Variant report

Variant	nsv1043973
Chromosome Location	chr11:17781560-17869896
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1540)
CpG islands
(count:1405)
Chromatin interactive
region (count:88)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:1540 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:17791527-17791963	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:17812058-17812461	HepG2	liver:	n/a	n/a
3	ARID3A	chr11:17812863-17812899	K562	blood:	n/a	n/a
4	ATF1	chr11:17783928-17784200	K562	blood:	n/a	n/a
5	ATF1	chr11:17853486-17853729	K562	blood:	n/a	n/a
6	BACH1	chr11:17781712-17781838	K562	blood:	n/a	n/a
7	BACH1	chr11:17781684-17782192	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr11:17808619-17808727	H1-hESC	embryonic stem cell:	n/a	n/a
9	BHLHE40	chr11:17791514-17791889	K562	blood:	n/a	n/a
10	BHLHE40	chr11:17781973-17782310	K562	blood:	n/a	n/a
11	BHLHE40	chr11:17784019-17784137	K562	blood:	n/a	n/a
12	BHLHE40	chr11:17825115-17825264	K562	blood:	n/a	n/a
13	BHLHE40	chr11:17791512-17792072	HepG2	liver:	n/a	n/a
14	BHLHE40	chr11:17868416-17868625	K562	blood:	n/a	n/a
15	BHLHE40	chr11:17799360-17799604	K562	blood:	n/a	n/a
16	BHLHE40	chr11:17782021-17782165	GM12878	blood:	n/a	n/a
17	BRCA1	chr11:17781963-17782291	HepG2	liver:	n/a	n/a
18	CBX3	chr11:17791632-17791866	K562	blood:	n/a	n/a
19	CBX3	chr11:17781908-17782256	K562	blood:	n/a	n/a
20	CEBPB	chr11:17867018-17867575	IMR90	lung:	n/a	n/a
21	CEBPB	chr11:17791598-17791899	HepG2	liver:	n/a	n/a
22	CEBPB	chr11:17866996-17867422	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr11:17811973-17812277	HepG2	liver:	n/a	chr11:17812105-17812116
24	CEBPB	chr11:17782011-17782346	H1-hESC	embryonic stem cell:	n/a	n/a
25	CEBPB	chr11:17811866-17812390	IMR90	lung:	n/a	chr11:17812105-17812116
26	CEBPB	chr11:17843522-17843909	IMR90	lung:	n/a	n/a
27	CEBPB	chr11:17853623-17853638	K562	blood:	n/a	n/a
28	CEBPD	chr11:17791540-17791900	HepG2	liver:	n/a	n/a
29	CHD1	chr11:17867216-17867279	GM12878	blood:	n/a	n/a
30	CHD2	chr11:17782114-17782122	GM12878	blood:	n/a	n/a
31	CHD2	chr11:17829328-17829350	HepG2	liver:	n/a	n/a
32	CHD2	chr11:17791574-17791809	K562	blood:	n/a	n/a
33	CHD2	chr11:17791554-17791821	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD2	chr11:17782199-17782328	K562	blood:	n/a	n/a
35	CHD2	chr11:17791537-17791869	Hela-S3	cervix:	n/a	n/a
36	CHD2	chr11:17791517-17791901	HepG2	liver:	n/a	n/a
37	CHD2	chr11:17781920-17782286	H1-hESC	embryonic stem cell:	n/a	n/a
38	CREB1	chr11:17783938-17784298	K562	blood:	n/a	n/a
39	CTCF	chr11:17792580-17792730	HVMF	connective:	n/a	chr11:17792652-17792673
40	CTCF	chr11:17846189-17846265	GM19239	blood:	n/a	n/a
41	CTCF	chr11:17792484-17792843	IMR90	lung:	n/a	chr11:17792652-17792673
42	CTCF	chr11:17781980-17782130	WI-38	lung:	n/a	chr11:17782099-17782112 chr11:17782096-17782114 chr11:17782098-17782119
43	CTCF	chr11:17783900-17784050	GM12871	blood:	n/a	n/a
44	CTCF	chr11:17788240-17788390	GM12869	blood:	n/a	chr11:17788326-17788336
45	CTCF	chr11:17792500-17792790	WI-38	lung:	n/a	chr11:17792652-17792673
46	CTCF	chr11:17792560-17792710	AG04449	skin:	n/a	chr11:17792652-17792673
47	CTCF	chr11:17868400-17868550	HMF	breast:	n/a	chr11:17868506-17868515 chr11:17868500-17868518 chr11:17868495-17868516
48	CTCF	chr11:17848660-17848843	Gliobla	brain:	n/a	chr11:17848732-17848753 chr11:17848737-17848755
49	CTCF	chr11:17848780-17848930	WI-38	lung:	n/a	n/a
50	CTCF	chr11:17848520-17848670	NHDF-neo	bronchial:	n/a	n/a

(count:1405 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:17793958-17794008	LNCaP	prostate:	n/a
2	chr11:17790285-17790335	AG10803	skin:	n/a
3	chr11:17793958-17794008	LNCaP	prostate:	n/a
4	chr11:17790285-17790335	AG10803	skin:	n/a
5	chr11:17834480-17834530	HAEpiC	amniotic membrane:	n/a
6	chr11:17834480-17834530	HNPCEpiC	eye:	n/a
7	chr11:17849903-17849953	RPTEC	kidney:	n/a
8	chr11:17793529-17793579	HCT-116	colon:	n/a
9	chr11:17793958-17794008	GM12878	blood:	n/a
10	chr11:17834480-17834530	U87	brain:	n/a
11	chr11:17803421-17803471	HRPEpiC	eye:	n/a
12	chr11:17791761-17791811	AG09319	gingival:	n/a
13	chr11:17824006-17824056	K562	blood:	n/a
14	chr11:17794478-17794528	BJ	skin:	n/a
15	chr11:17796490-17796540	BE2_C	brain:	n/a
16	chr11:17791761-17791811	RPTEC	kidney:	n/a
17	chr11:17793350-17793400	Caco-2	colon:	n/a
18	chr11:17793350-17793400	HepG2	liver:	n/a
19	chr11:17843855-17843905	HRE	kidney:	n/a
20	chr11:17793529-17793579	RPTEC	kidney:	n/a
21	chr11:17798912-17798962	AG10803	skin:	n/a
22	chr11:17801276-17801326	NT2-D1	testis:	n/a
23	chr11:17849903-17849953	T-47D	breast:	n/a
24	chr11:17803962-17804012	MCF10A-Er-Src	breast:	n/a
