Variant report

Variant	nsv1066498
Chromosome Location	chr22:21607072-21845055
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4935)
CpG islands
(count:2259)
Chromatin interactive
region (count:19)
LncRNA
region (count:49)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:4935 , 50 per page) page: 1 2 3 4 5 6 7 ... 99

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:21811453-21812088	HepG2	liver:	n/a	n/a
2	ATF1	chr22:21822456-21822596	K562	blood:	n/a	n/a
3	ATF3	chr22:21799163-21799497	K562	blood:	n/a	n/a
4	BACH1	chr22:21810600-21810850	H1-hESC	embryonic stem cell:	n/a	n/a
5	BATF	chr22:21643995-21645011	GM12878	blood:	n/a	n/a
6	BATF	chr22:21659324-21659520	GM12878	blood:	n/a	n/a
7	BATF	chr22:21680010-21680280	GM12878	blood:	n/a	n/a
8	BATF	chr22:21630913-21631158	GM12878	blood:	n/a	n/a
9	BATF	chr22:21671350-21671638	GM12878	blood:	n/a	n/a
10	BATF	chr22:21754245-21754462	GM12878	blood:	n/a	n/a
11	BATF	chr22:21661486-21661800	GM12878	blood:	n/a	n/a
12	BATF	chr22:21680783-21681060	GM12878	blood:	n/a	n/a
13	BATF	chr22:21649952-21650430	GM12878	blood:	n/a	n/a
14	BATF	chr22:21653924-21654130	GM12878	blood:	n/a	n/a
15	BATF	chr22:21659286-21659493	GM12878	blood:	n/a	n/a
16	BATF	chr22:21642702-21642952	GM12878	blood:	n/a	n/a
17	BATF	chr22:21667975-21668247	GM12878	blood:	n/a	n/a
18	BATF	chr22:21662377-21662584	GM12878	blood:	n/a	n/a
19	BATF	chr22:21822372-21822581	GM12878	blood:	n/a	n/a
20	BATF	chr22:21664502-21664702	GM12878	blood:	n/a	n/a
21	BATF	chr22:21679248-21679454	GM12878	blood:	n/a	n/a
22	BATF	chr22:21660566-21660798	GM12878	blood:	n/a	n/a
23	BATF	chr22:21677006-21677202	GM12878	blood:	n/a	n/a
24	BATF	chr22:21738444-21738711	GM12878	blood:	n/a	n/a
25	BATF	chr22:21670784-21671270	GM12878	blood:	n/a	n/a
26	BATF	chr22:21633690-21634128	GM12878	blood:	n/a	n/a
27	BATF	chr22:21686882-21687165	GM12878	blood:	n/a	n/a
28	BATF	chr22:21666477-21666908	GM12878	blood:	n/a	chr22:21666820-21666830
29	BATF	chr22:21680752-21681052	GM12878	blood:	n/a	n/a
30	BATF	chr22:21680010-21680279	GM12878	blood:	n/a	n/a
31	BATF	chr22:21665627-21665835	GM12878	blood:	n/a	n/a
32	BATF	chr22:21612702-21613053	GM12878	blood:	n/a	n/a
33	BATF	chr22:21647063-21647283	GM12878	blood:	n/a	n/a
34	BATF	chr22:21661897-21662111	GM12878	blood:	n/a	n/a
35	BATF	chr22:21643643-21643852	GM12878	blood:	n/a	n/a
36	BATF	chr22:21664688-21664901	GM12878	blood:	n/a	n/a
37	BATF	chr22:21644369-21644724	GM12878	blood:	n/a	n/a
38	BATF	chr22:21643759-21643961	GM12878	blood:	n/a	n/a
39	BATF	chr22:21649545-21649756	GM12878	blood:	n/a	chr22:21649662-21649673
40	BATF	chr22:21629925-21630195	GM12878	blood:	n/a	n/a
41	BATF	chr22:21656504-21656819	GM12878	blood:	n/a	n/a
42	BATF	chr22:21622260-21622514	GM12878	blood:	n/a	n/a
43	BATF	chr22:21668510-21668775	GM12878	blood:	n/a	n/a
44	BATF	chr22:21665661-21665880	GM12878	blood:	n/a	n/a
45	BATF	chr22:21771592-21771785	GM12878	blood:	n/a	n/a
46	BATF	chr22:21629855-21630214	GM12878	blood:	n/a	n/a
47	BATF	chr22:21640199-21640520	GM12878	blood:	n/a	n/a
48	BATF	chr22:21667217-21667566	GM12878	blood:	n/a	n/a
49	BATF	chr22:21655763-21656117	GM12878	blood:	n/a	n/a
50	BATF	chr22:21822965-21823191	GM12878	blood:	n/a	n/a

