Variant report

Variant	esv3344633
Chromosome Location	chr22:29601102-29603000
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:354)
CpG islands
(count:490)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:354 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr22:29602255-29602337	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr22:29601604-29602148	GM12878	blood:	n/a	chr22:29601941-29601957 chr22:29601938-29601954
3	BHLHE40	chr22:29602067-29602341	K562	blood:	n/a	n/a
4	BHLHE40	chr22:29601418-29601614	K562	blood:	n/a	n/a
5	CBX3	chr22:29601251-29601604	K562	blood:	n/a	n/a
6	CCNT2	chr22:29601582-29602429	K562	blood:	n/a	chr22:29601689-29601698 chr22:29601818-29601827
7	CHD1	chr22:29601971-29602858	GM12878	blood:	n/a	chr22:29602142-29602149
8	CHD2	chr22:29602162-29602419	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD2	chr22:29601267-29601813	GM12878	blood:	n/a	chr22:29601687-29601697
10	CHD2	chr22:29602202-29602480	K562	blood:	n/a	n/a
11	CHD2	chr22:29602057-29602639	GM12878	blood:	n/a	chr22:29602142-29602149
12	CTCF	chr22:29602300-29602450	GM12866	blood:	n/a	n/a
13	CTCF	chr22:29602040-29602190	HBMEC	blood vessel:	n/a	n/a
14	CTCF	chr22:29601977-29602177	K562	blood:	n/a	chr22:29601991-29602004
15	CTCF	chr22:29602000-29602150	GM12873	blood:	n/a	n/a
16	CTCF	chr22:29602005-29602155	GM13977	blood:	n/a	n/a
17	CTCF	chr22:29602000-29602150	SAEC	small airway:	n/a	n/a
18	CTCF	chr22:29602540-29602690	HepG2	liver:	n/a	n/a
19	CTCF	chr22:29602000-29602150	HUVEC	blood vessel:	n/a	n/a
20	CTCF	chr22:29601980-29602130	GM12870	blood:	n/a	chr22:29601991-29602004
21	CTCF	chr22:29601660-29601810	NB4	blood:	n/a	n/a
22	CTCF	chr22:29601640-29601790	HEK293	kidney:	n/a	n/a
23	CTCF	chr22:29602040-29602190	HA-sp	spinal cord:	n/a	n/a
24	CTCF	chr22:29601640-29601790	GM12874	blood:	n/a	n/a
25	CTCF	chr22:29602060-29602210	GM12875	blood:	n/a	n/a
26	CTCF	chr22:29602000-29602150	HepG2	liver:	n/a	n/a
27	CTCF	chr22:29601980-29602130	NHDF-neo	bronchial:	n/a	chr22:29601991-29602004
28	CTCF	chr22:29601980-29602130	SK-N-SH_RA	brain:	n/a	chr22:29601991-29602004
29	CTCF	chr22:29601640-29601790	GM12875	blood:	n/a	n/a
30	CTCF	chr22:29601580-29601730	GM12866	blood:	n/a	n/a
31	CTCF	chr22:29602000-29602150	GM12867	blood:	n/a	n/a
32	CTCF	chr22:29601980-29602130	Caco-2	colon:	n/a	chr22:29601991-29602004
33	CTCF	chr22:29601616-29601854	GM19238	blood:	n/a	n/a
34	CTCF	chr22:29602000-29602150	GM12872	blood:	n/a	n/a
35	CTCF	chr22:29601947-29602198	GM12891	blood:	n/a	chr22:29601991-29602004
36	CTCF	chr22:29602000-29602150	HCPEpiC	choroid plexus:	n/a	n/a
37	CTCF	chr22:29602000-29602150	AG04449	skin:	n/a	n/a
38	CTCF	chr22:29602040-29602190	AG10803	skin:	n/a	n/a
39	CTCF	chr22:29601960-29602110	AoAF	blood vessel:	n/a	chr22:29601991-29602004
40	CTCF	chr22:29602600-29602750	AG04449	skin:	n/a	chr22:29602696-29602709
41	CTCF	chr22:29601660-29601810	GM12878	blood:	n/a	n/a
42	CTCF	chr22:29601992-29602147	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr22:29601973-29602184	MCF-7	breast:	n/a	chr22:29601991-29602004
44	CTCF	chr22:29601983-29602161	Gliobla	brain:	n/a	chr22:29601991-29602004
45	CTCF	chr22:29602000-29602150	WERI-Rb-1	eye:	n/a	n/a
46	CTCF	chr22:29601956-29602191	GM10266	blood:	n/a	chr22:29601991-29602004
47	CTCF	chr22:29601965-29602181	MCF-7	breast:	n/a	chr22:29601991-29602004
48	CTCF	chr22:29601908-29602215	K562	blood:	n/a	chr22:29601991-29602004
49	CTCF	chr22:29601720-29601780	MCF-7	breast:	n/a	n/a
50	CTCF	chr22:29601960-29602110	HEEpiC	esophagus:	n/a	chr22:29601991-29602004

