Variant report

Variant	nsv829099
Chromosome Location	chr22:23726903-23747505
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	BACH1	chr22:23746888-23747212	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr22:23744958-23745145	GM12878	blood:	n/a	chr22:23745054-23745070
4	BHLHE40	chr22:23728117-23728404	GM12878	blood:	n/a	n/a
5	BHLHE40	chr22:23745003-23745056	K562	blood:	n/a	n/a
6	BHLHE40	chr22:23744217-23744314	K562	blood:	n/a	n/a
7	BRCA1	chr22:23728177-23728379	H1-hESC	embryonic stem cell:	n/a	n/a
8	CCNT2	chr22:23744595-23745201	K562	blood:	n/a	n/a
9	CCNT2	chr22:23744248-23744361	K562	blood:	n/a	chr22:23744349-23744358
10	CEBPB	chr22:23743400-23743695	IMR90	lung:	n/a	n/a
11	CHD2	chr22:23744988-23745147	H1-hESC	embryonic stem cell:	n/a	n/a
12	CHD2	chr22:23728187-23728423	Hela-S3	cervix:	n/a	n/a
13	CHD2	chr22:23728125-23728366	GM12878	blood:	n/a	n/a
14	CHD2	chr22:23728114-23728387	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD2	chr22:23747083-23747102	HepG2	liver:	n/a	n/a
16	CREB1	chr22:23728057-23728438	A549	lung:	n/a	n/a
17	CREB1	chr22:23744835-23745161	A549	lung:	n/a	n/a
18	CTBP2	chr22:23744287-23745184	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr22:23728180-23728330	AoAF	blood vessel:	n/a	chr22:23728187-23728196 chr22:23728260-23728273 chr22:23728261-23728271 chr22:23728253-23728274 chr22:23728181-23728199 chr22:23728258-23728276 chr22:23728259-23728275
20	CTCF	chr22:23728121-23728408	GM10248	blood:	n/a	chr22:23728187-23728196 chr22:23728260-23728273 chr22:23728261-23728271 chr22:23728253-23728274 chr22:23728181-23728199 chr22:23728258-23728276 chr22:23728259-23728275
21	CTCF	chr22:23745020-23745170	HFF	foreskin:	n/a	chr22:23745058-23745071 chr22:23745064-23745077
22	CTCF	chr22:23728160-23728310	AG04450	lung:	n/a	chr22:23728187-23728196 chr22:23728260-23728273 chr22:23728261-23728271 chr22:23728253-23728274 chr22:23728181-23728199 chr22:23728258-23728276 chr22:23728259-23728275
23	CTCF	chr22:23728511-23728607	Fibrobl	skin:	n/a	n/a
24	CTCF	chr22:23744980-23745130	HRE	kidney:	n/a	chr22:23745058-23745071 chr22:23745064-23745077
25	CTCF	chr22:23728029-23728452	A549	lung:	n/a	chr22:23728187-23728196 chr22:23728260-23728273 chr22:23728261-23728271 chr22:23728253-23728274 chr22:23728181-23728199 chr22:23728258-23728276 chr22:23728259-23728275
26	CTCF	chr22:23744802-23745192	ECC-1	luminal epithelium:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
27	CTCF	chr22:23744980-23745130	GM12873	blood:	n/a	chr22:23745058-23745071 chr22:23745064-23745077
28	CTCF	chr22:23728067-23728436	NHEK	skin:	n/a	chr22:23728187-23728196 chr22:23728260-23728273 chr22:23728261-23728271 chr22:23728253-23728274 chr22:23728181-23728199 chr22:23728258-23728276 chr22:23728259-23728275
29	CTCF	chr22:23744980-23745130	GM12878	blood:	n/a	chr22:23745058-23745071 chr22:23745064-23745077
30	CTCF	chr22:23731598-23731767	HepG2	liver:	n/a	n/a
31	CTCF	chr22:23728180-23728330	HEK293	kidney:	n/a	chr22:23728187-23728196 chr22:23728260-23728273 chr22:23728261-23728271 chr22:23728253-23728274 chr22:23728181-23728199 chr22:23728258-23728276 chr22:23728259-23728275
32	CTCF	chr22:23728109-23728423	GM10266	blood:	n/a	chr22:23728187-23728196 chr22:23728260-23728273 chr22:23728261-23728271 chr22:23728253-23728274 chr22:23728181-23728199 chr22:23728258-23728276 chr22:23728259-23728275
33	CTCF	chr22:23728200-23728350	GM12873	blood:	n/a	chr22:23728260-23728273 chr22:23728261-23728271 chr22:23728253-23728274 chr22:23728258-23728276 chr22:23728259-23728275
34	CTCF	chr22:23728220-23728370	GM12869	blood:	n/a	chr22:23728260-23728273 chr22:23728261-23728271 chr22:23728253-23728274 chr22:23728258-23728276 chr22:23728259-23728275
35	CTCF	chr22:23727906-23727992	GM13977	blood:	n/a	n/a