25	chr11:17867864-17867914	SK-N-SH	brain:	n/a
26	chr11:17793529-17793579	ProgFib	skin:	n/a
27	chr11:17867864-17867914	PFSK-1	brain:	n/a
28	chr11:17801276-17801326	SKMC	muscle:	n/a
29	chr11:17808724-17808774	SKMC	muscle:	n/a
30	chr11:17803421-17803471	HEEpiC	esophagus:	n/a
31	chr11:17834480-17834530	HRPEpiC	eye:	n/a
32	chr11:17791761-17791811	A549	lung:	n/a
33	chr11:17803160-17803210	NHBE	bronchial:	n/a
34	chr11:17834480-17834530	ECC-1	luminal epithelium:	n/a
35	chr11:17803389-17803439	HCM	heart:	n/a
36	chr11:17849903-17849953	AG09309	skin:	n/a
37	chr11:17834480-17834530	SK-N-MC	brain:	n/a
38	chr11:17796490-17796540	PANC-1	pancreas:	n/a
39	chr11:17794478-17794528	HepG2	liver:	n/a
40	chr11:17793958-17794008	SK-N-MC	brain:	n/a
41	chr11:17824006-17824056	Caco-2	colon:	n/a
42	chr11:17849903-17849953	BE2_C	brain:	n/a
43	chr11:17843855-17843905	HCT-116	colon:	n/a
44	chr11:17825098-17825148	NHDF-neo	bronchial:	n/a
45	chr11:17803389-17803439	NB4	blood:	n/a
46	chr11:17808724-17808774	HNPCEpiC	eye:	n/a
47	chr11:17798912-17798962	HRPEpiC	eye:	n/a
48	chr11:17803160-17803210	HCF	heart:	n/a
49	chr11:17825098-17825148	HCPEpiC	choroid plexus:	n/a
50	chr11:17834480-17834530	H1-hESC	embryonic stem cell:	embryo

(count:88 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:17788319..17789007-chr11:17994351..17995171,2	MCF-7	breast:
2	chr11:17820545..17822051-chr11:17823456..17825530,2	K562	blood:
3	chr11:17783547..17784473-chr11:18000133..18001470,5	MCF-7	breast:
4	chr11:17804443..17806483-chr11:17873609..17875464,2	K562	blood:
5	chr11:17814065..17815842-chr11:17818470..17821411,2	K562	blood:
6	chr11:17783515..17784102-chr11:17848668..17849177,2	MCF-7	breast:
7	chr11:17825311..17828756-chr11:17836792..17840310,3	MCF-7	breast:
8	chr11:17845790..17846776-chr11:17999975..18000668,2	MCF-7	breast:
9	chr11:17783615..17784490-chr11:17868027..17868802,2	MCF-7	breast:
10	chr11:17757319..17757897-chr11:17781730..17782258,2	K562	blood:
11	chr11:17833715..17836483-chr11:17839806..17843021,3	MCF-7	breast:
12	chr11:17867031..17869895-chr11:17870240..17872137,3	MCF-7	breast:
13	chr11:17809972..17812196-chr11:17815890..17818080,2	K562	blood:
14	chr11:17791223..17792205-chr11:17834136..17835260,3	MCF-7	breast:
15	chr11:17783515..17784102-chr11:17848668..17849177,2	MCF-7	breast:
16	chr11:17792903..17795891-chr11:17796035..17799923,4	K562	blood:
17	chr11:17794271..17797051-chr11:17798441..17802132,3	K562	blood:
18	chr11:17783850..17786298-chr11:17789626..17792965,4	K562	blood:
19	chr11:17794271..17797051-chr11:17798441..17802132,3	K562	blood:
20	chr11:17752436..17753246-chr11:17868432..17868961,2	MCF-7	breast:
21	chr11:17426978..17427915-chr11:17791365..17792221,7	MCF-7	breast:
22	chr11:17842186..17845184-chr11:17848108..17850179,2	MCF-7	breast:
23	chr11:17802511..17804986-chr11:17809141..17810811,2	K562	blood:
24	chr11:17823576..17826889-chr11:17829759..17833137,3	MCF-7	breast:
25	chr11:17781675..17782374-chr11:17994338..17995285,3	MCF-7	breast:
26	chr11:17782031..17782545-chr11:17865700..17866358,2	MCF-7	breast:
27	chr11:17842186..17845184-chr11:17848108..17850179,2	MCF-7	breast:
28	chr11:17865463..17868129-chr11:17879075..17880713,2	K562	blood:
29	chr11:17782032..17782544-chr11:17801368..17801871,2	MCF-7	breast:
30	chr11:17868099..17868883-chr11:17927786..17928302,2	MCF-7	breast:
31	chr11:17802523..17804116-chr11:17831830..17833743,2	MCF-7	breast:
32	chr11:17781823..17782570-chr11:18001193..18001905,2	MCF-7	breast:
33	chr11:17864169..17866997-chr11:18026845..18029162,2	K562	blood:
34	chr11:17789104..17793559-chr11:17796092..17800270,5	MCF-7	breast:
35	chr11:17788184..17788771-chr11:17801223..17802052,2	MCF-7	breast:
36	chr11:17809972..17812196-chr11:17815890..17818080,2	K562	blood:
37	chr11:17791307..17792105-chr11:17946399..17946914,2	MCF-7	breast:
38	chr11:17781862..17782597-chr11:17994721..17995346,2	K562	blood:
39	chr11:17837704..17839963-chr11:17840786..17842611,2	K562	blood:
40	chr11:17752076..17753447-chr11:17867688..17868717,4	MCF-7	breast:
41	chr11:17778611..17780573-chr11:17781418..17783922,2	K562	blood:
42	chr11:17818302..17822051-chr11:17823456..17827396,5	K562	blood:
43	chr11:17814065..17815842-chr11:17818470..17821411,2	K562	blood:
44	chr11:17791549..17792453-chr11:17833752..17834540,3	MCF-7	breast:
45	chr11:17790395..17791963-chr11:17795616..17797848,2	K562	blood:
46	chr11:17833715..17836483-chr11:17839806..17843021,3	MCF-7	breast:
47	chr11:17791223..17792205-chr11:17834136..17835260,3	MCF-7	breast:
48	chr11:17783615..17784490-chr11:17868027..17868802,2	MCF-7	breast:
49	chr11:17802032..17804366-chr11:17833882..17835723,2	MCF-7	breast:
50	chr11:17788184..17788771-chr11:17801223..17802052,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SERGEF-1	chr11:17809595-17809960	NONHSAT018250
2	lnc-MYOD1-2	chr11:17795943-17799369	NONHSAT018246
3	lnc-KCNC1-2	chr11:17816331-17818197	NONHSAT018253
4	lnc-SERGEF-1	chr11:17809595-17809960	NONHSAT018249
5	lnc-SERGEF-1	chr11:17809599-17809960	NONHSAT018251
6	lnc-SERGEF-1	chr11:17809595-17809960	NONHSAT018248

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	KCNC1	hsa-miR-335-5p	chr11:17803647-17803670

Variant related genes	Relation type
KCNC1	TF binding region
KCNC1	CpG island
ENSG00000129159	chromatin interactions

Extended variants
information (count: 3121 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:3121 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577687486	chr11:17781608-17781609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs111321146	chr11:17781684-17781685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs190787194	chr11:17781757-17781758	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs139896173	chr11:17781852-17781853	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs149476413	chr11:17781870-17781871	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs77036213	chr11:17781973-17781974	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs183028435	chr11:17781974-17781975	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs2158478	chr11:17782019-17782020	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs1548565	chr11:17782029-17782030	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs546836089	chr11:17782039-17782040	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs565054598	chr11:17782040-17782041	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs533297727	chr11:17782059-17782060	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs553280856	chr11:17782065-17782066	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs143952586	chr11:17782121-17782122	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs369739086	chr11:17782183-17782184	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs577916318	chr11:17782192-17782193	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs57167407	chr11:17782197-17782198	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs369774886	chr11:17782201-17782202	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs537040532	chr11:17782211-17782212	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs139791008	chr11:17782250-17782251	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs567623517	chr11:17782258-17782259	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs534959590	chr11:17782281-17782282	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs539102656	chr11:17782322-17782323	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs187279956	chr11:17782324-17782325	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs578111972	chr11:17782342-17782343	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs75736723	chr11:17782367-17782368	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs557008478	chr11:17782388-17782389	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs143209497	chr11:17782444-17782445	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542647043	chr11:17782520-17782521	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377370393	chr11:17782523-17782524	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146755671	chr11:17782570-17782571	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373898510	chr11:17782573-17782574	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139440835	chr11:17782577-17782578	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs115476739	chr11:17782601-17782602	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs142609480	chr11:17782645-17782646	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs551625692	chr11:17782646-17782647	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs150975375	chr11:17782668-17782669	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs140842667	chr11:17782669-17782670	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs139524765	chr11:17782739-17782740	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs548989148	chr11:17782740-17782741	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs191720689	chr11:17782786-17782787	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs528794913	chr11:17782792-17782793	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs547250036	chr11:17782819-17782820	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573501921	chr11:17782926-17782927	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs571787731	chr11:17782958-17782959	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs539230265	chr11:17782983-17782984	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs74424409	chr11:17783101-17783102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs1548564	chr11:17783113-17783114	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs149786773	chr11:17783124-17783125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs554637483	chr11:17783133-17783134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Cancer	21183584	CNVD
