Variant report

Variant	rs540177741
Chromosome Location	chr22:23652935-23652936
allele	A/C
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	NR2F2	chr22:23652873-23653794	K562	blood:	n/a	chr22:23653636-23653651
2	JUND	chr22:23652924-23653234	HepG2	liver:	n/a	chr22:23653009-23653018
3	POLR2A	chr22:23652729-23653366	PFSK-1	brain:	n/a	n/a
4	HEY1	chr22:23652920-23653101	HepG2	liver:	n/a	n/a
5	SIN3AK20	chr22:23652899-23653323	HepG2	liver:	n/a	n/a
6	JUND	chr22:23652916-23653741	HepG2	liver:	n/a	chr22:23653009-23653018
7	POLR2A	chr22:23652800-23653050	HUVEC	blood vessel:	n/a	n/a
8	SPI1	chr22:23652805-23653249	GM12878	blood:	n/a	chr22:23652995-23653002
9	RXRA	chr22:23652722-23653837	HepG2	liver:	n/a	chr22:23653473-23653487 chr22:23653639-23653648
10	IRF4	chr22:23652842-23653593	GM12878	blood:	n/a	n/a
11	SPI1	chr22:23652871-23653347	GM12891	blood:	n/a	chr22:23652995-23653002
12	IRF4	chr22:23652842-23653513	GM12878	blood:	n/a	n/a
13	TCF12	chr22:23652894-23653351	HepG2	liver:	n/a	n/a
14	EBF1	chr22:23652865-23653174	GM12878	blood:	n/a	n/a
15	HEY1	chr22:23652854-23653969	K562	blood:	n/a	n/a
16	USF1	chr22:23652878-23653573	HepG2	liver:	n/a	n/a
17	SIX5	chr22:23652867-23653998	K562	blood:	n/a	n/a
18	FOXP2	chr22:23652613-23653301	PFSK-1	brain:	n/a	n/a
19	SPI1	chr22:23652920-23653100	GM12878	blood:	n/a	chr22:23652995-23653002
20	SPI1	chr22:23652855-23653585	K562	blood:	n/a	chr22:23652995-23653002
21	MYC	chr22:23652701-23653021	HUVEC	blood vessel:	n/a	n/a
22	TCF12	chr22:23652885-23653260	GM12878	blood:	n/a	n/a
23	POLR2A	chr22:23652924-23653466	HepG2	liver:	n/a	n/a
24	FOXA1	chr22:23652819-23653662	HepG2	liver:	n/a	n/a
25	PAX5	chr22:23652866-23653364	GM12878	blood:	n/a	chr22:23652993-23653002
26	NR3C1	chr22:23652624-23653003	A549	lung:	n/a	n/a
27	FOSL2	chr22:23652550-23653563	HepG2	liver:	n/a	chr22:23653009-23653018
28	BCL11A	chr22:23652930-23653464	GM12878	blood:	n/a	n/a
29	SP1	chr22:23652879-23653297	GM12878	blood:	n/a	chr22:23653120-23653129 chr22:23653118-23653130 chr22:23653114-23653124 chr22:23653119-23653129 chr22:23653118-23653130 chr22:23652923-23652930 chr22:23653114-23653123 chr22:23653119-23653129 chr22:23653119-23653133 chr22:23653119-23653128 chr22:23653114-23653124
30	TCF3	chr22:23652897-23653350	GM12878	blood:	n/a	n/a
31	GATA2	chr22:23652804-23653074	HUVEC	blood vessel:	n/a	n/a
32	BHLHE40	chr22:23652825-23653281	HepG2	liver:	n/a	n/a
33	PAX5	chr22:23652849-23654110	GM12878	blood:	n/a	chr22:23652993-23653002
34	FOSL2	chr22:23652829-23653848	HepG2	liver:	n/a	chr22:23653009-23653018
35	USF1	chr22:23652846-23653183	A549	lung:	n/a	n/a
36	SPI1	chr22:23652846-23653554	K562	blood:	n/a	chr22:23652995-23653002
37	SIX5	chr22:23652829-23654018	K562	blood:	n/a	n/a
38	EP300	chr22:23652904-23653564	GM12878	blood:	n/a	n/a
39	USF1	chr22:23652935-23653167	A549	lung:	n/a	n/a
40	ZBTB33	chr22:23652898-23653839	K562	blood:	n/a	n/a
41	POLR2A	chr22:23652828-23653402	H1-hESC	embryonic stem cell:	n/a	n/a
42	CBX3	chr22:23652887-23653508	K562	blood:	n/a	n/a
43	USF1	chr22:23652852-23653677	GM12878	blood:	n/a	n/a
44	USF1	chr22:23652847-23653797	HepG2	liver:	n/a	n/a
45	BATF	chr22:23652901-23653216	GM12878	blood:	n/a	chr22:23653078-23653089
46	ZBTB33	chr22:23652904-23653879	K562	blood:	n/a	n/a
47	RXRA	chr22:23652826-23653774	HepG2	liver:	n/a	chr22:23653473-23653487 chr22:23653639-23653648
48	GATA2	chr22:23652893-23653574	K562	blood:	n/a	chr22:23653209-23653219
49	HEY1	chr22:23652871-23654006	K562	blood:	n/a	n/a
50	PAX5	chr22:23652881-23653561	GM12878	blood:	n/a	chr22:23652993-23653002

