Variant report

Variant	rs72543558
Chromosome Location	chr20:1645573-1645574
allele	-/A/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	EBF1	chr20:1645541-1645950	GM12878	blood:	n/a	chr20:1645785-1645796
2	ELF1	chr20:1645239-1646153	GM12878	blood:	n/a	n/a
3	ATF2	chr20:1645510-1646022	GM12878	blood:	n/a	n/a
4	BCL3	chr20:1645525-1645977	GM12878	blood:	n/a	chr20:1645725-1645734 chr20:1645691-1645700
5	NFIC	chr20:1645509-1645902	GM12878	blood:	n/a	n/a
6	STAT5A	chr20:1645476-1646212	GM12878	blood:	n/a	n/a
7	MTA3	chr20:1645339-1645957	GM12878	blood:	n/a	n/a
8	MTA3	chr20:1645489-1645914	GM12878	blood:	n/a	n/a
9	ETS1	chr20:1645528-1645861	GM12878	blood:	n/a	chr20:1645742-1645753 chr20:1645722-1645735 chr20:1645720-1645734 chr20:1645723-1645734 chr20:1645740-1645754 chr20:1645722-1645733
10	STAT5A	chr20:1645546-1646072	GM12878	blood:	n/a	n/a
11	BCLAF1	chr20:1645421-1645899	GM12878	blood:	n/a	chr20:1645725-1645734 chr20:1645691-1645700
12	SP1	chr20:1645484-1645923	GM12878	blood:	n/a	n/a
13	EBF1	chr20:1645480-1646075	GM12878	blood:	n/a	chr20:1645785-1645796
14	FOXM1	chr20:1645456-1646041	GM12878	blood:	n/a	n/a
15	RUNX3	chr20:1645438-1646133	GM12878	blood:	n/a	n/a
16	PAX5	chr20:1645525-1646006	GM12878	blood:	n/a	chr20:1645725-1645734
17	MAX	chr20:1645205-1645972	NB4	blood:	n/a	n/a
18	BCL11A	chr20:1645573-1645931	GM12878	blood:	n/a	chr20:1645725-1645734 chr20:1645691-1645700
19	NFIC	chr20:1645335-1646181	GM12878	blood:	n/a	n/a
20	ELF1	chr20:1645526-1645982	GM12878	blood:	n/a	n/a
21	RUNX3	chr20:1645438-1646007	GM12878	blood:	n/a	n/a
22	PML	chr20:1645471-1646074	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
RN7SL561P	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv585206	chr20:1386473-1714362	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv2758509	chr20:1476781-1679256	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	esv2758777	chr20:1476781-1679256	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv428374	chr20:1476781-1679256	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv912596	chr20:1486637-1877150	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv1057036	chr20:1493425-1869281	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv912597	chr20:1500506-1877150	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	nsv833894	chr20:1519433-1753366	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv1063015	chr20:1531131-1674430	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv531473	chr20:1532476-1864506	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
11	esv3454857	chr20:1545594-1674850	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	esv3454856	chr20:1545691-1674811	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	esv3454858	chr20:1545691-1674811	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
14	esv1806656	chr20:1553470-1651867	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	nsv965828	chr20:1645204-1650627	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
16	esv3501549	chr20:1645258-1649732	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
17	esv3501550	chr20:1645258-1649732	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1638600-1649400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr20:1639000-1645800	Enhancers	Primary T cells fromperipheralblood	blood
3	chr20:1642800-1645800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr20:1644000-1647200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr20:1644200-1645800	Enhancers	Dnd41	blood
6	chr20:1644200-1646000	Enhancers	HMEC	breast
7	chr20:1644200-1646000	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr20:1644400-1646000	Enhancers	Primary hematopoietic stem cells	blood
9	chr20:1644400-1646200	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr20:1644400-1646200	Enhancers	Spleen	Spleen
11	chr20:1644400-1646400	Enhancers	Primary B cells from cord blood	blood
12	chr20:1644400-1646400	Enhancers	Primary B cells from peripheral blood	blood
13	chr20:1644400-1648600	Enhancers	Fetal Thymus	thymus
14	chr20:1644600-1646200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr20:1644800-1646200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr20:1644800-1646600	Enhancers	GM12878-XiMat	blood
17	chr20:1644800-1646800	Flanking Active TSS	Primary T cells from cord blood	blood
18	chr20:1645000-1645800	Enhancers	Thymus	Thymus
19	chr20:1645200-1646000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
20	chr20:1645200-1646000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
21	chr20:1645200-1646200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr20:1645200-1646400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
23	chr20:1645400-1645800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr20:1645400-1646000	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr20:1645400-1646200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr20:1645400-1646200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr20:1645400-1646200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr20:1645400-1646200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood

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