Variant report

Variant	nsv1059368
Chromosome Location	chr22:33249121-33268782
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:108)
CpG islands
(count:122)
Chromatin interactive
region (count:25)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:17)

(count:108 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr22:33251049-33251346	A549	lung:	n/a	chr22:33251157-33251170 chr22:33251158-33251169 chr22:33251157-33251168 chr22:33251159-33251168
2	CEBPB	chr22:33250999-33251363	K562	blood:	n/a	chr22:33251157-33251170 chr22:33251158-33251169 chr22:33251157-33251168 chr22:33251159-33251168
3	CEBPB	chr22:33250991-33251590	IMR90	lung:	n/a	chr22:33251157-33251170 chr22:33251158-33251169 chr22:33251157-33251168 chr22:33251159-33251168
4	CEBPB	chr22:33250997-33251384	HepG2	liver:	n/a	chr22:33251157-33251170 chr22:33251158-33251169 chr22:33251157-33251168 chr22:33251159-33251168
5	CHD2	chr22:33257441-33257568	HepG2	liver:	n/a	n/a
6	CTCF	chr22:33263120-33263270	GM12869	blood:	n/a	n/a
7	CTCF	chr22:33263040-33263190	HEK293	kidney:	n/a	n/a
8	CTCF	chr22:33263000-33263150	BE2_C	brain:	n/a	n/a
9	CTCF	chr22:33263080-33263230	HepG2	liver:	n/a	n/a
10	CTCF	chr22:33263020-33263170	AG04450	lung:	n/a	n/a
11	CTCF	chr22:33250720-33250870	HMEC	breast:	n/a	n/a
12	CTCF	chr22:33263020-33263170	HRPEpiC	eye:	n/a	n/a
13	CTCF	chr22:33263080-33263230	HBMEC	blood vessel:	n/a	n/a
14	CTCF	chr22:33263100-33263250	NHEK	skin:	n/a	n/a
15	CTCF	chr22:33263040-33263190	HEEpiC	esophagus:	n/a	n/a
16	CTCF	chr22:33263060-33263210	HEK293	kidney:	n/a	n/a
17	CTCF	chr22:33262980-33263130	AG04450	lung:	n/a	n/a
18	CTCF	chr22:33263040-33263190	HRPEpiC	eye:	n/a	n/a
19	CTCF	chr22:33263020-33263170	SAEC	small airway:	n/a	n/a
20	EP300	chr22:33248019-33249599	SK-N-SH	brain:	n/a	n/a
21	FOSL2	chr22:33257217-33257726	HepG2	liver:	n/a	n/a
22	FOSL2	chr22:33258043-33258901	HepG2	liver:	n/a	n/a
23	FOSL2	chr22:33258954-33259661	HepG2	liver:	n/a	n/a
24	GATA2	chr22:33248443-33249425	SH-SY5Y	brain:	n/a	chr22:33248457-33248465 chr22:33248855-33248864 chr22:33248855-33248862
25	GATA2	chr22:33254920-33255388	SH-SY5Y	brain:	n/a	n/a
26	GATA3	chr22:33248687-33249315	SH-SY5Y	brain:	n/a	chr22:33248855-33248864 chr22:33248855-33248862
27	GATA3	chr22:33254830-33255417	SH-SY5Y	brain:	n/a	n/a
28	MAFK	chr22:33253268-33253272	K562	blood:	n/a	n/a
29	MAFK	chr22:33254424-33254519	HepG2	liver:	n/a	chr22:33254493-33254502 chr22:33254489-33254503 chr22:33254486-33254506
30	MAX	chr22:33248890-33249191	NB4	blood:	n/a	chr22:33249012-33249022
31	MXI1	chr22:33248618-33249395	SK-N-SH	brain:	n/a	n/a
32	MYC	chr22:33264907-33264933	MCF-7	breast:	n/a	n/a
33	MYC	chr22:33256714-33256758	MCF-7	breast:	n/a	n/a
34	POLR2A	chr22:33257200-33259031	HepG2	liver:	n/a	n/a
35	POLR2A	chr22:33257019-33257464	U87	brain:	n/a	n/a
36	POLR2A	chr22:33259031-33259050	HepG2	liver:	n/a	n/a
37	POLR2A	chr22:33260581-33261373	U87	brain:	n/a	n/a
38	POLR2A	chr22:33258117-33258826	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr22:33259294-33259748	HepG2	liver:	n/a	n/a
40	POLR2A	chr22:33248828-33249182	U87	brain:	n/a	n/a
41	POLR2A	chr22:33257385-33257700	HepG2	liver:	n/a	n/a
42	POLR2A	chr22:33257996-33258649	HepG2	liver:	n/a	n/a
43	POLR2A	chr22:33261810-33261839	ProgFib	skin:	n/a	n/a
44	POLR2A	chr22:33255905-33256191	HepG2	liver:	n/a	n/a
45	POLR2A	chr22:33254616-33254676	HepG2	liver:	n/a	n/a
46	POLR2A	chr22:33257777-33258042	U87	brain:	n/a	n/a
47	POLR2A	chr22:33255979-33256474	U87	brain:	n/a	n/a
48	POLR2A	chr22:33254480-33254570	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr22:33254453-33260989	IMR90	lung:	n/a	n/a
50	POLR2A	chr22:33262956-33263043	H1-hESC	embryonic stem cell:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:33258777-33258827	T-47D	breast:	n/a
2	chr22:33258777-33258827	HCPEpiC	choroid plexus:	n/a
3	chr22:33257641-33257691	MCF-7	breast:	n/a
4	chr22:33258777-33258827	MCF10A-Er-Src	breast:	n/a
5	chr22:33258777-33258827	GM12892	blood:	n/a
6	chr22:33258777-33258827	U87	brain:	n/a
7	chr22:33258777-33258827	HPAEpiC	pulmonary alveolar:	n/a
8	chr22:33257641-33257691	IMR90	lung:	fetal
9	chr22:33257641-33257691	BJ	skin:	n/a
10	chr22:33257641-33257691	AoSMC	blood vessel:	n/a
11	chr22:33258777-33258827	HNPCEpiC	eye:	n/a
12	chr22:33258777-33258827	NT2-D1	testis:	n/a
13	chr22:33258777-33258827	MCF-7	breast:	n/a
14	chr22:33257641-33257691	HPAEpiC	pulmonary alveolar:	n/a
15	chr22:33258777-33258827	Hepatocyte	liver:	n/a
16	chr22:33257641-33257691	PFSK-1	brain:	n/a
17	chr22:33258777-33258827	GM19239	blood:	n/a
18	chr22:33258777-33258827	PFSK-1	brain:	n/a
19	chr22:33258777-33258827	NH-A	brain:	n/a
20	chr22:33258777-33258827	HIPEpiC	eye:	n/a
21	chr22:33258777-33258827	HEEpiC	esophagus:	n/a
22	chr22:33258777-33258827	AoSMC	blood vessel:	n/a
23	chr22:33257641-33257691	HL-60	blood:	n/a
24	chr22:33257641-33257691	PANC-1	pancreas:	n/a
25	chr22:33258777-33258827	ECC-1	luminal epithelium:	n/a
26	chr22:33257641-33257691	NH-A	brain:	n/a
27	chr22:33258777-33258827	HRPEpiC	eye:	n/a
28	chr22:33258777-33258827	AG10803	skin:	n/a
29	chr22:33257641-33257691	AG09309	skin:	n/a
30	chr22:33258777-33258827	HRE	kidney:	n/a
31	chr22:33258777-33258827	K562	blood:	n/a
32	chr22:33257641-33257691	NHBE	bronchial:	n/a
33	chr22:33257641-33257691	HNPCEpiC	eye:	n/a
34	chr22:33258777-33258827	AG09319	gingival:	n/a
35	chr22:33257641-33257691	CMK	blood:	n/a
36	chr22:33258777-33258827	HAEpiC	amniotic membrane:	n/a
37	chr22:33257641-33257691	NHDF-neo	bronchial:	n/a
38	chr22:33257641-33257691	HMEC	breast:	n/a
39	chr22:33257641-33257691	SK-N-SH_RA	brain:	n/a
40	chr22:33257641-33257691	GM12892	blood:	n/a
41	chr22:33257641-33257691	ovcar-3	ovarian:	n/a
42	chr22:33258777-33258827	GM12891	blood:	n/a
43	chr22:33257641-33257691	HepG2	liver:	n/a
44	chr22:33257641-33257691	A549	lung:	n/a
45	chr22:33258777-33258827	Jurkat	blood:	n/a
46	chr22:33257641-33257691	HRCEpiC	kidney:	n/a
47	chr22:33258777-33258827	NHDF-neo	bronchial:	n/a
48	chr22:33257641-33257691	HIPEpiC	eye:	n/a
49	chr22:33257641-33257691	HCM	heart:	n/a
50	chr22:33257641-33257691	T-47D	breast:	n/a

