Variant report

Variant	esv3445643
Chromosome Location	chr2:97425775-97427773
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:702)
CpG islands
(count:915)
Chromatin interactive
region (count:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:702 , 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	chr2:97426202-97426516	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr2:97426760-97427065	H1-hESC	embryonic stem cell:	n/a	n/a
4	BCL3	chr2:97425841-97426532	A549	lung:	n/a	chr2:97426481-97426490 chr2:97426435-97426444 chr2:97426480-97426493
5	BCL3	chr2:97426561-97426955	GM12878	blood:	n/a	n/a
6	BCLAF1	chr2:97426575-97427044	GM12878	blood:	n/a	n/a
7	BHLHE40	chr2:97426169-97427171	GM12878	blood:	n/a	n/a
8	BHLHE40	chr2:97426009-97427122	HepG2	liver:	n/a	n/a
9	BHLHE40	chr2:97426177-97427597	K562	blood:	n/a	n/a
10	BRCA1	chr2:97426354-97426552	GM12878	blood:	n/a	n/a
11	BRCA1	chr2:97425874-97425942	HepG2	liver:	n/a	n/a
12	BRCA1	chr2:97426198-97426567	HepG2	liver:	n/a	n/a
13	BRCA1	chr2:97426160-97426581	H1-hESC	embryonic stem cell:	n/a	n/a
14	BRCA1	chr2:97426312-97426608	Hela-S3	cervix:	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	chr2:97427023-97427104	HepG2	liver:	n/a	n/a
19	CEBPB	chr2:97426813-97427003	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr2:97426313-97427000	Hela-S3	cervix:	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	chr2:97426958-97426983	H1-hESC	embryonic stem cell:	n/a	n/a
24	CHD1	chr2:97426342-97427410	GM12878	blood:	n/a	n/a
25	CHD2	chr2:97426890-97427170	K562	blood:	n/a	n/a
26	CHD2	chr2:97426291-97426633	K562	blood:	n/a	n/a
27	CHD2	chr2:97426245-97426878	Hela-S3	cervix:	n/a	n/a
28	CHD2	chr2:97426047-97427090	GM12878	blood:	n/a	n/a
29	CHD2	chr2:97426170-97427070	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD2	chr2:97426281-97427067	HepG2	liver:	n/a	n/a
31	CREB1	chr2:97426275-97426906	A549	lung:	n/a	n/a
32	CTCF	chr2:97426780-97426930	HMEC	breast:	n/a	n/a
33	CTCF	chr2:97426689-97427044	H1-hESC	embryonic stem cell:	n/a	n/a
34	CTCF	chr2:97426760-97426910	MCF-7	breast:	n/a	n/a
35	CTCF	chr2:97426270-97427079	GM12878	blood:	n/a	n/a
36	CTCF	chr2:97426320-97426470	HepG2	liver:	n/a	n/a
37	CTCF	chr2:97426361-97426557	GM12891	blood:	n/a	n/a
38	CTCF	chr2:97426402-97426540	K562	blood:	n/a	n/a
39	CTCF	chr2:97426720-97426870	GM12870	blood:	n/a	n/a
40	CTCF	chr2:97426768-97426952	Lung_OC	lung:	n/a	n/a
41	CTCF	chr2:97426760-97426910	GM12873	blood:	n/a	n/a
42	CTCF	chr2:97426900-97427050	NHDF-neo	bronchial:	n/a	n/a
43	CTCF	chr2:97426669-97426933	A549	lung:	n/a	n/a
44	CTCF	chr2:97426800-97426950	HRPEpiC	eye:	n/a	n/a
45	CTCF	chr2:97426800-97426950	BJ	skin:	n/a	n/a
46	CTCF	chr2:97426400-97426550	GM12874	blood:	n/a	n/a
47	CTCF	chr2:97427360-97427510	MCF-7	breast:	n/a	n/a
48	CTCF	chr2:97426740-97426890	HCT-116	colon:	n/a	n/a
49	CTCF	chr2:97426679-97426973	MCF-7	breast:	n/a	n/a
50	CTCF	chr2:97426480-97426630	GM12871	blood:	n/a	n/a

