Variant report

Variant	rs549731520
Chromosome Location	chr22:20339046-20339047
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	SPI1	chr22:20338626-20339195	K562	blood:	n/a	n/a
2	ZBTB33	chr22:20338593-20339243	K562	blood:	n/a	chr22:20338937-20338946
3	SIX5	chr22:20338662-20340261	K562	blood:	n/a	n/a
4	FOSL2	chr22:20338644-20339180	HepG2	liver:	n/a	chr22:20338829-20338839 chr22:20338829-20338840 chr22:20338829-20338839 chr22:20338828-20338840 chr22:20338830-20338838
5	FOSL2	chr22:20338558-20339154	HepG2	liver:	n/a	chr22:20338829-20338839 chr22:20338829-20338840 chr22:20338829-20338839 chr22:20338828-20338840 chr22:20338830-20338838
6	ZBTB33	chr22:20338594-20339210	HepG2	liver:	n/a	chr22:20338937-20338946
7	FOXA1	chr22:20338788-20339461	HepG2	liver:	n/a	n/a
8	EP300	chr22:20338550-20339231	GM12878	blood:	n/a	n/a
9	PAX5	chr22:20338859-20339198	GM12878	blood:	n/a	n/a
10	ZBTB33	chr22:20338546-20340222	K562	blood:	n/a	chr22:20338937-20338946
11	RXRA	chr22:20338645-20340180	HepG2	liver:	n/a	n/a
12	BATF	chr22:20338718-20339171	GM12878	blood:	n/a	chr22:20338830-20338841 chr22:20338831-20338841
13	SIX5	chr22:20338782-20339052	GM12878	blood:	n/a	n/a
14	IRF4	chr22:20338716-20339234	GM12878	blood:	n/a	n/a
15	GATA2	chr22:20338480-20340038	K562	blood:	n/a	chr22:20338831-20338840 chr22:20338828-20338837
16	PAX5	chr22:20338630-20339544	GM12878	blood:	n/a	n/a
17	RXRA	chr22:20338878-20339097	HepG2	liver:	n/a	n/a
18	GABPA	chr22:20338805-20339099	Hela-S3	cervix:	n/a	n/a
19	JUND	chr22:20338654-20339167	HepG2	liver:	n/a	chr22:20338829-20338839 chr22:20338829-20338839 chr22:20338828-20338840 chr22:20338830-20338838
20	ZBTB33	chr22:20338645-20339209	GM12878	blood:	n/a	chr22:20338937-20338946
21	HEY1	chr22:20338669-20339256	K562	blood:	n/a	n/a
22	SIN3AK20	chr22:20339023-20339136	HepG2	liver:	n/a	n/a
23	IRF4	chr22:20338958-20339485	GM12878	blood:	n/a	n/a
24	POU2F2	chr22:20338551-20339603	GM12878	blood:	n/a	chr22:20339511-20339524 chr22:20339511-20339524 chr22:20339511-20339524
25	USF1	chr22:20338884-20339156	HepG2	liver:	n/a	n/a
26	SP1	chr22:20338804-20339480	HepG2	liver:	n/a	n/a
27	ZBTB33	chr22:20338690-20339151	GM12878	blood:	n/a	chr22:20338937-20338946
28	TCF3	chr22:20338902-20339396	GM12878	blood:	n/a	n/a
29	PBX3	chr22:20338985-20339095	GM12878	blood:	n/a	n/a
30	SIX5	chr22:20338509-20340064	K562	blood:	n/a	n/a
31	ZBTB33	chr22:20338721-20339147	HepG2	liver:	n/a	chr22:20338937-20338946

Variant related genes	Relation type
ENSG00000230410	TF binding region

Extended variants
information (count: 56 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	esv1806951	chr22:20326812-20359406	Enhancers Weak transcription	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
37	esv1808971	chr22:20326812-20359406	Enhancers Weak transcription	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
38	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
39	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
40	esv10280	chr22:20326922-20368492	Enhancers Weak transcription	TF binding region CpG island lncRNA	5 gene(s)	inside rSNPs	diseases
41	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
42	nsv979636	chr22:20327526-20359181	Enhancers	TF binding region CpG island lncRNA	4 gene(s)	inside rSNPs	diseases
43	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
44	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
45	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
46	esv3516031	chr22:20331152-20339950	Inactive region	TF binding region lncRNA	3 gene(s)	inside rSNPs	diseases
47	esv3516032	chr22:20331152-20339950	Inactive region	TF binding region lncRNA	3 gene(s)	inside rSNPs	diseases
48	esv3456279	chr22:20333352-20339650	Inactive region	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
49	esv3456280	chr22:20333352-20339650	Inactive region	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
50	esv3373302	chr22:20336652-20341150	Inactive region	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

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Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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