Variant report

Variant	esv1816879
Chromosome Location	chr22:30096309-30126906
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:932)
CpG islands
(count:1223)
Chromatin interactive
region (count:32)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:932 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:30097434-30097985	HepG2	liver:	n/a	n/a
2	ARID3A	chr22:30112673-30113047	HepG2	liver:	n/a	n/a
3	ARID3A	chr22:30100619-30100836	HepG2	liver:	n/a	n/a
4	ATF3	chr22:30123277-30123446	K562	blood:	n/a	n/a
5	BACH1	chr22:30117117-30117164	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCL3	chr22:30101958-30102330	GM12878	blood:	n/a	n/a
7	BHLHE40	chr22:30122204-30122269	K562	blood:	n/a	n/a
8	BHLHE40	chr22:30112938-30112959	K562	blood:	n/a	n/a
9	BHLHE40	chr22:30123039-30123491	K562	blood:	n/a	chr22:30123301-30123317 chr22:30123298-30123314
10	CBX3	chr22:30122729-30123043	K562	blood:	n/a	n/a
11	CCNT2	chr22:30122115-30122354	K562	blood:	n/a	n/a
12	CEBPB	chr22:30120332-30120505	A549	lung:	n/a	chr22:30120448-30120459
13	CEBPB	chr22:30120297-30120612	HepG2	liver:	n/a	chr22:30120448-30120459
14	CEBPB	chr22:30112804-30113093	IMR90	lung:	n/a	n/a
15	CEBPB	chr22:30123279-30123521	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr22:30120445-30120468	IMR90	lung:	n/a	chr22:30120448-30120459
17	CEBPB	chr22:30112805-30112998	K562	blood:	n/a	n/a
18	CEBPB	chr22:30123242-30123551	H1-hESC	embryonic stem cell:	n/a	n/a
19	CEBPB	chr22:30112795-30113094	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr22:30123253-30123563	K562	blood:	n/a	n/a
21	CEBPB	chr22:30123189-30123587	MCF-7	breast:	n/a	n/a
22	CEBPB	chr22:30120413-30120592	Hela-S3	cervix:	n/a	chr22:30120448-30120459
23	CEBPB	chr22:30123245-30123541	IMR90	lung:	n/a	n/a
24	CEBPB	chr22:30120302-30120606	MCF-7	breast:	n/a	chr22:30120448-30120459
25	CEBPB	chr22:30112810-30112951	HepG2	liver:	n/a	n/a
26	CEBPB	chr22:30123286-30123530	A549	lung:	n/a	n/a
27	CEBPB	chr22:30106956-30107195	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr22:30099063-30099290	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPB	chr22:30123247-30123550	HepG2	liver:	n/a	n/a
30	CEBPB	chr22:30112775-30113097	HepG2	liver:	n/a	n/a
31	CEBPD	chr22:30123286-30123454	HepG2	liver:	n/a	n/a
32	CHD2	chr22:30106924-30107562	Hela-S3	cervix:	n/a	n/a
33	CHD2	chr22:30122854-30123003	K562	blood:	n/a	n/a
34	CHD2	chr22:30112908-30113057	HepG2	liver:	n/a	n/a
35	CHD2	chr22:30102501-30102765	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTBP2	chr22:30098635-30099768	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr22:30097380-30097530	NHEK	skin:	n/a	n/a
38	CTCF	chr22:30122983-30122986	GM12891	blood:	n/a	n/a
39	CTCF	chr22:30098320-30098470	HRPEpiC	eye:	n/a	n/a
40	CTCF	chr22:30097080-30097230	HCM	heart:	n/a	n/a
41	CTCF	chr22:30098375-30098377	LNCaP	prostate:	n/a	n/a
42	CTCF	chr22:30123296-30123435	Kidney_OC	kidney:	n/a	n/a
43	CTCF	chr22:30123240-30123390	HCT-116	colon:	n/a	n/a
44	CTCF	chr22:30097340-30097490	HepG2	liver:	n/a	n/a
45	CTCF	chr22:30097320-30097470	AG04449	skin:	n/a	n/a
46	CTCF	chr22:30119900-30120050	GM12873	blood:	n/a	n/a
47	CTCF	chr22:30097360-30097510	GM12873	blood:	n/a	n/a
48	CTCF	chr22:30098307-30098549	A549	lung:	n/a	chr22:30098464-30098473
49	CTCF	chr22:30097360-30097510	HCT-116	colon:	n/a	n/a
50	CTCF	chr22:30122840-30122990	BJ	skin:	n/a	n/a

(count:1223 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:30115348-30115398	SK-N-SH	brain:	n/a
2	chr22:30117148-30117198	GM12892	blood:	n/a
3	chr22:30117734-30117784	CMK	blood:	n/a
4	chr22:30115348-30115398	SK-N-SH	brain:	n/a
5	chr22:30117148-30117198	GM12892	blood:	n/a
6	chr22:30117734-30117784	CMK	blood:	n/a
7	chr22:30115203-30115253	IMR90	lung:	fetal
8	chr22:30125353-30125403	SK-N-MC	brain:	n/a
9	chr22:30112403-30112453	HCM	heart:	n/a
10	chr22:30117148-30117198	SK-N-SH	brain:	n/a
11	chr22:30116953-30117003	HPAEpiC	pulmonary alveolar:	n/a
12	chr22:30107178-30107228	MCF10A-Er-Src	breast:	n/a
13	chr22:30125642-30125692	HCPEpiC	choroid plexus:	n/a
14	chr22:30117159-30117209	RPTEC	kidney:	n/a
15	chr22:30119712-30119762	HMEC	breast:	n/a
16	chr22:30122327-30122377	PrEC	prostate:	n/a
17	chr22:30116037-30116087	NHBE	bronchial:	n/a
18	chr22:30125353-30125403	PFSK-1	brain:	n/a
19	chr22:30115348-30115398	HCT-116	colon:	n/a
20	chr22:30116037-30116087	H1-hESC	embryonic stem cell:	embryo
21	chr22:30116037-30116087	HIPEpiC	eye:	n/a
22	chr22:30125642-30125692	Caco-2	colon:	n/a
