Variant report

Variant	nsv1008190
Chromosome Location	chr2:40429442-40506772
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:783)
CpG islands
(count:550)
Chromatin interactive
region (count:15)
LncRNA
region (count:41)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:783 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr2:40483228-40483237	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr2:40471896-40472050	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr2:40467096-40467749	IMR90	lung:	n/a	n/a
4	CEBPB	chr2:40476489-40477104	Hela-S3	cervix:	n/a	chr2:40476580-40476591 chr2:40476580-40476591
5	CEBPB	chr2:40465541-40465724	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr2:40450688-40450982	IMR90	lung:	n/a	n/a
7	CEBPB	chr2:40450707-40451000	HepG2	liver:	n/a	n/a
8	CEBPB	chr2:40472149-40472230	HepG2	liver:	n/a	chr2:40472203-40472216 chr2:40472204-40472215
9	CEBPB	chr2:40486609-40486751	HepG2	liver:	n/a	chr2:40486676-40486687
10	CEBPB	chr2:40466268-40466570	HepG2	liver:	n/a	chr2:40466400-40466411 chr2:40466398-40466409
11	CEBPB	chr2:40439848-40440209	IMR90	lung:	n/a	n/a
12	CEBPB	chr2:40503236-40503347	IMR90	lung:	n/a	chr2:40503275-40503286 chr2:40503246-40503257 chr2:40503246-40503259 chr2:40503275-40503286
13	CEBPB	chr2:40466272-40466571	IMR90	lung:	n/a	chr2:40466400-40466411 chr2:40466398-40466409
14	CEBPB	chr2:40441588-40441717	A549	lung:	n/a	n/a
15	CEBPB	chr2:40450723-40451027	A549	lung:	n/a	n/a
16	CEBPB	chr2:40503147-40503403	A549	lung:	n/a	chr2:40503275-40503286 chr2:40503246-40503257 chr2:40503246-40503259 chr2:40503275-40503286
17	CEBPB	chr2:40447451-40447538	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr2:40471869-40472315	IMR90	lung:	n/a	chr2:40472203-40472216 chr2:40472204-40472215
19	CEBPB	chr2:40471863-40472183	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr2:40453304-40453460	HepG2	liver:	n/a	n/a
21	CEBPB	chr2:40469533-40469684	HepG2	liver:	n/a	n/a
22	CEBPB	chr2:40447311-40448036	IMR90	lung:	n/a	n/a
23	CEBPB	chr2:40466291-40466553	A549	lung:	n/a	chr2:40466400-40466411 chr2:40466398-40466409
24	CEBPB	chr2:40441546-40441737	IMR90	lung:	n/a	n/a
25	CEBPB	chr2:40500916-40501465	HepG2	liver:	n/a	chr2:40500947-40500958
26	CEBPB	chr2:40500793-40501325	IMR90	lung:	n/a	chr2:40500947-40500958
27	CTCF	chr2:40471840-40471990	HCM	heart:	n/a	chr2:40471927-40471943 chr2:40471926-40471944 chr2:40471928-40471949
28	CTCF	chr2:40471860-40472010	GM12871	blood:	n/a	chr2:40471927-40471943 chr2:40471926-40471944 chr2:40471928-40471949
29	CTCF	chr2:40440332-40440633	MCF-7	breast:	n/a	chr2:40440472-40440493 chr2:40440470-40440488 chr2:40440471-40440487
30	CTCF	chr2:40483860-40484010	A549	lung:	n/a	n/a
31	CTCF	chr2:40471840-40471990	HPAF	blood vessel:	n/a	chr2:40471927-40471943 chr2:40471926-40471944 chr2:40471928-40471949
32	CTCF	chr2:40501080-40501230	HepG2	liver:	n/a	chr2:40501083-40501093 chr2:40501081-40501094
33	CTCF	chr2:40440365-40440584	Pancreas_OC	pancreas:	n/a	chr2:40440472-40440493 chr2:40440470-40440488 chr2:40440471-40440487
34	CTCF	chr2:40483920-40484070	AG09309	skin:	n/a	n/a
35	CTCF	chr2:40483950-40483996	Kidney_OC	kidney:	n/a	n/a
36	CTCF	chr2:40483880-40484030	GM12865	blood:	n/a	n/a
37	CTCF	chr2:40483900-40484050	HEK293	kidney:	n/a	n/a
38	CTCF	chr2:40440400-40440550	AG10803	skin:	n/a	chr2:40440472-40440493 chr2:40440470-40440488 chr2:40440471-40440487
39	CTCF	chr2:40440420-40440570	GM12873	blood:	n/a	chr2:40440472-40440493 chr2:40440470-40440488 chr2:40440471-40440487
40	CTCF	chr2:40483880-40484030	HAc	cerebellar:	n/a	n/a
41	CTCF	chr2:40483920-40484070	HRPEpiC	eye:	n/a	n/a
42	CTCF	chr2:40471818-40472044	MCF-7	breast:	n/a	chr2:40471927-40471943 chr2:40471926-40471944 chr2:40471928-40471949
