Variant report

Variant	nsv933040
Chromosome Location	chr22:23747565-23922420
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2711)
CpG islands
(count:1465)
Chromatin interactive
region (count:62)
LncRNA
region (count:33)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2711 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:23878382-23878550	HepG2	liver:	n/a	n/a
2	ARID3A	chr22:23863258-23864255	HepG2	liver:	n/a	n/a
3	ARID3A	chr22:23881714-23882110	HepG2	liver:	n/a	n/a
4	ARID3A	chr22:23810108-23810480	HepG2	liver:	n/a	n/a
5	ARID3A	chr22:23858600-23858782	HepG2	liver:	n/a	n/a
6	ATF3	chr22:23863940-23864254	A549	lung:	n/a	n/a
7	BACH1	chr22:23863421-23863432	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr22:23863886-23864230	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr22:23885329-23885345	H1-hESC	embryonic stem cell:	n/a	n/a
10	BATF	chr22:23815225-23815371	GM12878	blood:	n/a	n/a
11	BATF	chr22:23827789-23828067	GM12878	blood:	n/a	n/a
12	BATF	chr22:23819974-23820417	GM12878	blood:	n/a	n/a
13	BATF	chr22:23814219-23814432	GM12878	blood:	n/a	n/a
14	BATF	chr22:23767816-23768461	GM12878	blood:	n/a	n/a
15	BATF	chr22:23768066-23768391	GM12878	blood:	n/a	n/a
16	BATF	chr22:23828883-23829053	GM12878	blood:	n/a	n/a
17	BATF	chr22:23881839-23882094	GM12878	blood:	n/a	n/a
18	BATF	chr22:23817542-23817698	GM12878	blood:	n/a	n/a
19	BATF	chr22:23827783-23828060	GM12878	blood:	n/a	n/a
20	BCL11A	chr22:23767732-23768425	GM12878	blood:	n/a	chr22:23767902-23767911
21	BCL11A	chr22:23827797-23828034	GM12878	blood:	n/a	n/a
22	BCL11A	chr22:23828873-23829061	GM12878	blood:	n/a	n/a
23	BCL11A	chr22:23814300-23814538	GM12878	blood:	n/a	n/a
24	BCL11A	chr22:23827775-23828065	GM12878	blood:	n/a	n/a
25	BCL11A	chr22:23768017-23768343	GM12878	blood:	n/a	n/a
26	BCL11A	chr22:23814796-23814963	GM12878	blood:	n/a	n/a
27	BCL11A	chr22:23819918-23820441	GM12878	blood:	n/a	n/a
28	BCL11A	chr22:23820122-23820430	GM12878	blood:	n/a	n/a
29	BCL3	chr22:23863677-23864155	A549	lung:	n/a	n/a
30	BCLAF1	chr22:23881803-23882075	GM12878	blood:	n/a	n/a
31	BHLHE40	chr22:23827779-23827957	HepG2	liver:	n/a	n/a
32	BHLHE40	chr22:23775264-23775617	HepG2	liver:	n/a	n/a
33	BHLHE40	chr22:23863386-23864287	HepG2	liver:	n/a	chr22:23864105-23864121 chr22:23864113-23864129 chr22:23864172-23864188
34	BHLHE40	chr22:23800642-23800955	HepG2	liver:	n/a	n/a
35	BHLHE40	chr22:23810980-23811147	HepG2	liver:	n/a	n/a
36	BHLHE40	chr22:23881814-23882106	GM12878	blood:	n/a	n/a
37	BHLHE40	chr22:23810674-23810961	HepG2	liver:	n/a	n/a
38	BHLHE40	chr22:23810151-23810450	HepG2	liver:	n/a	n/a
39	BHLHE40	chr22:23828739-23829217	HepG2	liver:	n/a	n/a
40	BHLHE40	chr22:23810125-23810453	HepG2	liver:	n/a	n/a
41	BHLHE40	chr22:23773469-23773794	K562	blood:	n/a	n/a
42	BRCA1	chr22:23864003-23864278	Hela-S3	cervix:	n/a	n/a
43	CBX3	chr22:23773490-23773804	K562	blood:	n/a	n/a
44	CBX3	chr22:23788342-23788762	K562	blood:	n/a	n/a
45	CBX3	chr22:23775349-23775809	K562	blood:	n/a	n/a
46	CBX3	chr22:23788409-23788674	K562	blood:	n/a	n/a
47	CBX3	chr22:23875553-23875885	K562	blood:	n/a	n/a
48	CBX3	chr22:23786453-23786683	K562	blood:	n/a	n/a
49	CBX3	chr22:23881715-23882150	K562	blood:	n/a	n/a
50	CBX3	chr22:23889426-23889665	K562	blood:	n/a	n/a

