Variant report

Variant	nsv429810
Chromosome Location	chr7:125488049-126131049
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1372)
CpG islands
(count:61)
Chromatin interactive
region (count:49)
LncRNA
region (count:25)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1372 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr7:126019383-126019479	K562	blood:	n/a	n/a
2	ATF2	chr7:125606321-125606646	GM12878	blood:	n/a	n/a
3	BACH1	chr7:125897717-125897800	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr7:126120721-126120800	K562	blood:	n/a	n/a
5	BACH1	chr7:125817876-125818052	H1-hESC	embryonic stem cell:	n/a	n/a
6	BATF	chr7:125850801-125851102	GM12878	blood:	n/a	n/a
7	BATF	chr7:125656888-125657086	GM12878	blood:	n/a	chr7:125657018-125657029 chr7:125657002-125657013
8	BATF	chr7:125970249-125970459	GM12878	blood:	n/a	n/a
9	BATF	chr7:126084070-126084326	GM12878	blood:	n/a	chr7:126084174-126084185
10	BATF	chr7:125850778-125851091	GM12878	blood:	n/a	n/a
11	BATF	chr7:125863211-125863507	GM12878	blood:	n/a	n/a
12	BCL3	chr7:125863562-125864018	GM12878	blood:	n/a	n/a
13	BCLAF1	chr7:126090272-126090898	GM12878	blood:	n/a	n/a
14	BCLAF1	chr7:126090235-126090798	GM12878	blood:	n/a	n/a
15	BHLHE40	chr7:126018785-126018989	GM12878	blood:	n/a	n/a
16	BHLHE40	chr7:125720305-125720422	GM12878	blood:	n/a	n/a
17	BHLHE40	chr7:126089835-126090907	GM12878	blood:	n/a	n/a
18	BHLHE40	chr7:125939440-125939499	HepG2	liver:	n/a	n/a
19	BHLHE40	chr7:126051887-126051999	GM12878	blood:	n/a	n/a
20	BRCA1	chr7:126090538-126090546	GM12878	blood:	n/a	n/a
21	BRCA1	chr7:125970725-125970731	GM12878	blood:	n/a	n/a
22	BRCA1	chr7:126090013-126090032	GM12878	blood:	n/a	n/a
23	BRCA1	chr7:125661964-125662015	H1-hESC	embryonic stem cell:	n/a	n/a
24	BRCA1	chr7:125763163-125763299	GM12878	blood:	n/a	n/a
25	CBX3	chr7:125574542-125575099	HCT-116	colon:	n/a	n/a
26	CBX3	chr7:125574517-125575153	HCT-116	colon:	n/a	n/a
27	CCNT2	chr7:125569775-125569946	K562	blood:	n/a	n/a
28	CCNT2	chr7:126099340-126099539	K562	blood:	n/a	n/a
29	CCNT2	chr7:125507517-125507664	K562	blood:	n/a	n/a
30	CEBPB	chr7:125828396-125828716	HepG2	liver:	n/a	chr7:125828560-125828571
31	CEBPB	chr7:126039435-126039635	A549	lung:	n/a	n/a
32	CEBPB	chr7:125608121-125608318	H1-hESC	embryonic stem cell:	n/a	n/a
33	CEBPB	chr7:126122603-126122918	IMR90	lung:	n/a	chr7:126122780-126122791
34	CEBPB	chr7:125699528-125699779	IMR90	lung:	n/a	n/a
35	CEBPB	chr7:126100471-126100834	HepG2	liver:	n/a	chr7:126100653-126100666 chr7:126100655-126100664 chr7:126100653-126100664 chr7:126100655-126100666
36	CEBPB	chr7:125878429-125878638	HepG2	liver:	n/a	chr7:125878483-125878494
37	CEBPB	chr7:125586265-125586333	K562	blood:	n/a	chr7:125586287-125586298 chr7:125586287-125586296
38	CEBPB	chr7:126042017-126042357	IMR90	lung:	n/a	chr7:126042182-126042193
39	CEBPB	chr7:125516506-125516823	HepG2	liver:	n/a	chr7:125516666-125516677
40	CEBPB	chr7:125654905-125655125	HepG2	liver:	n/a	chr7:125654981-125654994
41	CEBPB	chr7:125579018-125579149	K562	blood:	n/a	chr7:125579076-125579087
42	CEBPB	chr7:125628748-125628924	A549	lung:	n/a	chr7:125628800-125628811 chr7:125628802-125628811
43	CEBPB	chr7:125940858-125941152	HepG2	liver:	n/a	chr7:125940980-125940991
44	CEBPB	chr7:125700034-125700243	HepG2	liver:	n/a	chr7:125700115-125700126 chr7:125700113-125700126 chr7:125700115-125700126 chr7:125700113-125700124 chr7:125700113-125700126
45	CEBPB	chr7:125942870-125943053	A549	lung:	n/a	n/a
46	CEBPB	chr7:125694384-125694663	HepG2	liver:	n/a	chr7:125694534-125694545
47	CEBPB	chr7:125516469-125516872	Hela-S3	cervix:	n/a	chr7:125516666-125516677
48	CEBPB	chr7:126100510-126100809	K562	blood:	n/a	chr7:126100653-126100666 chr7:126100655-126100664 chr7:126100653-126100664 chr7:126100655-126100666