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	22:32846948-32860159..22:33262063-33266567	Hela-S3	cervix:
2	22:32920308-32927723..22:33247041-33253287	GM12878	blood:
3	22:31961151-31976153..22:33253287-33262063	K562	blood:
4	chr22:33196558..33199719-chr22:33257750..33262273,4	MCF-7	breast:
5	chr22:33258265..33260703-chr22:33277216..33279656,2	K562	blood:
6	chr22:33244019..33245716-chr22:33248681..33250493,2	MCF-7	breast:
7	chr22:33265719..33267942-chr22:33275448..33277147,2	K562	blood:
8	22:32012966-32043914..22:33247041-33253287	K562	blood:
9	22:32920308-32927723..22:33253287-33262063	Hela-S3	cervix:
10	22:33247041-33253287..22:33262063-33266567	GM12878	blood:
11	22:32868055-32872511..22:33253287-33262063	Hela-S3	cervix:
12	22:31936958-31958600..22:33262063-33266567	K562	blood:
13	chr22:33255086..33257693-chr22:33262193..33264201,2	K562	blood:
14	22:32915608-32918105..22:33247041-33253287	K562	blood:
15	22:32750950-32761732..22:33247041-33253287	Hela-S3	cervix:
16	22:32860159-32865649..22:33247041-33253287	Hela-S3	cervix:
17	chr22:33257978..33261996-chr22:33266633..33269916,3	K562	blood:
18	chr22:33252312..33253945-chr22:33277118..33278817,2	K562	blood:
19	22:31836635-31847259..22:33247041-33253287	GM12878	blood:
20	22:32544939-32549151..22:33253287-33262063	Hela-S3	cervix:
21	22:32764253-32784733..22:33247041-33253287	K562	blood:
22	22:32750950-32761732..22:33253287-33262063	Hela-S3	cervix:
23	chr22:33261940..33262596-chr6:3624645..3625439,2	K562	blood:
24	chr22:33257978..33261996-chr22:33266633..33269916,3	K562	blood:
25	chr22:33263420..33266410-chr22:33266667..33268483,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LARGE-8	chr22:33256006-33256421	NONHSAT084992

