Variant report

Variant	esv2422476
Chromosome Location	chr22:22256588-22296499
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1287)
CpG islands
(count:855)
Chromatin interactive
region (count:100)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:1287 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:22256741-22256833	HepG2	liver:	n/a	n/a
2	ARID3A	chr22:22292407-22293273	K562	blood:	n/a	n/a
3	ARID3A	chr22:22292460-22293156	HepG2	liver:	n/a	n/a
4	ATF1	chr22:22264747-22264931	K562	blood:	n/a	n/a
5	ATF2	chr22:22292364-22293180	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF3	chr22:22292081-22293278	K562	blood:	n/a	n/a
7	ATF3	chr22:22282384-22282756	K562	blood:	n/a	n/a
8	BACH1	chr22:22292333-22293152	K562	blood:	n/a	n/a
9	BACH1	chr22:22292421-22293206	H1-hESC	embryonic stem cell:	n/a	n/a
10	BATF	chr22:22292460-22292722	GM12878	blood:	n/a	n/a
11	BCL3	chr22:22292392-22293207	A549	lung:	n/a	n/a
12	BCL3	chr22:22292737-22293192	A549	lung:	n/a	n/a
13	BCLAF1	chr22:22292337-22292849	GM12878	blood:	n/a	n/a
14	BCLAF1	chr22:22292363-22293140	GM12878	blood:	n/a	n/a
15	BHLHE40	chr22:22290696-22291118	K562	blood:	n/a	n/a
16	BHLHE40	chr22:22292408-22293180	GM12878	blood:	n/a	n/a
17	BHLHE40	chr22:22256620-22257150	GM12878	blood:	n/a	n/a
18	BHLHE40	chr22:22256777-22257151	K562	blood:	n/a	n/a
19	BHLHE40	chr22:22292171-22293376	K562	blood:	n/a	n/a
20	BHLHE40	chr22:22256793-22257151	HepG2	liver:	n/a	n/a
21	BRCA1	chr22:22292942-22293146	HepG2	liver:	n/a	n/a
22	BRCA1	chr22:22292226-22293082	GM12878	blood:	n/a	n/a
23	BRCA1	chr22:22292443-22293184	H1-hESC	embryonic stem cell:	n/a	n/a
24	BRCA1	chr22:22280044-22280205	H1-hESC	embryonic stem cell:	n/a	n/a
25	BRCA1	chr22:22292338-22292766	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr22:22292575-22292676	HepG2	liver:	n/a	n/a
27	BRCA1	chr22:22285196-22285214	GM12878	blood:	n/a	n/a
28	BRCA1	chr22:22293444-22293447	GM12878	blood:	n/a	n/a
29	CBX3	chr22:22292129-22293390	K562	blood:	n/a	n/a
30	CBX3	chr22:22291602-22293845	K562	blood:	n/a	n/a
31	CCNT2	chr22:22274941-22274947	K562	blood:	n/a	n/a
32	CCNT2	chr22:22277529-22277740	K562	blood:	n/a	n/a
33	CCNT2	chr22:22292041-22293483	K562	blood:	n/a	n/a
34	CEBPB	chr22:22292165-22292493	ECC-1	luminal epithelium:	n/a	n/a
35	CEBPB	chr22:22256741-22257039	HepG2	liver:	n/a	chr22:22256877-22256888
36	CEBPB	chr22:22256703-22257112	HepG2	liver:	n/a	chr22:22256877-22256888
37	CEBPB	chr22:22292117-22292815	A549	lung:	n/a	n/a
38	CEBPB	chr22:22256749-22257008	IMR90	lung:	n/a	chr22:22256877-22256888
39	CEBPB	chr22:22256684-22256986	K562	blood:	n/a	chr22:22256877-22256888
40	CEBPB	chr22:22256734-22257030	MCF-7	breast:	n/a	chr22:22256877-22256888
41	CEBPB	chr22:22292169-22292728	HepG2	liver:	n/a	n/a
42	CEBPB	chr22:22290751-22291175	K562	blood:	n/a	n/a
43	CEBPB	chr22:22292138-22293239	K562	blood:	n/a	n/a
44	CEBPB	chr22:22292098-22293389	K562	blood:	n/a	n/a
45	CEBPB	chr22:22272982-22273272	K562	blood:	n/a	n/a
46	CEBPB	chr22:22272937-22273336	K562	blood:	n/a	n/a
47	CEBPB	chr22:22290787-22291081	HepG2	liver:	n/a	n/a
48	CEBPB	chr22:22292994-22293187	HepG2	liver:	n/a	n/a
49	CEBPB	chr22:22292141-22293184	Hela-S3	cervix:	n/a	n/a
50	CEBPB	chr22:22292171-22293214	H1-hESC	embryonic stem cell:	n/a	n/a

(count:855 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:22288473-22288523	CMK	blood:	n/a
2	chr22:22288473-22288523	CMK	blood:	n/a
3	chr22:22275386-22275436	NHDF-neo	bronchial:	n/a
4	chr22:22288559-22288609	SK-N-MC	brain:	n/a
5	chr22:22288473-22288523	NT2-D1	testis:	n/a
6	chr22:22288559-22288609	HRCEpiC	kidney:	n/a
7	chr22:22288352-22288402	MCF-7	breast:	n/a
8	chr22:22292774-22292824	H1-hESC	embryonic stem cell:	embryo
9	chr22:22292774-22292824	Hela-S3	cervix:	n/a
10	chr22:22292774-22292824	AG09309	skin:	n/a
11	chr22:22290866-22290916	PANC-1	pancreas:	n/a
