Variant report

Variant	esv1808756
Chromosome Location	chr22:21713011-21913726
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3845)
CpG islands
(count:1894)
Chromatin interactive
region (count:23)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:3845 , 50 per page) page: 1 2 3 4 5 6 7 ... 77

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:21910246-21910718	K562	blood:	n/a	n/a
2	ARID3A	chr22:21811453-21812088	HepG2	liver:	n/a	n/a
3	ARID3A	chr22:21910418-21910628	HepG2	liver:	n/a	n/a
4	ATF1	chr22:21910267-21910662	K562	blood:	n/a	n/a
5	ATF1	chr22:21822456-21822596	K562	blood:	n/a	n/a
6	ATF3	chr22:21910162-21910876	K562	blood:	n/a	n/a
7	ATF3	chr22:21910129-21910721	K562	blood:	n/a	n/a
8	ATF3	chr22:21799163-21799497	K562	blood:	n/a	n/a
9	ATF3	chr22:21866127-21866289	K562	blood:	n/a	n/a
10	BACH1	chr22:21910262-21910699	K562	blood:	n/a	n/a
11	BACH1	chr22:21810600-21810850	H1-hESC	embryonic stem cell:	n/a	n/a
12	BATF	chr22:21888942-21889159	GM12878	blood:	n/a	n/a
13	BATF	chr22:21754245-21754462	GM12878	blood:	n/a	n/a
14	BATF	chr22:21822965-21823191	GM12878	blood:	n/a	n/a
15	BATF	chr22:21822372-21822581	GM12878	blood:	n/a	n/a
16	BATF	chr22:21771592-21771785	GM12878	blood:	n/a	n/a
17	BATF	chr22:21871643-21871836	GM12878	blood:	n/a	n/a
18	BATF	chr22:21738444-21738711	GM12878	blood:	n/a	n/a
19	BCL11A	chr22:21774746-21775018	GM12878	blood:	n/a	n/a
20	BCL11A	chr22:21904654-21904960	GM12878	blood:	n/a	n/a
21	BCL11A	chr22:21868416-21868688	GM12878	blood:	n/a	n/a
22	BCL11A	chr22:21738418-21738724	GM12878	blood:	n/a	n/a
23	BCL11A	chr22:21754133-21754406	GM12878	blood:	n/a	n/a
24	BCL11A	chr22:21888998-21889271	GM12878	blood:	n/a	n/a
25	BCL3	chr22:21801993-21802294	GM12878	blood:	n/a	n/a
26	BCL3	chr22:21805322-21806524	K562	blood:	n/a	n/a
27	BCL3	chr22:21910210-21910678	A549	lung:	n/a	n/a
28	BCL3	chr22:21805261-21805733	K562	blood:	n/a	n/a
29	BCL3	chr22:21811292-21811869	A549	lung:	n/a	n/a
30	BCL3	chr22:21801935-21802305	GM12878	blood:	n/a	n/a
31	BHLHE40	chr22:21762165-21762560	HepG2	liver:	n/a	n/a
32	BHLHE40	chr22:21910291-21910722	K562	blood:	n/a	n/a
33	BHLHE40	chr22:21880932-21881265	HepG2	liver:	n/a	n/a
34	BHLHE40	chr22:21864628-21865020	HepG2	liver:	n/a	chr22:21864696-21864712
35	BHLHE40	chr22:21904568-21904918	HepG2	liver:	n/a	n/a
36	BHLHE40	chr22:21872293-21872552	HepG2	liver:	n/a	n/a
37	BHLHE40	chr22:21754096-21754382	HepG2	liver:	n/a	n/a
38	BHLHE40	chr22:21770879-21771138	HepG2	liver:	n/a	n/a
39	BHLHE40	chr22:21811288-21811938	HepG2	liver:	n/a	n/a
40	BHLHE40	chr22:21738460-21738810	HepG2	liver:	n/a	n/a
41	BHLHE40	chr22:21778413-21778813	HepG2	liver:	n/a	chr22:21778756-21778772
42	BHLHE40	chr22:21822115-21822324	HepG2	liver:	n/a	n/a
43	BHLHE40	chr22:21811661-21811706	K562	blood:	n/a	n/a
44	BHLHE40	chr22:21802435-21802617	K562	blood:	n/a	n/a
45	BHLHE40	chr22:21889022-21889308	HepG2	liver:	n/a	n/a
46	BRCA1	chr22:21811623-21811821	HepG2	liver:	n/a	n/a
47	CBX3	chr22:21888819-21889586	K562	blood:	n/a	n/a
48	CBX3	chr22:21756412-21757906	K562	blood:	n/a	n/a
49	CBX3	chr22:21778155-21779161	K562	blood:	n/a	n/a
50	CBX3	chr22:21821351-21823531	K562	blood:	n/a	n/a