Gastric adenocarcinoma	19115996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Multiple myeloma	16461302	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Neuroblastoma	21899760	CNVD
Lung adenocarcinoma	17086460	CNVD
Urothelial cell carcinoma	18451213	CNVD
Lung cancer	17086460	CNVD
Uterine serous papillary cancer	19536090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1140 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17771200-17782200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:17772400-17786800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr11:17772400-17790600	Weak transcription	Right Atrium	heart
4	chr11:17773400-17795600	Weak transcription	Brain Hippocampus Middle	brain
5	chr11:17774000-17786000	Weak transcription	Gastric	stomach
6	chr11:17774000-17791600	Weak transcription	Pancreas	Pancrea
7	chr11:17776400-17785800	Weak transcription	Brain Angular Gyrus	brain
8	chr11:17776800-17781800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr11:17777400-17782200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr11:17780800-17781800	Weak transcription	Fetal Brain Female	brain
11	chr11:17781000-17786400	Weak transcription	Brain Germinal Matrix	brain
12	chr11:17781800-17782000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr11:17781800-17782000	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr11:17781800-17782000	Flanking Active TSS	Hela-S3	cervix
15	chr11:17781800-17782200	Enhancers	Fetal Brain Female	brain
16	chr11:17781800-17782200	Enhancers	GM12878-XiMat	blood
17	chr11:17781800-17783400	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr11:17782000-17782200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr11:17782000-17782200	Active TSS	Hela-S3	cervix
20	chr11:17782200-17782400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr11:17782200-17782400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr11:17782200-17782400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:17782200-17782400	Enhancers	Brain Cingulate Gyrus	brain
24	chr11:17782200-17782400	Genic enhancers	Fetal Brain Female	brain
25	chr11:17782200-17782400	Flanking Active TSS	HepG2	liver
26	chr11:17782200-17782600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr11:17782200-17782600	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr11:17782200-17782600	Enhancers	Spleen	Spleen
29	chr11:17782200-17782800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:17782400-17782600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr11:17782400-17782800	Enhancers	HepG2	liver
32	chr11:17782400-17783000	Strong transcription	Fetal Brain Female	brain
33	chr11:17782400-17785800	Weak transcription	Brain Cingulate Gyrus	brain
34	chr11:17782600-17782800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr11:17782600-17782800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr11:17782600-17785000	Weak transcription	Spleen	Spleen
37	chr11:17782800-17783400	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr11:17782800-17786000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr11:17782800-17787000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:17783000-17785600	Weak transcription	Fetal Brain Female	brain
41	chr11:17783400-17791600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr11:17784800-17785000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:17784800-17788400	Enhancers	Fetal Brain Male	brain
44	chr11:17785200-17788000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr11:17785400-17788200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr11:17785600-17786000	Enhancers	Fetal Brain Female	brain
47	chr11:17785600-17788000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:17785800-17786000	Enhancers	Brain Angular Gyrus	brain
49	chr11:17785800-17786200	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:17785800-17786400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links