Variant report

Variant	nsv828966
Chromosome Location	chr22:22277124-22350308
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3726)
CpG islands
(count:2625)
Chromatin interactive
region (count:196)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3726 , 50 per page) page: 1 2 3 4 5 6 7 ... 75

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:22292460-22293156	HepG2	liver:	n/a	n/a
2	ARID3A	chr22:22307263-22307486	K562	blood:	n/a	n/a
3	ARID3A	chr22:22302093-22302226	HepG2	liver:	n/a	n/a
4	ARID3A	chr22:22337039-22337516	K562	blood:	n/a	n/a
5	ARID3A	chr22:22306577-22306630	HepG2	liver:	n/a	n/a
6	ARID3A	chr22:22307655-22307768	HepG2	liver:	n/a	n/a
7	ARID3A	chr22:22337105-22337394	HepG2	liver:	n/a	n/a
8	ARID3A	chr22:22339268-22339597	K562	blood:	n/a	n/a
9	ARID3A	chr22:22302000-22302519	K562	blood:	n/a	n/a
10	ARID3A	chr22:22292407-22293273	K562	blood:	n/a	n/a
11	ATF2	chr22:22337013-22337406	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr22:22292364-22293180	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr22:22336963-22337512	GM12878	blood:	n/a	n/a
14	ATF2	chr22:22337046-22337443	GM12878	blood:	n/a	n/a
15	ATF3	chr22:22336920-22337450	K562	blood:	n/a	n/a
16	ATF3	chr22:22336622-22337455	K562	blood:	n/a	n/a
17	ATF3	chr22:22337022-22337431	A549	lung:	n/a	n/a
18	ATF3	chr22:22292081-22293278	K562	blood:	n/a	n/a
19	ATF3	chr22:22306866-22307977	K562	blood:	n/a	n/a
20	ATF3	chr22:22339054-22340019	K562	blood:	n/a	n/a
21	ATF3	chr22:22328320-22329148	K562	blood:	n/a	n/a
22	ATF3	chr22:22282384-22282756	K562	blood:	n/a	n/a
23	ATF3	chr22:22326711-22327539	K562	blood:	n/a	n/a
24	BACH1	chr22:22301982-22302288	H1-hESC	embryonic stem cell:	n/a	n/a
25	BACH1	chr22:22307058-22307324	K562	blood:	n/a	n/a
26	BACH1	chr22:22337071-22337345	H1-hESC	embryonic stem cell:	n/a	n/a
27	BACH1	chr22:22292333-22293152	K562	blood:	n/a	n/a
28	BACH1	chr22:22307119-22307441	H1-hESC	embryonic stem cell:	n/a	n/a
29	BACH1	chr22:22292421-22293206	H1-hESC	embryonic stem cell:	n/a	n/a
30	BACH1	chr22:22337067-22337481	K562	blood:	n/a	n/a
31	BATF	chr22:22292460-22292722	GM12878	blood:	n/a	n/a
32	BATF	chr22:22337088-22337392	GM12878	blood:	n/a	n/a
33	BCL3	chr22:22336978-22337514	A549	lung:	n/a	chr22:22337114-22337127
34	BCL3	chr22:22313952-22315920	K562	blood:	n/a	chr22:22315179-22315192 chr22:22315274-22315283 chr22:22315390-22315399
35	BCL3	chr22:22292392-22293207	A549	lung:	n/a	n/a
36	BCL3	chr22:22292737-22293192	A549	lung:	n/a	n/a
37	BCL3	chr22:22320187-22321216	K562	blood:	n/a	n/a
38	BCLAF1	chr22:22292337-22292849	GM12878	blood:	n/a	n/a
39	BCLAF1	chr22:22307022-22307505	GM12878	blood:	n/a	n/a
40	BCLAF1	chr22:22336890-22337545	GM12878	blood:	n/a	chr22:22337114-22337127
41	BCLAF1	chr22:22336985-22337436	GM12878	blood:	n/a	chr22:22337114-22337127
42	BCLAF1	chr22:22336752-22337612	K562	blood:	n/a	chr22:22337114-22337127
43	BCLAF1	chr22:22336162-22337594	K562	blood:	n/a	chr22:22336598-22336607 chr22:22337114-22337127
44	BCLAF1	chr22:22292363-22293140	GM12878	blood:	n/a	n/a
45	BHLHE40	chr22:22301242-22302464	K562	blood:	n/a	n/a
46	BHLHE40	chr22:22337085-22337457	GM12878	blood:	n/a	chr22:22337247-22337263
47	BHLHE40	chr22:22326701-22326993	K562	blood:	n/a	n/a
48	BHLHE40	chr22:22290696-22291118	K562	blood:	n/a	n/a
49	BHLHE40	chr22:22342568-22342650	K562	blood:	n/a	n/a
50	BHLHE40	chr22:22339249-22339743	K562	blood:	n/a	chr22:22339441-22339457

