Variant report

Variant	esv3438902
Chromosome Location	chr2:97425450-97427998
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:714)
CpG islands
(count:1039)
Chromatin interactive
region (count:33)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:714 , 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	chr2:97426875-97427151	HepG2	liver:	n/a	n/a
2	BACH1	chr2:97426760-97427065	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr2:97426202-97426516	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL3	chr2:97426561-97426955	GM12878	blood:	n/a	n/a
5	BCL3	chr2:97425841-97426532	A549	lung:	n/a	chr2:97426481-97426490 chr2:97426435-97426444 chr2:97426480-97426493
6	BCLAF1	chr2:97426575-97427044	GM12878	blood:	n/a	n/a
7	BHLHE40	chr2:97426009-97427122	HepG2	liver:	n/a	n/a
8	BHLHE40	chr2:97426169-97427171	GM12878	blood:	n/a	n/a
9	BHLHE40	chr2:97426177-97427597	K562	blood:	n/a	n/a
10	BRCA1	chr2:97425874-97425942	HepG2	liver:	n/a	n/a
11	BRCA1	chr2:97426312-97426608	Hela-S3	cervix:	n/a	n/a
12	BRCA1	chr2:97426160-97426581	H1-hESC	embryonic stem cell:	n/a	n/a
13	BRCA1	chr2:97426354-97426552	GM12878	blood:	n/a	n/a
14	BRCA1	chr2:97426198-97426567	HepG2	liver:	n/a	n/a
15	CBX3	chr2:97426668-97427344	K562	blood:	n/a	n/a
16	CBX3	chr2:97426226-97426573	K562	blood:	n/a	n/a
17	CCNT2	chr2:97426291-97427496	K562	blood:	n/a	chr2:97426548-97426557
18	CEBPB	chr2:97426813-97427003	H1-hESC	embryonic stem cell:	n/a	n/a
19	CEBPB	chr2:97426313-97427000	Hela-S3	cervix:	n/a	n/a
20	CEBPB	chr2:97427023-97427104	HepG2	liver:	n/a	n/a
21	CEBPD	chr2:97426504-97426788	HepG2	liver:	n/a	n/a
22	CEBPD	chr2:97426370-97426930	HepG2	liver:	n/a	n/a
23	CHD1	chr2:97426342-97427410	GM12878	blood:	n/a	n/a
24	CHD1	chr2:97426958-97426983	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD2	chr2:97426291-97426633	K562	blood:	n/a	n/a
26	CHD2	chr2:97426890-97427170	K562	blood:	n/a	n/a
27	CHD2	chr2:97426281-97427067	HepG2	liver:	n/a	n/a
28	CHD2	chr2:97426245-97426878	Hela-S3	cervix:	n/a	n/a
29	CHD2	chr2:97426047-97427090	GM12878	blood:	n/a	n/a
30	CHD2	chr2:97426170-97427070	H1-hESC	embryonic stem cell:	n/a	n/a
31	CREB1	chr2:97426275-97426906	A549	lung:	n/a	n/a
32	CTCF	chr2:97426200-97426350	HBMEC	blood vessel:	n/a	n/a
33	CTCF	chr2:97426320-97426470	A549	lung:	n/a	n/a
34	CTCF	chr2:97426400-97426550	AG04450	lung:	n/a	n/a
35	CTCF	chr2:97426820-97426970	HCFaa	heart:	n/a	n/a
36	CTCF	chr2:97426235-97427148	K562	blood:	n/a	n/a
37	CTCF	chr2:97426700-97426850	HRPEpiC	eye:	n/a	n/a
38	CTCF	chr2:97426720-97426870	NB4	blood:	n/a	n/a
39	CTCF	chr2:97426300-97426450	HEEpiC	esophagus:	n/a	n/a
40	CTCF	chr2:97426360-97426510	GM12875	blood:	n/a	n/a
41	CTCF	chr2:97426665-97426902	SK-N-SH_RA	brain:	n/a	n/a
42	CTCF	chr2:97426270-97427079	GM12878	blood:	n/a	n/a
43	CTCF	chr2:97426353-97426569	GM19240	blood:	n/a	n/a
44	CTCF	chr2:97426420-97426570	HCPEpiC	choroid plexus:	n/a	n/a
45	CTCF	chr2:97426400-97426550	WERI-Rb-1	eye:	n/a	n/a
46	CTCF	chr2:97426720-97426870	HA-sp	spinal cord:	n/a	n/a
47	CTCF	chr2:97426780-97426930	HUVEC	blood vessel:	n/a	n/a
48	CTCF	chr2:97427280-97427430	Caco-2	colon:	n/a	n/a
49	CTCF	chr2:97426682-97426994	Fibrobl	skin:	n/a	n/a
50	CTCF	chr2:97426760-97426910	GM12875	blood:	n/a	n/a

(count:1039 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:97426602-97426652	SK-N-SH_RA	brain:	n/a
2	chr2:97427033-97427083	PANC-1	pancreas:	n/a
3	chr2:97426602-97426652	SK-N-SH_RA	brain:	n/a
4	chr2:97427033-97427083	PANC-1	pancreas:	n/a
5	chr2:97427445-97427495	SKMC	muscle:	n/a
6	chr2:97426478-97426528	HIPEpiC	eye:	n/a
7	chr2:97426488-97426538	RPTEC	kidney:	n/a
8	chr2:97426921-97426971	MCF10A-Er-Src	breast:	n/a
9	chr2:97426370-97426420	SK-N-SH_RA	brain:	n/a
10	chr2:97427975-97428025	SK-N-SH	brain:	n/a
11	chr2:97427102-97427152	HRPEpiC	eye:	n/a
12	chr2:97426478-97426528	NHBE	bronchial:	n/a
13	chr2:97427445-97427495	ovcar-3	ovarian:	n/a
14	chr2:97426488-97426538	HEEpiC	esophagus:	n/a
15	chr2:97427895-97427945	AG04450	lung:	fetal
16	chr2:97426488-97426538	LNCaP	prostate:	n/a
17	chr2:97426488-97426538	HIPEpiC	eye:	n/a
18	chr2:97426478-97426528	AG04450	lung:	fetal
19	chr2:97427975-97428025	ovcar-3	ovarian:	n/a
20	chr2:97426598-97426648	HEK293	kidney:	embryo
21	chr2:97426598-97426648	SK-N-SH	brain:	n/a