No data

(count:17 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	TIMP3	hsa-miR-1	chr22:33256490-33256511
2	TIMP3	hsa-miR-335-5p	chr22:33257042-33257065
3	TIMP3	hsa-miR-181b-5p	chr22:33258922-33258944
4	TIMP3	hsa-miR-21-5p	chr22:33257736-33257756
5	TIMP3	hsa-miR-21-5p	chr22:33257749-33257756
6	TIMP3	hsa-miR-221-3p	chr22:33257792-33257814
7	TIMP3	hsa-miR-181b-5p	chr22:33256154-33256176
8	TIMP3	hsa-miR-181b-5p	chr22:33258937-33258944
9	TIMP3	hsa-miR-21-5p	chr22:33256383-33256403
10	TIMP3	hsa-miR-124-3p	chr22:33258973-33258993
11	TIMP3	hsa-miR-1	chr22:33257120-33257126
12	TIMP3	hsa-miR-181b-5p	chr22:33258863-33258869
13	TIMP3	hsa-miR-21-5p	chr22:33256396-33256403
14	TIMP3	hsa-miR-222-3p	chr22:33257794-33257814
15	TIMP3	hsa-miR-1	chr22:33256504-33256511
16	TIMP3	hsa-miR-221-3p	chr22:33257807-33257813
17	TIMP3	hsa-miR-222-3p	chr22:33257807-33257813

Variant related genes	Relation type
SYN3	TF binding region
ENSG00000183531	TF binding region
SYN3	CpG island
ENSG00000183531	CpG island
ENSG00000100234	chromatin interactions
ENSG00000241954	chromatin interactions
ENSG00000128276	chromatin interactions
ENSG00000230736	chromatin interactions
ENSG00000184459	chromatin interactions
ENSG00000243519	chromatin interactions
ENSG00000241878	chromatin interactions
ENSG00000228793	chromatin interactions
ENSG00000232218	chromatin interactions
ENSG00000205853	chromatin interactions
ENSG00000205856	chromatin interactions
ENSG00000214093	chromatin interactions
ENSG00000100225	chromatin interactions
ENSG00000198089	chromatin interactions
ENSG00000184708	chromatin interactions
ENSG00000185666	chromatin interactions
ENSG00000183531	chromatin interactions
ENSG00000271093	chromatin interactions