49	CEBPB	chr7:125914073-125914277	HepG2	liver:	n/a	chr7:125914174-125914191
50	CEBPB	chr7:125539818-125539959	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:126079083-126079133	SK-N-SH	brain:	n/a
2	chr7:126079083-126079133	HepG2	liver:	n/a
3	chr7:126079083-126079133	HCF	heart:	n/a
4	chr7:126079083-126079133	HUVEC	blood vessel:	n/a
5	chr7:126079083-126079133	SAEC	small airway:	n/a
6	chr7:126079083-126079133	T-47D	breast:	n/a
7	chr7:126079083-126079133	H1-hESC	embryonic stem cell:	embryo
8	chr7:126079083-126079133	AG09319	gingival:	n/a
9	chr7:126079083-126079133	AoSMC	blood vessel:	n/a
10	chr7:126079083-126079133	Jurkat	blood:	n/a
11	chr7:126079083-126079133	PFSK-1	brain:	n/a
12	chr7:126079083-126079133	Hepatocyte	liver:	n/a
13	chr7:126079083-126079133	HEK293	kidney:	embryo
14	chr7:126079083-126079133	HRE	kidney:	n/a
15	chr7:126079083-126079133	ProgFib	skin:	n/a
16	chr7:126079083-126079133	HAEpiC	amniotic membrane:	n/a
17	chr7:126079083-126079133	AG09309	skin:	n/a
18	chr7:126079083-126079133	SK-N-MC	brain:	n/a
19	chr7:126079083-126079133	SK-N-SH_RA	brain:	n/a
20	chr7:126079083-126079133	NHDF-neo	bronchial:	n/a
21	chr7:126079083-126079133	Hela-S3	cervix:	n/a
22	chr7:126079083-126079133	BJ	skin:	n/a
23	chr7:126079083-126079133	K562	blood:	n/a
24	chr7:126079083-126079133	NHBE	bronchial:	n/a
25	chr7:126079083-126079133	U87	brain:	n/a
26	chr7:126079083-126079133	GM12891	blood:	n/a
27	chr7:126079083-126079133	MCF10A-Er-Src	breast:	n/a
28	chr7:126079083-126079133	HRCEpiC	kidney:	n/a
29	chr7:126079083-126079133	ECC-1	luminal epithelium:	n/a
30	chr7:126079083-126079133	NB4	blood:	n/a
31	chr7:126079083-126079133	GM06990	blood:	n/a
32	chr7:126079083-126079133	HMEC	breast:	n/a
33	chr7:126079083-126079133	RPTEC	kidney:	n/a
34	chr7:126079083-126079133	HCT-116	colon:	n/a
35	chr7:126079083-126079133	A549	lung:	n/a
36	chr7:126079083-126079133	ovcar-3	ovarian:	n/a
37	chr7:126079083-126079133	SKMC	muscle:	n/a
38	chr7:126079083-126079133	GM12878	blood:	n/a
39	chr7:126079083-126079133	BE2_C	brain:	n/a
40	chr7:126079083-126079133	HIPEpiC	eye:	n/a
41	chr7:126079083-126079133	HRPEpiC	eye:	n/a
42	chr7:126079083-126079133	CMK	blood:	n/a
43	chr7:126079083-126079133	HPAEpiC	pulmonary alveolar:	n/a
44	chr7:126079083-126079133	NT2-D1	testis:	n/a
45	chr7:126079083-126079133	Caco-2	colon:	n/a
46	chr7:126079083-126079133	HCM	heart:	n/a
47	chr7:126079083-126079133	AG04449	skin:	fetal
48	chr7:126079083-126079133	IMR90	lung:	fetal
49	chr7:126079083-126079133	PrEC	prostate:	n/a
50	chr7:126079083-126079133	HNPCEpiC	eye:	n/a

(count:49 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:125760007..125761516-chr7:125765341..125767216,2	K562	blood:
2	chr7:125574020..125576631-chr7:125579427..125582036,2	K562	blood:
3	chr7:126082404..126082904-chr9:129703018..129703561,2	MCF-7	breast:
4	chr7:125531353..125533872-chr7:125536141..125538542,2	K562	blood:
5	chr7:125503485..125505838-chr7:125510638..125513517,2	K562	blood:
6	chr7:125782315..125785004-chr7:125785020..125787237,2	MCF-7	breast:
7	chr7:125938484..125941094-chr7:125943803..125945713,2	K562	blood:
8	chr7:125760007..125761516-chr7:125765341..125767216,2	K562	blood:
9	chr7:125981506..125983615-chr7:125985975..125988885,2	K562	blood:
10	chr7:125606198..125608530-chr7:125608776..125611774,2	K562	blood:
11	chr7:126028745..126031381-chr7:126035464..126037060,2	K562	blood:
12	chr7:125620692..125622990-chr7:125623881..125626292,2	K562	blood:
13	chr7:125870675..125872321-chr7:125874700..125877650,2	K562	blood:
14	chr1:11968074..11970490-chr7:125663203..125664731,2	MCF-7	breast:
15	chr7:125938484..125941094-chr7:125943803..125945713,2	K562	blood:
16	chr7:125970152..125973009-chr7:125974819..125977190,2	K562	blood:
17	chr7:125961680..125963760-chr7:125965307..125968021,2	K562	blood:
18	chr7:126028745..126031381-chr7:126035464..126038065,3	K562	blood:
19	chr7:125782315..125785004-chr7:125785020..125787237,2	MCF-7	breast:
20	chr7:125531353..125533872-chr7:125536141..125538542,2	K562	blood:
21	chr7:125683918..125686254-chr7:125689679..125692270,2	K562	blood:
22	chr7:125574020..125576631-chr7:125579427..125582036,2	K562	blood:
23	chr7:126104127..126105778-chr7:126106556..126109113,2	K562	blood:
24	chr7:125598344..125601168-chr7:125601374..125603496,2	K562	blood:
25	chr7:125683918..125686254-chr7:125689679..125692270,2	K562	blood:
26	chr7:125620692..125622990-chr7:125623881..125626292,2	K562	blood:
27	chr7:125717773..125720293-chr7:125877157..125879096,2	K562	blood:
28	chr7:125598344..125601168-chr7:125601374..125603496,2	K562	blood:
29	chr7:125779581..125782022-chr7:125791583..125793511,2	K562	blood:
30	chr7:125870675..125872321-chr7:125874700..125877650,2	K562	blood:
31	chr7:125779581..125782022-chr7:125791583..125793511,2	K562	blood:
32	chr7:125970925..125973009-chr7:125973551..125976319,2	K562	blood:
33	chr7:125606198..125608530-chr7:125608776..125611774,2	K562	blood:
34	chr7:125990319..125992216-chr7:125992809..125995290,2	K562	blood:
35	chr7:125970925..125973009-chr7:125973551..125976319,2	K562	blood:
36	chr7:126127310..126130214-chr7:126150191..126152367,2	K562	blood:
37	chr7:125961680..125963760-chr7:125965307..125968021,2	K562	blood:
38	7:126130122-126133705..7:126890676-126899918	H1-hESC	embryonic stem cell:	embryo
39	chr7:126121758..126123459-chr7:126162475..126164735,2	K562	blood:
40	chr7:125970152..125973009-chr7:125974819..125977190,2	K562	blood:
41	chr7:126028745..126031381-chr7:126035464..126038065,3	K562	blood:
42	chr7:125981506..125983615-chr7:125985975..125988885,2	K562	blood:
43	chr3:64659748..64660652-chr7:125742703..125743269,2	MCF-7	breast:
44	chr7:126028745..126031381-chr7:126035464..126037060,2	K562	blood:
45	chr7:125842751..125845029-chr7:125853403..125855723,2	K562	blood:
46	chr7:125717773..125720293-chr7:125877157..125879096,2	K562	blood:
47	chr7:125842751..125845029-chr7:125853403..125855723,2	K562	blood:
48	chr7:125990319..125992216-chr7:125992809..125995290,2	K562	blood:
49	chr7:125503485..125505838-chr7:125510638..125513517,2	K562	blood:

(count:25 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARF5-5	chr7:125891205-125891250	NONHSAT123116
2	lnc-ARF5-4	chr7:126064175-126064239	XLOC_006236
3	lnc-ARF5-4	chr7:126058290-126058349	XLOC_006236
4	lnc-ARF5-5	chr7:125873591-125873666	XLOC_006235
5	lnc-ARF5-6	chr7:125557925-125558172	XLOC_006234
6	lnc-ARF5-5	chr7:125873713-125873937	NONHSAT123116
7	lnc-ARF5-5	chr7:125873591-125873666	XLOC_006235
8	lnc-ARF5-5	chr7:125873591-125873666	XLOC_006235
9	lnc-ARF5-4	chr7:126055283-126055392	XLOC_006236
10	lnc-ARF5-5	chr7:125870287-125870467	XLOC_006235
11	lnc-ARF5-5	chr7:125886687-125886785	XLOC_006235
12	lnc-ARF5-5	chr7:125886687-125886768	XLOC_006235
13	lnc-ARF5-5	chr7:125924175-125924312	XLOC_006235
14	lnc-ARF5-6	chr7:125564266-125564441	XLOC_006234
15	lnc-ARF5-4	chr7:126061118-126061230	XLOC_006236
16	lnc-ARF5-6	chr7:125573828-125573886	XLOC_006234
17	lnc-ARF5-4	chr7:126019024-126019055	XLOC_006236
18	lnc-ARF5-5	chr7:125870287-125870467	XLOC_006235
19	lnc-ARF5-6	chr7:125563748-125564004	XLOC_006234
20	lnc-ARF5-4	chr7:126059887-126059999	XLOC_006236
21	lnc-ARF5-6	chr7:125560111-125560207	XLOC_006234
22	lnc-ARF5-4	chr7:126061482-126061634	XLOC_006236
23	lnc-ARF5-5	chr7:125924175-125924216	XLOC_006235
24	lnc-ARF5-5	chr7:125870287-125870467	XLOC_006235
25	lnc-ARF5-5	chr7:125886687-125886768	NONHSAT123116

No data

Variant related genes	Relation type
ENSG00000221418	TF binding region
GRM8	TF binding region
