Variant report

Variant	esv3438074
Chromosome Location	chr22:23743477-23746325
allele	n/a
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	BACH1	chr22:23744648-23745063	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr22:23744958-23745145	GM12878	blood:	n/a	chr22:23745054-23745070
3	BHLHE40	chr22:23745003-23745056	K562	blood:	n/a	n/a
4	BHLHE40	chr22:23744217-23744314	K562	blood:	n/a	n/a
5	CCNT2	chr22:23744248-23744361	K562	blood:	n/a	chr22:23744349-23744358
6	CCNT2	chr22:23744595-23745201	K562	blood:	n/a	n/a
7	CEBPB	chr22:23743400-23743695	IMR90	lung:	n/a	n/a
8	CHD2	chr22:23744988-23745147	H1-hESC	embryonic stem cell:	n/a	n/a
9	CREB1	chr22:23744835-23745161	A549	lung:	n/a	n/a
10	CTBP2	chr22:23744287-23745184	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr22:23744816-23745251	GM12878	blood:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
12	CTCF	chr22:23744980-23745130	AoAF	blood vessel:	n/a	chr22:23745058-23745071 chr22:23745064-23745077
13	CTCF	chr22:23744863-23745182	LNCaP	prostate:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
14	CTCF	chr22:23745000-23745150	WI-38	lung:	n/a	chr22:23745058-23745071 chr22:23745064-23745077
15	CTCF	chr22:23744912-23745148	GM20000	blood:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
16	CTCF	chr22:23744980-23745130	HEK293	kidney:	n/a	chr22:23745058-23745071 chr22:23745064-23745077
17	CTCF	chr22:23744874-23745209	H1-hESC	embryonic stem cell:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
18	CTCF	chr22:23745000-23745150	Caco-2	colon:	n/a	chr22:23745058-23745071 chr22:23745064-23745077
19	CTCF	chr22:23744914-23745145	HUVEC	blood vessel:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
20	CTCF	chr22:23744940-23745090	GM12872	blood:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
21	CTCF	chr22:23744873-23745410	HCT-116	colon:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
22	CTCF	chr22:23744715-23744782	Spleen_OC	spleen:	n/a	n/a
23	CTCF	chr22:23745036-23745062	Gliobla	brain:	n/a	n/a
24	CTCF	chr22:23744940-23745090	GM12869	blood:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
25	CTCF	chr22:23744920-23745070	HCM	heart:	n/a	chr22:23744976-23744994 chr22:23744979-23744992
26	CTCF	chr22:23744866-23745154	SK-N-SH_RA	brain:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
27	CTCF	chr22:23744960-23745110	HBMEC	blood vessel:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
28	CTCF	chr22:23744809-23745214	A549	lung:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
29	CTCF	chr22:23744939-23745169	GM13976	blood:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
30	CTCF	chr22:23744894-23745167	GM13977	blood:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
31	CTCF	chr22:23744660-23744810	HUVEC	blood vessel:	n/a	n/a
32	CTCF	chr22:23744890-23745152	MCF-7	breast:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
33	CTCF	chr22:23744860-23745173	MCF-7	breast:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
34	CTCF	chr22:23744877-23745209	T-47D	breast:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
35	CTCF	chr22:23744920-23745070	AG04450	lung:	n/a	chr22:23744976-23744994 chr22:23744979-23744992
36	CTCF	chr22:23744980-23745130	GM12864	blood:	n/a	chr22:23745058-23745071 chr22:23745064-23745077
37	CTCF	chr22:23744871-23745218	Pancreas_OC	pancreas:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
38	CTCF	chr22:23744980-23745130	HMEC	breast:	n/a	chr22:23745058-23745071 chr22:23745064-23745077
39	CTCF	chr22:23744980-23745130	HPF	lung:	n/a	chr22:23745058-23745071 chr22:23745064-23745077
40	CTCF	chr22:23744930-23745151	Lung_OC	lung:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
41	CTCF	chr22:23745160-23745310	HVMF	connective:	n/a	n/a
42	CTCF	chr22:23744848-23745186	NHEK	skin:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
43	CTCF	chr22:23744960-23745110	HCPEpiC	choroid plexus:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
44	CTCF	chr22:23744887-23745294	MCF-7	breast:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
45	CTCF	chr22:23744940-23745090	HL-60	blood:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
46	CTCF	chr22:23745020-23745170	MCF-7	breast:	n/a	chr22:23745058-23745071 chr22:23745064-23745077
47	CTCF	chr22:23744640-23744790	HCM	heart:	n/a	n/a
48	CTCF	chr22:23744920-23745070	GM12869	blood:	n/a	chr22:23744976-23744994 chr22:23744979-23744992