43	CTCF	chr2:40440400-40440550	AG09319	gingival:	n/a	chr2:40440472-40440493 chr2:40440470-40440488 chr2:40440471-40440487
44	CTCF	chr2:40471760-40471910	HFF	foreskin:	n/a	n/a
45	CTCF	chr2:40471812-40472057	MCF-7	breast:	n/a	chr2:40471927-40471943 chr2:40471926-40471944 chr2:40471928-40471949
46	CTCF	chr2:40483940-40484090	HVMF	connective:	n/a	n/a
47	CTCF	chr2:40483878-40484083	MCF-7	breast:	n/a	n/a
48	CTCF	chr2:40471831-40471990	A549	lung:	n/a	chr2:40471927-40471943 chr2:40471926-40471944 chr2:40471928-40471949
49	CTCF	chr2:40471700-40471850	HAc	cerebellar:	n/a	n/a
50	CTCF	chr2:40483900-40484050	HPAF	blood vessel:	n/a	n/a

(count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:40470864-40470914	ovcar-3	ovarian:	n/a
2	chr2:40470864-40470914	ovcar-3	ovarian:	n/a
3	chr2:40437698-40437748	NT2-D1	testis:	n/a
4	chr2:40472772-40472822	ovcar-3	ovarian:	n/a
5	chr2:40472772-40472822	A549	lung:	n/a
6	chr2:40472772-40472822	AG09319	gingival:	n/a
7	chr2:40470864-40470914	NHDF-neo	bronchial:	n/a
8	chr2:40452795-40452845	PANC-1	pancreas:	n/a
9	chr2:40472772-40472822	HEK293	kidney:	embryo
10	chr2:40436843-40436893	HEEpiC	esophagus:	n/a
11	chr2:40468548-40468598	SK-N-MC	brain:	n/a
12	chr2:40447561-40447611	PANC-1	pancreas:	n/a
13	chr2:40447561-40447611	Caco-2	colon:	n/a
14	chr2:40436843-40436893	MCF10A-Er-Src	breast:	n/a
15	chr2:40437698-40437748	HCF	heart:	n/a
16	chr2:40440949-40440999	HepG2	liver:	n/a
17	chr2:40447561-40447611	HPAEpiC	pulmonary alveolar:	n/a
18	chr2:40437698-40437748	ECC-1	luminal epithelium:	n/a
19	chr2:40437698-40437748	BJ	skin:	n/a
20	chr2:40437698-40437748	AG04449	skin:	fetal
21	chr2:40472772-40472822	PrEC	prostate:	n/a
22	chr2:40452795-40452845	SK-N-SH	brain:	n/a
23	chr2:40470864-40470914	HRCEpiC	kidney:	n/a
24	chr2:40468548-40468598	PFSK-1	brain:	n/a
25	chr2:40472772-40472822	GM19239	blood:	n/a
26	chr2:40447561-40447611	Hela-S3	cervix:	n/a
27	chr2:40470864-40470914	PANC-1	pancreas:	n/a
28	chr2:40437698-40437748	GM19239	blood:	n/a
29	chr2:40465453-40465503	NH-A	brain:	n/a
30	chr2:40440949-40440999	MCF10A-Er-Src	breast:	n/a
31	chr2:40472772-40472822	K562	blood:	n/a
32	chr2:40452795-40452845	SAEC	small airway:	n/a
33	chr2:40452795-40452845	ProgFib	skin:	n/a
34	chr2:40470864-40470914	HCF	heart:	n/a
35	chr2:40470864-40470914	HMEC	breast:	n/a
36	chr2:40472772-40472822	HRCEpiC	kidney:	n/a
37	chr2:40440949-40440999	ovcar-3	ovarian:	n/a
38	chr2:40468548-40468598	Caco-2	colon:	n/a
39	chr2:40447561-40447611	ovcar-3	ovarian:	n/a
40	chr2:40452795-40452845	LNCaP	prostate:	n/a
41	chr2:40465453-40465503	CMK	blood:	n/a
42	chr2:40437698-40437748	AG09309	skin:	n/a
43	chr2:40470864-40470914	HRE	kidney:	n/a
44	chr2:40447561-40447611	T-47D	breast:	n/a
45	chr2:40468548-40468598	HCM	heart:	n/a
46	chr2:40437698-40437748	HEK293	kidney:	embryo
47	chr2:40468548-40468598	BE2_C	brain:	n/a
48	chr2:40452795-40452845	GM12878	blood:	n/a
49	chr2:40472772-40472822	HEEpiC	esophagus:	n/a
50	chr2:40452795-40452845	BJ	skin:	n/a

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:40502917..40505648-chr2:40506490..40508382,2	MCF-7	breast:
2	chr2:40140472..40141253-chr2:40471871..40472400,2	MCF-7	breast:
3	chr2:40430449..40432032-chr2:40434397..40435947,2	K562	blood:
4	chr2:40471470..40472428-chr2:40781584..40782502,3	MCF-7	breast:
5	chr2:40472223..40475000-chr2:40477866..40479502,2	K562	blood:
6	chr2:40440228..40440936-chr2:40471245..40471990,2	MCF-7	breast:
7	chr2:40440228..40440936-chr2:40471245..40471990,2	MCF-7	breast:
8	chr2:40457676..40460307-chr2:40464951..40466510,2	K562	blood:
9	chr2:40502917..40505648-chr2:40506490..40508382,2	MCF-7	breast:
10	chr2:40439962..40440629-chr2:40781631..40782440,3	MCF-7	breast:
11	chr2:40427590..40429513-chr2:40436431..40438074,2	MCF-7	breast:
12	chr2:40457676..40460307-chr2:40464951..40466510,2	K562	blood:
13	chr2:40440009..40440862-chr2:40987001..40987610,3	MCF-7	breast:
14	chr2:40440053..40440830-chr2:40675706..40676650,2	MCF-7	breast:
15	chr2:40430449..40432032-chr2:40434397..40435947,2	K562	blood:

(count:41 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM178-2	chr2:40478824-40478889	ENSG00000227028.2
2	lnc-TMEM178-2	chr2:40478824-40478914	ENSG00000227028.1
3	lnc-TMEM178-2	chr2:40481560-40481718	ENSG00000227028.1
4	lnc-TMEM178-2	chr2:40481560-40482349	NONHSAT070261
5	lnc-TMEM178-2	chr2:40450770-40450891	ENSG00000227028.2
6	lnc-TMEM178-2	chr2:40478824-40478897	ENSG00000227028.2
7	lnc-TMEM178-2	chr2:40478824-40478889	ENSG00000227028.2
8	lnc-TMEM178-2	chr2:40481560-40482342	NONHSAT070263
9	lnc-TMEM178-2	chr2:40435515-40435591	ENSG00000227028.2
10	lnc-TMEM178-2	chr2:40478563-40478688	ENSG00000227028.1
11	lnc-TMEM178-2	chr2:40478824-40478889	ENSG00000227028.2
12	lnc-TMEM178-2	chr2:40437107-40437164	ENSG00000227028.2
13	lnc-TMEM178-2	chr2:40478824-40478914	ENSG00000227028.1
14	lnc-TMEM178-2	chr2:40450770-40450891	ENSG00000227028.2
15	lnc-TMEM178-2	chr2:40450770-40450891	ENSG00000227028.2
16	lnc-TMEM178-2	chr2:40481560-40482349	ENSG00000227028.1
17	lnc-TMEM178-2	chr2:40478824-40478889	ENSG00000227028.2
18	lnc-TMEM178-2	chr2:40450770-40450891	ENSG00000227028.2
19	lnc-TMEM178-2	chr2:40450770-40450891	ENSG00000227028.1
20	lnc-TMEM178-2	chr2:40478824-40478914	ENSG00000227028.1
21	lnc-TMEM178-2	chr2:40450770-40450891	ENSG00000227028.2
22	lnc-TMEM178-2	chr2:40478824-40478897	ENSG00000227028.2
23	lnc-TMEM178-2	chr2:40478824-40478914	NONHSAT070261
24	lnc-TMEM178-2	chr2:40481560-40481686	ENSG00000227028.1
25	lnc-TMEM178-2	chr2:40478824-40478889	ENSG00000227028.2
26	lnc-TMEM178-2	chr2:40437105-40437164	ENSG00000227028.1
27	lnc-TMEM178-2	chr2:40450770-40450891	ENSG00000227028.2
28	lnc-TMEM178-2	chr2:40478824-40478914	NONHSAT070263
29	lnc-TMEM178-2	chr2:40478824-40478914	ENSG00000227028.1
30	lnc-TMEM178-2	chr2:40437107-40437164	ENSG00000227028.2
31	lnc-TMEM178-2	chr2:40450770-40450891	ENSG00000227028.2
32	lnc-TMEM178-2	chr2:40437107-40437164	ENSG00000227028.2
33	lnc-TMEM178-2	chr2:40447283-40447525	ENSG00000227028.1
34	lnc-TMEM178-2	chr2:40440309-40440619	ENSG00000227028.2
35	lnc-TMEM178-2	chr2:40481560-40481903	ENSG00000227028.1
36	lnc-TMEM178-2	chr2:40450770-40450891	ENSG00000227028.1
37	lnc-TMEM178-2	chr2:40481560-40482198	ENSG00000227028.1
38	lnc-TMEM178-2	chr2:40478824-40478889	ENSG00000227028.2
39	lnc-TMEM178-2	chr2:40478824-40478889	ENSG00000227028.2
40	lnc-TMEM178-2	chr2:40478824-40478914	ENSG00000227028.1
41	lnc-TMEM178-2	chr2:40450770-40450891	ENSG00000227028.2

No data

Variant related genes	Relation type
SLC8A1-AS1	TF binding region
ENSG00000268898	TF binding region
SLC8A1-AS1	CpG island
ENSG00000268898	CpG island
ENSG00000227028	chromatin interactions

Extended variants
information (count: 3808 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:3808 , 50 per page) page: 1 2 3 4 5 6 7 ... 77