22	chr2:97426627-97426677	NT2-D1	testis:	n/a
23	chr2:97426158-97426208	AG09309	skin:	n/a
24	chr2:97427033-97427083	HRE	kidney:	n/a
25	chr2:97427027-97427077	AG04450	lung:	fetal
26	chr2:97426602-97426652	AG09309	skin:	n/a
27	chr2:97426598-97426648	HCM	heart:	n/a
28	chr2:97427895-97427945	MCF-7	breast:	n/a
29	chr2:97427895-97427945	NHBE	bronchial:	n/a
30	chr2:97426370-97426420	AG04449	skin:	fetal
31	chr2:97426370-97426420	ovcar-3	ovarian:	n/a
32	chr2:97427027-97427077	AG10803	skin:	n/a
33	chr2:97427975-97428025	K562	blood:	n/a
34	chr2:97426370-97426420	BJ	skin:	n/a
35	chr2:97427033-97427083	HEK293	kidney:	embryo
36	chr2:97426598-97426648	BJ	skin:	n/a
37	chr2:97426598-97426648	CMK	blood:	n/a
38	chr2:97426485-97426535	IMR90	lung:	fetal
39	chr2:97427033-97427083	H1-hESC	embryonic stem cell:	embryo
40	chr2:97426602-97426652	HRE	kidney:	n/a
41	chr2:97426598-97426648	K562	blood:	n/a
42	chr2:97426274-97426324	A549	lung:	n/a
43	chr2:97426921-97426971	HRE	kidney:	n/a
44	chr2:97426627-97426677	ovcar-3	ovarian:	n/a
45	chr2:97426921-97426971	K562	blood:	n/a
46	chr2:97426485-97426535	MCF10A-Er-Src	breast:	n/a
47	chr2:97427102-97427152	HL-60	blood:	n/a
48	chr2:97427895-97427945	IMR90	lung:	fetal
49	chr2:97427445-97427495	NHDF-neo	bronchial:	n/a
50	chr2:97426370-97426420	HCM	heart:	n/a

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:97403401..97407119-chr2:97425023..97428100,7	MCF-7	breast:
2	chr2:97301517..97305285-chr2:97426115..97429843,6	MCF-7	breast:
3	chr2:97413080..97414856-chr2:97424124..97425646,2	K562	blood:
4	chr2:97402906..97407899-chr2:97425229..97430147,10	MCF-7	breast:
5	chr2:97268720..97275117-chr2:97424272..97429412,8	MCF-7	breast:
6	chr14:20923224..20923843-chr2:97426397..97427093,2	Hela-S3	cervix:
7	chr2:97407779..97410358-chr2:97422374..97426417,4	K562	blood:
8	chr11:808341..811136-chr2:97426419..97428883,2	K562	blood:
9	chr2:97426560..97429669-chr2:97487357..97491316,3	MCF-7	breast:
10	chr2:97422064..97424734-chr2:97424939..97426592,2	MCF-7	breast:
11	chr2:96990031..96992678-chr2:97425792..97428161,2	K562	blood:
12	chr2:97426031..97428759-chr2:97617125..97619977,2	MCF-7	breast:
13	chr2:97423625..97426138-chr2:97484337..97486226,2	K562	blood:
14	chr2:97299733..97305587-chr2:97425305..97429139,7	K562	blood:
15	chr2:97399050..97401934-chr2:97425434..97428071,2	MCF-7	breast:
16	chr2:97426745..97429493-chr2:97493340..97495541,2	K562	blood:
17	chr15:65596846..65597612-chr2:97426220..97426721,2	Hela-S3	cervix:
18	chr2:97279569..97281862-chr2:97427106..97429462,3	K562	blood:
19	chr2:97405153..97407675-chr2:97425109..97427390,3	K562	blood:
20	chr2:97425294..97427081-chr2:97533526..97535772,2	K562	blood:
21	chr2:97427163..97431078-chr2:97448758..97451089,3	MCF-7	breast:
22	chr2:97425678..97429518-chr2:97479689..97484495,7	MCF-7	breast:
23	chr14:34930899..34931823-chr2:97425912..97426737,2	Hela-S3	cervix:
24	chr19:59057645..59060088-chr2:97425289..97427469,2	MCF-7	breast:
25	chr2:97426951..97430743-chr2:97481056..97485164,3	K562	blood:
26	chr2:97300473..97305040-chr2:97425563..97430425,4	MCF-7	breast:
27	chr2:97299733..97305587-chr2:97422203..97428186,8	K562	blood:
28	chr2:97426686..97428593-chr2:97451659..97454147,2	MCF-7	breast:
29	chr2:97404813..97407675-chr2:97425727..97428415,3	K562	blood:
30	chr2:97426212..97427746-chr2:97532479..97534253,2	MCF-7	breast:
31	chr2:97358845..97361710-chr2:97424992..97426847,2	K562	blood:
32	chr2:97426251..97427245-chr3:20227662..20228331,2	Hela-S3	cervix:
33	chr2:97426655..97429624-chr2:97455358..97458056,3	MCF-7	breast:

No data

Variant related genes	Relation type
CNNM4	TF binding region
CNNM4	CpG island
ENSG00000092094	chromatin interactions
ENSG00000168758	chromatin interactions
ENSG00000177595	chromatin interactions
ENSG00000129810	chromatin interactions
ENSG00000114982	chromatin interactions
ENSG00000100823	chromatin interactions
ENSG00000249715	chromatin interactions
ENSG00000177600	chromatin interactions
ENSG00000198885	chromatin interactions
ENSG00000130726	chromatin interactions
ENSG00000114988	chromatin interactions
ENSG00000168763	chromatin interactions
ENSG00000200156	chromatin interactions
ENSG00000168754	chromatin interactions
ENSG00000165389	chromatin interactions

Extended variants