Variant related genes	Relation type
BCR	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv588512	chr22:22998337-23667731	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	nsv993496	chr22:23002709-23654222	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
3	nsv1067324	chr22:23007367-23654223	Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Strong transcription 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	97 gene(s)	inside rSNPs	diseases
4	nsv916933	chr22:23012069-23654237	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
5	nsv531801	chr22:23028586-23657804	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	92 gene(s)	inside rSNPs	diseases
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	esv14387	chr22:23652469-23662024	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
24	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

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23632800-23657600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr22:23635200-23657600	Weak transcription	A549	lung
3	chr22:23635600-23655200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr22:23635800-23657800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr22:23636000-23657400	Weak transcription	Small Intestine	intestine
6	chr22:23636600-23657600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr22:23636600-23657800	Weak transcription	Hela-S3	cervix
8	chr22:23637800-23657400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr22:23639800-23656200	Weak transcription	Fetal Kidney	kidney
10	chr22:23640200-23656200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:23640200-23660200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr22:23642800-23656200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr22:23643000-23658200	Weak transcription	GM12878-XiMat	blood
14	chr22:23644200-23653800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr22:23644800-23654000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr22:23645000-23654000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr22:23645000-23659200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr22:23645200-23654000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr22:23645200-23654400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr22:23645200-23655800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr22:23645200-23656200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr22:23645600-23653800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr22:23645600-23655200	Weak transcription	Duodenum Mucosa	Duodenum
24	chr22:23645800-23654000	Weak transcription	Fetal Intestine Large	intestine
25	chr22:23645800-23654200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr22:23645800-23654200	Weak transcription	Pancreas	Pancrea
27	chr22:23645800-23656200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr22:23646000-23655800	Weak transcription	Primary B cells from peripheral blood	blood
29	chr22:23646000-23658400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr22:23646000-23664800	Weak transcription	HepG2	liver
31	chr22:23647000-23653800	Weak transcription	Liver	Liver
32	chr22:23647000-23653800	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr22:23647000-23653800	Weak transcription	Dnd41	blood
34	chr22:23647000-23654000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr22:23647000-23654000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr22:23647000-23655400	Weak transcription	Fetal Thymus	thymus
37	chr22:23647200-23655800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr22:23647600-23654000	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr22:23647600-23656400	Weak transcription	Primary B cells from cord blood	blood
40	chr22:23647800-23653800	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr22:23647800-23656200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr22:23648000-23659200	Weak transcription	NHEK	skin
43	chr22:23648200-23653600	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr22:23648200-23654000	Weak transcription	Fetal Lung	lung
45	chr22:23648200-23654000	Weak transcription	HSMMtube	muscle
46	chr22:23648600-23653800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr22:23648600-23653800	Weak transcription	Aorta	Aorta
48	chr22:23648600-23653800	Weak transcription	Esophagus	oesophagus
49	chr22:23648600-23655800	Weak transcription	Colonic Mucosa	Colon
50	chr22:23648600-23656000	Weak transcription	Colon Smooth Muscle	Colon

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