Variant report

Variant	esv3361521
Chromosome Location	chr22:22220802-22222950
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:735)
CpG islands
(count:795)
Chromatin interactive
region (count:38)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:735 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:22220674-22221357	K562	blood:	n/a	n/a
2	ARID3A	chr22:22221791-22222719	K562	blood:	n/a	n/a
3	ARID3A	chr22:22222097-22222479	HepG2	liver:	n/a	n/a
4	ATF2	chr22:22221953-22222625	GM12878	blood:	n/a	n/a
5	ATF2	chr22:22221928-22222747	GM12878	blood:	n/a	n/a
6	ATF3	chr22:22221953-22222233	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF3	chr22:22222026-22222264	HepG2	liver:	n/a	n/a
8	ATF3	chr22:22220937-22222709	K562	blood:	n/a	n/a
9	BACH1	chr22:22222001-22222293	H1-hESC	embryonic stem cell:	n/a	n/a
10	BATF	chr22:22221965-22222642	GM12878	blood:	n/a	n/a
11	BATF	chr22:22222249-22222600	GM12878	blood:	n/a	n/a
12	BCL11A	chr22:22221959-22222632	GM12878	blood:	n/a	chr22:22222321-22222334
13	BCLAF1	chr22:22221978-22222672	GM12878	blood:	n/a	chr22:22222321-22222334
14	BCLAF1	chr22:22222006-22222741	GM12878	blood:	n/a	chr22:22222321-22222334
15	BHLHE40	chr22:22221934-22222242	HepG2	liver:	n/a	chr22:22222122-22222131
16	BHLHE40	chr22:22220190-22222725	K562	blood:	n/a	chr22:22221836-22221852 chr22:22221822-22221838 chr22:22222122-22222131
17	BHLHE40	chr22:22221968-22222315	A549	lung:	n/a	chr22:22222122-22222131
18	BHLHE40	chr22:22221869-22222472	HepG2	liver:	n/a	chr22:22222122-22222131
19	BHLHE40	chr22:22221958-22222239	HepG2	liver:	n/a	chr22:22222122-22222131
20	BHLHE40	chr22:22222948-22223445	K562	blood:	n/a	n/a
21	BHLHE40	chr22:22221583-22222731	GM12878	blood:	n/a	chr22:22221836-22221852 chr22:22221822-22221838 chr22:22222122-22222131
22	BRCA1	chr22:22221979-22222287	Hela-S3	cervix:	n/a	n/a
23	BRCA1	chr22:22222099-22222484	GM12878	blood:	n/a	n/a
24	BRCA1	chr22:22221283-22221369	GM12878	blood:	n/a	n/a
25	CBX3	chr22:22219938-22223773	K562	blood:	n/a	n/a
26	CBX3	chr22:22221683-22222815	K562	blood:	n/a	n/a
27	CCNT2	chr22:22220906-22222721	K562	blood:	n/a	chr22:22221279-22221288
28	CEBPB	chr22:22222918-22223266	K562	blood:	n/a	n/a
29	CEBPB	chr22:22222083-22222726	GM12878	blood:	n/a	n/a
30	CEBPB	chr22:22221728-22224104	K562	blood:	n/a	n/a
31	CEBPD	chr22:22221715-22222312	HepG2	liver:	n/a	n/a
32	CEBPD	chr22:22221948-22222178	HepG2	liver:	n/a	n/a
33	CEBPD	chr22:22218700-22222831	K562	blood:	n/a	n/a
34	CEBPD	chr22:22218757-22223522	K562	blood:	n/a	n/a
35	CHD1	chr22:22220564-22222793	IMR90	lung:	n/a	n/a
36	CHD1	chr22:22221809-22221899	H1-hESC	embryonic stem cell:	n/a	n/a
37	CHD1	chr22:22220985-22222646	GM12878	blood:	n/a	n/a
38	CHD1	chr22:22220652-22221523	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD2	chr22:22221834-22222431	HepG2	liver:	n/a	n/a
40	CHD2	chr22:22221115-22221211	HepG2	liver:	n/a	n/a
41	CHD2	chr22:22221387-22222363	Hela-S3	cervix:	n/a	n/a
42	CHD2	chr22:22221732-22222650	GM12878	blood:	n/a	n/a
43	CHD2	chr22:22221738-22222638	K562	blood:	n/a	n/a
44	CHD2	chr22:22221464-22221511	GM12878	blood:	n/a	n/a
45	CHD2	chr22:22221937-22222521	H1-hESC	embryonic stem cell:	n/a	n/a
46	CREB1	chr22:22221824-22222423	H1-hESC	embryonic stem cell:	n/a	n/a
47	CREB1	chr22:22221514-22222410	A549	lung:	n/a	n/a
48	CREB1	chr22:22221611-22222569	HepG2	liver:	n/a	n/a
49	CREB1	chr22:22221724-22222424	H1-hESC	embryonic stem cell:	n/a	n/a
50	CREB1	chr22:22221682-22222740	GM12878	blood:	n/a	n/a