49	CTCF	chr22:23744980-23745130	BJ	skin:	n/a	chr22:23745058-23745071 chr22:23745064-23745077
50	CTCF	chr22:23744802-23745192	ECC-1	luminal epithelium:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:23744717-23744767	ProgFib	skin:	n/a
2	chr22:23744725-23744775	HCM	heart:	n/a
3	chr22:23744094-23744144	HCPEpiC	choroid plexus:	n/a
4	chr22:23744094-23744144	NT2-D1	testis:	n/a
5	chr22:23744717-23744767	T-47D	breast:	n/a
6	chr22:23745389-23745439	PFSK-1	brain:	n/a
7	chr22:23744725-23744775	HRCEpiC	kidney:	n/a
8	chr22:23745389-23745439	BE2_C	brain:	n/a
9	chr22:23745131-23745181	HCM	heart:	n/a
10	chr22:23745076-23745126	SKMC	muscle:	n/a
11	chr22:23744094-23744144	HCT-116	colon:	n/a
12	chr22:23745389-23745439	HCF	heart:	n/a
13	chr22:23745076-23745126	NHDF-neo	bronchial:	n/a
14	chr22:23744717-23744767	NHDF-neo	bronchial:	n/a
15	chr22:23744717-23744767	LNCaP	prostate:	n/a
16	chr22:23745389-23745439	MCF-7	breast:	n/a
17	chr22:23744928-23744978	HPAEpiC	pulmonary alveolar:	n/a
18	chr22:23744725-23744775	HPAEpiC	pulmonary alveolar:	n/a
19	chr22:23745076-23745126	PrEC	prostate:	n/a
20	chr22:23744717-23744767	PFSK-1	brain:	n/a
21	chr22:23745131-23745181	SKMC	muscle:	n/a
22	chr22:23744928-23744978	K562	blood:	n/a
23	chr22:23745131-23745181	AG04450	lung:	fetal
24	chr22:23744725-23744775	AG09309	skin:	n/a
25	chr22:23744094-23744144	HCM	heart:	n/a
26	chr22:23744717-23744767	BJ	skin:	n/a
27	chr22:23745076-23745126	PFSK-1	brain:	n/a
28	chr22:23745389-23745439	Jurkat	blood:	n/a
29	chr22:23745131-23745181	BJ	skin:	n/a
30	chr22:23744094-23744144	PFSK-1	brain:	n/a
31	chr22:23745389-23745439	Caco-2	colon:	n/a
32	chr22:23744725-23744775	ECC-1	luminal epithelium:	n/a
33	chr22:23744717-23744767	RPTEC	kidney:	n/a
34	chr22:23745076-23745126	RPTEC	kidney:	n/a
35	chr22:23744717-23744767	GM12892	blood:	n/a
36	chr22:23744717-23744767	MCF10A-Er-Src	breast:	n/a
37	chr22:23744094-23744144	HL-60	blood:	n/a
38	chr22:23744725-23744775	GM12892	blood:	n/a
39	chr22:23744725-23744775	U87	brain:	n/a
40	chr22:23744928-23744978	HNPCEpiC	eye:	n/a
41	chr22:23745131-23745181	K562	blood:	n/a
42	chr22:23745131-23745181	A549	lung:	n/a
43	chr22:23745131-23745181	NH-A	brain:	n/a
44	chr22:23745131-23745181	HRPEpiC	eye:	n/a
45	chr22:23744725-23744775	Jurkat	blood:	n/a
46	chr22:23745131-23745181	HRCEpiC	kidney:	n/a
47	chr22:23744094-23744144	HRCEpiC	kidney:	n/a
48	chr22:23744094-23744144	SAEC	small airway:	n/a
49	chr22:23744928-23744978	BE2_C	brain:	n/a
50	chr22:23744928-23744978	HMEC	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:20255555..20256232-chr22:23744733..23745268,3	MCF-7	breast:
2	chr22:20255134..20257109-chr22:23743239..23744767,3	MCF-7	breast:
3	chr22:20255195..20256295-chr22:23744242..23744859,6	MCF-7	breast:
4	chr22:20253259..20257319-chr22:23743216..23746275,4	K562	blood:
5	chr22:20255317..20256206-chr22:23744235..23745365,12	HCT-116	colon:
6	chr22:23745391..23747934-chr22:23759747..23762327,2	MCF-7	breast:
7	chr22:20255606..20257319-chr22:23743223..23746226,3	K562	blood:
8	chr22:20255641..20256294-chr22:23744242..23744784,3	Hela-S3	cervix:
9	chr22:20255172..20256299-chr22:23744215..23745345,10	MCF-7	breast:
10	chr22:20255429..20256076-chr22:23744719..23745345,6	K562	blood:
11	chr22:23737797..23740711-chr22:23742133..23744059,2	MCF-7	breast:

Variant related genes	Relation type
ZDHHC8P1	TF binding region
ZDHHC8P1	CpG island
ENSG00000040608	chromatin interactions

Extended variants
information (count: 112 )
Associated
traits (count: 211 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5759770	chr22:23743499-23743500	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs190934225	chr22:23743505-23743506	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs11703727	chr22:23743506-23743507	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs374877580	chr22:23743511-23743512	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs115130675	chr22:23743514-23743515	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs535801057	chr22:23743606-23743607	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs182611625	chr22:23743610-23743611	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs572336083	chr22:23743735-23743736	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs534894012	chr22:23743770-23743771	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs557815690	chr22:23743836-23743837	