23	chr22:30119712-30119762	Hepatocyte	liver:	n/a
24	chr22:30112403-30112453	PANC-1	pancreas:	n/a
25	chr22:30119712-30119762	T-47D	breast:	n/a
26	chr22:30116919-30116969	AoSMC	blood vessel:	n/a
27	chr22:30116328-30116378	AoSMC	blood vessel:	n/a
28	chr22:30117734-30117784	HMEC	breast:	n/a
29	chr22:30117734-30117784	K562	blood:	n/a
30	chr22:30116037-30116087	T-47D	breast:	n/a
31	chr22:30125642-30125692	GM12892	blood:	n/a
32	chr22:30116319-30116369	Hela-S3	cervix:	n/a
33	chr22:30117148-30117198	ECC-1	luminal epithelium:	n/a
34	chr22:30117159-30117209	ProgFib	skin:	n/a
35	chr22:30116328-30116378	Jurkat	blood:	n/a
36	chr22:30116919-30116969	PANC-1	pancreas:	n/a
37	chr22:30115154-30115204	HRPEpiC	eye:	n/a
38	chr22:30112403-30112453	HRE	kidney:	n/a
39	chr22:30117148-30117198	HL-60	blood:	n/a
40	chr22:30116953-30117003	NB4	blood:	n/a
41	chr22:30115203-30115253	PFSK-1	brain:	n/a
42	chr22:30107178-30107228	GM12878	blood:	n/a
43	chr22:30117734-30117784	HCPEpiC	choroid plexus:	n/a
44	chr22:30115154-30115204	SAEC	small airway:	n/a
45	chr22:30125642-30125692	K562	blood:	n/a
46	chr22:30116953-30117003	SKMC	muscle:	n/a
47	chr22:30116953-30117003	RPTEC	kidney:	n/a
48	chr22:30117734-30117784	NB4	blood:	n/a
49	chr22:30122327-30122377	BE2_C	brain:	n/a
50	chr22:30125353-30125403	NHDF-neo	bronchial:	n/a

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30119899..30121884-chr22:30123778..30126684,2	MCF-7	breast:
2	chr22:30096975..30100180-chr22:30101896..30105574,4	K562	blood:
3	chr22:30118032..30120779-chr22:30154984..30156711,2	K562	blood:
4	chr22:30097693..30098380-chr22:30484799..30485447,2	MCF-7	breast:
5	chr22:30096968..30098760-chr22:30102459..30104662,3	MCF-7	breast:
6	chr22:30096975..30100180-chr22:30101896..30105574,4	K562	blood:
7	chr22:30103672..30106590-chr22:30107402..30109092,2	MCF-7	breast:
8	chr22:30091841..30093848-chr22:30094919..30097302,3	MCF-7	breast:
9	chr22:30119899..30121884-chr22:30123778..30126684,2	MCF-7	breast:
10	chr22:30101634..30103485-chr22:30110793..30113259,2	K562	blood:
11	chr22:30097362..30099278-chr22:30100636..30102663,2	K562	blood:
12	chr22:30126165..30128637-chr22:30161660..30163491,2	MCF-7	breast:
13	chr22:30103672..30106590-chr22:30107402..30109092,2	MCF-7	breast:
14	chr22:30086550..30091376-chr22:30091742..30099600,10	MCF-7	breast:
15	chr22:30123279..30125899-chr22:30126231..30128918,2	K562	blood:
16	chr22:30098089..30098947-chr22:30484640..30485526,4	MCF-7	breast:
17	chr22:30122754..30125379-chr22:30128810..30131334,3	MCF-7	breast:
18	chr22:30101634..30103485-chr22:30110793..30113259,2	K562	blood:
19	chr22:30097244..30097815-chr22:30485015..30485549,2	MCF-7	breast:
20	chr22:30091150..30094109-chr22:30098424..30101093,2	K562	blood:
21	chr22:30094321..30096563-chr22:30160914..30162763,2	MCF-7	breast:
22	chr22:30097300..30097855-chr22:30400940..30401466,2	K562	blood:
23	chr22:30114234..30116768-chr22:30120016..30122557,3	MCF-7	breast:
24	chr22:30096098..30098972-chr22:30384609..30387065,2	MCF-7	breast:
25	chr22:30117740..30119771-chr22:30165612..30167453,2	MCF-7	breast:
26	chr22:30126344..30127866-chr22:30201046..30202629,2	K562	blood:
27	chr22:30098350..30101826-chr22:30195223..30196896,3	MCF-7	breast:
28	chr22:30096968..30098760-chr22:30102459..30104662,3	MCF-7	breast:
29	chr22:30097362..30099278-chr22:30100636..30102663,2	K562	blood:
30	chr22:30123279..30125899-chr22:30126231..30128918,2	K562	blood:
31	chr22:30124714..30127862-chr22:30128538..30131492,3	K562	blood:
32	chr22:30120187..30123071-chr22:30140004..30142315,2	K562	blood:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZMAT5-1	chr22:30107809-30107906	XLOC_014338
2	lnc-ZMAT5-1	chr22:30115537-30115737	XLOC_014338
3	lnc-ZMAT5-1	chr22:30102120-30102223	XLOC_014338
4	lnc-ZMAT5-1	chr22:30115558-30115703	XLOC_014338
5	lnc-ZMAT5-1	chr22:30107802-30107984	XLOC_014338
6	lnc-ZMAT5-1	chr22:30101245-30101418	XLOC_014338
7	lnc-ZMAT5-1	chr22:30114214-30114787	NONHSAT084729
8	lnc-ZMAT5-1	chr22:30115537-30115756	NONHSAT084729
9	lnc-ZMAT5-1	chr22:30115537-30115848	XLOC_014338

No data

Variant related genes	Relation type
ENSG00000232396	TF binding region
ENSG00000239446	TF binding region
CABP7	TF binding region
ENSG00000232396	CpG island
ENSG00000239446	CpG island
CABP7	CpG island
ENSG00000232396	chromatin interactions
ENSG00000100325	chromatin interactions
ENSG00000100314	chromatin interactions
ENSG00000184076	chromatin interactions
ENSG00000239446	chromatin interactions
