Variant report

Variant	esv1795495
Chromosome Location	chr22:22131125-22204916
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:854)
CpG islands
(count:61)
Chromatin interactive
region (count:98)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:22180006-22180826	K562	blood:	n/a	n/a
2	ARID3A	chr22:22178529-22178856	K562	blood:	n/a	n/a
3	ARID3A	chr22:22133311-22133943	K562	blood:	n/a	n/a
4	ARID3A	chr22:22145990-22146584	K562	blood:	n/a	n/a
5	ARID3A	chr22:22182554-22182576	K562	blood:	n/a	n/a
6	ARID3A	chr22:22166588-22166892	K562	blood:	n/a	n/a
7	ARID3A	chr22:22170459-22171448	K562	blood:	n/a	n/a
8	ARID3A	chr22:22139014-22139416	K562	blood:	n/a	n/a
9	ARID3A	chr22:22191798-22192251	HepG2	liver:	n/a	n/a
10	ATF1	chr22:22145991-22146444	K562	blood:	n/a	n/a
11	ATF1	chr22:22191528-22191815	K562	blood:	n/a	n/a
12	ATF1	chr22:22170948-22171706	K562	blood:	n/a	n/a
13	ATF1	chr22:22179955-22180205	K562	blood:	n/a	n/a
14	ATF1	chr22:22133275-22133607	K562	blood:	n/a	n/a
15	ATF1	chr22:22183622-22183684	K562	blood:	n/a	n/a
16	ATF1	chr22:22138991-22139420	K562	blood:	n/a	n/a
17	ATF2	chr22:22145729-22146344	GM12878	blood:	n/a	n/a
18	ATF2	chr22:22145766-22146300	GM12878	blood:	n/a	n/a
19	ATF3	chr22:22145611-22146769	K562	blood:	n/a	n/a
20	ATF3	chr22:22139044-22139453	K562	blood:	n/a	n/a
21	ATF3	chr22:22138832-22139553	K562	blood:	n/a	n/a
22	BACH1	chr22:22156295-22156722	K562	blood:	n/a	n/a
23	BATF	chr22:22170841-22171249	GM12878	blood:	n/a	chr22:22171050-22171061
24	BATF	chr22:22145815-22146329	GM12878	blood:	n/a	n/a
25	BATF	chr22:22145839-22146354	GM12878	blood:	n/a	n/a
26	BCL11A	chr22:22145904-22146323	GM12878	blood:	n/a	n/a
27	BCL3	chr22:22130435-22131880	K562	blood:	n/a	chr22:22131492-22131501
28	BCL3	chr22:22145969-22146261	GM12878	blood:	n/a	n/a
29	BCL3	chr22:22145935-22146363	GM12878	blood:	n/a	n/a
30	BCLAF1	chr22:22145846-22146323	GM12878	blood:	n/a	n/a
31	BHLHE40	chr22:22178578-22178607	K562	blood:	n/a	n/a
32	BHLHE40	chr22:22191893-22192142	HepG2	liver:	n/a	n/a
33	BHLHE40	chr22:22133115-22133588	K562	blood:	n/a	n/a
34	BHLHE40	chr22:22145915-22146387	GM12878	blood:	n/a	n/a
35	BHLHE40	chr22:22171388-22171726	GM12878	blood:	n/a	n/a
36	BHLHE40	chr22:22145984-22146558	K562	blood:	n/a	n/a
37	BHLHE40	chr22:22170952-22171823	K562	blood:	n/a	n/a
38	BHLHE40	chr22:22139058-22139293	K562	blood:	n/a	n/a
39	BRCA1	chr22:22156479-22156610	HepG2	liver:	n/a	n/a
40	CCNT2	chr22:22181727-22181888	K562	blood:	n/a	n/a
41	CCNT2	chr22:22180622-22180820	K562	blood:	n/a	n/a
42	CCNT2	chr22:22173744-22173960	K562	blood:	n/a	n/a
43	CCNT2	chr22:22138986-22139380	K562	blood:	n/a	n/a
44	CCNT2	chr22:22182590-22182855	K562	blood:	n/a	n/a
45	CCNT2	chr22:22145913-22146427	K562	blood:	n/a	n/a