(count:490 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:29601559-29601609	Jurkat	blood:	n/a
2	chr22:29602004-29602054	NH-A	brain:	n/a
3	chr22:29601559-29601609	Jurkat	blood:	n/a
4	chr22:29602004-29602054	NH-A	brain:	n/a
5	chr22:29601772-29601822	Jurkat	blood:	n/a
6	chr22:29601619-29601669	HRPEpiC	eye:	n/a
7	chr22:29601619-29601669	Caco-2	colon:	n/a
8	chr22:29601772-29601822	SKMC	muscle:	n/a
9	chr22:29601860-29601910	Hepatocyte	liver:	n/a
10	chr22:29602004-29602054	Jurkat	blood:	n/a
11	chr22:29601619-29601669	PrEC	prostate:	n/a
12	chr22:29601763-29601813	RPTEC	kidney:	n/a
13	chr22:29601860-29601910	ECC-1	luminal epithelium:	n/a
14	chr22:29602183-29602233	NH-A	brain:	n/a
15	chr22:29601763-29601813	HEK293	kidney:	embryo
16	chr22:29601860-29601910	HCT-116	colon:	n/a
17	chr22:29601619-29601669	ovcar-3	ovarian:	n/a
18	chr22:29602183-29602233	SK-N-MC	brain:	n/a
19	chr22:29601559-29601609	HRPEpiC	eye:	n/a
20	chr22:29601763-29601813	Hepatocyte	liver:	n/a
21	chr22:29601860-29601910	GM12878	blood:	n/a
22	chr22:29601862-29601912	NHBE	bronchial:	n/a
23	chr22:29601772-29601822	PFSK-1	brain:	n/a
24	chr22:29601860-29601910	HNPCEpiC	eye:	n/a
25	chr22:29601559-29601609	AG04450	lung:	fetal
26	chr22:29601763-29601813	HUVEC	blood vessel:	n/a
27	chr22:29601763-29601813	Caco-2	colon:	n/a
28	chr22:29602183-29602233	HepG2	liver:	n/a
29	chr22:29601559-29601609	HL-60	blood:	n/a
30	chr22:29602183-29602233	Caco-2	colon:	n/a
31	chr22:29601559-29601609	AG04449	skin:	fetal
32	chr22:29602004-29602054	HRPEpiC	eye:	n/a
33	chr22:29601860-29601910	PrEC	prostate:	n/a
34	chr22:29602004-29602054	H1-hESC	embryonic stem cell:	embryo
35	chr22:29601559-29601609	LNCaP	prostate:	n/a
36	chr22:29601559-29601609	ProgFib	skin:	n/a
37	chr22:29602183-29602233	AG04450	lung:	fetal
38	chr22:29601772-29601822	HUVEC	blood vessel:	n/a
39	chr22:29602004-29602054	U87	brain:	n/a
40	chr22:29601772-29601822	PANC-1	pancreas:	n/a
41	chr22:29601619-29601669	HCF	heart:	n/a
42	chr22:29602183-29602233	SAEC	small airway:	n/a
43	chr22:29601860-29601910	MCF-7	breast:	n/a
44	chr22:29601619-29601669	GM12892	blood:	n/a
45	chr22:29601862-29601912	HPAEpiC	pulmonary alveolar:	n/a
46	chr22:29601772-29601822	MCF10A-Er-Src	breast:	n/a
47	chr22:29601763-29601813	AG04450	lung:	fetal
48	chr22:29602183-29602233	HEK293	kidney:	embryo
49	chr22:29602004-29602054	HL-60	blood:	n/a
50	chr22:29601763-29601813	K562	blood:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:29602636..29604550-chr22:29611942..29613555,2	K562	blood:
2	chr22:29599772..29601516-chr22:29662820..29665325,2	K562	blood:
3	chr22:29601210..29603979-chr22:29627327..29629637,2	K562	blood:
4	chr22:29600704..29601509-chr22:29641190..29641939,2	MCF-7	breast:
5	chr13:60970151..60970804-chr22:29601495..29602051,2	HCT-116	colon:
6	chr22:29601873..29603950-chr22:29609240..29612185,2	MCF-7	breast:

No data

Variant related genes	Relation type
EMID1	TF binding region
EMID1	CpG island
ENSG00000186998	chromatin interactions
ENSG00000182944	chromatin interactions
ENSG00000083544	chromatin interactions
ENSG00000100263	chromatin interactions