(count:2625 , 50 per page) page: 1 2 3 4 5 6 7 ... 53

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:22307684-22307734	PrEC	prostate:	n/a
2	chr22:22315643-22315693	AG04450	lung:	fetal
3	chr22:22307684-22307734	PrEC	prostate:	n/a
4	chr22:22315643-22315693	AG04450	lung:	fetal
5	chr22:22311698-22311748	HPAEpiC	pulmonary alveolar:	n/a
6	chr22:22337468-22337518	Jurkat	blood:	n/a
7	chr22:22288352-22288402	GM19239	blood:	n/a
8	chr22:22307197-22307247	NT2-D1	testis:	n/a
9	chr22:22285359-22285409	U87	brain:	n/a
10	chr22:22288559-22288609	IMR90	lung:	fetal
11	chr22:22309769-22309819	PrEC	prostate:	n/a
12	chr22:22315643-22315693	MCF-7	breast:	n/a
13	chr22:22288473-22288523	HRCEpiC	kidney:	n/a
14	chr22:22339538-22339588	HCF	heart:	n/a
15	chr22:22307371-22307421	HRPEpiC	eye:	n/a
16	chr22:22289520-22289570	HCPEpiC	choroid plexus:	n/a
17	chr22:22288352-22288402	AoSMC	blood vessel:	n/a
18	chr22:22337468-22337518	PFSK-1	brain:	n/a
19	chr22:22336396-22336446	HCT-116	colon:	n/a
20	chr22:22337141-22337191	H1-hESC	embryonic stem cell:	embryo
21	chr22:22289520-22289570	HepG2	liver:	n/a
22	chr22:22292729-22292779	BE2_C	brain:	n/a
23	chr22:22309769-22309819	RPTEC	kidney:	n/a
24	chr22:22315643-22315693	Jurkat	blood:	n/a
25	chr22:22306263-22306313	ovcar-3	ovarian:	n/a
26	chr22:22292241-22292291	HRPEpiC	eye:	n/a
27	chr22:22312957-22313007	HCPEpiC	choroid plexus:	n/a
28	chr22:22312957-22313007	SK-N-SH	brain:	n/a
29	chr22:22337171-22337221	GM19239	blood:	n/a
30	chr22:22311698-22311748	HIPEpiC	eye:	n/a
31	chr22:22337374-22337424	HEEpiC	esophagus:	n/a
32	chr22:22307070-22307120	GM06990	blood:	n/a
33	chr22:22334553-22334603	SKMC	muscle:	n/a
34	chr22:22292638-22292688	Hepatocyte	liver:	n/a
35	chr22:22311698-22311748	HEEpiC	esophagus:	n/a
36	chr22:22312957-22313007	HCT-116	colon:	n/a
37	chr22:22337141-22337191	PANC-1	pancreas:	n/a
38	chr22:22337369-22337419	NHBE	bronchial:	n/a
39	chr22:22289520-22289570	LNCaP	prostate:	n/a
40	chr22:22336396-22336446	GM06990	blood:	n/a
41	chr22:22307070-22307120	NH-A	brain:	n/a
42	chr22:22315643-22315693	HRPEpiC	eye:	n/a
43	chr22:22337141-22337191	Jurkat	blood:	n/a
44	chr22:22290866-22290916	BJ	skin:	n/a
45	chr22:22337468-22337518	HCM	heart:	n/a
46	chr22:22292241-22292291	HIPEpiC	eye:	n/a
47	chr22:22307378-22307428	HRCEpiC	kidney:	n/a
48	chr22:22290866-22290916	NT2-D1	testis:	n/a
49	chr22:22307482-22307532	HMEC	breast:	n/a
50	chr22:22306263-22306313	Jurkat	blood:	n/a