(count:795 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:22222048-22222098	GM12878	blood:	n/a
2	chr22:22221056-22221106	SKMC	muscle:	n/a
3	chr22:22222048-22222098	GM12878	blood:	n/a
4	chr22:22221056-22221106	SKMC	muscle:	n/a
5	chr22:22222030-22222080	NHDF-neo	bronchial:	n/a
6	chr22:22222305-22222355	HEK293	kidney:	embryo
7	chr22:22222305-22222355	SK-N-SH_RA	brain:	n/a
8	chr22:22222162-22222212	SK-N-SH	brain:	n/a
9	chr22:22221878-22221928	MCF10A-Er-Src	breast:	n/a
10	chr22:22222030-22222080	LNCaP	prostate:	n/a
11	chr22:22222305-22222355	HRCEpiC	kidney:	n/a
12	chr22:22222305-22222355	AG09309	skin:	n/a
13	chr22:22222323-22222373	ECC-1	luminal epithelium:	n/a
14	chr22:22222048-22222098	AG04449	skin:	fetal
15	chr22:22222030-22222080	ovcar-3	ovarian:	n/a
16	chr22:22222040-22222090	HPAEpiC	pulmonary alveolar:	n/a
17	chr22:22222040-22222090	ovcar-3	ovarian:	n/a
18	chr22:22222162-22222212	GM19239	blood:	n/a
19	chr22:22222597-22222647	PFSK-1	brain:	n/a
20	chr22:22221599-22221649	GM12892	blood:	n/a
21	chr22:22222597-22222647	HEEpiC	esophagus:	n/a
22	chr22:22221599-22221649	ECC-1	luminal epithelium:	n/a
23	chr22:22222030-22222080	AG09319	gingival:	n/a
24	chr22:22222030-22222080	HEEpiC	esophagus:	n/a
25	chr22:22221878-22221928	H1-hESC	embryonic stem cell:	embryo
26	chr22:22222597-22222647	HL-60	blood:	n/a
27	chr22:22221599-22221649	U87	brain:	n/a
28	chr22:22222323-22222373	BJ	skin:	n/a
29	chr22:22221599-22221649	AoSMC	blood vessel:	n/a
30	chr22:22221056-22221106	SK-N-SH	brain:	n/a
31	chr22:22222597-22222647	ECC-1	luminal epithelium:	n/a
32	chr22:22222597-22222647	ProgFib	skin:	n/a
33	chr22:22222305-22222355	Jurkat	blood:	n/a
34	chr22:22222162-22222212	HCT-116	colon:	n/a
35	chr22:22222040-22222090	GM12878	blood:	n/a
36	chr22:22222305-22222355	HUVEC	blood vessel:	n/a
37	chr22:22222048-22222098	PANC-1	pancreas:	n/a
38	chr22:22222040-22222090	NHDF-neo	bronchial:	n/a
39	chr22:22222040-22222090	NB4	blood:	n/a
40	chr22:22221599-22221649	RPTEC	kidney:	n/a
41	chr22:22221878-22221928	SAEC	small airway:	n/a
42	chr22:22222162-22222212	HEEpiC	esophagus:	n/a
43	chr22:22222028-22222078	HEEpiC	esophagus:	n/a
44	chr22:22222048-22222098	Jurkat	blood:	n/a
45	chr22:22221056-22221106	HMEC	breast:	n/a
46	chr22:22221056-22221106	HUVEC	blood vessel:	n/a
47	chr22:22222323-22222373	K562	blood:	n/a
48	chr22:22222030-22222080	SKMC	muscle:	n/a
49	chr22:22222597-22222647	MCF10A-Er-Src	breast:	n/a
50	chr22:22222048-22222098	NB4	blood:	n/a