(count:1894 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:21800832-21800882	NB4	blood:	n/a
2	chr22:21802598-21802648	BE2_C	brain:	n/a
3	chr22:21817930-21817980	H1-hESC	embryonic stem cell:	embryo
4	chr22:21800832-21800882	NB4	blood:	n/a
5	chr22:21802598-21802648	BE2_C	brain:	n/a
6	chr22:21817930-21817980	H1-hESC	embryonic stem cell:	embryo
7	chr22:21804711-21804761	CMK	blood:	n/a
8	chr22:21821976-21822026	HCPEpiC	choroid plexus:	n/a
9	chr22:21801764-21801814	SK-N-SH	brain:	n/a
10	chr22:21800988-21801038	Hepatocyte	liver:	n/a
11	chr22:21867049-21867099	NB4	blood:	n/a
12	chr22:21801764-21801814	GM12891	blood:	n/a
13	chr22:21871920-21871970	U87	brain:	n/a
14	chr22:21714051-21714101	BJ	skin:	n/a
15	chr22:21823579-21823629	HCPEpiC	choroid plexus:	n/a
16	chr22:21821976-21822026	AG10803	skin:	n/a
17	chr22:21820215-21820265	HCF	heart:	n/a
18	chr22:21770821-21770871	HAEpiC	amniotic membrane:	n/a
19	chr22:21715770-21715820	Caco-2	colon:	n/a
20	chr22:21823579-21823629	GM12878	blood:	n/a
21	chr22:21798794-21798844	HRCEpiC	kidney:	n/a
22	chr22:21714908-21714958	GM12892	blood:	n/a
23	chr22:21714908-21714958	ovcar-3	ovarian:	n/a
24	chr22:21718166-21718216	PFSK-1	brain:	n/a
25	chr22:21714051-21714101	HRCEpiC	kidney:	n/a
26	chr22:21823579-21823629	PrEC	prostate:	n/a
27	chr22:21871920-21871970	AG04449	skin:	fetal
28	chr22:21871914-21871964	SK-N-SH	brain:	n/a
29	chr22:21871920-21871970	H1-hESC	embryonic stem cell:	embryo
30	chr22:21770821-21770871	BJ	skin:	n/a
31	chr22:21770821-21770871	Jurkat	blood:	n/a
32	chr22:21770821-21770871	HRE	kidney:	n/a
33	chr22:21771551-21771601	SK-N-SH	brain:	n/a
34	chr22:21801764-21801814	ovcar-3	ovarian:	n/a
35	chr22:21715770-21715820	HCM	heart:	n/a
36	chr22:21735028-21735078	AG04449	skin:	fetal
37	chr22:21774669-21774719	T-47D	breast:	n/a
38	chr22:21770821-21770871	HPAEpiC	pulmonary alveolar:	n/a
39	chr22:21771551-21771601	NH-A	brain:	n/a
40	chr22:21802598-21802648	NT2-D1	testis:	n/a
41	chr22:21770821-21770871	AoSMC	blood vessel:	n/a
42	chr22:21820215-21820265	AG09319	gingival:	n/a
43	chr22:21802598-21802648	HIPEpiC	eye:	n/a
44	chr22:21822289-21822339	SK-N-SH	brain:	n/a
45	chr22:21867049-21867099	AG09309	skin:	n/a
46	chr22:21773494-21773544	K562	blood:	n/a
47	chr22:21822289-21822339	RPTEC	kidney:	n/a
48	chr22:21774669-21774719	SKMC	muscle:	n/a
49	chr22:21770855-21770905	AG10803	skin:	n/a
50	chr22:21821976-21822026	HPAEpiC	pulmonary alveolar:	n/a