36	CTCF	chr22:23728002-23728469	H1-hESC	embryonic stem cell:	n/a	chr22:23728187-23728196 chr22:23728260-23728273 chr22:23728261-23728271 chr22:23728253-23728274 chr22:23728181-23728199 chr22:23728258-23728276 chr22:23728259-23728275
37	CTCF	chr22:23728160-23728310	RPTEC	kidney:	n/a	chr22:23728187-23728196 chr22:23728260-23728273 chr22:23728261-23728271 chr22:23728253-23728274 chr22:23728181-23728199 chr22:23728258-23728276 chr22:23728259-23728275
38	CTCF	chr22:23728220-23728370	HRPEpiC	eye:	n/a	chr22:23728260-23728273 chr22:23728261-23728271 chr22:23728253-23728274 chr22:23728258-23728276 chr22:23728259-23728275
39	CTCF	chr22:23744863-23745197	GM12891	blood:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
40	CTCF	chr22:23744980-23745130	AG04449	skin:	n/a	chr22:23745058-23745071 chr22:23745064-23745077
41	CTCF	chr22:23728097-23728429	ProgFib	skin:	n/a	chr22:23728187-23728196 chr22:23728260-23728273 chr22:23728261-23728271 chr22:23728253-23728274 chr22:23728181-23728199 chr22:23728258-23728276 chr22:23728259-23728275
42	CTCF	chr22:23728083-23728622	Spleen_OC	spleen:	n/a	chr22:23728187-23728196 chr22:23728260-23728273 chr22:23728501-23728509 chr22:23728261-23728271 chr22:23728253-23728274 chr22:23728181-23728199 chr22:23728258-23728276 chr22:23728259-23728275
43	CTCF	chr22:23728160-23728310	HCM	heart:	n/a	chr22:23728187-23728196 chr22:23728260-23728273 chr22:23728261-23728271 chr22:23728253-23728274 chr22:23728181-23728199 chr22:23728258-23728276 chr22:23728259-23728275
44	CTCF	chr22:23745300-23745450	SK-N-SH_RA	brain:	n/a	n/a
45	CTCF	chr22:23727600-23727750	BE2_C	brain:	n/a	n/a
46	CTCF	chr22:23744893-23745174	A549	lung:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
47	CTCF	chr22:23744874-23745209	H1-hESC	embryonic stem cell:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077
48	CTCF	chr22:23728180-23728330	HBMEC	blood vessel:	n/a	chr22:23728187-23728196 chr22:23728260-23728273 chr22:23728261-23728271 chr22:23728253-23728274 chr22:23728181-23728199 chr22:23728258-23728276 chr22:23728259-23728275
49	CTCF	chr22:23728087-23728458	GM12891	blood:	n/a	chr22:23728187-23728196 chr22:23728260-23728273 chr22:23728261-23728271 chr22:23728253-23728274 chr22:23728181-23728199 chr22:23728258-23728276 chr22:23728259-23728275
50	CTCF	chr22:23744856-23745207	GM12892	blood:	n/a	chr22:23745058-23745071 chr22:23744976-23744994 chr22:23744979-23744992 chr22:23745064-23745077

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:23745131-23745181	HEEpiC	esophagus:	n/a
2	chr22:23745131-23745181	HEEpiC	esophagus:	n/a
3	chr22:23730283-23730333	IMR90	lung:	fetal
4	chr22:23728539-23728589	HEK293	kidney:	embryo
5	chr22:23744725-23744775	ECC-1	luminal epithelium:	n/a
6	chr22:23744094-23744144	HL-60	blood:	n/a
7	chr22:23730507-23730557	NT2-D1	testis:	n/a
8	chr22:23744725-23744775	AoSMC	blood vessel:	n/a
9	chr22:23744928-23744978	GM12892	blood:	n/a
10	chr22:23728539-23728589	HIPEpiC	eye:	n/a
11	chr22:23745131-23745181	AG04449	skin:	fetal
12	chr22:23745131-23745181	HRCEpiC	kidney:	n/a
13	chr22:23745389-23745439	Jurkat	blood:	n/a
14	chr22:23732191-23732241	GM19239	blood:	n/a
15	chr22:23745131-23745181	HNPCEpiC	eye:	n/a
16	chr22:23744928-23744978	HCM	heart:	n/a
17	chr22:23732191-23732241	BJ	skin:	n/a
18	chr22:23730283-23730333	GM12891	blood:	n/a
19	chr22:23730283-23730333	Hepatocyte	liver:	n/a
20	chr22:23732191-23732241	T-47D	breast:	n/a
21	chr22:23733812-23733862	U87	brain:	n/a
22	chr22:23744094-23744144	AG10803	skin:	n/a
23	chr22:23744094-23744144	PrEC	prostate:	n/a
24	chr22:23745389-23745439	PrEC	prostate:	n/a
25	chr22:23732191-23732241	AG10803	skin:	n/a
26	chr22:23729011-23729061	HRCEpiC	kidney:	n/a
27	chr22:23745389-23745439	Caco-2	colon:	n/a
28	chr22:23733812-23733862	MCF-7	breast:	n/a
29	chr22:23728539-23728589	U87	brain:	n/a
30	chr22:23744725-23744775	K562	blood:	n/a