(count:1465 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:23867429-23867479	ECC-1	luminal epithelium:	n/a
2	chr22:23867429-23867479	ECC-1	luminal epithelium:	n/a
3	chr22:23908337-23908387	GM12891	blood:	n/a
4	chr22:23804719-23804769	Jurkat	blood:	n/a
5	chr22:23864344-23864394	HMEC	breast:	n/a
6	chr22:23799750-23799800	HNPCEpiC	eye:	n/a
7	chr22:23922378-23922428	H1-hESC	embryonic stem cell:	embryo
8	chr22:23922378-23922428	A549	lung:	n/a
9	chr22:23863649-23863699	K562	blood:	n/a
10	chr22:23802708-23802758	IMR90	lung:	fetal
11	chr22:23915573-23915623	HNPCEpiC	eye:	n/a
12	chr22:23908273-23908323	AG09319	gingival:	n/a
13	chr22:23864344-23864394	SK-N-SH_RA	brain:	n/a
14	chr22:23908225-23908275	HRPEpiC	eye:	n/a
15	chr22:23908225-23908275	BE2_C	brain:	n/a
16	chr22:23799750-23799800	MCF-7	breast:	n/a
17	chr22:23877425-23877475	BJ	skin:	n/a
18	chr22:23802708-23802758	BE2_C	brain:	n/a
19	chr22:23805705-23805755	ProgFib	skin:	n/a
20	chr22:23801478-23801528	U87	brain:	n/a
21	chr22:23911237-23911287	Jurkat	blood:	n/a
22	chr22:23908225-23908275	NH-A	brain:	n/a
23	chr22:23909533-23909583	HRCEpiC	kidney:	n/a
24	chr22:23799750-23799800	HRE	kidney:	n/a
25	chr22:23864344-23864394	AG04449	skin:	fetal
26	chr22:23911237-23911287	Caco-2	colon:	n/a
27	chr22:23864945-23864995	GM12892	blood:	n/a
28	chr22:23799750-23799800	GM12891	blood:	n/a
29	chr22:23802502-23802552	HEEpiC	esophagus:	n/a
30	chr22:23867429-23867479	AG04449	skin:	fetal
31	chr22:23908776-23908826	NH-A	brain:	n/a
32	chr22:23805705-23805755	SK-N-MC	brain:	n/a
33	chr22:23863649-23863699	HEK293	kidney:	embryo
34	chr22:23909177-23909227	HEEpiC	esophagus:	n/a
35	chr22:23915573-23915623	HPAEpiC	pulmonary alveolar:	n/a
36	chr22:23877425-23877475	Hepatocyte	liver:	n/a
37	chr22:23908337-23908387	GM12892	blood:	n/a
38	chr22:23802708-23802758	Jurkat	blood:	n/a
39	chr22:23864945-23864995	BE2_C	brain:	n/a
40	chr22:23908273-23908323	SK-N-SH	brain:	n/a
41	chr22:23860693-23860743	H1-hESC	embryonic stem cell:	embryo
42	chr22:23805705-23805755	HRE	kidney:	n/a
43	chr22:23805705-23805755	LNCaP	prostate:	n/a
44	chr22:23877425-23877475	RPTEC	kidney:	n/a
45	chr22:23908225-23908275	SAEC	small airway:	n/a
46	chr22:23802708-23802758	GM19239	blood:	n/a
47	chr22:23805705-23805755	NHDF-neo	bronchial:	n/a
48	chr22:23804719-23804769	Caco-2	colon:	n/a
49	chr22:23799750-23799800	ovcar-3	ovarian:	n/a
50	chr22:23801478-23801528	HCPEpiC	choroid plexus:	n/a