(count:2259 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:21773494-21773544	NB4	blood:	n/a
2	chr22:21714051-21714101	SK-N-SH_RA	brain:	n/a
3	chr22:21773494-21773544	NB4	blood:	n/a
4	chr22:21714051-21714101	SK-N-SH_RA	brain:	n/a
5	chr22:21798159-21798209	HRPEpiC	eye:	n/a
6	chr22:21802598-21802648	HUVEC	blood vessel:	n/a
7	chr22:21798159-21798209	RPTEC	kidney:	n/a
8	chr22:21714908-21714958	MCF-7	breast:	n/a
9	chr22:21636474-21636524	Hepatocyte	liver:	n/a
10	chr22:21735028-21735078	U87	brain:	n/a
11	chr22:21770821-21770871	HRCEpiC	kidney:	n/a
12	chr22:21823558-21823608	Caco-2	colon:	n/a
13	chr22:21802598-21802648	HCPEpiC	choroid plexus:	n/a
14	chr22:21621725-21621775	ECC-1	luminal epithelium:	n/a
15	chr22:21823579-21823629	HCF	heart:	n/a
16	chr22:21821976-21822026	AG09309	skin:	n/a
17	chr22:21636474-21636524	HRCEpiC	kidney:	n/a
18	chr22:21802598-21802648	U87	brain:	n/a
19	chr22:21773494-21773544	IMR90	lung:	fetal
20	chr22:21771551-21771601	MCF-7	breast:	n/a
21	chr22:21823579-21823629	IMR90	lung:	fetal
22	chr22:21817930-21817980	NT2-D1	testis:	n/a
23	chr22:21822779-21822829	A549	lung:	n/a
24	chr22:21660828-21660878	AoSMC	blood vessel:	n/a
25	chr22:21660828-21660878	HRPEpiC	eye:	n/a
26	chr22:21710822-21710872	H1-hESC	embryonic stem cell:	embryo
27	chr22:21822779-21822829	HCF	heart:	n/a
28	chr22:21801764-21801814	BE2_C	brain:	n/a
29	chr22:21823558-21823608	Hepatocyte	liver:	n/a
30	chr22:21822289-21822339	AG04449	skin:	fetal
31	chr22:21771551-21771601	IMR90	lung:	fetal
32	chr22:21823579-21823629	AG09309	skin:	n/a
33	chr22:21825384-21825434	GM19239	blood:	n/a
34	chr22:21774669-21774719	Jurkat	blood:	n/a
35	chr22:21820215-21820265	SK-N-SH	brain:	n/a
36	chr22:21714051-21714101	HAEpiC	amniotic membrane:	n/a
37	chr22:21801764-21801814	HCF	heart:	n/a
38	chr22:21636512-21636562	T-47D	breast:	n/a
39	chr22:21715770-21715820	HCPEpiC	choroid plexus:	n/a
40	chr22:21821976-21822026	HCF	heart:	n/a
41	chr22:21710822-21710872	HEK293	kidney:	embryo
42	chr22:21770821-21770871	NT2-D1	testis:	n/a
43	chr22:21823579-21823629	HIPEpiC	eye:	n/a
44	chr22:21692413-21692463	HIPEpiC	eye:	n/a
45	chr22:21821976-21822026	HMEC	breast:	n/a
46	chr22:21800832-21800882	AG04449	skin:	fetal
47	chr22:21639231-21639281	PFSK-1	brain:	n/a
48	chr22:21714051-21714101	HCM	heart:	n/a
49	chr22:21621725-21621775	SKMC	muscle:	n/a
50	chr22:21664376-21664426	HIPEpiC	eye:	n/a