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:21910454..21912029-chr22:22004763..22007007,2	MCF-7	breast:
2	chr22:21771959..21773481-chr22:21799015..21800950,2	K562	blood:
3	chr22:21807608..21809744-chr22:21982806..21985295,2	K562	blood:
4	chr22:21810804..21813538-chr22:21813549..21815062,2	K562	blood:
5	chr22:21801167..21803147-chr22:21981640..21983614,2	K562	blood:
6	chr22:21910278..21913507-chr22:21994549..21997856,3	K562	blood:
7	chr22:21821085..21824065-chr22:21983565..21985249,2	K562	blood:
8	chr22:21910242..21911830-chr22:21925513..21928236,2	K562	blood:
9	chr22:21771959..21773481-chr22:21799015..21800950,2	K562	blood:
10	chr22:21757262..21759399-chr22:21922328..21924805,2	K562	blood:
11	chr22:21800442..21802407-chr22:21977326..21979370,2	K562	blood:
12	chr22:21801362..21804188-chr22:22036295..22038184,2	K562	blood:
13	chr22:21799835..21803948-chr22:22005820..22007869,4	K562	blood:
14	chr22:21810804..21813538-chr22:21813549..21815062,2	K562	blood:
15	chr22:21808392..21810710-chr22:21921341..21923915,2	K562	blood:
16	chr22:21805758..21807437-chr22:21977909..21980793,2	K562	blood:
17	chr22:21799659..21804135-chr22:21977326..21984068,6	K562	blood:
18	chr22:21802884..21804534-chr22:21977171..21979118,2	K562	blood:
19	chr22:21802032..21802554-chr22:22000750..22001398,2	K562	blood:
20	chr22:21908736..21910357-chr22:21980107..21982427,2	K562	blood:
21	chr22:21804862..21806367-chr22:21977646..21980199,2	K562	blood:
22	chr12:89917592..89920413-chr22:21802852..21804467,2	MCF-7	breast:
23	chr22:21821074..21822903-chr22:21982952..21985553,3	K562	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RIMBP3C-2	chr22:21868423-21868512	NONHSAT083686
2	lnc-RIMBP3B-1	chr22:21743480-21743780	NONHSAT083665
3	lnc-RIMBP3B-2	chr22:21725711-21725760	l_2251_chr22:21725710-21727925_testes
4	lnc-RIMBP3C-3	chr22:21803801-21805329	NONHSAT083673
5	lnc-RIMBP3B-2	chr22:21726368-21726939	l_2251_chr22:21725710-21727925_testes
6	lnc-HIC2-1	chr22:21820783-21821265	ENSG00000206140
7	lnc-RIMBP3C-2	chr22:21846265-21846383	NONHSAT083686
8	lnc-RIMBP3B-2	chr22:21727743-21727925	l_2251_chr22:21725710-21727925_testes
9	lnc-RIMBP3C-1	chr22:21899633-21899933	NONHSAT083690

No data

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

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

Variant related genes	Relation type
ENSG00000252020	TF binding region
RN7SKP221	TF binding region
ENSG00000226534	TF binding region
ENSG00000252799	TF binding region
RN7SKP63	TF binding region
ENSG00000252402	TF binding region
UBE2L3	TF binding region
ENSG00000252143	TF binding region
TMEM191C	TF binding region
ENSG00000252314	TF binding region
ENSG00000252605	TF binding region
RIMBP3B	TF binding region
RIMBP3C	TF binding region
HIC2	TF binding region
PI4KAP2	TF binding region
ENSG00000252020	CpG island
RN7SKP221	CpG island
ENSG00000226534	CpG island
ENSG00000252799	CpG island
RN7SKP63	CpG island
ENSG00000252402	CpG island
UBE2L3	CpG island
ENSG00000252143	CpG island
TMEM191C	CpG island
ENSG00000252314	CpG island
ENSG00000252605	CpG island
RIMBP3B	CpG island
RIMBP3C	CpG island
HIC2	CpG island
PI4KAP2	CpG island
ENSG00000100023	chromatin interactions
ENSG00000212102	chromatin interactions
ENSG00000139323	chromatin interactions
ENSG00000257594	chromatin interactions
ENSG00000128228	chromatin interactions
ENSG00000207751	chromatin interactions
ENSG00000259075	chromatin interactions
ENSG00000185651	chromatin interactions
ENSG00000161179	chromatin interactions
ENSG00000270344	chromatin interactions
ENSG00000273342	chromatin interactions

Extended variants
information (count: 2028 )
Associated
traits (count: 233 )