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs142464854	chr22:23743857-23743858	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs367545790	chr22:23743905-23743906	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs543262045	chr22:23743993-23743994	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs563351488	chr22:23743996-23743997	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs71320706	chr22:23744019-23744020	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs8140694	chr22:23744033-23744034	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs542183789	chr22:23744034-23744035	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs7289401	chr22:23744049-23744050	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs187265915	chr22:23744082-23744083	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs144235690	chr22:23744127-23744128	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs386820064	chr22:23744128-23744129	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs58741550	chr22:23744130-23744131	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs61242867	chr22:23744132-23744133	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs553505855	chr22:23744154-23744155	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs11090244	chr22:23744161-23744162	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs570107603	chr22:23744194-23744195	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs535968290	chr22:23744210-23744211	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs192039619	chr22:23744250-23744251	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs146544162	chr22:23744283-23744284	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs35970571	chr22:23744367-23744368	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
31	rs140095564	chr22:23744387-23744388	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs571456477	chr22:23744468-23744469	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs537225083	chr22:23744476-23744477	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs2070441	chr22:23744477-23744478	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs567019747	chr22:23744478-23744479	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs542291374	chr22:23744479-23744480	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs552694070	chr22:23744481-23744482	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs143672891	chr22:23744499-23744500	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs145013374	chr22:23744525-23744526	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs564753275	chr22:23744531-23744532	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs533477366	chr22:23744563-23744564	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs543961496	chr22:23744564-23744565	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs75231840	chr22:23744633-23744634	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs529559820	chr22:23744684-23744685	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs549490313	chr22:23744690-23744691	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs8140608	chr22:23744699-23744700	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs528440402	chr22:23744718-23744719	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs116750520	chr22:23744769-23744770	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs571486472	chr22:23744784-23744785	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs143191322	chr22:23744812-23744813	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:211)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Emanuel syndrome	21549014	CNVD
Digeorge syndrome	22283845	CNVD
Schizophrenia	17504246	CNVD
Digeorge syndrome	18033723	CNVD
22q11 deletion syndrome	17034021	CNVD
22q11 deletion syndrome	22511897	CNVD
22q11 deletion syndrome	16829213	CNVD
Autism	22067053	CNVD
Autism	19218893	CNVD
Biliary cancer	22067053	CNVD
Congenital heart defect	21390462	CNVD
Digeorge syndrome	16617304	CNVD
Emanuel syndrome	18184694	CNVD
Non-syndromic sensorineural hearing loss	18184694	CNVD
Obsessive-compulsive disorder	22067053	CNVD
Psychosis	22067053	CNVD
Schizophrenia	19415332	CNVD
Schizophrenia	20587603	CNVD
Shprintzen syndrome	19443537	CNVD
absent pulmonary valve syndrome	16795129	CNVD
language delay	22067053	CNVD