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11674102	chr2:40429442-40429443	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551209963	chr2:40429469-40429470	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs529936692	chr2:40429490-40429491	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs181073825	chr2:40429525-40429526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs13015064	chr2:40429526-40429527	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs373771404	chr2:40429558-40429559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs527601610	chr2:40429568-40429569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs149894693	chr2:40429643-40429644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570464882	chr2:40429665-40429666	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11674230	chr2:40429669-40429670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551313396	chr2:40429730-40429731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531328955	chr2:40429742-40429743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549943098	chr2:40429746-40429747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183990694	chr2:40429758-40429759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs201243801	chr2:40429856-40429857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs536876296	chr2:40429861-40429862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554883942	chr2:40429867-40429868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs75179805	chr2:40429879-40429880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534228909	chr2:40429880-40429881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558823062	chr2:40429886-40429887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533395029	chr2:40429912-40429913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376491	chr2:40429950-40429951	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs1428576	chr2:40429956-40429957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531359507	chr2:40429957-40429958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369095259	chr2:40429989-40429990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188723398	chr2:40430001-40430002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11895025	chr2:40430023-40430024	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs542275562	chr2:40430051-40430052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148559771	chr2:40430055-40430056	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs571203659	chr2:40430056-40430057	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532102332	chr2:40430067-40430068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527436472	chr2:40430101-40430102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537623416	chr2:40430103-40430104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs118101661	chr2:40430109-40430110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564362153	chr2:40430113-40430114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531369701	chr2:40430156-40430157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142946123	chr2:40430164-40430165	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551373269	chr2:40430249-40430250	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181502695	chr2:40430419-40430420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs547426771	chr2:40430478-40430479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs147738864	chr2:40430483-40430484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs534119199	chr2:40430586-40430587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs17504446	chr2:40430611-40430612	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs570791057	chr2:40430666-40430667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377765885	chr2:40430726-40430727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186868195	chr2:40430771-40430772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs191717555	chr2:40430795-40430796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574736880	chr2:40430801-40430802	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541962783	chr2:40430902-40430903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554235636	chr2:40430924-40430925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Non-small cell lung cancer	18927303	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22522925	CNVD