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:21757262..21759399-chr22:21922328..21924805,2	K562	blood:
2	chr22:21808392..21810710-chr22:21921341..21923915,2	K562	blood:
3	chr22:21810804..21813538-chr22:21813549..21815062,2	K562	blood:
4	chr22:21771959..21773481-chr22:21799015..21800950,2	K562	blood:
5	chr22:21804862..21806367-chr22:21977646..21980199,2	K562	blood:
6	chr22:21801167..21803147-chr22:21981640..21983614,2	K562	blood:
7	chr22:21799659..21804135-chr22:21977326..21984068,6	K562	blood:
8	chr22:21801362..21804188-chr22:22036295..22038184,2	K562	blood:
9	chr12:89917592..89920413-chr22:21802852..21804467,2	MCF-7	breast:
10	chr22:21799835..21803948-chr22:22005820..22007869,4	K562	blood:
11	chr22:21771959..21773481-chr22:21799015..21800950,2	K562	blood:
12	chr22:21802032..21802554-chr22:22000750..22001398,2	K562	blood:
13	chr22:21802884..21804534-chr22:21977171..21979118,2	K562	blood:
14	chr22:21821074..21822903-chr22:21982952..21985553,3	K562	blood:
15	chr22:21805758..21807437-chr22:21977909..21980793,2	K562	blood:
16	chr22:21810804..21813538-chr22:21813549..21815062,2	K562	blood:
17	chr22:21800442..21802407-chr22:21977326..21979370,2	K562	blood:
18	chr22:21821085..21824065-chr22:21983565..21985249,2	K562	blood:
19	chr22:21807608..21809744-chr22:21982806..21985295,2	K562	blood:

(count:49 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AP000552.1-1	chr22:21667209-21667325	ENSG00000237407
2	lnc-RIMBP3B-1	chr22:21743480-21743780	NONHSAT083665
3	lnc-HIC2-1	chr22:21820783-21821265	ENSG00000206140
4	lnc-GGT2-2	chr22:21655286-21655713	NONHSAT083653
5	lnc-GGT2-2	chr22:21666528-21666589	ENSG00000206142
6	lnc-GGT2-2	chr22:21677085-21677224	ENSG00000206142
7	lnc-GGT2-2	chr22:21666528-21666589	ENSG00000206142
8	lnc-GGT2-2	chr22:21679120-21679226	ENSG00000206142
9	lnc-GGT2-2	chr22:21677085-21677143	ENSG00000206142
10	lnc-GGT2-2	chr22:21673559-21673645	ENSG00000206142
11	lnc-GGT2-2	chr22:21668589-21668654	ENSG00000206142
12	lnc-GGT2-2	chr22:21676592-21676616	ENSG00000206142
13	lnc-GGT2-2	chr22:21668589-21668654	ENSG00000206142
14	lnc-AP000552.1-1	chr22:21668536-21669193	ENSG00000237407
15	lnc-GGT2-2	chr22:21677085-21677143	ENSG00000206142
16	lnc-GGT2-2	chr22:21676237-21676616	ENSG00000206142
17	lnc-RIMBP3C-3	chr22:21803801-21805329	NONHSAT083673
18	lnc-GGT2-2	chr22:21677085-21677143	ENSG00000206142
19	lnc-GGT2-2	chr22:21668589-21668654	NONHSAT083653
20	lnc-GGT2-2	chr22:21675881-21676008	ENSG00000206142
21	lnc-GGT2-2	chr22:21676592-21676616	NONHSAT083653
22	lnc-GGT2-2	chr22:21679120-21679331	ENSG00000206142
23	lnc-RIMBP3B-2	chr22:21725711-21725760	l_2251_chr22:21725710-21727925_testes
24	lnc-GGT2-2	chr22:21655286-21655713	ENSG00000206142
25	lnc-GGT2-2	chr22:21673559-21673645	ENSG00000206142
26	lnc-GGT2-2	chr22:21666029-21666062	ENSG00000206142
27	lnc-GGT2-2	chr22:21676592-21676616	ENSG00000206142
28	lnc-GGT2-2	chr22:21666528-21666589	ENSG00000206142
29	lnc-GGT2-2	chr22:21676484-21676616	ENSG00000206142
30	lnc-GGT2-2	chr22:21660358-21661314	ENSG00000206142
31	lnc-GGT2-2	chr22:21660358-21661314	NONHSAT083653
32	lnc-GGT2-2	chr22:21666029-21666062	NONHSAT083653
33	lnc-GGT2-2	chr22:21673559-21673645	NONHSAT083653
34	lnc-GGT2-2	chr22:21676592-21676616	ENSG00000206142
35	lnc-GGT2-2	chr22:21679120-21679256	ENSG00000206142
36	lnc-GGT2-2	chr22:21677085-21677147	ENSG00000206142
37	lnc-GGT2-2	chr22:21673559-21673645	ENSG00000206142
38	lnc-RIMBP3B-2	chr22:21726368-21726939	l_2251_chr22:21725710-21727925_testes
39	lnc-GGT2-2	chr22:21677085-21677166	NONHSAT083653
40	lnc-GGT2-2	chr22:21679120-21679256	ENSG00000206142
41	lnc-GGT2-2	chr22:21677085-21677273	ENSG00000206142
42	lnc-GGT2-2	chr22:21668589-21668654	ENSG00000206142
43	lnc-GGT2-2	chr22:21673559-21673645	ENSG00000206142
44	lnc-GGT2-2	chr22:21666528-21666589	NONHSAT083653
45	lnc-GGT2-2	chr22:21666029-21666062	ENSG00000206142
46	lnc-GGT2-2	chr22:21666029-21666062	ENSG00000206142
47	lnc-RIMBP3B-2	chr22:21727743-21727925	l_2251_chr22:21725710-21727925_testes
48	lnc-GGT2-2	chr22:21676430-21676616	ENSG00000206142
49	lnc-GGT2-2	chr22:21677152-21677166	ENSG00000206142