12	chr22:22292638-22292688	GM06990	blood:	n/a
13	chr22:22292729-22292779	PFSK-1	brain:	n/a
14	chr22:22285359-22285409	T-47D	breast:	n/a
15	chr22:22275386-22275436	GM12878	blood:	n/a
16	chr22:22292729-22292779	HCM	heart:	n/a
17	chr22:22289520-22289570	NHBE	bronchial:	n/a
18	chr22:22288508-22288558	U87	brain:	n/a
19	chr22:22288559-22288609	A549	lung:	n/a
20	chr22:22292241-22292291	HUVEC	blood vessel:	n/a
21	chr22:22292638-22292688	SKMC	muscle:	n/a
22	chr22:22293118-22293168	GM12892	blood:	n/a
23	chr22:22290866-22290916	NHDF-neo	bronchial:	n/a
24	chr22:22292241-22292291	NHBE	bronchial:	n/a
25	chr22:22292241-22292291	HRE	kidney:	n/a
26	chr22:22288352-22288402	U87	brain:	n/a
27	chr22:22289520-22289570	HNPCEpiC	eye:	n/a
28	chr22:22290866-22290916	GM19239	blood:	n/a
29	chr22:22290866-22290916	HPAEpiC	pulmonary alveolar:	n/a
30	chr22:22288508-22288558	HRPEpiC	eye:	n/a
31	chr22:22292774-22292824	HL-60	blood:	n/a
32	chr22:22292774-22292824	HUVEC	blood vessel:	n/a
33	chr22:22290866-22290916	AG10803	skin:	n/a
34	chr22:22292638-22292688	NH-A	brain:	n/a
35	chr22:22288559-22288609	SKMC	muscle:	n/a
36	chr22:22293118-22293168	BJ	skin:	n/a
37	chr22:22292241-22292291	NT2-D1	testis:	n/a
38	chr22:22288508-22288558	ovcar-3	ovarian:	n/a
39	chr22:22292241-22292291	SK-N-MC	brain:	n/a
40	chr22:22292774-22292824	SKMC	muscle:	n/a
41	chr22:22292241-22292291	AG04449	skin:	fetal
42	chr22:22292638-22292688	U87	brain:	n/a
43	chr22:22287697-22287747	HepG2	liver:	n/a
44	chr22:22289520-22289570	HRCEpiC	kidney:	n/a
45	chr22:22293118-22293168	HEEpiC	esophagus:	n/a
46	chr22:22292241-22292291	HEEpiC	esophagus:	n/a
47	chr22:22288559-22288609	BJ	skin:	n/a
48	chr22:22293118-22293168	NH-A	brain:	n/a
49	chr22:22290866-22290916	HCT-116	colon:	n/a
50	chr22:22292638-22292688	HCF	heart:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr22:22282048..22284001-chr22:22320805..22323997,3	K562	blood:
2	chr22:22259830..22262116-chr22:22275142..22276644,2	K562	blood:
3	chr22:22081098..22081614-chr22:22292958..22293509,2	MCF-7	breast:
4	chr22:22256470..22260039-chr22:22260822..22265830,5	K562	blood:
5	chr22:22215700..22218556-chr22:22295554..22298706,3	K562	blood:
6	chr22:22281349..22281887-chr22:22292484..22293029,2	K562	blood:
7	chr22:22289971..22291748-chr22:22301610..22304244,2	MCF-7	breast:
8	chr22:22292721..22294523-chr22:22322967..22324899,2	K562	blood:
9	chr22:21996404..21998024-chr22:22293546..22295195,2	K562	blood:
10	chr22:22089107..22091803-chr22:22256760..22258300,2	K562	blood:
11	chr22:22130737..22132240-chr22:22289657..22292393,2	K562	blood:
12	chr22:22295757..22298107-chr4:82520720..82523521,2	MCF-7	breast:
13	chr22:22251405..22254197-chr22:22259898..22262230,2	K562	blood:
14	chr22:22288016..22289927-chr22:22504008..22506901,2	K562	blood:
15	chr22:22286538..22290213-chr22:22291627..22293821,3	MCF-7	breast:
16	chr22:22242609..22244247-chr22:22272159..22274753,3	K562	blood:
17	chr22:22274411..22276355-chr22:22316813..22318418,2	K562	blood:
18	chr22:22289966..22298336-chr22:22332694..22342462,17	K562	blood:
19	chr22:22127086..22129647-chr22:22272153..22274882,2	K562	blood:
20	chr22:22296163..22299761-chr22:22300679..22303627,3	MCF-7	breast:
21	chr22:22005749..22007465-chr22:22293364..22295229,2	K562	blood:
22	chr22:22220257..22223604-chr22:22286851..22291007,5	K562	blood:
23	chr22:22006832..22007456-chr22:22292539..22293060,2	K562	blood:
24	chr22:22255129..22259166-chr22:22267129..22272472,7	K562	blood:
25	chr22:22005965..22007764-chr22:22291588..22295229,3	K562	blood:
26	chr22:22111218..22112797-chr22:22262465..22264445,2	K562	blood:
27	chr22:22220713..22222997-chr22:22291482..22294607,4	MCF-7	breast:
28	chr22:22249618..22251729-chr22:22257192..22258847,2	K562	blood:
29	chr22:22291707..22294409-chr22:22295547..22298448,3	MCF-7	breast:
30	chr22:22292189..22293096-chr5:43312426..43313399,2	Hela-S3	cervix:
31	chr22:22275985..22278727-chr22:22278922..22281460,2	MCF-7	breast:
32	chr22:22089192..22091927-chr22:22279825..22282512,2	K562	blood:
33	chr22:22257343..22259048-chr22:22270249..22272974,2	K562	blood:
34	chr22:22071322..22073400-chr22:22269185..22271638,3	K562	blood:
35	chr22:22220394..22223080-chr22:22273867..22276195,3	K562	blood:
36	chr22:22256382..22259284-chr22:22291547..22294130,2	K562	blood:
37	chr22:22218339..22225021-chr22:22291070..22294784,16	K562	blood:
38	chr22:22221035..22223195-chr22:22267971..22269514,2	K562	blood:
39	chr22:22222052..22225608-chr22:22280973..22283949,4	K562	blood:
40	chr22:22146096..22148051-chr22:22257614..22260158,2	K562	blood:
41	chr22:22292249..22292768-chr6:36853269..36853777,2	K562	blood:
42	chr22:22087956..22092439-chr22:22291559..22296073,7	K562	blood:
43	chr22:22088558..22091426-chr22:22293514..22295248,2	K562	blood:
44	chr22:22083663..22085506-chr22:22275492..22277482,2	K562	blood:
45	chr22:21976586..21979474-chr22:22290804..22292395,2	K562	blood:
46	chr22:22218324..22226656-chr22:22285349..22295547,26	K562	blood:
47	chr22:22067689..22069822-chr22:22273194..22275247,2	K562	blood:
48	chr22:22257361..22259366-chr22:22260466..22262101,2	K562	blood:
49	chr22:22018294..22022300-chr22:22291370..22294276,5	K562	blood:
50	chr22:22053860..22056327-chr22:22270499..22272537,2	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPIL2-1	chr22:22295474-22297794	NONHSAT083725
2	lnc-TOP3B-2	chr22:22292576-22292903	NONHSAT083723
3	lnc-PPIL2-1	chr22:22292609-22294263	ENSG00000224086.3
4	lnc-TOP3B-2	chr22:22291334-22291588	NONHSAT083723
5	lnc-PPIL2-1	chr22:22295474-22297799	ENSG00000224086.3
6	lnc-PPIL2-1	chr22:22292665-22292934	NONHSAT083725
7	lnc-PPIL2-6	chr22:22259443-22260193	NONHSAT083722
8	lnc-PPIL2-1	chr22:22292665-22293985	ENSG00000224086.3

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	PPM1F	hsa-miR-186-5p	chr22:22276653-22276674

Variant related genes	Relation type
ENSG00000224086	TF binding region
PPM1F	TF binding region
ENSG00000224086	CpG island
PPM1F	CpG island
ENSG00000254075	chromatin interactions
ENSG00000212102	chromatin interactions
ENSG00000224086	chromatin interactions
ENSG00000198663	chromatin interactions
ENSG00000100027	chromatin interactions
ENSG00000207751	chromatin interactions
ENSG00000161179	chromatin interactions
ENSG00000254355	chromatin interactions
ENSG00000100034	chromatin interactions
ENSG00000100038	chromatin interactions
ENSG00000100030	chromatin interactions
ENSG00000200985	chromatin interactions
ENSG00000128228	chromatin interactions
ENSG00000211637	chromatin interactions
ENSG00000112972	chromatin interactions
ENSG00000100023	chromatin interactions

Extended variants
information (count: 1700 )
Associated
traits (count: 217 )

Variant overlapped rSNPs/rCNVs (count:1700 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79967976	chr22:22256632-22256633	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs554606502	chr22:22256665-22256666	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs574792766	chr22:22256685-22256686	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs61005278	chr22:22256749-22256750	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs528460713	chr22:22256756-22256757	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs8143115	chr22:22256773-22256774	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs188596213	chr22:22256818-22256819	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs531053248	chr22:22256854-22256855	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs551165072	chr22:22256883-22256884	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs567475687	chr22:22256915-22256916	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs549166652	