Variant report

Variant	rs57534452
Chromosome Location	chr22:20378162-20378163
allele	-/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	POLR2A	chr22:20377868-20379130	A549	lung:	n/a	n/a
2	IRF4	chr22:20377877-20378602	GM12878	blood:	n/a	n/a
3	SPI1	chr22:20377780-20378191	GM12878	blood:	n/a	n/a
4	JUND	chr22:20378102-20378307	HepG2	liver:	n/a	n/a
5	MYBL2	chr22:20377951-20378366	HepG2	liver:	n/a	n/a
6	TCF3	chr22:20377774-20378519	GM12878	blood:	n/a	n/a
7	POLR2A	chr22:20377603-20379158	GM12892	blood:	n/a	n/a
8	GATA2	chr22:20377389-20378895	K562	blood:	n/a	n/a
9	POLR2A	chr22:20377771-20379753	PFSK-1	brain:	n/a	n/a
10	POU2F2	chr22:20377604-20379620	GM12878	blood:	n/a	n/a
11	CBX3	chr22:20377744-20379764	K562	blood:	n/a	n/a
12	POLR2A	chr22:20377738-20378567	GM12878	blood:	n/a	n/a
13	ZBTB33	chr22:20377680-20378862	K562	blood:	n/a	n/a
14	POLR2A	chr22:20377758-20378940	GM12892	blood:	n/a	n/a
15	CTCF	chr22:20377628-20379934	K562	blood:	n/a	chr22:20379024-20379033
16	SPI1	chr22:20377716-20378604	K562	blood:	n/a	n/a
17	PAX5	chr22:20377643-20379736	GM12878	blood:	n/a	chr22:20378173-20378182
18	POLR2A	chr22:20377733-20378590	H1-hESC	embryonic stem cell:	n/a	n/a
19	STAT5A	chr22:20378138-20379186	K562	blood:	n/a	chr22:20379063-20379075
20	POLR2A	chr22:20377739-20378559	GM12892	blood:	n/a	n/a
21	POLR2A	chr22:20378126-20379536	PFSK-1	brain:	n/a	n/a
22	POLR2A	chr22:20377893-20378554	GM12891	blood:	n/a	n/a
23	POLR2A	chr22:20377890-20378569	A549	lung:	n/a	n/a
24	SRF	chr22:20377905-20378559	GM12878	blood:	n/a	n/a
25	TAF1	chr22:20377806-20378571	H1-hESC	embryonic stem cell:	n/a	n/a
26	HEY1	chr22:20377686-20379853	K562	blood:	n/a	chr22:20379738-20379753 chr22:20379231-20379246 chr22:20379741-20379756 chr22:20379003-20379018
27	SIN3AK20	chr22:20377770-20379596	HepG2	liver:	n/a	n/a
28	TAF1	chr22:20377709-20379911	HepG2	liver:	n/a	n/a
29	TAF1	chr22:20377637-20378587	H1-hESC	embryonic stem cell:	n/a	n/a
30	TAF1	chr22:20377787-20379048	HepG2	liver:	n/a	n/a
31	POLR2A	chr22:20377602-20379783	GM12878	blood:	n/a	n/a
32	EBF1	chr22:20378104-20378388	GM12878	blood:	n/a	n/a
33	POLR2A	chr22:20378152-20379005	MCF-7	breast:	n/a	n/a
34	POLR2A	chr22:20377637-20379087	GM12892	blood:	n/a	n/a
35	HEY1	chr22:20377640-20378578	K562	blood:	n/a	n/a
36	ZBTB33	chr22:20377759-20378541	K562	blood:	n/a	n/a
37	POLR2A	chr22:20378150-20378585	A549	lung:	n/a	n/a
38	PAX5	chr22:20377690-20378578	GM12878	blood:	n/a	chr22:20378173-20378182
39	NR2F2	chr22:20377098-20379618	K562	blood:	n/a	n/a
40	FOSL2	chr22:20377741-20380666	HepG2	liver:	n/a	chr22:20379065-20379074
41	POLR2A	chr22:20378044-20379193	SK-N-MC	brain:	n/a	n/a
42	SIX5	chr22:20377795-20378556	K562	blood:	n/a	n/a
43	POLR2A	chr22:20377871-20378563	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr22:20377591-20379953	H1-hESC	embryonic stem cell:	n/a	n/a
45	EBF1	chr22:20377639-20378594	GM12878	blood:	n/a	n/a
46	POLR2A	chr22:20377799-20378557	H1-hESC	embryonic stem cell:	n/a	n/a
47	RXRA	chr22:20377595-20378207	HepG2	liver:	n/a	n/a
48	HEY1	chr22:20377824-20379717	HepG2	liver:	n/a	chr22:20379231-20379246 chr22:20379003-20379018
49	POLR2A	chr22:20377849-20378558	GM12891	blood:	n/a	n/a
50	POLR2A	chr22:20377750-20379103	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000206176	TF binding region

Extended variants
information (count: 131 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:131 , 50 per page) page: 1 2 3

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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	esv3385645	chr22:20326812-20689666	Active TSS Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
33	esv3415598	chr22:20326818-20689671	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
34	esv1796993	chr22:20327241-20711473	Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
35	esv1827872	chr22:20329759-20716736	Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
36	nsv1059066	chr22:20330744-20845128	Genic enhancers Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
37	nsv914378	chr22:20330895-20462490	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
38	esv1832905	chr22:20345868-20655754	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
39	esv1818209	chr22:20345868-20671459	Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
40	esv1819374	chr22:20345868-20715514	Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
41	esv1802943	chr22:20345868-20719112	Enhancers Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
42	nsv915703	chr22:20345871-20671518	ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
43	nsv916467	chr22:20345871-20708940	Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
44	esv3423878	chr22:20347102-20489800	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
45	esv3456855	chr22:20347602-20507250	Bivalent Enhancer Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
46	esv3456856	chr22:20347602-20507250	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
47	esv1827920	chr22:20348967-20616363	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
48	esv1807275	chr22:20350450-20479568	Strong transcription Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
49	esv1841797	chr22:20353457-20424850	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
50	esv1812603	chr22:20358252-20486791	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:20378000-20378600	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr22:20378000-20378600	Active TSS	Primary hematopoietic stem cells short term culture	blood
3	chr22:20378000-20379000	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr22:20378000-20379000	Active TSS	Primary monocytes fromperipheralblood	blood
5	chr22:20378000-20379000	Active TSS	Primary B cells from peripheral blood	blood
6	chr22:20378000-20379000	Active TSS	Primary T cells fromperipheralblood	blood
7	chr22:20378000-20379000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
8	chr22:20378000-20379000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr22:20378000-20379000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr22:20378000-20379000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
11	chr22:20378000-20379000	Active TSS	Fetal Stomach	stomach
12	chr22:20378000-20379000	Active TSS	Fetal Thymus	thymus
13	chr22:20378000-20379000	Active TSS	Dnd41	blood
14	chr22:20378000-20379000	Active TSS	HepG2	liver
15	chr22:20378000-20379000	Active TSS	HMEC	breast
16	chr22:20378000-20379200	Active TSS	Brain Germinal Matrix	brain
17	chr22:20378000-20379800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr22:20378000-20380000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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