Extended variants
information (count: 731 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:731 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184755546	chr22:33249137-33249138	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
2	rs565858209	chr22:33249181-33249182	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs28699635	chr22:33249212-33249213	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs190511146	chr22:33249267-33249268	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs12165359	chr22:33249271-33249272	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs574364733	chr22:33249289-33249290	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs536792088	chr22:33249292-33249293	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
8	rs556616045	chr22:33249293-33249294	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
9	rs577054476	chr22:33249294-33249295	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs546000256	chr22:33249303-33249304	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
11	rs60644079	chr22:33249307-33249308	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs573459422	chr22:33249330-33249331	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
13	rs193055300	chr22:33249345-33249346	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
14	rs561989715	chr22:33249348-33249349	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
15	rs530915953	chr22:33249412-33249413	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
16	rs551132019	chr22:33249416-33249417	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
17	rs564586685	chr22:33249452-33249453	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
18	rs533437981	chr22:33249467-33249468	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
19	rs73158354	chr22:33249611-33249612	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs147569920	chr22:33249617-33249618	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
21	rs76598436	chr22:33249703-33249704	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
22	rs149029069	chr22:33249714-33249715	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
23	rs548461272	chr22:33249752-33249753	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
24	rs567992116	chr22:33249780-33249781	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
25	rs71313142	chr22:33249839-33249840	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
26	rs556501489	chr22:33249853-33249854	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
27	rs933255	chr22:33249873-33249874	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs185415352	chr22:33249881-33249882	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
29	rs189944521	chr22:33249885-33249886	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
30	rs73158355	chr22:33249888-33249889	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs542188473	chr22:33249891-33249892	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs556011646	chr22:33249918-33249919	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs575816367	chr22:33249993-33249994	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs544638779	chr22:33250083-33250084	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
35	rs368208409	chr22:33250088-33250089	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
36	rs181422756	chr22:33250099-33250100	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
37	rs533474977	chr22:33250195-33250196	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
38	rs540722303	chr22:33250202-33250203	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
39	rs559329859	chr22:33250260-33250261	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
40	rs528267485	chr22:33250274-33250275	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
41	rs548222009	chr22:33250313-33250314	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
42	rs557015348	chr22:33250336-33250337	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
43	rs568357434	chr22:33250357-33250358	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
44	rs185518743	chr22:33250371-33250372	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
45	rs530686088	chr22:33250381-33250382	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
46	rs550161955	chr22:33250383-33250384	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
47	rs542861074	chr22:33250388-33250389	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
48	rs567369996	chr22:33250405-33250406	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
49	rs570071663	chr22:33250407-33250408	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
50	rs539195913	chr22:33250426-33250427	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
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
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
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Cancer	21183584	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	19521646	CNVD
Schizophrenia	18990708	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Hepatocellular carcinoma	16750200	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19384346	CNVD
Myelofibrosis	22110671	CNVD
muscular dystrophy type 1D	21248746	CNVD
Leukoplakia	24403051	CNVD
Ovarian neoplasms	16753589	CNVD
Deafness	17160897	CNVD
Bipolar disorder	19114987	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Carotid artery disease	17901377	CNVD

Chromatin state (count:395 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33222600-33258800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr22:33227000-33272400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr22:33227600-33249400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr22:33227800-33252200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr22:33227800-33253200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr22:33228000-33252200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr22:33228000-33252600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr22:33236200-33253800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr22:33236200-33259000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr22:33237400-33282200	Weak transcription	Fetal Brain Female	brain
11	chr22:33238400-33259200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr22:33241000-33252800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr22:33241400-33251400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr22:33241600-33251600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr22:33241600-33257800	Strong transcription	HepG2	liver
16	chr22:33241600-33258400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr22:33243200-33252800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr22:33243400-33257600	Weak transcription	Fetal Brain Male	brain
19	chr22:33243400-33260200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr22:33243600-33254000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr22:33243800-33252800	Weak transcription	Fetal Kidney	kidney
22	chr22:33243800-33255800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr22:33244000-33250200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr22:33244000-33250400	Weak transcription	NHEK	skin
25	chr22:33244200-33262000	Weak transcription	Brain Germinal Matrix	brain
26	chr22:33244400-33253600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr22:33244600-33249400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr22:33244600-33249600	Enhancers	Right Atrium	heart
29	chr22:33244600-33251800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr22:33244800-33249400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr22:33244800-33249400	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr22:33244800-33249600	Genic enhancers	Fetal Stomach	stomach
33	chr22:33244800-33257800	Strong transcription	NH-A	brain
34	chr22:33245000-33249200	Enhancers	Fetal Heart	heart
35	chr22:33245000-33251600	Strong transcription	Placenta Amnion	Placenta Amnion
36	chr22:33245000-33258800	Weak transcription	Pancreas	Pancrea
37	chr22:33245200-33249200	Enhancers	Brain Hippocampus Middle	brain
38	chr22:33245400-33249400	Enhancers	Ovary	ovary
39	chr22:33245400-33251400	Enhancers	Brain Substantia Nigra	brain
40	chr22:33245400-33251600	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr22:33245400-33251600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr22:33245400-33251800	Strong transcription	HMEC	breast
43	chr22:33245400-33258800	Strong transcription	HSMM	muscle
44	chr22:33245600-33249200	Genic enhancers	Fetal Muscle Trunk	muscle
45	chr22:33245600-33249800	Enhancers	Brain Angular Gyrus	brain
46	chr22:33245600-33251200	Enhancers	Brain Anterior Caudate	brain
47	chr22:33245600-33251400	Strong transcription	HSMMtube	muscle
48	chr22:33245600-33251600	Genic enhancers	Adipose Nuclei	Adipose
49	chr22:33245600-33265000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr22:33245800-33250200	Enhancers	Right Ventricle	heart

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