:75252526-75320827	Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75246800-75261000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr16:75249400-75254000	Enhancers	Placenta	Placenta
3	chr16:75250200-75254000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr16:75251400-75256200	Weak transcription	Right Atrium	heart
5	chr16:75251600-75261600	Weak transcription	HMEC	breast
6	chr16:75252200-75252600	Enhancers	Primary B cells from peripheral blood	blood
7	chr16:75252200-75252600	Enhancers	Brain Angular Gyrus	brain
8	chr16:75252200-75252600	Flanking Active TSS	GM12878-XiMat	blood
9	chr16:75252200-75253000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr16:75252200-75253200	Enhancers	Brain Anterior Caudate	brain
11	chr16:75252200-75253200	Enhancers	Brain Cingulate Gyrus	brain
12	chr16:75252200-75253400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr16:75252200-75253400	Enhancers	HSMM	muscle
14	chr16:75252200-75253600	Flanking Bivalent TSS/Enh	HepG2	liver
15	chr16:75252200-75254000	Enhancers	Brain Substantia Nigra	brain
16	chr16:75252200-75255000	Active TSS	Pancreas	Pancrea
17	chr16:75252400-75252600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr16:75252400-75252600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
19	chr16:75252400-75252600	Enhancers	Spleen	Spleen
20	chr16:75252400-75253200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr16:75252400-75253200	Enhancers	Fetal Muscle Leg	muscle
22	chr16:75252400-75253200	Enhancers	HSMMtube	muscle
23	chr16:75252400-75253400	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr16:75252400-75253400	Enhancers	Dnd41	blood
25	chr16:75252400-75253800	Enhancers	Brain Hippocampus Middle	brain

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