Variant report

Variant	nsv519901
Chromosome Location	chr22:20737903-20783721
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1310)
CpG islands
(count:1712)
Chromatin interactive
region (count:100)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1310 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:20772477-20772777	K562	blood:	n/a	n/a
2	ARID3A	chr22:20772480-20772950	HepG2	liver:	n/a	n/a
3	ARID3A	chr22:20748054-20748615	K562	blood:	n/a	n/a
4	ATF1	chr22:20750467-20750931	K562	blood:	n/a	n/a
5	ATF1	chr22:20748058-20748612	K562	blood:	n/a	n/a
6	ATF1	chr22:20763891-20763896	K562	blood:	n/a	n/a
7	ATF3	chr22:20783221-20784395	K562	blood:	n/a	chr22:20784265-20784274 chr22:20784361-20784370
8	ATF3	chr22:20747364-20749005	K562	blood:	n/a	chr22:20747478-20747487 chr22:20747801-20747812 chr22:20747799-20747812
9	ATF3	chr22:20772319-20773064	K562	blood:	n/a	n/a
10	BACH1	chr22:20772462-20772775	K562	blood:	n/a	n/a
11	BACH1	chr22:20766986-20767182	K562	blood:	n/a	n/a
12	BACH1	chr22:20772513-20772901	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr22:20743575-20743699	K562	blood:	n/a	n/a
14	BACH1	chr22:20748972-20749028	K562	blood:	n/a	n/a
15	BACH1	chr22:20747992-20749049	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr22:20778561-20778677	K562	blood:	n/a	n/a
17	BACH1	chr22:20747788-20748629	K562	blood:	n/a	n/a
18	BATF	chr22:20763760-20764081	GM12878	blood:	n/a	chr22:20763915-20763926
19	BATF	chr22:20743184-20743435	GM12878	blood:	n/a	n/a
20	BATF	chr22:20750882-20751250	GM12878	blood:	n/a	n/a
21	BATF	chr22:20763819-20764036	GM12878	blood:	n/a	chr22:20763915-20763926
22	BATF	chr22:20750931-20751179	GM12878	blood:	n/a	n/a
23	BCLAF1	chr22:20748071-20748673	GM12878	blood:	n/a	chr22:20748439-20748452
24	BHLHE40	chr22:20772527-20772822	A549	lung:	n/a	n/a
25	BHLHE40	chr22:20776365-20776536	K562	blood:	n/a	n/a
26	BHLHE40	chr22:20772438-20772971	K562	blood:	n/a	n/a
27	BHLHE40	chr22:20747794-20748735	GM12878	blood:	n/a	chr22:20748444-20748460 chr22:20748262-20748278
28	BHLHE40	chr22:20772412-20772882	GM12878	blood:	n/a	n/a
29	BHLHE40	chr22:20775114-20775468	K562	blood:	n/a	n/a
30	BHLHE40	chr22:20783381-20784609	K562	blood:	n/a	n/a
31	BHLHE40	chr22:20783493-20783538	GM12878	blood:	n/a	n/a
32	BHLHE40	chr22:20766647-20767277	K562	blood:	n/a	n/a
33	BHLHE40	chr22:20748037-20749013	K562	blood:	n/a	chr22:20748444-20748460 chr22:20748262-20748278
34	BHLHE40	chr22:20772492-20772889	HepG2	liver:	n/a	n/a
35	BRCA1	chr22:20772436-20772717	Hela-S3	cervix:	n/a	n/a
36	BRCA1	chr22:20748116-20748496	Hela-S3	cervix:	n/a	n/a
37	BRCA1	chr22:20748527-20748616	GM12878	blood:	n/a	n/a
38	BRCA1	chr22:20747804-20747814	GM12878	blood:	n/a	n/a
39	BRCA1	chr22:20772446-20772784	H1-hESC	embryonic stem cell:	n/a	n/a
40	CBX3	chr22:20766170-20767438	K562	blood:	n/a	n/a
41	CBX3	chr22:20783160-20785471	K562	blood:	n/a	n/a
42	CBX3	chr22:20772372-20773026	K562	blood:	n/a	n/a
43	CBX3	chr22:20747221-20749201	K562	blood:	n/a	n/a
44	CBX3	chr22:20779097-20779707	K562	blood:	n/a	n/a
45	CBX3	chr22:20747494-20749265	K562	blood:	n/a	n/a
46	CBX3	chr22:20772277-20773152	K562	blood:	n/a	n/a
47	CCNT2	chr22:20748133-20748913	K562	blood:	n/a	n/a
48	CCNT2	chr22:20772506-20773043	K562	blood:	n/a	n/a
49	CCNT2	chr22:20783587-20784042	K562	blood:	n/a	chr22:20783711-20783720
50	CCNT2	chr22:20747884-20747900	K562	blood:	n/a	n/a