Variant overlapped rSNPs/rCNVs (count:2028 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576877111	chr22:21718213-21718214	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs545829712	chr22:21718230-21718231	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs529831057	chr22:21718238-21718239	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs9621231	chr22:21718239-21718240	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs145543312	chr22:21718245-21718246	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs532462217	chr22:21718250-21718251	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs62237266	chr22:21718261-21718262	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs62237267	chr22:21718264-21718265	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs551853074	chr22:21718280-21718281	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs62237268	chr22:21718284-21718285	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs202039587	chr22:21718289-21718290	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs561882659	chr22:21718290-21718291	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs527488194	chr22:21718300-21718301	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs540899566	chr22:21718304-21718305	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs377510440	chr22:21718307-21718308	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs201244685	chr22:21718334-21718335	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs532359730	chr22:21718335-21718336	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs364121	chr22:21718360-21718361	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs556169508	chr22:21719933-21719934	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs555192959	chr22:21720104-21720105	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs571875415	chr22:21720221-21720222	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs191342165	chr22:21720265-21720266	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs148510491	chr22:21720272-21720273	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs564020808	chr22:21720276-21720277	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs533105534	chr22:21720279-21720280	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs545870235	chr22:21720281-21720282	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs568194579	chr22:21720293-21720294	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs531610550	chr22:21720319-21720320	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs200917077	chr22:21720320-21720321	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs364098	chr22:21720452-21720453	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs5997667	chr22:21720516-21720517	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs527869582	chr22:21720548-21720549	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs548038547	chr22:21720588-21720589	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs201472806	chr22:21720633-21720634	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs540174624	chr22:21720668-21720669	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs550212322	chr22:21720684-21720685	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs2909306	chr22:21720691-21720692	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs569606492	chr22:21720694-21720695	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs535121534	chr22:21720699-21720700	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs555426064	chr22:21720716-21720717	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs5997669	chr22:21720728-21720729	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs571840486	chr22:21720738-21720739	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs3016123	chr22:21720750-21720751	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs565430308	chr22:21722507-21722508	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs72617216	chr22:21722525-21722526	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs556235621	chr22:21722536-21722537	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs577387319	chr22:21722537-21722538	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs536866772	chr22:21722548-21722549	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs557202981	chr22:21722550-21722551	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs72617217	chr22:21722564-21722565	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	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
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
Gastrointestinal stromal cancer	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	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
Glioma	20126413	CNVD

Chromatin state (count:1157 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:21714800-21715000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
2	chr22:21718200-21718400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
3	chr22:21722400-21724800	Weak transcription	Right Atrium	heart
4	chr22:21756400-21756600	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr22:21756400-21757200	Enhancers	K562	blood
6	chr22:21756400-21757400	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr22:21756400-21757400	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr22:21756400-21757600	Active TSS	HepG2	liver
9	chr22:21757200-21757400	Flanking Active TSS	K562	blood
10	chr22:21757400-21757800	Enhancers	K562	blood
11	chr22:21757600-21757800	Flanking Active TSS	HepG2	liver
12	chr22:21757600-21758000	Enhancers	Fetal Intestine Large	intestine
13	chr22:21770400-21770600	Enhancers	K562	blood
14	chr22:21770600-21770800	Enhancers	Primary T cells fromperipheralblood	blood
15	chr22:21770600-21771000	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr22:21770600-21771000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr22:21770600-21771000	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr22:21770600-21771000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr22:21770600-21771000	Active TSS	HepG2	liver
20	chr22:21770600-21771000	Flanking Active TSS	K562	blood
21	chr22:21770600-21772400	Active TSS	H1 Cell Line	embryonic stem cell
22	chr22:21770800-21771000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr22:21770800-21771000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr22:21770800-21771000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr22:21770800-21771000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr22:21770800-21771000	Enhancers	Adipose Nuclei	Adipose
27	chr22:21770800-21771000	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr22:21770800-21772200	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr22:21771000-21771600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr22:21771000-21772000	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr22:21771000-21772000	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr22:21771000-21772000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr22:21771000-21772000	Weak transcription	K562	blood
34	chr22:21771000-21772000	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr22:21771000-21772200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr22:21771000-21773200	Weak transcription	HepG2	liver
37	chr22:21771600-21772000	Active TSS	Sigmoid Colon	Sigmoid Colon
38	chr22:21771600-21772200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr22:21771600-21772200	Active TSS	Gastric	stomach
40	chr22:21771600-21772400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr22:21771600-21772400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr22:21771600-21772400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr22:21771600-21772400	Active TSS	H9 Cell Line	embryonic stem cell
44	chr22:21771600-21772400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr22:21771600-21772400	Active TSS	Cortex derived primary cultured neurospheres	brain
46	chr22:21771600-21772400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr22:21771600-21772400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr22:21771600-21772400	Active TSS	Aorta	Aorta
49	chr22:21771600-21772400	Active TSS	Esophagus	oesophagus
50	chr22:21771600-21772400	Active TSS	Pancreatic Islets	Pancreatic Islet

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links