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:22222052..22225608-chr22:22280973..22283949,4	K562	blood:
2	chr22:22221402..22223173-chr22:22398013..22400687,2	K562	blood:
3	chr22:22038236..22040756-chr22:22220216..22222541,2	K562	blood:
4	chr2:27994281..27994969-chr22:22221649..22222579,2	HCT-116	colon:
5	chr14:103058761..103059479-chr22:22221371..22222345,2	HCT-116	colon:
6	chr22:22131580..22133092-chr22:22219677..22221609,2	MCF-7	breast:
7	chr22:22219546..22221587-chr22:22300415..22302914,3	K562	blood:
8	chr22:22122532..22126168-chr22:22220788..22223701,4	K562	blood:
9	chr22:22218169..22225151-chr22:22299036..22308632,16	K562	blood:
10	chr22:22218339..22225021-chr22:22291070..22294784,16	K562	blood:
11	chr22:22089287..22091003-chr22:22220400..22222429,2	MCF-7	breast:
12	chr22:22222094..22224055-chr22:22260389..22262322,2	K562	blood:
13	chr22:22018793..22021806-chr22:22220364..22223026,4	K562	blood:
14	chr22:22145076..22147580-chr22:22220741..22222619,2	K562	blood:
15	chr22:22222501..22224527-chr22:22339933..22342358,2	K562	blood:
16	chr22:22221197..22223179-chr22:22279633..22282369,2	K562	blood:
17	chr22:22219525..22222944-chr22:22304293..22307333,4	K562	blood:
18	chr22:22220823..22223520-chr22:22318773..22322069,3	K562	blood:
19	chr22:22221148..22221961-chr22:22292763..22293453,2	K562	blood:
20	chr22:22051706..22055325-chr22:22218845..22220883,3	K562	blood:
21	chr21:43430126..43430688-chr22:22221929..22222579,2	Hela-S3	cervix:
22	chr22:22220380..22222469-chr22:22899146..22901372,2	K562	blood:
23	chr22:22018793..22022039-chr22:22220476..22224115,4	K562	blood:
24	chr22:22122532..22127617-chr22:22219162..22223701,7	K562	blood:
25	chr22:22195671..22198608-chr22:22219400..22221487,2	MCF-7	breast:
26	chr22:22088248..22093129-chr22:22216287..22223699,14	K562	blood:
27	chr22:22221437..22223165-chr22:22335243..22337233,2	K562	blood:
28	chr16:84538077..84538699-chr22:22222028..22222529,2	HCT-116	colon:
29	chr22:22219761..22223642-chr22:22333943..22337946,5	K562	blood:
30	chr22:22219487..22221204-chr22:22258463..22261440,2	K562	blood:
31	chr22:21982548..21988468-chr22:22219240..22225195,10	K562	blood:
32	chr22:22220713..22222997-chr22:22291482..22294607,4	MCF-7	breast:
33	chr22:22088248..22091848-chr22:22218236..22223530,12	K562	blood:
34	chr22:21985943..21988468-chr22:22221482..22223283,2	K562	blood:
35	chr22:22218324..22226656-chr22:22285349..22295547,26	K562	blood:
36	chr22:22222543..22224623-chr22:22247258..22248880,2	K562	blood:
37	chr22:21979671..21985739-chr22:22220007..22225195,6	K562	blood:
38	chr22:22220969..22223712-chr22:22898526..22900646,2	K562	blood:

No data

Variant related genes	Relation type
MAPK1	TF binding region
MAPK1	CpG island
ENSG00000140950	chromatin interactions
ENSG00000197549	chromatin interactions
ENSG00000185686	chromatin interactions
ENSG00000173276	chromatin interactions
ENSG00000089902	chromatin interactions
ENSG00000224086	chromatin interactions
ENSG00000100034	chromatin interactions
ENSG00000100027	chromatin interactions
ENSG00000100038	chromatin interactions
ENSG00000161179	chromatin interactions
ENSG00000253794	chromatin interactions
ENSG00000200985	chromatin interactions
ENSG00000100030	chromatin interactions
ENSG00000243147	chromatin interactions
ENSG00000161180	chromatin interactions
ENSG00000100023	chromatin interactions