information (count: 109 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559528751	chr2:97425452-97425453	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
2	rs528260466	chr2:97425505-97425506	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs551893518	chr2:97425519-97425520	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs571648221	chr2:97425520-97425521	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs142332082	chr2:97425559-97425560	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs11682994	chr2:97425561-97425562	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs62156231	chr2:97425603-97425604	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs536520617	chr2:97425676-97425677	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs549591070	chr2:97425681-97425682	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs553367547	chr2:97425707-97425708	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs567841516	chr2:97425731-97425732	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs567088126	chr2:97425805-97425806	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs538846768	chr2:97425830-97425831	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs557878473	chr2:97425857-97425858	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
15	rs577763072	chr2:97425885-97425886	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
16	rs543459428	chr2:97425914-97425915	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs534731439	chr2:97425922-97425923	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs146626747	chr2:97425957-97425958	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs189789558	chr2:97425975-97425976	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs555843694	chr2:97426021-97426022	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs559379669	chr2:97426025-97426026	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs145757620	chr2:97426040-97426041	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
23	rs544830812	chr2:97426055-97426056	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
24	rs553072886	chr2:97426061-97426062	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
25	rs577722495	chr2:97426075-97426076	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
26	rs565389316	chr2:97426129-97426130	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
27	rs538584083	chr2:97426132-97426133	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
28	rs563471033	chr2:97426140-97426141	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
29	rs13034754	chr2:97426172-97426173	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
30	rs181367485	chr2:97426188-97426189	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
31	rs199920916	chr2:97426202-97426203	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
32	rs148993610	chr2:97426205-97426206	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
33	rs115767640	chr2:97426215-97426216	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
34	rs547309962	chr2:97426226-97426227	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
35	rs185788118	chr2:97426258-97426259	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
36	rs371561047	chr2:97426310-97426311	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
37	rs573920498	chr2:97426328-97426329	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
38	rs575536195	chr2:97426362-97426363	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
39	rs539224819	chr2:97426422-97426423	Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
40	rs558841473	chr2:97426446-97426447	Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
41	rs542535662	chr2:97426481-97426482	Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
42	rs370456796	chr2:97426509-97426510	Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
43	rs3806559	chr2:97426541-97426542	Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs573721855	chr2:97426583-97426584	Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
45	rs542255673	chr2:97426603-97426604	Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
46	rs553235240	chr2:97426679-97426680	Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