No data

(count:3 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	HIC2	hsa-miR-30b-5p	chr22:21803819-21803840
2	HIC2	hsa-miR-24-3p	chr22:21801714-21801720
3	HIC2	hsa-miR-30b-5p	chr22:21803833-21803840

Variant related genes	Relation type
ENSG00000252020	TF binding region
ENSG00000226885	TF binding region
ENSG00000226534	TF binding region
RN7SKP63	TF binding region
ENSG00000252402	TF binding region
POM121L8P	TF binding region
BCRP6	TF binding region
ENSG00000237407	TF binding region
PPP1R26P5	TF binding region
TMEM191C	TF binding region
ENSG00000252314	TF binding region
RIMBP3B	TF binding region
HIC2	TF binding region
FAM230C	TF binding region
PI4KAP2	TF binding region
ENSG00000252020	CpG island
ENSG00000226885	CpG island
ENSG00000226534	CpG island
RN7SKP63	CpG island
ENSG00000252402	CpG island
POM121L8P	CpG island
BCRP6	CpG island
ENSG00000237407	CpG island
PPP1R26P5	CpG island
TMEM191C	CpG island
ENSG00000252314	CpG island
RIMBP3B	CpG island
HIC2	CpG island
FAM230C	CpG island
PI4KAP2	CpG island
ENSG00000185651	chromatin interactions
ENSG00000257594	chromatin interactions
ENSG00000212102	chromatin interactions
ENSG00000270344	chromatin interactions
ENSG00000207751	chromatin interactions
ENSG00000259075	chromatin interactions
ENSG00000161179	chromatin interactions
ENSG00000100023	chromatin interactions
ENSG00000139323	chromatin interactions

Extended variants
information (count: 2454 )
Associated
traits (count: 233 )

Variant overlapped rSNPs/rCNVs (count:2454 , 50 per page) page: 1 2 3 4 5 6 7 ... 50

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201053082	chr22:21607424-21607425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs394518	chr22:21607446-21607447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568123783	chr22:21607548-21607549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533918040	chr22:21607558-21607559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs847049	chr22:21607575-21607576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547589737	chr22:21607597-21607598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs368399428	chr22:21607652-21607653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570692481	chr22:21607901-21607902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539270107	chr22:21607917-21607918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs370213818	chr22:21607974-21607975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556394552	chr22:21607985-21607986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs9608849	chr22:21608188-21608189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576258949	chr22:21608218-21608219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538198500	chr22:21608260-21608261	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554584456	chr22:21608282-21608283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs55638717	chr22:21608306-21608307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs377058946	chr22:21608319-21608320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79762586	chr22:21608325-21608326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs398061830	chr22:21608328-21608329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs4467372	chr22:21608357-21608358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs547665095	chr22:21608358-21608359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2096684	chr22:21608470-21608471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2019503	chr22:21608479-21608480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569762191	chr22:21608503-21608504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574590676	chr22:21608517-21608518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs558708034	chr22:21608547-21608548	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs9608850	chr22:21608560-21608561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540355963	chr22:21608585-21608586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs201219761	chr22:21608605-21608606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs111954150	chr22:21608663-21608664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565768590	chr22:21608669-21608670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs364074	chr22:21608737-21608738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560299633	chr22:21608752-21608753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs364075	chr22:21608757-21608758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530120137	chr22:21608760-21608761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201373574	chr22:21608779-21608780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373387442	chr22:21608780-21608781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199851794	chr22:21608797-21608798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200448883	chr22:21608812-21608813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577334058	chr22:21608842-21608843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs546103842	chr22:21608899-21608900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563152877	chr22:21608926-21608927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs201306178	chr22:21608974-21608975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs199986170	chr22:21608988-21608989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531924031	chr22:21608998-21608999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200498985	chr22:21609020-21609021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374886007	chr22:21609021-21609022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201047246	chr22:21609061-21609062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201121765	chr22:21609069-21609070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548161438	chr22:21609082-21609083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:233)