(count:915 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:97426921-97426971	HCT-116	colon:	n/a
2	chr2:97426274-97426324	NHBE	bronchial:	n/a
3	chr2:97426274-97426324	NT2-D1	testis:	n/a
4	chr2:97427445-97427495	HUVEC	blood vessel:	n/a
5	chr2:97426158-97426208	HCM	heart:	n/a
6	chr2:97427027-97427077	HCM	heart:	n/a
7	chr2:97427102-97427152	K562	blood:	n/a
8	chr2:97426598-97426648	RPTEC	kidney:	n/a
9	chr2:97426488-97426538	SAEC	small airway:	n/a
10	chr2:97426478-97426528	NB4	blood:	n/a
11	chr2:97426602-97426652	AG04449	skin:	fetal
12	chr2:97427102-97427152	AG04449	skin:	fetal
13	chr2:97426488-97426538	NB4	blood:	n/a
14	chr2:97426627-97426677	BJ	skin:	n/a
15	chr2:97427027-97427077	HNPCEpiC	eye:	n/a
16	chr2:97426921-97426971	HAEpiC	amniotic membrane:	n/a
17	chr2:97427445-97427495	IMR90	lung:	fetal
18	chr2:97427033-97427083	PFSK-1	brain:	n/a
19	chr2:97426627-97426677	LNCaP	prostate:	n/a
20	chr2:97427445-97427495	HRE	kidney:	n/a
21	chr2:97426602-97426652	HPAEpiC	pulmonary alveolar:	n/a
22	chr2:97426158-97426208	HRPEpiC	eye:	n/a
23	chr2:97426485-97426535	HRPEpiC	eye:	n/a
24	chr2:97427445-97427495	HRCEpiC	kidney:	n/a
25	chr2:97427033-97427083	AG09309	skin:	n/a
26	chr2:97427445-97427495	NHBE	bronchial:	n/a
27	chr2:97426158-97426208	HCF	heart:	n/a
28	chr2:97426485-97426535	K562	blood:	n/a
29	chr2:97426158-97426208	Hela-S3	cervix:	n/a
30	chr2:97426370-97426420	U87	brain:	n/a
31	chr2:97426488-97426538	PFSK-1	brain:	n/a
32	chr2:97426921-97426971	HUVEC	blood vessel:	n/a
33	chr2:97426485-97426535	PFSK-1	brain:	n/a
34	chr2:97426488-97426538	NH-A	brain:	n/a
35	chr2:97427027-97427077	H1-hESC	embryonic stem cell:	embryo
36	chr2:97426485-97426535	HRE	kidney:	n/a
37	chr2:97426478-97426528	GM19239	blood:	n/a
38	chr2:97426274-97426324	Hepatocyte	liver:	n/a
39	chr2:97426488-97426538	BJ	skin:	n/a
40	chr2:97427027-97427077	HRE	kidney:	n/a
41	chr2:97426627-97426677	HIPEpiC	eye:	n/a
42	chr2:97426274-97426324	LNCaP	prostate:	n/a
43	chr2:97427102-97427152	ProgFib	skin:	n/a
44	chr2:97426485-97426535	AoSMC	blood vessel:	n/a
45	chr2:97426921-97426971	SK-N-MC	brain:	n/a
46	chr2:97426598-97426648	HPAEpiC	pulmonary alveolar:	n/a
47	chr2:97427445-97427495	HCT-116	colon:	n/a
48	chr2:97427445-97427495	U87	brain:	n/a
49	chr2:97426602-97426652	GM12892	blood:	n/a
50	chr2:97426485-97426535	MCF-7	breast:	n/a

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

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

No data

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

Extended variants
information (count: 90 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	rs539224819	chr2:97426422-97426423	Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
29	rs558841473	chr2:97426446-97426447	Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
30	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
31	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
32	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
33	rs573721855	chr2:97426583-97426584	Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
34	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
35	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
36	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
37	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
38	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
39	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
40	rs373447186	chr2:97426849-97426850	Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
41	rs148013233	chr2:97426881-97426882	Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
42	rs375291045	chr2:97426900-97426901	Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
43	rs560768845	chr2:97426919-97426920	Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
44	rs373324492	chr2:97426945-97426946	Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
45	rs369862845	chr2:97426978-97426979	Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
46	rs138690324	chr2:97426989-97426990	Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
47	rs147538789	chr2:97427012-97427013	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
48	rs373380795	chr2:97427025-97427026	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
49	rs544333967	chr2:97427040-97427041	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
50	rs375472463	chr2:97427048-97427049	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:53)

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

Chromatin state (count:531 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

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	chr2:97424400-97425800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:97424600-97426000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr2:97424600-97426000	Enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr2:97424600-97426000	Enhancers	Stomach Mucosa	stomach
15	chr2:97424800-97425800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:97424800-97425800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:97424800-97425800	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr2:97424800-97425800	Enhancers	A549	lung
19	chr2:97424800-97426000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:97424800-97426000	Enhancers	Primary T cells fromperipheralblood	blood
21	chr2:97424800-97426000	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr2:97424800-97426000	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr2:97424800-97426000	Enhancers	Brain Cingulate Gyrus	brain
24	chr2:97424800-97426000	Enhancers	GM12878-XiMat	blood
25	chr2:97424800-97426000	Enhancers	K562	blood
26	chr2:97424800-97426200	Enhancers	Esophagus	oesophagus
27	chr2:97425000-97425800	Enhancers	Primary hematopoietic stem cells	blood
28	chr2:97425000-97425800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr2:97425000-97425800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr2:97425000-97426000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr2:97425000-97426000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:97425000-97426000	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr2:97425000-97426000	Enhancers	Primary B cells from peripheral blood	blood
34	chr2:97425000-97426000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr2:97425000-97426000	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr2:97425000-97426000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr2:97425000-97426000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
38	chr2:97425000-97426000	Enhancers	Colonic Mucosa	Colon
39	chr2:97425000-97426000	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr2:97425000-97426200	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr2:97425000-97426400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:97425200-97425800	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr2:97425200-97425800	Active TSS	Stomach Smooth Muscle	stomach
44	chr2:97425200-97426000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr2:97425200-97426000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:97425200-97426200	Enhancers	Placenta	Placenta
47	chr2:97425400-97425800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:97425400-97425800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr2:97425400-97425800	Active TSS	Brain Anterior Caudate	brain
50	chr2:97425400-97426000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links