Variant report

Variant	rs9624154
Chromosome Location	chr22:23773610-23773611
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF2	chr22:23773563-23773620	GM12878	blood:	n/a	n/a
2	CBX3	chr22:23773490-23773804	K562	blood:	n/a	n/a
3	MAX	chr22:23773417-23773971	ECC-1	luminal epithelium:	n/a	n/a
4	MYC	chr22:23773590-23773624	MCF-7	breast:	n/a	n/a
5	E2F6	chr22:23773501-23773825	K562	blood:	n/a	n/a
6	MAX	chr22:23773558-23773747	K562	blood:	n/a	n/a
7	MAFF	chr22:23773179-23773735	HepG2	liver:	n/a	n/a
8	MAX	chr22:23773394-23773878	K562	blood:	n/a	n/a
9	FOXP2	chr22:23773459-23774017	SK-N-MC	brain:	n/a	n/a
10	POLR2A	chr22:23773323-23774200	SK-N-MC	brain:	n/a	n/a
11	NFIC	chr22:23773416-23774072	ECC-1	luminal epithelium:	n/a	n/a
12	TCF12	chr22:23773395-23774083	ECC-1	luminal epithelium:	n/a	n/a
13	EP300	chr22:23773344-23774154	ECC-1	luminal epithelium:	n/a	n/a
14	TCF12	chr22:23773361-23774094	ECC-1	luminal epithelium:	n/a	n/a
15	MAX	chr22:23773542-23773839	NB4	blood:	n/a	n/a
16	BHLHE40	chr22:23773469-23773794	K562	blood:	n/a	n/a
17	POLR2A	chr22:23773538-23773861	K562	blood:	n/a	n/a
18	RCOR1	chr22:23773549-23773996	HepG2	liver:	n/a	n/a
19	POLR2A	chr22:23773564-23773628	MCF-7	breast:	n/a	n/a
20	NFIC	chr22:23773394-23774062	ECC-1	luminal epithelium:	n/a	n/a
21	ESR1	chr22:23773340-23773907	ECC-1	luminal epithelium:	n/a	chr22:23773599-23773614
22	ESR1	chr22:23773298-23773869	ECC-1	luminal epithelium:	n/a	chr22:23773599-23773614
23	POLR2A	chr22:23773549-23773720	MCF-7	breast:	n/a	n/a
24	ESR1	chr22:23773352-23773778	ECC-1	luminal epithelium:	n/a	chr22:23773599-23773614
25	ESR1	chr22:23773354-23773702	T-47D	breast:	n/a	chr22:23773599-23773614
26	MAX	chr22:23773391-23773975	ECC-1	luminal epithelium:	n/a	n/a
27	MAFK	chr22:23773557-23773864	HepG2	liver:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:23771574..23774271-chr7:1915104..1916676,2	K562	blood:
2	chr22:23771574..23774271-chr7:1915099..1916676,3	K562	blood:
3	chr22:23770302..23775681-chr7:1914349..1918723,8	MCF-7	breast:
4	chr22:23772556..23774777-chr7:1920577..1922999,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000234928	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs56806351	0.83[EUR][1000 genomes]
rs5996542	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6003709	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:29 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	nsv914581	chr22:23720420-23995056	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
15	nsv914584	chr22:23729698-23774625	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv469702	chr22:23743640-23890756	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
17	nsv482382	chr22:23743640-23890756	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
18	nsv933040	chr22:23747565-23922420	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
19	nsv933753	chr22:23747905-23933431	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
20	nsv834154	chr22:23748703-23902492	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
21	nsv1062411	chr22:23750101-24264796	Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
22	nsv870195	chr22:23763905-23853815	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
23	esv3400124	chr22:23769652-23773950	Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
24	esv3351137	chr22:23770552-23775350	Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
25	esv3384841	chr22:23770652-23774950	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
26	esv3347154	chr22:23770652-23775250	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
27	esv3397631	chr22:23771152-23775350	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
28	esv21276	chr22:23771503-23774165	Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
29	nsv821024	chr22:23771503-23774165	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23772800-23775200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr22:23773000-23774000	Enhancers	Gastric	stomach
3	chr22:23773000-23774000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
4	chr22:23773000-23774400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr22:23773000-23774400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
6	chr22:23773000-23775800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr22:23773000-23775800	Enhancers	Fetal Thymus	thymus
8	chr22:23773000-23776200	Enhancers	K562	blood
9	chr22:23773200-23773800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr22:23773200-23774000	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr22:23773200-23774200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
12	chr22:23773200-23775400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr22:23773200-23775600	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr22:23773400-23773800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr22:23773400-23773800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr22:23773400-23773800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
17	chr22:23773400-23773800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
18	chr22:23773400-23774000	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr22:23773400-23774000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr22:23773400-23774200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr22:23773400-23774200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr22:23773400-23774200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr22:23773400-23774200	Strong transcription	Primary T cells from cord blood	blood
24	chr22:23773400-23774200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
25	chr22:23773400-23774200	Flanking Active TSS	HepG2	liver
26	chr22:23773400-23774400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr22:23773400-23775600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr22:23773600-23773800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr22:23773600-23773800	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr22:23773600-23773800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr22:23773600-23773800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
32	chr22:23773600-23773800	ZNF genes & repeats	Brain Cingulate Gyrus	brain
33	chr22:23773600-23773800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
34	chr22:23773600-23773800	Enhancers	A549	lung
35	chr22:23773600-23774000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr22:23773600-23774000	Enhancers	H9 Cell Line	embryonic stem cell
37	chr22:23773600-23774000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr22:23773600-23774000	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr22:23773600-23774000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
40	chr22:23773600-23774000	Bivalent Enhancer	Left Ventricle	heart
41	chr22:23773600-23774000	ZNF genes & repeats	Pancreas	Pancrea
42	chr22:23773600-23774000	Transcr. at gene 5' and 3'	Spleen	Spleen
43	chr22:23773600-23774200	Enhancers	Brain Angular Gyrus	brain
44	chr22:23773600-23774400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links