31	chr22:23728539-23728589	MCF10A-Er-Src	breast:	n/a
32	chr22:23744928-23744978	NHBE	bronchial:	n/a
33	chr22:23744094-23744144	IMR90	lung:	fetal
34	chr22:23745389-23745439	AG04449	skin:	fetal
35	chr22:23730283-23730333	BE2_C	brain:	n/a
36	chr22:23744725-23744775	MCF10A-Er-Src	breast:	n/a
37	chr22:23728539-23728589	SK-N-SH_RA	brain:	n/a
38	chr22:23730283-23730333	MCF-7	breast:	n/a
39	chr22:23733812-23733862	SK-N-SH	brain:	n/a
40	chr22:23745131-23745181	SAEC	small airway:	n/a
41	chr22:23744725-23744775	RPTEC	kidney:	n/a
42	chr22:23745131-23745181	HL-60	blood:	n/a
43	chr22:23733812-23733862	HCM	heart:	n/a
44	chr22:23733812-23733862	NHBE	bronchial:	n/a
45	chr22:23744717-23744767	AG10803	skin:	n/a
46	chr22:23745389-23745439	BJ	skin:	n/a
47	chr22:23732191-23732241	HRE	kidney:	n/a
48	chr22:23744717-23744767	GM12891	blood:	n/a
49	chr22:23733812-23733862	HCT-116	colon:	n/a
50	chr22:23728539-23728589	PFSK-1	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:20255134..20257109-chr22:23743239..23744767,3	MCF-7	breast:
2	chr22:20255641..20256294-chr22:23744242..23744784,3	Hela-S3	cervix:
3	chr22:23302255..23302789-chr22:23727921..23728846,2	MCF-7	breast:
4	chr22:23728174..23728812-chr22:23881510..23882034,2	K562	blood:
5	chr22:23733508..23735532-chr22:23736840..23739183,2	MCF-7	breast:
6	chr22:20253259..20257319-chr22:23743216..23746275,4	K562	blood:
7	chr22:20255172..20256299-chr22:23744215..23745345,10	MCF-7	breast:
8	chr22:20255555..20256232-chr22:23744733..23745268,3	MCF-7	breast:
9	chr22:23301211..23301928-chr22:23727836..23728728,3	MCF-7	breast:
10	chr22:23737797..23740711-chr22:23742133..23744059,2	MCF-7	breast:
11	chr22:23301210..23302026-chr22:23727802..23728448,2	MCF-7	breast:
12	chr22:23301153..23301965-chr22:23727829..23728713,3	K562	blood:
13	chr22:23657846..23658387-chr22:23727772..23728507,2	K562	blood:
14	chr22:23745391..23747934-chr22:23759747..23762327,2	MCF-7	breast:
15	chr22:23664524..23665241-chr22:23727504..23728710,4	MCF-7	breast:
16	chr22:23657499..23658384-chr22:23727787..23728714,3	MCF-7	breast:
17	chr22:23737797..23740711-chr22:23742133..23744059,2	MCF-7	breast:
18	chr22:20255606..20257319-chr22:23743223..23746226,3	K562	blood:
19	chr22:20255195..20256295-chr22:23744242..23744859,6	MCF-7	breast:
20	chr22:23705328..23706086-chr22:23727709..23728285,2	MCF-7	breast:
21	chr22:20255317..20256206-chr22:23744235..23745365,12	HCT-116	colon:
22	chr22:20255429..20256076-chr22:23744719..23745345,6	K562	blood:
23	chr22:23656155..23656793-chr22:23727780..23728604,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IGLL1-4	chr22:23734914-23735064	NONHSAT083880
2	lnc-IGLL1-4	chr22:23741771-23741795	NONHSAT083882
3	lnc-IGLL1-4	chr22:23740265-23740293	NONHSAT083882
4	lnc-IGLL1-4	chr22:23734772-23735020	NONHSAT083882
5	lnc-IGLL1-4	chr22:23736113-23736244	NONHSAT083882
6	lnc-IGLL1-4	chr22:23732833-23733911	NONHSAT083880

Variant related genes	Relation type
CES5AP1	TF binding region
ZDHHC8P1	TF binding region
ENSG00000248409	TF binding region
CES5AP1	CpG island
ZDHHC8P1	CpG island
ENSG00000248409	CpG island
ENSG00000040608	chromatin interactions
ENSG00000214526	chromatin interactions
ENSG00000248409	chromatin interactions

Extended variants
information (count: 1145 )
Associated
traits (count: 211 )