(count:196 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr22:22292166..22293064-chr22:22414699..22415634,3	K562	blood:
2	chr22:22055923..22058133-chr22:22298564..22300939,2	K562	blood:
3	chr22:22110435..22112750-chr22:22276025..22277904,2	K562	blood:
4	chr22:22112619..22115133-chr22:22299104..22302068,3	K562	blood:
5	chr22:22329308..22331029-chr22:22335214..22337114,2	MCF-7	breast:
6	chr22:22221788..22224582-chr22:22300522..22304100,3	K562	blood:
7	chr22:22218169..22225151-chr22:22299036..22308632,16	K562	blood:
8	chr22:22053698..22055287-chr22:22332085..22334698,2	K562	blood:
9	chr22:22299166..22301404-chr22:22302950..22305296,2	MCF-7	breast:
10	chr22:22301565..22302189-chr22:22326385..22327307,2	K562	blood:
11	chr22:21996454..21998560-chr22:22301298..22303661,2	K562	blood:
12	chr22:22255775..22257984-chr22:22276245..22278618,2	K562	blood:
13	chr22:22326562..22327268-chr22:22335793..22337003,3	K562	blood:
14	chr22:22006264..22009261-chr22:22291037..22293088,2	K562	blood:
15	chr22:22306382..22307926-chrX:12992863..12994802,2	MCF-7	breast:
16	chr22:21981288..21984493-chr22:22304068..22306404,3	K562	blood:
17	chr22:22320427..22322900-chr22:22335647..22337789,2	MCF-7	breast:
18	chr22:22326791..22328773-chr22:22331790..22334833,5	MCF-7	breast:
19	chr22:22347985..22349718-chr22:22383562..22385673,2	K562	blood:
20	chr22:21996404..21998024-chr22:22293546..22295195,2	K562	blood:
21	chr22:21981138..21983094-chr22:22301398..22303697,2	K562	blood:
22	chr22:22088545..22090754-chr22:22292290..22294479,2	MCF-7	breast:
23	chr22:22067136..22068163-chr22:22300753..22302623,8	K562	blood:
24	chr22:22067733..22069469-chr22:22300683..22303045,3	MCF-7	breast:
25	chr22:22282048..22284001-chr22:22320805..22323997,3	K562	blood:
26	chr22:22221197..22223179-chr22:22279633..22282369,2	K562	blood:
27	chr22:22289308..22291849-chr22:22311422..22312975,2	K562	blood:
28	chr22:22068976..22070805-chr22:22338625..22340951,2	K562	blood:
29	chr22:22338264..22341028-chr22:22377177..22379400,2	K562	blood:
30	chr22:21996385..21999252-chr22:22290359..22292966,2	K562	blood:
31	chr22:22315227..22317746-chr22:22319787..22322237,2	MCF-7	breast:
32	chr22:22015152..22017176-chr22:22303779..22306519,2	K562	blood:
33	chr22:22081098..22081614-chr22:22292958..22293509,2	MCF-7	breast:
34	chr22:22299166..22301404-chr22:22302950..22305296,2	MCF-7	breast:
35	chr22:22120700..22123218-chr22:22298408..22301361,2	K562	blood:
36	chr22:22303827..22304626-chr22:22326823..22327382,2	K562	blood:
37	chr22:22307132..22307792-chr22:22336951..22337632,2	K562	blood:
38	chr22:22292249..22292768-chr6:36853269..36853777,2	K562	blood:
39	chr22:22292079..22293713-chr22:22306781..22307947,29	K562	blood:
40	chr22:22339150..22339972-chr22:22457111..22457827,3	K562	blood:
41	chr22:22006832..22007456-chr22:22292539..22293060,2	K562	blood:
42	chr22:22292189..22293096-chr5:43312426..43313399,2	Hela-S3	cervix:
43	chr22:22338264..22343041-chr22:22376495..22378677,4	K562	blood:
44	chr22:22292568..22294613-chr22:22327761..22330729,3	K562	blood:
45	chr22:22291063..22292706-chr22:22313114..22314633,2	K562	blood:
46	chr22:22316437..22317944-chr22:22319379..22321751,2	MCF-7	breast:
47	chr22:22331326..22332844-chr22:22424679..22426503,2	K562	blood:
48	chr22:22292026..22293306-chr22:22304101..22305516,4	K562	blood:
49	chr22:22083663..22085506-chr22:22275492..22277482,2	K562	blood:
50	chr22:22296163..22299761-chr22:22300679..22303627,3	MCF-7	breast:

(count:7 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
TOP3B	TF binding region
PRAMENP	TF binding region
ENSG00000224086	TF binding region
PPM1F	TF binding region
TOP3B	CpG island
PRAMENP	CpG island
ENSG00000224086	CpG island
PPM1F	CpG island
ENSG00000128228	chromatin interactions
ENSG00000198663	chromatin interactions
ENSG00000253239	chromatin interactions
ENSG00000100023	chromatin interactions
ENSG00000211637	chromatin interactions
ENSG00000100030	chromatin interactions
ENSG00000249333	chromatin interactions
ENSG00000100027	chromatin interactions
ENSG00000205542	chromatin interactions
ENSG00000161179	chromatin interactions
ENSG00000100038	chromatin interactions
ENSG00000254355	chromatin interactions
ENSG00000185651	chromatin interactions
ENSG00000212102	chromatin interactions
ENSG00000227710	chromatin interactions
ENSG00000112972	chromatin interactions
ENSG00000100034	chromatin interactions
ENSG00000185686	chromatin interactions
ENSG00000253823	chromatin interactions
ENSG00000253794	chromatin interactions
ENSG00000224086	chromatin interactions
ENSG00000272954	chromatin interactions
ENSG00000225741	chromatin interactions
ENSG00000197549	chromatin interactions
ENSG00000223461	chromatin interactions
ENSG00000070413	chromatin interactions
ENSG00000228161	chromatin interactions
ENSG00000254075	chromatin interactions
ENSG00000253752	chromatin interactions
ENSG00000207751	chromatin interactions

Extended variants
information (count: 3116 )
Associated
traits (count: 217 )