chr22:22256924-22256925	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs546857843	chr22:22256934-22256935	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs566167669	chr22:22256948-22256949	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs538604520	chr22:22256969-22256970	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs139530401	chr22:22256995-22256996	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs568921529	chr22:22257009-22257010	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs191342042	chr22:22257019-22257020	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs183259328	chr22:22257087-22257088	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs574656626	chr22:22257096-22257097	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs540548098	chr22:22257105-22257106	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs538067148	chr22:22257134-22257135	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs554092989	chr22:22257165-22257166	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs552473679	chr22:22257196-22257197	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs187599423	chr22:22257205-22257206	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs545377102	chr22:22257263-22257264	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs4383430	chr22:22257277-22257278	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs28533216	chr22:22257362-22257363	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs957257	chr22:22257391-22257392	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs565094032	chr22:22257403-22257404	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs572498652	chr22:22257482-22257483	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs575698997	chr22:22257484-22257485	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs544353078	chr22:22257488-22257489	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs240620	chr22:22257490-22257491	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs570460386	chr22:22257491-22257492	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs565866428	chr22:22257606-22257607	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs564452167	chr22:22257624-22257625	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs73877681	chr22:22257636-22257637	Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs5755996	chr22:22257652-22257653	Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs552158077	chr22:22257714-22257715	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs551650464	chr22:22257749-22257750	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs142855698	chr22:22257757-22257758	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs373160054	chr22:22257772-22257773	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs548272412	chr22:22257780-22257781	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs370842824	chr22:22257799-22257800	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs568296277	chr22:22257833-22257834	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs191256493	chr22:22257861-22257862	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs111934857	chr22:22257921-22257922	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs587722827	chr22:22257922-22257923	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs150752864	chr22:22257949-22257950	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs146367138	chr22:22257950-22257951	Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:217)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
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
DiGeorge-Velo cardiofacial	17597781	CNVD
Digeorge syndrome	17576883	CNVD
Schizophrenia	18806272	CNVD
Schizophrenia	18990708	CNVD
