Variant report

Variant	rs375698443
Chromosome Location	chr22:20326274-20326275
allele	A/T
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	FOSL2	chr22:20326129-20326519	HepG2	liver:	n/a	n/a
2	USF1	chr22:20326147-20326451	HepG2	liver:	n/a	n/a
3	BCL11A	chr22:20326174-20326459	GM12878	blood:	n/a	n/a
4	SIN3AK20	chr22:20326130-20326401	HepG2	liver:	n/a	n/a
5	POLR2A	chr22:20325340-20326547	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr22:20326207-20326451	K562	blood:	n/a	n/a
7	POU2F2	chr22:20326190-20326453	GM12878	blood:	n/a	n/a
8	IRF4	chr22:20326177-20326503	GM12878	blood:	n/a	n/a
9	ZBTB33	chr22:20326160-20326474	K562	blood:	n/a	n/a
10	PAX5	chr22:20326189-20326452	GM12878	blood:	n/a	n/a
11	POU2F2	chr22:20326228-20326452	GM12878	blood:	n/a	n/a
12	PAX5	chr22:20326166-20326497	GM12878	blood:	n/a	n/a
13	BATF	chr22:20326170-20326467	GM12878	blood:	n/a	n/a
14	SPI1	chr22:20326170-20326458	K562	blood:	n/a	n/a
15	BCL11A	chr22:20326163-20326485	GM12878	blood:	n/a	n/a
16	ZBTB33	chr22:20326133-20326491	HepG2	liver:	n/a	n/a
17	GABPA	chr22:20326189-20326522	Hela-S3	cervix:	n/a	n/a
18	ZBTB33	chr22:20326138-20326576	GM12878	blood:	n/a	n/a
19	TCF3	chr22:20326190-20326321	GM12878	blood:	n/a	n/a
20	JUND	chr22:20326175-20326458	HepG2	liver:	n/a	n/a
21	SPI1	chr22:20326188-20326581	GM12878	blood:	n/a	n/a
22	SP1	chr22:20326106-20326495	GM12878	blood:	n/a	n/a
23	TCF12	chr22:20326203-20326518	GM12878	blood:	n/a	n/a
24	SP1	chr22:20326156-20326307	HepG2	liver:	n/a	n/a
25	POLR2A	chr22:20326177-20326460	H1-hESC	embryonic stem cell:	n/a	n/a
26	SIX5	chr22:20326171-20326483	K562	blood:	n/a	n/a
27	PBX3	chr22:20326188-20326446	GM12878	blood:	n/a	n/a
28	POLR2A	chr22:20325566-20326373	K562	blood:	n/a	n/a
29	EP300	chr22:20326186-20326454	GM12878	blood:	n/a	n/a
30	TAF1	chr22:20326177-20326342	Hela-S3	cervix:	n/a	n/a
31	EP300	chr22:20326155-20326512	GM12878	blood:	n/a	n/a
32	ZBTB33	chr22:20326144-20326610	K562	blood:	n/a	n/a
33	SPI1	chr22:20326149-20326318	GM12878	blood:	n/a	n/a
34	RXRA	chr22:20326132-20326507	GM12878	blood:	n/a	n/a
35	GATA2	chr22:20326150-20326491	K562	blood:	n/a	n/a
36	ZBTB33	chr22:20326189-20326514	GM12878	blood:	n/a	n/a
37	BHLHE40	chr22:20326109-20326473	HepG2	liver:	n/a	n/a
38	REST	chr22:20326145-20326496	GM12878	blood:	n/a	n/a
39	POU2F2	chr22:20326152-20326494	GM12878	blood:	n/a	n/a
40	PAX5	chr22:20326162-20326478	GM12878	blood:	n/a	n/a
41	USF1	chr22:20326147-20326513	HepG2	liver:	n/a	n/a
42	CTCF	chr22:20326168-20326385	K562	blood:	n/a	n/a
43	HEY1	chr22:20326143-20326329	HepG2	liver:	n/a	n/a
44	FOXA2	chr22:20326190-20326998	A549	lung:	n/a	n/a
45	ZBTB33	chr22:20326189-20326441	HepG2	liver:	n/a	n/a
46	JUND	chr22:20326147-20326441	HepG2	liver:	n/a	n/a
47	SIX5	chr22:20326145-20326393	GM12878	blood:	n/a	n/a
48	PAX5	chr22:20326189-20326523	GM12878	blood:	n/a	n/a
49	POLR2A	chr22:20326125-20326438	HepG2	liver:	n/a	n/a
50	TCF12	chr22:20326178-20326464	GM12878	blood:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000188424	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1793574	chr22:20075870-20728868	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv914332	chr22:20082961-20339310	Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv914337	chr22:20087539-20330895	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	esv1832132	chr22:20089802-20728868	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
5	nsv1061349	chr22:20091394-20734304	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer 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 miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
6	esv1804395	chr22:20093565-20485443	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
7	esv1850291	chr22:20093565-20666528	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
8	esv1824760	chr22:20093565-20728868	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
9	nsv1062789	chr22:20100465-20749579	Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
10	nsv869949	chr22:20126918-20719112	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	68 gene(s)	inside rSNPs	diseases
11	nsv914360	chr22:20165632-20339310	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
12	nsv588253	chr22:20287286-20344527	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
13	esv1847376	chr22:20295573-20485443	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
14	esv1812390	chr22:20301036-20367573	Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
15	nsv471478	chr22:20305447-20504066	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
16	nsv471543	chr22:20305447-20504066	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
17	nsv518950	chr22:20306993-20965555	Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
18	nsv432174	chr22:20309346-21102446	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
19	esv33990	chr22:20311733-20659576	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
20	esv1798888	chr22:20311906-20696554	Weak transcription ZNF genes & repeats Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
21	esv1823522	chr22:20311906-20707910	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
22	esv1833325	chr22:20311906-20728868	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
23	esv1798085	chr22:20311941-20671459	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
24	nsv820540	chr22:20312152-20509431	Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
25	esv20893	chr22:20312593-20426796	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
26	esv9931	chr22:20312593-20509401	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
27	nsv914376	chr22:20313299-20611404	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
28	nsv914377	chr22:20313299-20736315	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
29	esv1829347	chr22:20314496-20681065	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
30	esv1801103	chr22:20314496-20707910	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
31	esv1820300	chr22:20314496-20707910	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
32	esv1793897	chr22:20316597-20705517	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
33	esv1835209	chr22:20318932-20424850	Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
34	esv1796512	chr22:20319181-20706318	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
35	esv1818453	chr22:20319181-20711473	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
36	nsv962756	chr22:20321676-20327526	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
37	nsv510803	chr22:20323127-20702250	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
38	esv13822	chr22:20324342-20326990	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
39	esv3330850	chr22:20324452-20327950	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
40	esv3332045	chr22:20324452-20327950	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
41	esv3391256	chr22:20324452-20327950	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
42	esv12260	chr22:20325359-20327061	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
43	esv3355703	chr22:20326052-20331450	Flanking Active TSS Enhancers Weak transcription	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:20309200-20327000	Weak transcription	Right Atrium	heart
2	chr22:20325800-20326400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr22:20325800-20326400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr22:20325800-20326400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr22:20326200-20326400	Enhancers	HUES64 Cell Line	embryonic stem cell

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