Variant overlapped rSNPs/rCNVs (count:3116 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs41283229	chr22:22277199-22277200	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs371192238	chr22:22277281-22277282	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs112740079	chr22:22277288-22277289	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs375126572	chr22:22277303-22277304	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs2070506	chr22:22277307-22277308	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs540062906	chr22:22277314-22277315	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs376821015	chr22:22277315-22277316	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs186058960	chr22:22277317-22277318	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs372208477	chr22:22277320-22277321	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs538201251	chr22:22277327-22277328	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs34972733	chr22:22277388-22277389	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs191405820	chr22:22277405-22277406	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs575145985	chr22:22277419-22277420	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs540237793	chr22:22277447-22277448	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs111319810	chr22:22277464-22277465	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs148553069	chr22:22277468-22277469	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs573931338	chr22:22277474-22277475	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs142878396	chr22:22277477-22277478	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs74525416	chr22:22277485-22277486	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs139119123	chr22:22277521-22277522	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs374898094	chr22:22277541-22277542	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs2070507	chr22:22277571-22277572	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs372015251	chr22:22277599-22277600	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs559659083	chr22:22277601-22277602	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs199787665	chr22:22277609-22277610	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs369252135	chr22:22277620-22277621	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs200753279	chr22:22277631-22277632	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs201217825	chr22:22277637-22277638	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs146460819	chr22:22277647-22277648	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs147873434	chr22:22277659-22277660	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs141445899	chr22:22277660-22277661	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs373611791	chr22:22277662-22277663	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs149886262	chr22:22277667-22277668	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs541801402	chr22:22277668-22277669	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs240061	chr22:22277675-22277676	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs149519614	chr22:22277680-22277681	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs377507736	chr22:22277698-22277699	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs143120845	chr22:22277704-22277705	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs369233514	chr22:22277778-22277779	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs373995253	chr22:22277783-22277784	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs144940091	chr22:22277784-22277785	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs199861570	chr22:22277793-22277794	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs114630807	chr22:22277794-22277795	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs141626312	chr22:22277813-22277814	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs552638029	chr22:22277817-22277818	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs377686957	chr22:22277822-22277823	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs111806563	chr22:22277825-22277826	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs146186427	chr22:22277828-22277829	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs371072792	chr22:22277854-22277855	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs148648949	chr22:22277855-22277856	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:3396 , 50 per page) page: 1 2 3 4 5 6 7 ... 68

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22257000-22277600	Weak transcription	Aorta	Aorta
2	chr22:22271800-22281000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr22:22272000-22279600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr22:22272000-22282400	Weak transcription	Colon Smooth Muscle	Colon
5	chr22:22272200-22277600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr22:22272200-22279600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr22:22272200-22279600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr22:22272200-22279600	Weak transcription	Liver	Liver
9	chr22:22272200-22281400	Weak transcription	Brain Angular Gyrus	brain
10	chr22:22272200-22284800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr22:22272400-22279600	Weak transcription	K562	blood
12	chr22:22272400-22282800	Weak transcription	HSMM	muscle
13	chr22:22272400-22283200	Weak transcription	Brain Substantia Nigra	brain
14	chr22:22272400-22283200	Weak transcription	HSMMtube	muscle
15	chr22:22272600-22279800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr22:22272600-22279800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr22:22272600-22280000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr22:22272600-22283800	Weak transcription	HepG2	liver
19	chr22:22272800-22283000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr22:22273000-22280200	Weak transcription	NHEK	skin
21	chr22:22273000-22288400	Strong transcription	Fetal Muscle Leg	muscle
22	chr22:22273000-22291000	Strong transcription	Fetal Stomach	stomach
23	chr22:22273200-22283000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr22:22273200-22283000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr22:22273200-22283400	Weak transcription	Thymus	Thymus
26	chr22:22273200-22291000	Weak transcription	Psoas Muscle	Psoas
27	chr22:22273400-22277400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr22:22273400-22277800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr22:22273400-22278600	Strong transcription	Placenta	Placenta
30	chr22:22273400-22280800	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr22:22273400-22283600	Weak transcription	Dnd41	blood
32	chr22:22273400-22284600	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr22:22273400-22289400	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr22:22273400-22289400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr22:22273400-22289600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr22:22273400-22289600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr22:22273400-22290200	Strong transcription	Adipose Nuclei	Adipose
38	chr22:22273600-22279600	Weak transcription	Duodenum Mucosa	Duodenum
39	chr22:22273600-22280800	Weak transcription	Colonic Mucosa	Colon
40	chr22:22273600-22281200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr22:22273600-22281200	Weak transcription	Primary B cells from peripheral blood	blood
42	chr22:22273600-22282800	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr22:22273600-22289400	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr22:22273600-22289600	Strong transcription	Lung	lung
45	chr22:22273800-22277400	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr22:22273800-22277600	Enhancers	H1 Cell Line	embryonic stem cell
47	chr22:22274000-22277200	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr22:22274000-22277200	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr22:22274000-22277800	Strong transcription	Placenta Amnion	Placenta Amnion
50	chr22:22274000-22278600	Strong transcription	Right Ventricle	heart

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