46	CCNT2	chr22:22160587-22160718	K562	blood:	n/a	n/a
47	CCNT2	chr22:22171021-22171232	K562	blood:	n/a	n/a
48	CEBPB	chr22:22168553-22168854	A549	lung:	n/a	chr22:22168704-22168715
49	CEBPB	chr22:22170900-22171449	IMR90	lung:	n/a	n/a
50	CEBPB	chr22:22180566-22180788	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:22197297-22197347	AG09319	gingival:	n/a
2	chr22:22197297-22197347	GM06990	blood:	n/a
3	chr22:22197297-22197347	Hela-S3	cervix:	n/a
4	chr22:22197297-22197347	NB4	blood:	n/a
5	chr22:22197297-22197347	Jurkat	blood:	n/a
6	chr22:22197297-22197347	HRPEpiC	eye:	n/a
7	chr22:22197297-22197347	HCT-116	colon:	n/a
8	chr22:22197297-22197347	GM19239	blood:	n/a
9	chr22:22197297-22197347	H1-hESC	embryonic stem cell:	embryo
10	chr22:22197297-22197347	SK-N-SH	brain:	n/a
11	chr22:22197297-22197347	HEEpiC	esophagus:	n/a
12	chr22:22197297-22197347	NH-A	brain:	n/a
13	chr22:22197297-22197347	HCF	heart:	n/a
14	chr22:22197297-22197347	AG09309	skin:	n/a
15	chr22:22197297-22197347	RPTEC	kidney:	n/a
16	chr22:22197297-22197347	ECC-1	luminal epithelium:	n/a
17	chr22:22197297-22197347	AG04449	skin:	fetal
18	chr22:22197297-22197347	PANC-1	pancreas:	n/a
19	chr22:22197297-22197347	NT2-D1	testis:	n/a
20	chr22:22197297-22197347	SAEC	small airway:	n/a
21	chr22:22197297-22197347	HRE	kidney:	n/a
22	chr22:22197297-22197347	GM12878	blood:	n/a
23	chr22:22197297-22197347	K562	blood:	n/a
24	chr22:22197297-22197347	HepG2	liver:	n/a
25	chr22:22197297-22197347	HL-60	blood:	n/a
26	chr22:22197297-22197347	Caco-2	colon:	n/a
27	chr22:22197297-22197347	U87	brain:	n/a
28	chr22:22197297-22197347	HNPCEpiC	eye:	n/a
29	chr22:22197297-22197347	SK-N-MC	brain:	n/a
30	chr22:22197297-22197347	SK-N-SH_RA	brain:	n/a
31	chr22:22197297-22197347	HUVEC	blood vessel:	n/a
32	chr22:22197297-22197347	GM12891	blood:	n/a
33	chr22:22197297-22197347	ProgFib	skin:	n/a
34	chr22:22197297-22197347	HCPEpiC	choroid plexus:	n/a
35	chr22:22197297-22197347	HIPEpiC	eye:	n/a
36	chr22:22197297-22197347	AoSMC	blood vessel:	n/a
37	chr22:22197297-22197347	ovcar-3	ovarian:	n/a
38	chr22:22197297-22197347	BE2_C	brain:	n/a
39	chr22:22197297-22197347	GM12892	blood:	n/a
40	chr22:22197297-22197347	MCF10A-Er-Src	breast:	n/a
41	chr22:22197297-22197347	NHBE	bronchial:	n/a
42	chr22:22197297-22197347	PFSK-1	brain:	n/a
43	chr22:22197297-22197347	IMR90	lung:	fetal
44	chr22:22197297-22197347	HPAEpiC	pulmonary alveolar:	n/a
45	chr22:22197297-22197347	HRCEpiC	kidney:	n/a
46	chr22:22197297-22197347	LNCaP	prostate:	n/a
47	chr22:22197297-22197347	MCF-7	breast:	n/a
48	chr22:22197297-22197347	HCM	heart:	n/a
49	chr22:22197297-22197347	T-47D	breast:	n/a
50	chr22:22197297-22197347	NHDF-neo	bronchial:	n/a