Extended variants
information (count: 49 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532290973	chr22:29601120-29601121	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs132367	chr22:29601204-29601205	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs558276479	chr22:29601222-29601223	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs573111784	chr22:29601235-29601236	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs571575576	chr22:29601238-29601239	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs73882497	chr22:29601264-29601265	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs555722161	chr22:29601266-29601267	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs573819789	chr22:29601284-29601285	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs192561184	chr22:29601349-29601350	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs147762886	chr22:29601498-29601499	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs141883869	chr22:29601603-29601604	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs544737205	chr22:29601619-29601620	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs559792943	chr22:29601639-29601640	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs371569073	chr22:29601664-29601665	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs528680680	chr22:29601901-29601902	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs113919353	chr22:29601947-29601948	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs113297873	chr22:29601959-29601960	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs148143023	chr22:29602009-29602010	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs182925190	chr22:29602113-29602114	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs75684000	chr22:29602136-29602137	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs551105113	chr22:29602141-29602142	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs567715516	chr22:29602143-29602144	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs551256074	chr22:29602157-29602158	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs117544599	chr22:29602159-29602160	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs35390145	chr22:29602239-29602240	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs71196640	chr22:29602243-29602244	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs539807587	chr22:29602378-29602379	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs551935516	chr22:29602462-29602463	Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs566944329	chr22:29602477-29602478	Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs115528568	chr22:29602489-29602490	Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs117124635	chr22:29602492-29602493	Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs573883037	chr22:29602545-29602546	Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs567204397	chr22:29602604-29602605	Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs537791688	chr22:29602629-29602630	Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs141039121	chr22:29602648-29602649	Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs76235991	chr22:29602652-29602653	Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs544575495	chr22:29602689-29602690	Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs559829054	chr22:29602692-29602693	Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs543547424	chr22:29602697-29602698	Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs538940955	chr22:29602717-29602718	Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs559176275	chr22:29602781-29602782	Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs571765795	chr22:29602782-29602783	Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs538194312	chr22:29602786-29602787	Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs150231673	chr22:29602790-29602791	Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs562194000	chr22:29602877-29602878	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs73882498	chr22:29602919-29602920	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs6006059	chr22:29602922-29602923	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs132368	chr22:29602971-29602972	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs533387401	chr22:29602996-29602997	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
abnormal development	18461090	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	17322880	CNVD
Breast cancer	20409316	CNVD
Neurofibromatosis type 2	19566914	CNVD
Autism	19384346	CNVD

Chromatin state (count:391 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29596400-29601600	Enhancers	Spleen	Spleen
2	chr22:29597000-29601400	Enhancers	Fetal Thymus	thymus
3	chr22:29597800-29601400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr22:29597800-29601800	Flanking Active TSS	Dnd41	blood
5	chr22:29598400-29601600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr22:29598800-29601400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr22:29598800-29602000	Weak transcription	Brain Angular Gyrus	brain
8	chr22:29599000-29601200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr22:29599000-29601200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr22:29599000-29601400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr22:29599000-29601400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr22:29599000-29601400	Weak transcription	Liver	Liver
13	chr22:29599000-29601400	Weak transcription	Brain Hippocampus Middle	brain
14	chr22:29599000-29601400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr22:29599000-29601400	Weak transcription	Lung	lung
16	chr22:29599000-29601400	Weak transcription	NH-A	brain
17	chr22:29599000-29601600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr22:29599000-29601600	Weak transcription	Esophagus	oesophagus
19	chr22:29599000-29601600	Weak transcription	Left Ventricle	heart
20	chr22:29599000-29601600	Weak transcription	Right Atrium	heart
21	chr22:29599200-29601200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr22:29599200-29601400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr22:29599200-29602200	Weak transcription	Small Intestine	intestine
24	chr22:29599400-29601200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr22:29599400-29601400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr22:29599400-29601400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr22:29599400-29601600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr22:29599800-29601400	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr22:29600000-29601200	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr22:29600000-29601400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr22:29600200-29601400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr22:29600200-29601800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr22:29600200-29601800	Flanking Active TSS	GM12878-XiMat	blood
34	chr22:29600400-29601400	Flanking Active TSS	Fetal Brain Female	brain
35	chr22:29600400-29601600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr22:29600400-29601800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr22:29600400-29602000	Enhancers	Brain Substantia Nigra	brain
38	chr22:29600600-29601200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr22:29600600-29601400	Enhancers	Fetal Stomach	stomach
40	chr22:29600600-29601400	Bivalent Enhancer	HepG2	liver
41	chr22:29600600-29603600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr22:29600800-29601200	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr22:29600800-29601200	Enhancers	Colonic Mucosa	Colon
44	chr22:29600800-29601200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
45	chr22:29600800-29601200	Flanking Active TSS	Fetal Brain Male	brain
46	chr22:29600800-29601200	Weak transcription	Fetal Muscle Trunk	muscle
47	chr22:29600800-29601200	Weak transcription	Right Ventricle	heart
48	chr22:29600800-29601400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
49	chr22:29600800-29601400	Enhancers	Pancreas	Pancrea
50	chr22:29600800-29602000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood

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