ENSG00000100319	chromatin interactions
NHLRC3	miRNA target sites
NID1	miRNA target sites

Extended variants
information (count: 1203 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1203 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28410410	chr22:30096310-30096311	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs116978637	chr22:30096363-30096364	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs373932668	chr22:30096371-30096372	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs529970783	chr22:30096383-30096384	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs569310678	chr22:30096385-30096386	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs539582514	chr22:30096389-30096390	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs551715630	chr22:30096392-30096393	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs374592692	chr22:30096404-30096405	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs376341579	chr22:30096406-30096407	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs186836263	chr22:30096422-30096423	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs555251762	chr22:30096443-30096444	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs573638493	chr22:30096543-30096544	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs144399091	chr22:30096549-30096550	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs115442143	chr22:30096554-30096555	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs144287960	chr22:30096691-30096692	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
16	rs577653794	chr22:30096710-30096711	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
17	rs146593720	chr22:30096779-30096780	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
18	rs560069570	chr22:30096784-30096785	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
19	rs2857629	chr22:30096874-30096875	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs2527341	chr22:30096914-30096915	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs190584631	chr22:30096920-30096921	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs141304207	chr22:30096961-30096962	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs150210613	chr22:30096970-30096971	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs59422664	chr22:30097020-30097021	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs533437419	chr22:30097021-30097022	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551587433	chr22:30097026-30097027	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs2530681	chr22:30097039-30097040	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs543247047	chr22:30097042-30097043	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs56274114	chr22:30097062-30097063	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs564593262	chr22:30097069-30097070	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs377363953	chr22:30097090-30097091	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs567201944	chr22:30097107-30097108	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537787528	chr22:30097133-30097134	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556290581	chr22:30097171-30097172	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556793573	chr22:30097213-30097214	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs34986380	chr22:30097257-30097258	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs9614030	chr22:30097258-30097259	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs538683703	chr22:30097266-30097267	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs553892833	chr22:30097330-30097331	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572214779	chr22:30097347-30097348	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542620833	chr22:30097355-30097356	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554637466	chr22:30097361-30097362	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs182973437	chr22:30097391-30097392	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs186938667	chr22:30097408-30097409	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
45	rs563051947	chr22:30097422-30097423	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
46	rs533370189	chr22:30097486-30097487	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs77415593	chr22:30097527-30097528	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs372675324	chr22:30097539-30097540	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs560211095	chr22:30097543-30097544	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