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
Lung cancer	18438408	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
Acute lymphoblastic leukemia	19100363	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
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	22286061	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
Autism	19521722	CNVD
Digeorge syndrome	19521722	CNVD
Autism	19955444	CNVD
Schizophrenia	19955444	CNVD
Mental retardation	17124404	CNVD
Tourette syndrome	20069037	CNVD
Williams-beuren syndrome	18553513	CNVD
Emphysema	19352772	CNVD
Schizophrenia	17160897	CNVD
Cancer	17160897	CNVD
Neuropsychiatric disorder	20069037	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
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
22q11.2 deletion syndrome	22563040	CNVD
Disease	21346257	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Developmental delay	21147756	CNVD
Type 2 diabetes	21526130	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Neuroblastoma	18923191	CNVD
Prader-willi syndrome	20588305	CNVD
T-cell acute lymphoblastic leukemia	21980252	CNVD
22q11.22 microdeletion syndrome	19193630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cognitive impairment	21505072	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Asthma	21956041	CNVD
Colorectal cancer	21128281	CNVD
Systemic lupus erythematosus	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
22q11.23 microdeletion syndrome	19193630	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Medulloblastoma	21163964	CNVD

Chromatin state (count:1103 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:21607400-21608600	Enhancers	HepG2	liver
2	chr22:21607800-21608200	Enhancers	Fetal Intestine Small	intestine
3	chr22:21607800-21608600	Enhancers	Fetal Intestine Large	intestine
4	chr22:21608400-21608600	Enhancers	HSMMtube	muscle
5	chr22:21608600-21609800	Weak transcription	Fetal Intestine Large	intestine
6	chr22:21608600-21609800	Weak transcription	HepG2	liver
7	chr22:21608600-21610400	Weak transcription	HSMMtube	muscle
8	chr22:21609800-21610200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr22:21609800-21610600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr22:21609800-21610600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr22:21609800-21610600	Enhancers	Hela-S3	cervix
12	chr22:21609800-21611400	Enhancers	HepG2	liver
13	chr22:21610000-21610200	Enhancers	Fetal Intestine Large	intestine
14	chr22:21610400-21611400	Enhancers	HSMMtube	muscle
15	chr22:21610400-21611600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr22:21649000-21649400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr22:21649200-21649800	Enhancers	K562	blood
18	chr22:21714800-21715000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
19	chr22:21718200-21718400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
20	chr22:21722400-21724800	Weak transcription	Right Atrium	heart
21	chr22:21756400-21756600	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr22:21756400-21757200	Enhancers	K562	blood
23	chr22:21756400-21757400	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr22:21756400-21757400	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr22:21756400-21757600	Active TSS	HepG2	liver
26	chr22:21757200-21757400	Flanking Active TSS	K562	blood
27	chr22:21757400-21757800	Enhancers	K562	blood
28	chr22:21757600-21757800	Flanking Active TSS	HepG2	liver
29	chr22:21757600-21758000	Enhancers	Fetal Intestine Large	intestine
30	chr22:21770400-21770600	Enhancers	K562	blood
31	chr22:21770600-21770800	Enhancers	Primary T cells fromperipheralblood	blood
32	chr22:21770600-21771000	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr22:21770600-21771000	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr22:21770600-21771000	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr22:21770600-21771000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr22:21770600-21771000	Active TSS	HepG2	liver
37	chr22:21770600-21771000	Flanking Active TSS	K562	blood
38	chr22:21770600-21772400	Active TSS	H1 Cell Line	embryonic stem cell
39	chr22:21770800-21771000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr22:21770800-21771000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr22:21770800-21771000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr22:21770800-21771000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr22:21770800-21771000	Enhancers	Adipose Nuclei	Adipose
44	chr22:21770800-21771000	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr22:21770800-21772200	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr22:21771000-21771600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr22:21771000-21772000	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr22:21771000-21772000	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr22:21771000-21772000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr22:21771000-21772000	Weak transcription	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links