Velocardiofacial syndrome	17576883	CNVD
Schizophrenia	20075378	CNVD
Neurodevelopmental disorder	17015230	CNVD
Neuropsychiatric disorder	20069037	CNVD
Williams-beuren syndrome	18553513	CNVD
Emphysema	19352772	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1508 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22235800-22258400	Weak transcription	Right Atrium	heart
2	chr22:22254600-22258800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr22:22254800-22256600	Weak transcription	HepG2	liver
4	chr22:22255800-22271000	Weak transcription	Fetal Muscle Leg	muscle
5	chr22:22256000-22267000	Weak transcription	Brain Anterior Caudate	brain
6	chr22:22256200-22271200	Weak transcription	Fetal Stomach	stomach
7	chr22:22256200-22271600	Weak transcription	Brain Germinal Matrix	brain
8	chr22:22256400-22257200	Enhancers	Placenta	Placenta
9	chr22:22256400-22257400	Enhancers	GM12878-XiMat	blood
10	chr22:22256600-22257400	Enhancers	HepG2	liver
11	chr22:22256600-22261000	Weak transcription	Left Ventricle	heart
12	chr22:22256600-22273600	Weak transcription	Lung	lung
13	chr22:22256800-22258400	Weak transcription	Right Ventricle	heart
14	chr22:22256800-22258400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr22:22256800-22271600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr22:22257000-22257400	Bivalent Enhancer	K562	blood
17	chr22:22257000-22258600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr22:22257000-22277600	Weak transcription	Aorta	Aorta
19	chr22:22257200-22262600	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr22:22257200-22273400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr22:22257400-22257600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr22:22257600-22258600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr22:22257600-22270000	Weak transcription	Fetal Muscle Trunk	muscle
24	chr22:22257600-22271200	Weak transcription	Adipose Nuclei	Adipose
25	chr22:22257600-22273400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr22:22258400-22258600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr22:22258400-22258800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr22:22258400-22258800	Weak transcription	Spleen	Spleen
29	chr22:22258400-22259200	Strong transcription	Right Atrium	heart
30	chr22:22258400-22259200	Strong transcription	Right Ventricle	heart
31	chr22:22258400-22259200	Strong transcription	Stomach Smooth Muscle	stomach
32	chr22:22258600-22259200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr22:22258600-22271600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr22:22258800-22259000	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
35	chr22:22258800-22259200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr22:22258800-22259200	Genic enhancers	Spleen	Spleen
37	chr22:22258800-22274400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr22:22259000-22271600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr22:22259200-22263600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr22:22259200-22269600	Weak transcription	Right Atrium	heart
41	chr22:22259200-22270600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr22:22259200-22271600	Weak transcription	Right Ventricle	heart
43	chr22:22259200-22271600	Weak transcription	Spleen	Spleen
44	chr22:22261000-22262400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr22:22262600-22262800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr22:22262800-22270400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr22:22264200-22264400	Bivalent Enhancer	K562	blood
48	chr22:22264400-22264600	Enhancers	HSMM	muscle
49	chr22:22264400-22265000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr22:22264400-22265200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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