(count:98 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr22:22108974..22111937-chr22:22177165..22178956,2	K562	blood:
2	chr22:22065544..22067322-chr22:22204712..22206990,2	K562	blood:
3	chr22:22153675..22157233-chr22:22176291..22179467,3	K562	blood:
4	chr22:22052949..22055555-chr22:22138191..22140675,2	K562	blood:
5	chr22:22132180..22135063-chr22:22179852..22181506,2	K562	blood:
6	chr22:22127790..22129989-chr22:22156925..22159029,2	K562	blood:
7	chr22:22178466..22181415-chr22:22220315..22222347,3	MCF-7	breast:
8	chr22:22152952..22155487-chr22:22168423..22169928,2	K562	blood:
9	chr22:22152952..22155487-chr22:22168423..22169928,2	K562	blood:
10	chr22:22139792..22142043-chr22:22150140..22151655,2	K562	blood:
11	chr22:22185084..22188761-chr22:22306127..22308519,4	K562	blood:
12	chr22:22156400..22158214-chr22:22194352..22196591,2	K562	blood:
13	chr22:22144875..22147581-chr22:22151787..22153348,2	K562	blood:
14	chr22:22147987..22150223-chr22:22151783..22153904,3	K562	blood:
15	chr22:22081671..22084644-chr22:22182581..22185976,3	K562	blood:
16	chr22:22203415..22205330-chr22:22291423..22293151,2	K562	blood:
17	chr22:22137496..22139412-chr22:22161128..22163592,2	K562	blood:
18	chr22:22107491..22109673-chr22:22180297..22182742,2	K562	blood:
19	chr22:22131679..22133826-chr22:22219221..22222634,3	K562	blood:
20	chr22:22035151..22037450-chr22:22190171..22191825,2	K562	blood:
21	chr22:22134933..22136529-chr22:22139947..22142320,2	K562	blood:
22	chr22:22094397..22096556-chr22:22202913..22204728,2	K562	blood:
23	chr22:22129393..22132158-chr22:22299862..22301892,2	K562	blood:
24	chr22:22149608..22152271-chr22:22219755..22223079,3	MCF-7	breast:
25	chr22:22180113..22182524-chr22:22292764..22294458,2	K562	blood:
26	chr22:22151621..22154972-chr22:22155046..22156704,4	K562	blood:
27	chr22:22143176..22145767-chr22:22180225..22183030,2	K562	blood:
28	chr22:22138960..22144102-chr22:22144219..22147796,13	K562	blood:
29	chr22:22142387..22144687-chr22:22151492..22154167,2	K562	blood:
30	chr22:22081612..22083911-chr22:22197531..22199059,2	K562	blood:
31	chr22:22138386..22141993-chr22:22291154..22293931,3	K562	blood:
32	chr22:22151929..22155942-chr22:22170786..22174182,4	K562	blood:
33	chr22:22151911..22155713-chr22:22220448..22222974,5	K562	blood:
34	chr22:22195671..22198608-chr22:22219400..22221487,2	MCF-7	breast:
35	chr22:22118830..22121032-chr22:22149078..22151242,2	K562	blood:
36	chr22:22018828..22021785-chr22:22203115..22205660,2	K562	blood:
37	chr22:22156510..22158230-chr22:22219938..22223187,3	K562	blood:
38	chr22:22142387..22144687-chr22:22151492..22154167,2	K562	blood:
39	chr22:22147987..22150223-chr22:22151783..22153904,3	K562	blood:
40	chr22:22133123..22135559-chr22:22203142..22206068,3	K562	blood:
41	chr22:22134933..22136529-chr22:22139947..22142320,2	K562	blood:
42	chr22:22133123..22135559-chr22:22203142..22206068,3	K562	blood:
43	chr22:22162194..22165063-chr22:22219763..22221740,2	MCF-7	breast:
44	chr22:22125989..22128190-chr22:22174019..22176581,2	K562	blood:
45	chr22:22121708..22124390-chr22:22186109..22187874,2	K562	blood:
46	chr22:22143176..22145767-chr22:22180225..22183030,2	K562	blood:
47	chr22:22134116..22136199-chr22:22168473..22171209,2	K562	blood:
48	chr22:22139542..22142043-chr22:22149818..22151655,3	K562	blood:
49	chr22:22151376..22153617-chr22:22220406..22223335,2	MCF-7	breast:
50	chr22:22134116..22136199-chr22:22168473..22171209,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPIL2-5	chr22:22185463-22185789	NONHSAT083721
2	lnc-PPIL2-5	chr22:22184681-22184830	NONHSAT083721