(count:1712 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:20760922-20760972	HIPEpiC	eye:	n/a
2	chr22:20779896-20779946	HNPCEpiC	eye:	n/a
3	chr22:20762620-20762670	SK-N-SH	brain:	n/a
4	chr22:20779482-20779532	HL-60	blood:	n/a
5	chr22:20760922-20760972	HIPEpiC	eye:	n/a
6	chr22:20779896-20779946	HNPCEpiC	eye:	n/a
7	chr22:20762620-20762670	SK-N-SH	brain:	n/a
8	chr22:20779482-20779532	HL-60	blood:	n/a
9	chr22:20780508-20780558	MCF-7	breast:	n/a
10	chr22:20747254-20747304	Hela-S3	cervix:	n/a
11	chr22:20760090-20760140	AG09319	gingival:	n/a
12	chr22:20748432-20748482	HRPEpiC	eye:	n/a
13	chr22:20760090-20760140	HAEpiC	amniotic membrane:	n/a
14	chr22:20748445-20748495	H1-hESC	embryonic stem cell:	embryo
15	chr22:20748269-20748319	T-47D	breast:	n/a
16	chr22:20760502-20760552	HMEC	breast:	n/a
17	chr22:20780298-20780348	HRE	kidney:	n/a
18	chr22:20776864-20776914	BE2_C	brain:	n/a
19	chr22:20780508-20780558	HCPEpiC	choroid plexus:	n/a
20	chr22:20779482-20779532	SKMC	muscle:	n/a
21	chr22:20747254-20747304	PrEC	prostate:	n/a
22	chr22:20779896-20779946	ProgFib	skin:	n/a
23	chr22:20779482-20779532	U87	brain:	n/a
24	chr22:20745587-20745637	HRPEpiC	eye:	n/a
25	chr22:20748810-20748860	PANC-1	pancreas:	n/a
26	chr22:20745587-20745637	MCF10A-Er-Src	breast:	n/a
27	chr22:20748810-20748860	Hela-S3	cervix:	n/a
28	chr22:20748432-20748482	HNPCEpiC	eye:	n/a
29	chr22:20758901-20758951	NHDF-neo	bronchial:	n/a
30	chr22:20783497-20783547	PANC-1	pancreas:	n/a
31	chr22:20779482-20779532	IMR90	lung:	fetal
32	chr22:20748430-20748480	MCF-7	breast:	n/a
33	chr22:20760090-20760140	HEK293	kidney:	embryo
34	chr22:20747254-20747304	T-47D	breast:	n/a
35	chr22:20748432-20748482	HCM	heart:	n/a
36	chr22:20764816-20764866	PFSK-1	brain:	n/a
37	chr22:20748269-20748319	Hepatocyte	liver:	n/a
38	chr22:20780508-20780558	NHDF-neo	bronchial:	n/a
39	chr22:20760206-20760256	HCM	heart:	n/a
40	chr22:20748909-20748959	PrEC	prostate:	n/a
41	chr22:20762620-20762670	HRCEpiC	kidney:	n/a
42	chr22:20748430-20748480	GM12892	blood:	n/a
43	chr22:20748341-20748391	GM12878	blood:	n/a
44	chr22:20748445-20748495	U87	brain:	n/a
45	chr22:20748445-20748495	PFSK-1	brain:	n/a
46	chr22:20748341-20748391	AG10803	skin:	n/a
47	chr22:20776864-20776914	HCT-116	colon:	n/a
48	chr22:20780298-20780348	NHBE	bronchial:	n/a
49	chr22:20760090-20760140	IMR90	lung:	fetal
50	chr22:20776864-20776914	AG09319	gingival:	n/a