(count:62 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr22:23874366..23877000-chr22:23881592..23884762,3	K562	blood:
2	chr22:23883865..23884647-chr22:23933037..23933956,4	MCF-7	breast:
3	chr22:23772556..23774777-chr7:1920577..1922999,2	K562	blood:
4	chr22:23811117..23813674-chr22:23862180..23864787,2	MCF-7	breast:
5	chr22:23771574..23774271-chr7:1915099..1916676,3	K562	blood:
6	chr19:47251886..47252386-chr22:23844118..23844644,2	HCT-116	colon:
7	chr22:23769141..23771372-chr22:23773918..23775518,2	MCF-7	breast:
8	chr22:23875208..23878117-chr22:23883264..23885311,3	MCF-7	breast:
9	chr22:23745391..23747934-chr22:23759747..23762327,2	MCF-7	breast:
10	chr22:23744538..23745044-chr22:23881664..23882396,2	K562	blood:
11	chr22:23892892..23894631-chr22:23897387..23899648,2	K562	blood:
12	chr22:23881511..23882334-chr22:23933445..23934019,2	K562	blood:
13	chr22:23874366..23877000-chr22:23881592..23884762,3	K562	blood:
14	chr22:23883630..23884898-chr22:24191414..24192261,3	K562	blood:
15	chr22:23905464..23907819-chr22:23909904..23911511,2	K562	blood:
16	chr22:23920539..23922583-chr22:23925268..23927235,2	K562	blood:
17	chr22:23767599..23770526-chr22:23770883..23773096,2	K562	blood:
18	chr22:23858440..23860461-chr22:23862149..23863761,2	MCF-7	breast:
19	chr22:23769141..23771372-chr22:23773918..23775518,2	MCF-7	breast:
20	chr22:23859430..23862351-chr22:23863898..23865581,2	K562	blood:
21	chr22:23868145..23870086-chr22:23875004..23877580,2	K562	blood:
22	chr22:23891421..23893937-chr22:23894795..23897461,2	MCF-7	breast:
23	chr22:23868112..23870086-chr22:23875004..23877580,3	K562	blood:
24	chr22:23744407..23745113-chr22:23907526..23908061,2	MCF-7	breast:
25	chr22:23856231..23859359-chr22:23861077..23864604,3	MCF-7	breast:
26	chr22:23770302..23775681-chr7:1914349..1918723,8	MCF-7	breast:
27	chr22:23773942..23774594-chr7:1915027..1915991,2	MCF-7	breast:
28	chr22:23874575..23877000-chr22:23881592..23883408,2	K562	blood:
29	chr22:23771574..23774271-chr7:1915104..1916676,2	K562	blood:
30	chr22:23863382..23864094-chr3:149094164..149094990,2	Hela-S3	cervix:
31	chr22:23895065..23897236-chr22:23904486..23906472,2	K562	blood:
32	chr22:23858440..23860461-chr22:23862149..23863761,2	MCF-7	breast:
33	chr22:23891421..23893937-chr22:23894795..23897461,2	MCF-7	breast:
34	chr22:23744768..23746471-chr22:23859357..23862197,2	K562	blood:
35	chr22:23893247..23893747-chr9:132157667..132158492,2	Hela-S3	cervix:
36	chr22:23856231..23859359-chr22:23861077..23864604,3	MCF-7	breast:
37	chr22:23301061..23301948-chr22:23881493..23882402,2	K562	blood:
38	chr22:23905464..23907819-chr22:23909904..23911511,2	K562	blood:
39	chr22:23804034..23806130-chr22:23807353..23810139,2	K562	blood:
40	chr22:23767599..23770526-chr22:23770883..23773096,2	K562	blood:
41	chr22:23895065..23897236-chr22:23904486..23906472,2	K562	blood:
42	chr22:23868112..23870086-chr22:23875004..23877580,3	K562	blood:
43	chr22:23871169..23871741-chr9:132168269..132168973,2	Hela-S3	cervix:
44	chr22:23744374..23745494-chr22:23881473..23882515,11	MCF-7	breast:
45	chr22:23859430..23862351-chr22:23863898..23865581,2	K562	blood:
46	chr22:23868145..23870086-chr22:23875004..23877580,2	K562	blood:
47	chr22:23849776..23850286-chr9:132211065..132211602,2	MCF-7	breast:
48	chr22:23856493..23858468-chr22:23863057..23865476,2	K562	blood:
49	chr22:23875211..23877435-chr22:24108906..24110588,2	MCF-7	breast:
50	chr22:23870628..23873607-chr22:23875674..23878639,2	MCF-7	breast:

(count:33 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RGL4-3	chr22:23893497-23894217	XLOC_014174
2	lnc-RGL4-4	chr22:23838524-23838909	XLOC_014172
3	lnc-RGL4-2	chr22:23909251-23909511	ENSG00000224277.1
4	lnc-IGLL1-2	chr22:23825255-23825313	ENSG00000178248
5	lnc-IGLL1-2	chr22:23829066-23829093	ENSG00000178248
6	lnc-RGL4-3	chr22:23894435-23894725	XLOC_014174
7	lnc-RGL4-2	chr22:23910239-23910284	XLOC_014175
8	lnc-RGL4-4	chr22:23852140-23852384	XLOC_014172
9	lnc-RGL4-2	chr22:23910747-23910829	ENSG00000224277.1
10	lnc-IGLL1-2	chr22:23824762-23824792	ENSG00000178248
11	lnc-BCR-2	chr22:23775751-23776248	ENSG00000234928
12	lnc-IGLL1-2	chr22:23812502-23812523	ENSG00000178248
13	lnc-RGL4-2	chr22:23910239-23910284	ENSG00000224277.1
14	lnc-RGL4-2	chr22:23910747-23910829	XLOC_014175
15	lnc-RGL4-4	chr22:23838524-23838710	XLOC_014172
16	lnc-RGL4-2	chr22:23915652-23915694	ENSG00000224277.1
17	lnc-RGL4-4	chr22:23838524-23838710	XLOC_014172
18	lnc-BCR-2	chr22:23776358-23776522	ENSG00000234928
19	lnc-RGL4-2	chr22:23914733-23914811	XLOC_014175
20	lnc-RGL4-4	chr22:23834998-23835089	XLOC_014172
21	lnc-IGLL1-2	chr22:23812995-23813350	ENSG00000178248
22	lnc-IGLL1-2	chr22:23816064-23816125	ENSG00000178248
23	lnc-BCR-2	chr22:23776747-23776917	ENSG00000234928
24	lnc-RGL4-2	chr22:23909251-23909511	XLOC_014175
25	lnc-RGL4-4	chr22:23834998-23835089	XLOC_014172
26	lnc-RGL4-2	chr22:23915210-23915309	XLOC_014175
27	lnc-RGL4-4	chr22:23854168-23854172	XLOC_014172
28	lnc-RGL4-4	chr22:23852140-23852694	XLOC_014172
29	lnc-BCR-2	chr22:23776747-23776918	ENSG00000234928
30	lnc-IGLL1-2	chr22:23822604-23822687	ENSG00000178248
31	lnc-IGLL1-2	chr22:23812181-23812224	ENSG00000178248
32	lnc-BCR-2	chr22:23777011-23777258	ENSG00000234928
33	lnc-IGLL1-2	chr22:23815565-23815598	ENSG00000178248

No data

Variant related genes	Relation type
ENSG00000224277	TF binding region
ENSG00000178248	TF binding region
ENSG00000227755	TF binding region
ENSG00000234928	TF binding region
ZDHHC8P1	TF binding region
ENSG00000225413	TF binding region
ENSG00000224277	CpG island
ENSG00000178248	CpG island
ENSG00000227755	CpG island
ENSG00000234928	CpG island
ZDHHC8P1	CpG island
ENSG00000225413	CpG island
ENSG00000250479	chromatin interactions
ENSG00000128322	chromatin interactions
ENSG00000099953	chromatin interactions
ENSG00000133519	chromatin interactions
ENSG00000181027	chromatin interactions
ENSG00000272733	chromatin interactions
NFE2L1	miRNA target sites
NFE2L2	miRNA target sites
RUNX1	miRNA target sites
SATB1	miRNA target sites
NFATC3	miRNA target sites
PI4KB	miRNA target sites

Extended variants
information (count: 8316 )
Associated
traits (count: 217 )

Variant overlapped rSNPs/rCNVs (count:8316 , 50 per page) page: 1 2 3 4 5 6 7 ... 167