No data

Variant related genes	Relation type
RNA5SP493	TF binding region
RNA5SP493	CpG island
ENSG00000100030	chromatin interactions
ENSG00000200985	chromatin interactions
ENSG00000100027	chromatin interactions
ENSG00000100034	chromatin interactions
ENSG00000100023	chromatin interactions
ENSG00000224086	chromatin interactions

Extended variants
information (count: 3237 )
Associated
traits (count: 224 )

Variant overlapped rSNPs/rCNVs (count:3237 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2283792	chr22:22131125-22131126	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
2	rs536687105	chr22:22131183-22131184	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs556913620	chr22:22131246-22131247	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs35723944	chr22:22131265-22131266	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs573656960	chr22:22131275-22131276	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs542666735	chr22:22131277-22131278	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs552765157	chr22:22131325-22131326	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs572674957	chr22:22131328-22131329	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs146763760	chr22:22131329-22131330	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs559294056	chr22:22131337-22131338	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs8135386	chr22:22131350-22131351	Strong transcription Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs543502385	chr22:22131403-22131404	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs563657261	chr22:22131479-22131480	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs76016418	chr22:22131516-22131517	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs549468186	chr22:22131525-22131526	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs9622201	chr22:22131530-22131531	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs532555112	chr22:22131549-22131550	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs117207602	chr22:22131577-22131578	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs528728701	chr22:22131599-22131600	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs551993074	chr22:22131609-22131610	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs572016568	chr22:22131712-22131713	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs111673949	chr22:22131739-22131740	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs373791068	chr22:22131741-22131742	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs146212229	chr22:22131749-22131750	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs202130144	chr22:22131756-22131757	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs368555995	chr22:22131757-22131758	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs79735612	chr22:22131760-22131761	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs537702733	chr22:22131763-22131764	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs550314506	chr22:22131787-22131788	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs567219327	chr22:22131818-22131819	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs192763806	chr22:22131869-22131870	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs371729217	chr22:22131904-22131905	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs552398672	chr22:22131916-22131917	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs373036292	chr22:22131945-22131946	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs535986568	chr22:22131960-22131961	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs184824647	chr22:22131990-22131991	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs552679698	chr22:22132009-22132010	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs140217574	chr22:22132029-22132030	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs376755993	chr22:22132046-22132047	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs189337148	chr22:22132052-22132053	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs558330249	chr22:22132116-22132117	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs370390449	chr22:22132119-22132120	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs569184165	chr22:22132133-22132134	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs180867583	chr22:22132140-22132141	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs17003502	chr22:22132156-22132157	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs376145516	chr22:22132175-22132176	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs368039891	chr22:22132194-22132195	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs113229372	chr22:22132196-22132197	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs574005119	chr22:22132203-22132204	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs548528591	chr22:22132211-22132212	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:224)

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
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
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
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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	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	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic myeloid leukemia	21384125	CNVD
Autism	20841430	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:3224 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22110600-22150600	Weak transcription	Fetal Heart	heart
2	chr22:22112400-22136800	Strong transcription	Dnd41	blood
3	chr22:22113400-22163800	Weak transcription	Right Atrium	heart
4	chr22:22113600-22133200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr22:22114200-22172800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr22:22116000-22132800	Strong transcription	K562	blood
7	chr22:22118800-22133400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr22:22121600-22171400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr22:22122200-22132200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr22:22123200-22133600	Strong transcription	Thymus	Thymus
11	chr22:22123200-22162200	Strong transcription	Fetal Thymus	thymus
12	chr22:22127000-22139200	Weak transcription	Stomach Mucosa	stomach
13	chr22:22127200-22133000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr22:22127200-22134600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr22:22127200-22136200	Weak transcription	Pancreas	Pancrea
16	chr22:22127200-22138400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr22:22127200-22141000	Weak transcription	Aorta	Aorta
18	chr22:22127200-22142400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr22:22127200-22145200	Weak transcription	Small Intestine	intestine
20	chr22:22127200-22146000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr22:22127200-22167600	Weak transcription	Psoas Muscle	Psoas
22	chr22:22127200-22170600	Weak transcription	Hela-S3	cervix
23	chr22:22127400-22131200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr22:22127400-22131200	Weak transcription	Placenta	Placenta
25	chr22:22127400-22131600	Weak transcription	NHEK	skin
26	chr22:22127400-22133000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr22:22127400-22133600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr22:22127400-22134600	Weak transcription	Fetal Brain Male	brain
29	chr22:22127400-22137200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr22:22127400-22137800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr22:22127400-22138800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr22:22127400-22139000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr22:22127400-22141600	Weak transcription	Colonic Mucosa	Colon
34	chr22:22127400-22145800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr22:22127400-22146000	Weak transcription	A549	lung
36	chr22:22127600-22132000	Weak transcription	Primary B cells from peripheral blood	blood
37	chr22:22127600-22133600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr22:22127600-22136000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr22:22127600-22136400	Weak transcription	Esophagus	oesophagus
40	chr22:22128200-22136000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr22:22128600-22133000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr22:22128600-22133000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr22:22128600-22133000	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr22:22128600-22133000	Weak transcription	GM12878-XiMat	blood
45	chr22:22128600-22136000	Weak transcription	Gastric	stomach
46	chr22:22128600-22138800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr22:22128600-22139000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr22:22128800-22131800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr22:22129000-22162200	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr22:22129600-22133000	Weak transcription	Brain Inferior Temporal Lobe	brain

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