(count:100 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr22:20748529..20750261-chr22:20773050..20776564,4	K562	blood:
2	chr22:20772349..20772857-chr22:31151086..31151590,2	K562	blood:
3	chr22:20746895..20749975-chr22:20779281..20780825,3	K562	blood:
4	chr22:20746710..20750506-chr22:20848271..20851400,6	K562	blood:
5	chr22:20767434..20769140-chr22:20810675..20812193,2	K562	blood:
6	chr22:20748074..20749074-chr8:145159437..145160304,2	HCT-116	colon:
7	chr22:20305880..20308844-chr22:20746915..20751265,6	K562	blood:
8	chr22:20747603..20749135-chr22:20877322..20878891,2	K562	blood:
9	chr22:20307048..20310723-chr22:20752794..20755955,4	K562	blood:
10	chr22:20777062..20779778-chr22:20794653..20797294,3	K562	blood:
11	chr22:20759513..20761036-chr22:20764449..20766254,2	K562	blood:
12	chr22:20772142..20773325-chr22:21138294..21139177,3	K562	blood:
13	chr22:20772083..20773030-chr22:21051919..21052745,4	K562	blood:
14	chr22:20750300..20752010-chr22:20783990..20786331,3	K562	blood:
15	chr22:20747658..20750971-chr22:20791257..20794328,4	K562	blood:
16	chr22:20190087..20192901-chr22:20746494..20748889,2	K562	blood:
17	chr22:20772166..20773234-chr22:20925542..20926325,4	K562	blood:
18	chr22:20747192..20751120-chr22:20789736..20796379,8	K562	blood:
19	chr22:20759981..20762513-chr22:20848447..20851015,2	K562	blood:
20	chr22:20745421..20750259-chr22:20781607..20786254,5	K562	blood:
21	chr22:20750386..20752653-chr22:20772651..20774166,2	K562	blood:
22	chr22:20772602..20773123-chr22:20805709..20806536,2	K562	blood:
23	chr22:20781842..20784982-chr22:20798949..20802436,4	K562	blood:
24	chr22:20762812..20764963-chr22:20777367..20778882,2	MCF-7	breast:
25	chr22:20747002..20751315-chr22:20752903..20758331,10	MCF-7	breast:
26	chr22:20777592..20779783-chr22:20783433..20786205,3	MCF-7	breast:
27	chr22:20120364..20123230-chr22:20780461..20782763,2	K562	blood:
28	chr22:20757925..20759631-chr22:20829172..20830808,2	K562	blood:
29	chr22:20756285..20758093-chr22:20779456..20782036,2	K562	blood:
30	chr22:20746710..20748813-chr22:20848271..20851288,3	K562	blood:
31	chr22:20735819..20738394-chr22:20739317..20742032,2	K562	blood:
32	chr22:20773616..20775406-chr22:20932709..20934997,2	K562	blood:
33	chr22:20759513..20761036-chr22:20764449..20766254,2	K562	blood:
34	chr22:20745876..20748666-chr22:21132002..21134652,3	K562	blood:
35	chr22:20762812..20764963-chr22:20777367..20778882,2	MCF-7	breast:
36	chr22:20783526..20786836-chr22:20848696..20851807,5	MCF-7	breast:
37	chr22:20782547..20785284-chr22:20848903..20851402,3	K562	blood:
38	chr22:20771930..20775784-chr22:20809121..20811896,66	K562	blood:
39	chr22:20726809..20729682-chr22:20738180..20739849,2	K562	blood:
40	chr22:20757186..20759294-chr22:20763016..20765547,3	MCF-7	breast:
41	chr22:20772586..20776036-chr22:20810176..20812290,3	K562	blood:
42	chr22:20747603..20752058-chr22:20875034..20878891,5	K562	blood:
43	chr22:20772162..20773113-chr22:20810212..20811108,4	MCF-7	breast:
44	chr22:20304862..20305860-chr22:20772145..20772996,2	K562	blood:
45	chr22:20773848..20776010-chr22:20838128..20840600,2	K562	blood:
46	chr22:20747868..20750073-chr22:20782291..20786147,3	K562	blood:
47	chr22:20744625..20746451-chr22:20748310..20750058,3	MCF-7	breast:
48	chr22:20734100..20735721-chr22:20739123..20741298,2	K562	blood:
49	chr22:20776406..20778552-chr22:20848750..20852564,4	K562	blood:
50	chr22:20775056..20776864-chr22:20819344..20821871,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SCARF2-1	chr22:20775874-20776254	NONHSAT083538

No data

Variant related genes	Relation type
ZNF74	TF binding region
USP41	TF binding region
RNU6-225P	TF binding region
ZNF74	CpG island
USP41	CpG island
RNU6-225P	CpG island
ENSG00000099910	chromatin interactions
ENSG00000249923	chromatin interactions
ENSG00000099917	chromatin interactions
ENSG00000099901	chromatin interactions
ENSG00000128185	chromatin interactions
ENSG00000236003	chromatin interactions
ENSG00000215493	chromatin interactions
ENSG00000161132	chromatin interactions
ENSG00000273343	chromatin interactions
ENSG00000179632	chromatin interactions
ENSG00000273139	chromatin interactions
ENSG00000099899	chromatin interactions
ENSG00000244486	chromatin interactions
ENSG00000161133	chromatin interactions
ENSG00000255156	chromatin interactions
ENSG00000236670	chromatin interactions
ENSG00000185252	chromatin interactions
ENSG00000099937	chromatin interactions

Extended variants
information (count: 2001 )
Associated
traits (count: 230 )