Williams Syndrome	20824207	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1028 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40405400-40430000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:40417200-40430400	Weak transcription	Aorta	Aorta
3	chr2:40418200-40447200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr2:40418600-40445800	Weak transcription	Dnd41	blood
5	chr2:40419200-40436600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:40420600-40430000	Weak transcription	NHLF	lung
7	chr2:40422000-40435200	Weak transcription	Fetal Kidney	kidney
8	chr2:40422200-40430000	Weak transcription	Left Ventricle	heart
9	chr2:40422600-40436400	Weak transcription	Right Ventricle	heart
10	chr2:40424600-40430000	Weak transcription	Fetal Brain Male	brain
11	chr2:40424600-40430400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr2:40424800-40429800	Weak transcription	Fetal Brain Female	brain
13	chr2:40425200-40430000	Weak transcription	Fetal Muscle Leg	muscle
14	chr2:40425400-40433400	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr2:40426400-40430800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:40426600-40430000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:40426800-40430800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:40427000-40431600	Enhancers	Fetal Heart	heart
19	chr2:40427800-40429800	Weak transcription	HSMMtube	muscle
20	chr2:40427800-40429800	Weak transcription	Osteobl	bone
21	chr2:40428000-40429800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr2:40428000-40430000	Weak transcription	Ovary	ovary
23	chr2:40428600-40429800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:40428600-40431400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:40428800-40430600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:40428800-40431000	Enhancers	Colon Smooth Muscle	Colon
27	chr2:40429000-40431200	Enhancers	Fetal Stomach	stomach
28	chr2:40429200-40429600	Weak transcription	NHDF-Ad	bronchial
29	chr2:40429200-40429800	Weak transcription	HSMM	muscle
30	chr2:40429200-40430000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:40429200-40430800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr2:40429200-40432200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:40429400-40429800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:40429400-40430400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr2:40429600-40431200	Enhancers	NHDF-Ad	bronchial
36	chr2:40429800-40430400	Enhancers	Brain Anterior Caudate	brain
37	chr2:40429800-40430600	Enhancers	Rectal Smooth Muscle	rectum
38	chr2:40429800-40430600	Enhancers	HSMM	muscle
39	chr2:40429800-40430800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:40429800-40430800	Enhancers	Osteobl	bone
41	chr2:40429800-40431000	Enhancers	Fetal Brain Female	brain
42	chr2:40429800-40431800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:40429800-40431800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:40429800-40431800	Enhancers	HSMMtube	muscle
45	chr2:40430000-40430200	Enhancers	Stomach Smooth Muscle	stomach
46	chr2:40430000-40430400	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr2:40430000-40430400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr2:40430000-40430400	Enhancers	Fetal Brain Male	brain
49	chr2:40430000-40430400	Enhancers	Fetal Muscle Leg	muscle
50	chr2:40430000-40430400	Enhancers	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links