Extended variants
information (count: 75 )
Associated
traits (count: 212 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5755745	chr22:22220816-22220817	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539867020	chr22:22220836-22220837	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs200801714	chr22:22220875-22220876	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
4	rs550403740	chr22:22220876-22220877	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
5	rs35318935	chr22:22220877-22220878	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
6	rs191010047	chr22:22220883-22220884	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
7	rs61762568	chr22:22220885-22220886	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
8	rs558433671	chr22:22220944-22220945	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
9	rs568649890	chr22:22220958-22220959	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
10	rs144984919	chr22:22220980-22220981	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
11	rs149089322	chr22:22221014-22221015	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
12	rs182329664	chr22:22221059-22221060	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
13	rs536105402	chr22:22221098-22221099	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
14	rs574110844	chr22:22221101-22221102	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
15	rs570314751	chr22:22221106-22221107	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
16	rs9610500	chr22:22221167-22221168	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs559769502	chr22:22221188-22221189	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
18	rs528699802	chr22:22221196-22221197	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
19	rs551964024	chr22:22221197-22221198	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
20	rs368615173	chr22:22221244-22221245	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
21	rs565616370	chr22:22221276-22221277	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
22	rs531229082	chr22:22221284-22221285	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
23	rs73386262	chr22:22221291-22221292	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs567136444	chr22:22221340-22221341	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
25	rs536210667	chr22:22221343-22221344	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
26	rs146018499	chr22:22221353-22221354	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
27	rs5999869	chr22:22221383-22221384	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
28	rs566186008	chr22:22221492-22221493	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
29	rs61762567	chr22:22221513-22221514	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
30	rs9610504	chr22:22221530-22221531	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs575187481	chr22:22221550-22221551	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
32	rs537732321	chr22:22221586-22221587	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
33	rs554812089	chr22:22221589-22221590	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
34	rs201495639	chr22:22221623-22221624	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
35	rs371775936	chr22:22221647-22221648	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
36	rs200497005	chr22:22221680-22221681	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
37	rs553199484	chr22:22221786-22221787	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
38	rs61762566	chr22:22221857-22221858	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
39	rs61762565	chr22:22221859-22221860	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
40	rs55832012	chr22:22221976-22221977	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
41	rs370262137	chr22:22222026-22222027	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
42	rs544594554	chr22:22222047-22222048	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
43	rs561600932	chr22:22222056-22222057	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
44	rs9610505	chr22:22222103-22222104	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs191812887	chr22:22222111-22222112	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
46	rs373211834	chr22:22222140-22222141	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
47	rs566272438	chr22:22222157-22222158	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
48	rs532054606	chr22:22222195-22222196	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
49	rs551986037	chr22:22222291-22222292	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
50	rs9607340	chr22:22222320-22222321	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:212)

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

Chromatin state (count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22212000-22221000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr22:22218800-22221000	Transcr. at gene 5' and 3'	K562	blood
3	chr22:22219000-22221000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr22:22219000-22221200	Active TSS	Right Atrium	heart
5	chr22:22219200-22221000	Flanking Active TSS	Primary T cells from cord blood	blood
6	chr22:22219200-22221400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr22:22219200-22222600	Active TSS	Aorta	Aorta
8	chr22:22219400-22223000	Active TSS	H9 Cell Line	embryonic stem cell
9	chr22:22219400-22223000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr22:22219600-22221200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr22:22219600-22221400	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr22:22219600-22222000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr22:22219600-22222200	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr22:22219600-22222200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr22:22219600-22222400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr22:22219600-22222600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr22:22219600-22222800	Active TSS	HSMM	muscle
18	chr22:22219800-22221000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr22:22219800-22222200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr22:22219800-22222400	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr22:22219800-22222400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr22:22219800-22222400	Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr22:22219800-22222400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr22:22219800-22222400	Active TSS	Brain Angular Gyrus	brain
25	chr22:22219800-22222400	Active TSS	HSMMtube	muscle
26	chr22:22219800-22222400	Active TSS	NH-A	brain
27	chr22:22219800-22222800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr22:22219800-22222800	Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr22:22219800-22223200	Active TSS	Brain Hippocampus Middle	brain
30	chr22:22220000-22221000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr22:22220000-22221000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr22:22220000-22221400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr22:22220000-22221400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr22:22220000-22221400	Flanking Active TSS	Adipose Nuclei	Adipose
35	chr22:22220000-22222200	Active TSS	NHLF	lung
36	chr22:22220000-22222400	Active TSS	Colonic Mucosa	Colon
37	chr22:22220000-22222400	Active TSS	Fetal Kidney	kidney
38	chr22:22220000-22222400	Active TSS	Rectal Mucosa Donor 31	rectum
39	chr22:22220000-22222600	Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr22:22220000-22222600	Active TSS	Ovary	ovary
41	chr22:22220200-22221000	Flanking Active TSS	Primary B cells from peripheral blood	blood
42	chr22:22220200-22221000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr22:22220200-22221000	Flanking Active TSS	Liver	Liver
44	chr22:22220200-22221400	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr22:22220200-22221600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr22:22220200-22222200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr22:22220200-22222200	Active TSS	Placenta	Placenta
48	chr22:22220200-22222200	Active TSS	HMEC	breast
49	chr22:22220200-22222200	Active TSS	HUVEC	blood vessel
50	chr22:22220200-22222400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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