ENSG00000241921	TF binding region
ENSG00000197462	TF binding region
ENSG00000221418	CpG island
GRM8	CpG island
ENSG00000241921	CpG island
ENSG00000197462	CpG island
ENSG00000179603	chromatin interactions
ENSG00000227249	chromatin interactions
ENSG00000199347	chromatin interactions
ENSG00000201801	chromatin interactions
FBXO34	miRNA target sites
SLC31A2	miRNA target sites
SLC30A7	miRNA target sites
FBXO8	miRNA target sites
FBXW7	miRNA target sites
SLC33A1	miRNA target sites

Extended variants
information (count: 9983 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:9983 , 50 per page) page: 1 2 3 4 5 6 7 ... 200

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546671576	chr7:125488071-125488072	Enhancers Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs568469939	chr7:125488081-125488082	Enhancers Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs71576248	chr7:125488152-125488153	Enhancers Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs535937231	chr7:125488180-125488181	Enhancers Weak transcription ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs71576249	chr7:125488243-125488244	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs192360279	chr7:125488292-125488293	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs575829797	chr7:125488313-125488314	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs80208990	chr7:125488317-125488318	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs58841341	chr7:125488372-125488373	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs60021833	chr7:125488388-125488389	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs371761266	chr7:125488405-125488406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs118044011	chr7:125488420-125488421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6467054	chr7:125488428-125488429	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs568231262	chr7:125488429-125488430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567839635	chr7:125488430-125488431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs6964459	chr7:125488432-125488433	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs563018700	chr7:125488561-125488562	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530528221	chr7:125488563-125488564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538180878	chr7:125488590-125488591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564350712	chr7:125488591-125488592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528352541	chr7:125488595-125488596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546907822	chr7:125488604-125488605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568277635	chr7:125488649-125488650	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs62479931	chr7:125488660-125488661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs529275491	chr7:125488668-125488669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556783128	chr7:125488675-125488676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73720074	chr7:125488713-125488714	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs577576384	chr7:125488735-125488736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370481564	chr7:125488758-125488759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs57848463	chr7:125488766-125488767	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs567084284	chr7:125488819-125488820	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577154151	chr7:125488844-125488845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115880939	chr7:125488895-125488896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148040672	chr7:125488945-125488946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12535733	