47	rs573014478	chr2:97426698-97426699	Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
48	rs545205153	chr2:97426723-97426724	Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
49	rs113347008	chr2:97426833-97426834	Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
50	rs368857537	chr2:97426842-97426843	Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	17483303	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Ovarian cancer	21781307	CNVD
Lung cancer	18438408	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21509527	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Glioblastoma multiforme	21138945	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:551 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97420600-97425800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr2:97420600-97426000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:97420600-97426000	Weak transcription	Osteobl	bone
4	chr2:97422800-97425800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr2:97423200-97426000	Enhancers	Fetal Intestine Small	intestine
6	chr2:97423600-97426000	Enhancers	Duodenum Mucosa	Duodenum
7	chr2:97423600-97426000	Enhancers	Fetal Intestine Large	intestine
8	chr2:97423800-97426200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:97424200-97425800	Weak transcription	HMEC	breast
10	chr2:97424200-97426000	Weak transcription	Liver	Liver
11	chr2:97424400-97425600	Weak transcription	Fetal Kidney	kidney
12	chr2:97424400-97425800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:97424600-97426000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr2:97424600-97426000	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr2:97424600-97426000	Enhancers	Stomach Mucosa	stomach
16	chr2:97424800-97425800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:97424800-97425800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr2:97424800-97425800	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr2:97424800-97425800	Enhancers	A549	lung
20	chr2:97424800-97426000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:97424800-97426000	Enhancers	Primary T cells fromperipheralblood	blood
22	chr2:97424800-97426000	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr2:97424800-97426000	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr2:97424800-97426000	Enhancers	Brain Cingulate Gyrus	brain
25	chr2:97424800-97426000	Enhancers	GM12878-XiMat	blood
26	chr2:97424800-97426000	Enhancers	K562	blood
27	chr2:97424800-97426200	Enhancers	Esophagus	oesophagus
28	chr2:97425000-97425600	Flanking Bivalent TSS/Enh	HepG2	liver
29	chr2:97425000-97425800	Enhancers	Primary hematopoietic stem cells	blood
30	chr2:97425000-97425800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr2:97425000-97425800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr2:97425000-97426000	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr2:97425000-97426000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr2:97425000-97426000	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr2:97425000-97426000	Enhancers	Primary B cells from peripheral blood	blood
36	chr2:97425000-97426000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr2:97425000-97426000	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr2:97425000-97426000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:97425000-97426000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr2:97425000-97426000	Enhancers	Colonic Mucosa	Colon
41	chr2:97425000-97426000	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr2:97425000-97426200	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr2:97425000-97426400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:97425200-97425600	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr2:97425200-97425600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
46	chr2:97425200-97425600	Enhancers	Dnd41	blood
47	chr2:97425200-97425800	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr2:97425200-97425800	Active TSS	Stomach Smooth Muscle	stomach
49	chr2:97425200-97426000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr2:97425200-97426000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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