Variant report

Variant	rs180746725
Chromosome Location	chr22:23668776-23668777
allele	C/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	CTCF	chr22:23668720-23668870	HA-sp	spinal cord:	n/a	n/a
2	HEY1	chr22:23668459-23669258	K562	blood:	n/a	n/a
3	CTCF	chr22:23668504-23669091	A549	lung:	n/a	chr22:23668703-23668721
4	CTCF	chr22:23668630-23668802	Medullo	brain:	n/a	chr22:23668703-23668721
5	IRF4	chr22:23668391-23669112	GM12878	blood:	n/a	n/a
6	NR3C1	chr22:23668757-23669138	A549	lung:	n/a	n/a
7	CTCF	chr22:23668484-23668879	K562	blood:	n/a	chr22:23668703-23668721
8	SIX5	chr22:23668468-23669201	K562	blood:	n/a	n/a
9	CTCF	chr22:23668740-23668890	RPTEC	kidney:	n/a	n/a
10	SPI1	chr22:23668772-23669407	GM12891	blood:	n/a	chr22:23669304-23669317 chr22:23669305-23669318 chr22:23669053-23669060
11	CTCF	chr22:23668464-23669011	A549	lung:	n/a	chr22:23668703-23668721
12	CTCF	chr22:23668597-23668795	LNCaP	prostate:	n/a	chr22:23668703-23668721
13	IRF4	chr22:23668402-23668826	GM12878	blood:	n/a	n/a
14	CTCF	chr22:23668740-23668890	GM12864	blood:	n/a	n/a
15	CTCF	chr22:23668720-23668870	BJ	skin:	n/a	n/a
16	POU2F2	chr22:23668394-23669235	GM12878	blood:	n/a	chr22:23668713-23668727 chr22:23668558-23668570
17	NR3C1	chr22:23668521-23669205	A549	lung:	n/a	n/a
18	RXRA	chr22:23668707-23669149	HepG2	liver:	n/a	n/a
19	CTCF	chr22:23668720-23668870	AG09319	gingival:	n/a	n/a
20	POLR2A	chr22:23668761-23669176	GM12878	blood:	n/a	n/a
21	GATA2	chr22:23668208-23669399	K562	blood:	n/a	chr22:23669053-23669063 chr22:23669309-23669320
22	CTCF	chr22:23668700-23668850	AG04450	lung:	n/a	chr22:23668703-23668721
23	CTCF	chr22:23668760-23668910	NHDF-neo	bronchial:	n/a	n/a
24	ZBTB33	chr22:23668280-23669248	K562	blood:	n/a	n/a
25	FOSL2	chr22:23668450-23668993	HepG2	liver:	n/a	chr22:23668765-23668774 chr22:23668773-23668782
26	CTCF	chr22:23668484-23668913	A549	lung:	n/a	chr22:23668703-23668721
27	FOSL2	chr22:23668436-23669158	HepG2	liver:	n/a	chr22:23668765-23668774 chr22:23668773-23668782
28	SIX5	chr22:23668435-23669399	K562	blood:	n/a	n/a
29	CTCF	chr22:23668485-23668945	K562	blood:	n/a	chr22:23668703-23668721
30	NR3C1	chr22:23668660-23669194	A549	lung:	n/a	n/a
31	ZBTB33	chr22:23668459-23668818	GM12878	blood:	n/a	n/a
32	NR3C1	chr22:23668695-23669246	A549	lung:	n/a	n/a
33	CTCF	chr22:23668740-23668890	MCF-7	breast:	n/a	n/a
34	CTCF	chr22:23668461-23669118	A549	lung:	n/a	chr22:23668703-23668721
35	BATF	chr22:23668521-23668817	GM12878	blood:	n/a	n/a
36	CTCF	chr22:23668681-23668786	GM10248	blood:	n/a	chr22:23668703-23668721
37	CTCF	chr22:23668720-23668870	HMF	breast:	n/a	n/a
38	CTCF	chr22:23668659-23668784	LNCaP	prostate:	n/a	chr22:23668703-23668721
39	CTCF	chr22:23668720-23668870	HCPEpiC	choroid plexus:	n/a	n/a
40	SP1	chr22:23668519-23668825	GM12878	blood:	n/a	n/a
41	TCF3	chr22:23668757-23669137	GM12878	blood:	n/a	n/a
42	EP300	chr22:23668478-23668906	GM12878	blood:	n/a	n/a
43	CTCF	chr22:23668740-23668890	HAc	cerebellar:	n/a	n/a
44	NR3C1	chr22:23668609-23669278	A549	lung:	n/a	n/a
45	USF1	chr22:23668294-23669286	A549	lung:	n/a	n/a

Variant related genes	Relation type
ENSG00000214526	TF binding region
ENSG00000236611	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056324	chr22:23055148-23750989	Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv1057659	chr22:23400739-24138788	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv9876	chr22:23563331-23923059	Strong transcription Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS 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 target site	29 gene(s)	inside rSNPs	diseases
4	nsv482557	chr22:23584948-23741799	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv531550	chr22:23589667-24012550	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	esv2762117	chr22:23592136-23996869	Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv1063476	chr22:23596683-23989388	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
8	nsv544617	chr22:23596683-23989388	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
9	nsv1059951	chr22:23597270-23973060	Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
10	nsv1060339	chr22:23603429-23984195	Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
11	nsv544618	chr22:23603429-23984195	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
12	nsv1059384	chr22:23614429-23984195	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
13	nsv544619	chr22:23614429-23984195	Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
14	nsv588601	chr22:23632665-23979219	Bivalent Enhancer Active TSS Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
15	esv17028	chr22:23649375-23672982	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
16	nsv914578	chr22:23650987-23708020	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
17	nsv914579	chr22:23650987-23995056	Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
18	nsv979654	chr22:23652511-23693612	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
19	esv1814193	chr22:23668217-23671204	Weak transcription	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases
20	esv20013	chr22:23668424-23672856	Weak transcription	TF binding region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23657800-23670800	Weak transcription	Fetal Brain Female	brain

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