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575642543	chr22:23747573-23747574	Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs577198434	chr22:23747592-23747593	Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs546077535	chr22:23747595-23747596	Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs111523819	chr22:23747596-23747597	Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs368118042	chr22:23747598-23747599	Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs35799608	chr22:23747610-23747611	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs34223461	chr22:23747624-23747625	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs11090245	chr22:23747657-23747658	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs527396685	chr22:23747659-23747660	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547207611	chr22:23747660-23747661	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs13056272	chr22:23747665-23747666	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs140010203	chr22:23747677-23747678	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185891167	chr22:23747714-23747715	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374467986	chr22:23747719-23747720	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74743789	chr22:23747793-23747794	Enhancers Bivalent Enhancer Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs79325976	chr22:23747819-23747820	Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs9624143	chr22:23747870-23747871	Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs143714600	chr22:23747885-23747886	Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs534280893	chr22:23747920-23747921	Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs554023386	chr22:23747935-23747936	Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs550289590	chr22:23747936-23747937	Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs577162641	chr22:23747963-23747964	Bivalent Enhancer Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs539462132	chr22:23748006-23748007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556446908	chr22:23748018-23748019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs117460560	chr22:23748043-23748044	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113279376	chr22:23748072-23748073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs368400111	chr22:23748073-23748074	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34340351	chr22:23748126-23748127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577772761	chr22:23748135-23748136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs5751648	chr22:23748149-23748150	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs75454165	chr22:23748206-23748207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568819353	chr22:23748292-23748293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540082897	chr22:23748325-23748326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs151264149	chr22:23748332-23748333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs115995208	chr22:23748336-23748337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139572160	chr22:23748350-23748351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7292300	chr22:23748369-23748370	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs369313609	chr22:23748371-23748372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531868908	chr22:23748402-23748403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs149732149	chr22:23748451-23748452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200188297	chr22:23748463-23748464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71200859	chr22:23748465-23748466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371341649	chr22:23748466-23748467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373184048	chr22:23748471-23748472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534169970	chr22:23748496-23748497	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs373216582	chr22:23748506-23748507	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs368468781	chr22:23748521-23748522	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs386820065	chr22:23748523-23748524	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs371049997	chr22:23748525-23748526	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs370098651	chr22:23748528-23748529	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:217)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
abnormal development	18461090	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:2451 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23745000-23754600	Weak transcription	Right Atrium	heart
2	chr22:23745400-23747600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr22:23745400-23757400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr22:23745600-23747600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr22:23745800-23747800	Weak transcription	Brain Germinal Matrix	brain
6	chr22:23746600-23747600	Enhancers	Placenta	Placenta
7	chr22:23747000-23748000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr22:23747000-23748000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr22:23747200-23747800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr22:23747400-23747800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr22:23747400-23748000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr22:23747400-23748000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr22:23747400-23749400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr22:23747600-23747800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr22:23747800-23748000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr22:23747800-23748000	Enhancers	Brain Germinal Matrix	brain
17	chr22:23747800-23748200	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr22:23748000-23748400	Weak transcription	Brain Germinal Matrix	brain
19	chr22:23748000-23757200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr22:23749400-23749800	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr22:23749400-23750000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr22:23750400-23751200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr22:23750800-23751000	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr22:23750800-23751200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr22:23752600-23755600	Enhancers	Fetal Thymus	thymus
26	chr22:23752800-23754800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr22:23753200-23754400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
28	chr22:23753200-23754800	Enhancers	Thymus	Thymus
29	chr22:23753400-23754400	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr22:23753400-23754800	Enhancers	Primary T cells from cord blood	blood
31	chr22:23753400-23754800	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr22:23753400-23755800	Enhancers	Dnd41	blood
33	chr22:23753600-23753800	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr22:23753800-23754400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr22:23754200-23755000	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr22:23754400-23755000	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr22:23754400-23755200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr22:23755200-23755400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr22:23755600-23760200	Weak transcription	Fetal Thymus	thymus
40	chr22:23757200-23757800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr22:23757400-23758000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr22:23757400-23758400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr22:23757400-23759000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr22:23757800-23758000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr22:23757800-23758000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr22:23757800-23758400	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr22:23758000-23773000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr22:23758200-23759000	Enhancers	Adipose Nuclei	Adipose
49	chr22:23758400-23758800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr22:23758400-23759800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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