50	rs527809922	chr22:30097626-30097627	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
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
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	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
Acute myeloid leukemia	21251322	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Medullary thyroid carcinoma	18765511	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
Gastrointestinal stromal cancer	20877625	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	17322880	CNVD
Breast cancer	20409316	CNVD
Neurofibromatosis type 2	19566914	CNVD
Autism	19384346	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:1062 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30020800-30097000	Weak transcription	Stomach Mucosa	stomach
2	chr22:30075400-30097400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr22:30076800-30096400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr22:30077800-30096400	Weak transcription	Small Intestine	intestine
5	chr22:30079600-30097000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr22:30079600-30097400	Weak transcription	Hela-S3	cervix
7	chr22:30080000-30097000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr22:30080200-30098800	Weak transcription	GM12878-XiMat	blood
9	chr22:30081000-30096400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr22:30081200-30096400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr22:30086400-30096600	Weak transcription	NHDF-Ad	bronchial
12	chr22:30086600-30098000	Weak transcription	Colon Smooth Muscle	Colon
13	chr22:30087000-30098400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr22:30088200-30096400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr22:30088200-30096800	Weak transcription	K562	blood
16	chr22:30088400-30096400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr22:30089000-30096800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr22:30089600-30098200	Weak transcription	Right Atrium	heart
19	chr22:30090400-30096400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr22:30090400-30096600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr22:30090600-30097000	Weak transcription	HepG2	liver
22	chr22:30090800-30096400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr22:30090800-30097400	Weak transcription	Primary B cells from cord blood	blood
24	chr22:30091600-30097200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr22:30092000-30096400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr22:30092000-30096400	Weak transcription	Colonic Mucosa	Colon
27	chr22:30092000-30096400	Weak transcription	Right Ventricle	heart
28	chr22:30092000-30096400	Weak transcription	NHEK	skin
29	chr22:30092000-30096800	Weak transcription	Esophagus	oesophagus
30	chr22:30092000-30096800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr22:30092000-30097400	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr22:30092200-30096600	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr22:30092200-30096800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr22:30092400-30096400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr22:30092600-30096800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr22:30092600-30098200	Weak transcription	Liver	Liver
37	chr22:30092800-30096800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr22:30092800-30097000	Weak transcription	HUVEC	blood vessel
39	chr22:30092800-30097200	Weak transcription	Placenta	Placenta
40	chr22:30092800-30097200	Weak transcription	Left Ventricle	heart
41	chr22:30093000-30099400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr22:30093200-30097000	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr22:30093400-30096400	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr22:30093400-30096400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr22:30093600-30096400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr22:30093600-30096800	Weak transcription	Primary B cells from peripheral blood	blood
47	chr22:30093800-30099200	Weak transcription	Aorta	Aorta
48	chr22:30094000-30096400	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr22:30094000-30096400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr22:30094000-30097000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links