Variant overlapped rSNPs/rCNVs (count:1145 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35227587	chr22:23726905-23726906	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs534729071	chr22:23726941-23726942	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557738489	chr22:23726945-23726946	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs576065256	chr22:23727000-23727001	Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543092338	chr22:23727008-23727009	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs563193966	chr22:23727052-23727053	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs576692292	chr22:23727067-23727068	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs542006277	chr22:23727098-23727099	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs561963518	chr22:23727118-23727119	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs118082312	chr22:23727137-23727138	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs149549986	chr22:23727144-23727145	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs564278952	chr22:23727160-23727161	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs546216508	chr22:23727212-23727213	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs566794228	chr22:23727221-23727222	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs368434680	chr22:23727265-23727266	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs533355932	chr22:23727274-23727275	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs549932113	chr22:23727319-23727320	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs569915565	chr22:23727320-23727321	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs535400624	chr22:23727340-23727341	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs549170727	chr22:23727341-23727342	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs565883485	chr22:23727361-23727362	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs114676789	chr22:23727398-23727399	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs377411193	chr22:23727399-23727400	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs557879371	chr22:23727419-23727420	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs571301966	chr22:23727423-23727424	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs548824461	chr22:23727450-23727451	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs555833498	chr22:23727451-23727452	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs189128985	chr22:23727459-23727460	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs556718712	chr22:23727472-23727473	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs144230921	chr22:23727493-23727494	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs542140734	chr22:23727505-23727506	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs370095163	chr22:23727548-23727549	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs374852136	chr22:23727561-23727562	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs368147621	chr22:23727562-23727563	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs572294296	chr22:23727591-23727592	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs541271838	chr22:23727598-23727599	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs370694076	chr22:23727605-23727606	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs572409228	chr22:23727609-23727610	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs34977575	chr22:23727663-23727664	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs564578984	chr22:23727679-23727680	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs533296149	chr22:23727691-23727692	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs540436285	chr22:23727693-23727694	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs180967742	chr22:23727697-23727698	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs116973879	chr22:23727711-23727712	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs577091612	chr22:23727721-23727722	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs529152885	chr22:23727856-23727857	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs6003674	chr22:23727864-23727865	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs183898492	chr22:23727880-23727881	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs528292946	chr22:23727882-23727883	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs112306113	chr22:23727895-23727896	Weak transcription Enhancers Genic enhancers Bivalent Enhancer	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:542 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23708800-23728200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr22:23723800-23728600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr22:23725000-23727000	Enhancers	Gastric	stomach
