Variant report

Variant	rs543907656
Chromosome Location	chr19:53664560-53664561
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:71)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:71 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TRIM28	chr19:53664412-53664743	K562	blood:	n/a	n/a
2	NR2F2	chr19:53664210-53664959	K562	blood:	n/a	n/a
3	HMGN3	chr19:53664377-53664749	K562	blood:	n/a	n/a
4	MXI1	chr19:53664437-53664705	K562	blood:	n/a	n/a
5	ATF3	chr19:53664416-53664788	K562	blood:	n/a	n/a
6	PAX5	chr19:53664302-53664735	GM12878	blood:	n/a	n/a
7	CCNT2	chr19:53664343-53664849	K562	blood:	n/a	n/a
8	GATA2	chr19:53664262-53664817	K562	blood:	n/a	n/a
9	CUX1	chr19:53664482-53664843	K562	blood:	n/a	n/a
10	TBP	chr19:53664360-53664679	K562	blood:	n/a	n/a
11	HDAC2	chr19:53664442-53664695	K562	blood:	n/a	n/a
12	GATA2	chr19:53664397-53664773	K562	blood:	n/a	n/a
13	TAL1	chr19:53664342-53664869	K562	blood:	n/a	n/a
14	EP300	chr19:53664311-53664855	K562	blood:	n/a	n/a
15	RFX5	chr19:53664496-53664843	K562	blood:	n/a	n/a
16	CBX3	chr19:53664263-53664816	K562	blood:	n/a	n/a
17	GABPA	chr19:53664350-53664704	K562	blood:	n/a	n/a
18	STAT5A	chr19:53664367-53664829	K562	blood:	n/a	n/a
19	MAX	chr19:53664341-53664728	K562	blood:	n/a	n/a
20	YY1	chr19:53664303-53664616	K562	blood:	n/a	n/a
21	MEF2A	chr19:53664434-53664783	K562	blood:	n/a	n/a
22	PML	chr19:53664356-53664808	K562	blood:	n/a	n/a
23	GATA1	chr19:53664324-53664988	K562	blood:	n/a	n/a
24	GATA2	chr19:53664329-53664849	K562	blood:	n/a	n/a
25	TBL1XR1	chr19:53664385-53664794	K562	blood:	n/a	n/a
26	POLR2A	chr19:53664347-53664783	K562	blood:	n/a	n/a
27	PAX5	chr19:53664364-53664625	GM12878	blood:	n/a	n/a
28	CBX3	chr19:53664292-53664796	K562	blood:	n/a	n/a
29	POLR2A	chr19:53664441-53664693	K562	blood:	n/a	n/a
30	ZNF143	chr19:53664373-53664795	K562	blood:	n/a	n/a
31	IRF1	chr19:53664380-53664985	K562	blood:	n/a	n/a
32	MYC	chr19:53664393-53664769	K562	blood:	n/a	n/a
33	ATF1	chr19:53664403-53664837	K562	blood:	n/a	n/a
34	POLR2A	chr19:53664320-53664706	K562	blood:	n/a	n/a
35	MEF2A	chr19:53664393-53664832	K562	blood:	n/a	n/a
36	RCOR1	chr19:53664412-53664845	K562	blood:	n/a	n/a
37	MAX	chr19:53664331-53664742	K562	blood:	n/a	n/a
38	EP300	chr19:53664429-53664774	K562	blood:	n/a	n/a
39	JUN	chr19:53664449-53664820	K562	blood:	n/a	n/a
40	BHLHE40	chr19:53664400-53664738	K562	blood:	n/a	n/a
41	ARID3A	chr19:53664406-53664819	K562	blood:	n/a	n/a
42	IRF1	chr19:53664416-53664876	K562	blood:	n/a	n/a
43	TEAD4	chr19:53664206-53664930	K562	blood:	n/a	n/a
44	HEY1	chr19:53664329-53664579	K562	blood:	n/a	n/a
45	STAT5A	chr19:53664389-53664773	K562	blood:	n/a	n/a
46	RCOR1	chr19:53664368-53664840	K562	blood:	n/a	n/a
47	ZMIZ1	chr19:53664416-53664790	K562	blood:	n/a	n/a
48	EGR1	chr19:53664423-53664714	K562	blood:	n/a	n/a
49	JUND	chr19:53664414-53664815	K562	blood:	n/a	n/a
50	TRIM28	chr19:53664262-53664856	K562	blood:	n/a	n/a

No data

Variant related genes	Relation type
ZNF347	TF binding region
ENSG00000268842	TF binding region

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	nsv530807	chr19:53210488-53695881	Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	esv3326632	chr19:53371248-53697569	Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1065143	chr19:53507142-53853363	Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv544063	chr19:53507142-53853363	ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv1058019	chr19:53507142-53904508	ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv544064	chr19:53507142-53904508	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
7	nsv912342	chr19:53581151-54010759	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv1063630	chr19:53591444-54419183	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	282 gene(s)	inside rSNPs	diseases
9	nsv1055378	chr19:53603268-53951855	Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
10	nsv544065	chr19:53603268-53951855	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	nsv912350	chr19:53636016-53687818	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv912351	chr19:53655493-53702508	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv580077	chr19:53664448-53669492	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Strong transcription	TF binding region CpG island lncRNA	3 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	chr19:53662600-53668800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr19:53662800-53668200	Weak transcription	Pancreas	Pancrea
3	chr19:53663000-53665400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr19:53663000-53665600	Weak transcription	Right Atrium	heart
5	chr19:53663000-53667000	Weak transcription	Brain Hippocampus Middle	brain
6	chr19:53663000-53667600	Weak transcription	Ovary	ovary
7	chr19:53663000-53668000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr19:53664200-53664600	ZNF genes & repeats	Fetal Intestine Large	intestine
9	chr19:53664200-53664600	Flanking Active TSS	K562	blood
10	chr19:53664400-53664600	Enhancers	Fetal Heart	heart
11	chr19:53664400-53664600	ZNF genes & repeats	Gastric	stomach
12	chr19:53664400-53670200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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