periventricular nodular heterotopia	20648244	CNVD
renal disease	17924346	CNVD
Schizophrenia	20433910	CNVD
22q11 deletion syndrome	17028864	CNVD
Schizophrenia	16969581	CNVD
Non-syndromic sensorineural hearing loss	17135275	CNVD
velo-cardio-facial syndrome	17135275	CNVD
Digeorge syndrome	18787571	CNVD
Autism	18925931	CNVD
Non-small cell lung cancer	21829676	CNVD
22q11.2 microdeletion syndrome	21547621	CNVD
Congenital heart defect	21308838	CNVD
Digeorge syndrome	16512914	CNVD
Digeorge syndrome	20954168	CNVD
Nuchal translucency	21837766	CNVD
Right aortic arch in the fetus	17066500	CNVD
Shprintzen syndrome	17117043	CNVD
Tetralogy of fallot	17405110	CNVD
Velocardiofacial syndrome	20140301	CNVD
Velocardiofacial syndrome	16512914	CNVD
bone mass and metabolism	20516202	CNVD
choanal atresia	18209138	CNVD
extracardiac malformations	17086578	CNVD
fetal heart defects	21308838	CNVD
parathyroid gland dysfunction	16793949	CNVD
prenatal diagnosis	20453657	CNVD
velopharyngeal insufficiency	19620585	CNVD
Prader-willi syndrome	20942916	CNVD
22q11 deletion syndrome	17653112	CNVD
Chronic myelomonocytic leukemia	16760666	CNVD
Non-syndromic sensorineural hearing loss	16829213	CNVD
Non-syndromic sensorineural hearing loss	16760666	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	21858162	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cat eye syndrome	21549014	CNVD
Digeorge syndrome	21549014	CNVD
22q11.2 microdeletion syndrome	22051516	CNVD
22q11.2 microdeletion syndrome	18483005	CNVD
22q11.2 microdeletion syndrome	19565140	CNVD
22q11.2 microdeletion syndrome	20396437	CNVD
22q11.2 microdeletion syndrome	21390462	CNVD
22q11.2 microdeletion syndrome	21573985	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Congenital heart defect	21257016	CNVD
Developmental delay	18414209	CNVD
DiGeorge-Velo cardiofacial	19284877	CNVD
Epilepsy	20970697	CNVD
Heart disease	20551144	CNVD
Hughes'' syndrome	16595601	CNVD
Mental retardation	18414209	CNVD
Okamoto syndrome	19046188	CNVD
Primary immunodeficiency	22566803	CNVD
Schizophrenia	20877625	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Tetralogy of Fallot	22912587	CNVD
Velocardiofacial syndrome	17556857	CNVD
Velocardiofacial syndrome	20206275	CNVD
Velocardiofacial syndrome	20970697	CNVD
delayed speech development	21274400	CNVD
velo-cardio-facial syndrome	16511839	CNVD
velo-cardio-facial syndrome	21763005	CNVD
22q11.2 microdeletion syndrome	18799940	CNVD
Digeorge syndrome	20877625	CNVD
22q11.2 microdeletion syndrome	18923514	CNVD
Congenital heart defect	22185286	CNVD
DiGeorge-Velo cardiofacial	16773131	CNVD
Digeorge syndrome	20186050	CNVD
velo-cardio-facial conotruncal-face syndrome	20186050	CNVD
22q11.2 microdeletion syndrome	22116936	CNVD
Disorders of sex development	22290220	CNVD
22q11.2 duplication syndrome	18923514	CNVD
Autism	22095694	CNVD
Mental retardation	19951919	CNVD
Honadal dysgenesis	21048976	CNVD
Mental retardation	16773131	CNVD
22q11.2 microdeletion syndrome	22395003	CNVD
22q11.2 microdeletion syndrome	18691436	CNVD
22q11.2 microdeletion syndrome	18053182	CNVD
22q11.2 microdeletion syndrome	18324686	CNVD
22q11.2 microdeletion syndrome	20074913	CNVD
Congenital heart defect	20802965	CNVD
Congenital heart defect	21134246	CNVD
DiGeorge syndrome	19040613	CNVD
DiGeorge-Velo cardiofacial	18179902	CNVD
Digeorge syndrome	18172682	CNVD
Digeorge syndrome	22470819	CNVD
Digeorge syndrome	21364285	CNVD
Neuroendocrine carcinoma	22470819	CNVD
Non-syndromic sensorineural hearing loss	20069674	CNVD
Smith-Magenis syndrome	18301319	CNVD
Tetralogy of fallot	19144126	CNVD
Velo-cardio-facial syndrome	21364285	CNVD
Velocardiofacial syndrome	18788013	CNVD
cardiac malformation	20573211	CNVD
cardiac malformation	18172682	CNVD
velo-cardio-facial syndrome	18636631	CNVD
Schizophrenia	21822266	CNVD
synaptic plasticity	21368174	CNVD
Schizophrenia	18043741	CNVD
sporadic birth defects	19047251	CNVD
Autism	19046189	CNVD
DiGeorge-Velo cardiofacial	19047251	CNVD
Hypernasal speech	21968682	CNVD
Mental retardation	17339581	CNVD
diverse phenotype	16760730	CNVD
Mental retardation	20152051	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	21251322	CNVD
DiGeorge-Velo cardiofacial	17597781	CNVD
Digeorge syndrome	17576883	CNVD
Schizophrenia	18806272	CNVD
Schizophrenia	18990708	CNVD
Velocardiofacial syndrome	17576883	CNVD
Schizophrenia	20075378	CNVD
Neurodevelopmental disorder	17015230	CNVD