4	chr22:23725000-23728600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr22:23725200-23727400	Enhancers	Brain Germinal Matrix	brain
6	chr22:23725200-23728600	Enhancers	Fetal Muscle Leg	muscle
7	chr22:23725200-23728800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr22:23725400-23736800	Weak transcription	Fetal Brain Female	brain
9	chr22:23725600-23727000	Enhancers	Fetal Intestine Large	intestine
10	chr22:23725600-23727600	Enhancers	Primary hematopoietic stem cells	blood
11	chr22:23725600-23728000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr22:23725600-23728600	Enhancers	Brain Cingulate Gyrus	brain
13	chr22:23725800-23727000	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr22:23725800-23727000	Enhancers	Brain Substantia Nigra	brain
15	chr22:23725800-23727000	Enhancers	Fetal Lung	lung
16	chr22:23725800-23727400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr22:23725800-23727600	Enhancers	Brain Hippocampus Middle	brain
18	chr22:23725800-23727800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr22:23726000-23727000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr22:23726000-23727000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr22:23726000-23727000	Enhancers	Brain Angular Gyrus	brain
22	chr22:23726000-23727000	Enhancers	Right Ventricle	heart
23	chr22:23726000-23727400	Enhancers	Fetal Intestine Small	intestine
24	chr22:23726200-23728000	Enhancers	Fetal Stomach	stomach
25	chr22:23726200-23728600	Enhancers	Ovary	ovary
26	chr22:23726200-23729800	Weak transcription	Spleen	Spleen
27	chr22:23726400-23734600	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr22:23726600-23727600	Enhancers	Placenta	Placenta
29	chr22:23726600-23727800	Weak transcription	A549	lung
30	chr22:23726600-23728400	Weak transcription	Fetal Thymus	thymus
31	chr22:23726600-23730000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr22:23726600-23731400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr22:23726800-23728000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr22:23726800-23728200	Weak transcription	Fetal Brain Male	brain
35	chr22:23726800-23728600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr22:23726800-23731400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr22:23726800-23733200	Weak transcription	Lung	lung
38	chr22:23726800-23739400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr22:23726800-23744200	Weak transcription	Brain Anterior Caudate	brain
40	chr22:23727000-23727400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr22:23727000-23727600	Weak transcription	Brain Substantia Nigra	brain
42	chr22:23727000-23728000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr22:23727000-23728000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr22:23727000-23728200	Weak transcription	Brain Angular Gyrus	brain
45	chr22:23727400-23728200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr22:23727400-23728600	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr22:23727400-23729200	Weak transcription	Brain Germinal Matrix	brain
48	chr22:23727400-23731200	Weak transcription	Fetal Intestine Small	intestine
49	chr22:23727600-23727800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr22:23727600-23727800	Enhancers	Brain Substantia Nigra	brain

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