Variant overlapped rSNPs/rCNVs (count:2001 , 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	rs9609699	chr22:20737903-20737904	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs78498696	chr22:20737915-20737916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190623020	chr22:20737917-20737918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546328340	chr22:20737919-20737920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181926824	chr22:20737931-20737932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185725125	chr22:20737994-20737995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548305218	chr22:20738041-20738042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs567193552	chr22:20738060-20738061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188806629	chr22:20738119-20738120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs546345513	chr22:20738132-20738133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs566369770	chr22:20738142-20738143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113077323	chr22:20738145-20738146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538351801	chr22:20738160-20738161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543495463	chr22:20738162-20738163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143096273	chr22:20738169-20738170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537821273	chr22:20738221-20738222	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs554273253	chr22:20738250-20738251	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs575145782	chr22:20738259-20738260	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs540969349	chr22:20738284-20738285	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs563368916	chr22:20738285-20738286	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs148213905	chr22:20738313-20738314	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs181611376	chr22:20738314-20738315	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs577544819	chr22:20738316-20738317	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs141174302	chr22:20738322-20738323	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs562969020	chr22:20738410-20738411	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs185385196	chr22:20738429-20738430	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs113492390	chr22:20738471-20738472	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs150716048	chr22:20738496-20738497	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs529926096	chr22:20738497-20738498	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs529267932	chr22:20738521-20738522	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs139411425	chr22:20738548-20738549	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs112741447	chr22:20738577-20738578	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs115403294	chr22:20738589-20738590	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs78418667	chr22:20738603-20738604	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs568887813	chr22:20738612-20738613	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs116389009	chr22:20738640-20738641	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs554596142	chr22:20738671-20738672	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs13055191	chr22:20738689-20738690	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs207477906	chr22:20738759-20738760	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs13055393	chr22:20738790-20738791	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs7284707	chr22:20738821-20738822	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs554542818	chr22:20738874-20738875	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs7286096	chr22:20738879-20738880	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs190247818	chr22:20738891-20738892	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs556480184	chr22:20738912-20738913	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs576440182	chr22:20738921-20738922	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs6004150	chr22:20738934-20738935	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs577396315	chr22:20738961-20738962	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs372348957	chr22:20738990-20738991	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs541264209	chr22:20739017-20739018	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:230)

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	22102821	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
Acute lymphoblastic leukemia	20435627	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
cardiac septal defect	19239688	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
Ependymoma	20639864	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
Cancer	20164920	CNVD
Schizophrenia	17989066	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	20967226	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:1945 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:20721600-20743400	Weak transcription	Right Atrium	heart
2	chr22:20740200-20741200	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr22:20740400-20741000	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr22:20740400-20741200	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr22:20741200-20747600	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr22:20743400-20744000	ZNF genes & repeats	Right Atrium	heart
7	chr22:20744000-20747800	Weak transcription	Right Atrium	heart
8	chr22:20744800-20747000	Weak transcription	Spleen	Spleen
9	chr22:20747000-20747800	Enhancers	Spleen	Spleen
10	chr22:20747200-20747400	Enhancers	Dnd41	blood
11	chr22:20747200-20747800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr22:20747400-20747600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr22:20747400-20747600	Enhancers	Primary hematopoietic stem cells	blood
14	chr22:20747400-20747600	Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr22:20747400-20747600	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr22:20747400-20747600	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr22:20747400-20747600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr22:20747400-20747600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr22:20747400-20747600	Enhancers	Brain Cingulate Gyrus	brain
20	chr22:20747400-20747600	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr22:20747400-20747600	Enhancers	Colon Smooth Muscle	Colon
22	chr22:20747400-20747600	Enhancers	Duodenum Mucosa	Duodenum
23	chr22:20747400-20747600	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr22:20747400-20747600	Enhancers	K562	blood
25	chr22:20747400-20747800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
26	chr22:20747400-20747800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr22:20747400-20747800	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr22:20747400-20747800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr22:20747400-20747800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr22:20747400-20747800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr22:20747400-20747800	Enhancers	Fetal Brain Female	brain
32	chr22:20747400-20747800	Enhancers	Fetal Muscle Trunk	muscle
33	chr22:20747400-20747800	Enhancers	Pancreas	Pancrea
34	chr22:20747400-20747800	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr22:20747400-20748000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr22:20747400-20748200	Flanking Active TSS	Dnd41	blood
37	chr22:20747600-20747800	Enhancers	H1 Cell Line	embryonic stem cell
38	chr22:20747600-20747800	Enhancers	H9 Cell Line	embryonic stem cell
39	chr22:20747600-20747800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr22:20747600-20747800	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr22:20747600-20747800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr22:20747600-20747800	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr22:20747600-20747800	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr22:20747600-20747800	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr22:20747600-20747800	Enhancers	Primary B cells from peripheral blood	blood
46	chr22:20747600-20747800	Enhancers	Primary T cells from cord blood	blood
47	chr22:20747600-20747800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr22:20747600-20747800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr22:20747600-20747800	Enhancers	Muscle Satellite Cultured Cells	--
50	chr22:20747600-20747800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links