Neuropsychiatric disorder	20069037	CNVD
Williams-beuren syndrome	18553513	CNVD
Emphysema	19352772	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Asthma	21956041	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	21128281	CNVD
Systemic lupus erythematosus	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
22q11.23 microdeletion syndrome	19193630	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Chronic myeloid leukemia	21384125	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	17989066	CNVD
Cancer	20164919	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Li-fraumeni syndrome	18685109	CNVD
Breast cancer	20409316	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Cancer	19424424	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:321 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23726800-23744200	Weak transcription	Brain Anterior Caudate	brain
2	chr22:23728600-23744200	Weak transcription	Brain Angular Gyrus	brain
3	chr22:23728600-23744200	Weak transcription	Brain Hippocampus Middle	brain
4	chr22:23737800-23744200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr22:23738600-23744400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr22:23738800-23744200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr22:23738800-23744400	Weak transcription	Fetal Thymus	thymus
8	chr22:23738800-23746400	Enhancers	Fetal Brain Male	brain
9	chr22:23739400-23744200	Weak transcription	Pancreas	Pancrea
10	chr22:23740400-23743800	Weak transcription	Ovary	ovary
11	chr22:23740400-23744000	Enhancers	Placenta	Placenta
12	chr22:23740800-23744200	Weak transcription	Fetal Stomach	stomach
13	chr22:23741400-23743600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr22:23741400-23743600	Weak transcription	Fetal Intestine Small	intestine
15	chr22:23741400-23744200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr22:23741600-23744200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr22:23741600-23745000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr22:23741800-23743600	Enhancers	HMEC	breast
19	chr22:23742400-23743800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr22:23742400-23744000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr22:23742400-23744200	Enhancers	Placenta Amnion	Placenta Amnion
22	chr22:23742400-23744400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr22:23742600-23743600	Enhancers	Brain Germinal Matrix	brain
24	chr22:23742600-23744400	Weak transcription	Esophagus	oesophagus
25	chr22:23742800-23743600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr22:23742800-23744000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr22:23742800-23744000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr22:23742800-23744200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr22:23742800-23744400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr22:23742800-23744400	Enhancers	NH-A	brain
31	chr22:23743000-23744000	Enhancers	Osteobl	bone
32	chr22:23743000-23744600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr22:23743200-23743600	Enhancers	Fetal Intestine Large	intestine
34	chr22:23743200-23744000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr22:23743400-23743800	Flanking Active TSS	Fetal Brain Female	brain
36	chr22:23743400-23744000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr22:23743400-23744000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr22:23743400-23744200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr22:23743400-23744200	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr22:23743400-23744400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr22:23743600-23743800	Flanking Active TSS	Fetal Intestine Large	intestine
42	chr22:23743600-23744000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr22:23743600-23744000	Enhancers	A549	lung
44	chr22:23743600-23744200	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr22:23743600-23744200	Enhancers	Brain Cingulate Gyrus	brain
46	chr22:23743600-23744200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
47	chr22:23743600-23744200	Enhancers	Fetal Intestine Small	intestine
48	chr22:23743600-23744600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr22:23743600-23744600	Flanking Active TSS	Brain Germinal Matrix	brain
50	chr22:23743600-23744800	Flanking Active TSS	HMEC	breast

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