chr7:125488951-125488952	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs541381939	chr7:125489039-125489040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185600175	chr7:125489063-125489064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190117230	chr7:125489098-125489099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs113182840	chr7:125489120-125489121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34273439	chr7:125489131-125489132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564110156	chr7:125489187-125489188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192950097	chr7:125489200-125489201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111573051	chr7:125489230-125489231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184811047	chr7:125489232-125489233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189720186	chr7:125489252-125489253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73720075	chr7:125489274-125489275	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs73720076	chr7:125489299-125489300	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs533248169	chr7:125489301-125489302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs540313427	chr7:125489329-125489330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76142964	chr7:125489354-125489355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	21635232	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20858243	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Autism	19246517	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Cancer	20164919	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:570 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:125486800-125489400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:125487400-125488400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr7:125487600-125488200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr7:125487600-125488200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:125487600-125488400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr7:125487600-125488600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:125487600-125488600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:125487800-125488200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr7:125488000-125488200	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr7:125488000-125488400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:125488200-125488400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr7:125488200-125488400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:125488200-125488600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr7:125488200-125488800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr7:125488400-125488600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr7:125488400-125488600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:125488400-125488800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr7:125488400-125488800	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr7:125488400-125491400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:125488800-125489000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr7:125488800-125490200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr7:125490200-125490600	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr7:125490400-125490600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr7:125493400-125493600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr7:125515400-125515800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:125516000-125516600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
27	chr7:125516400-125518400	Enhancers	Hela-S3	cervix
28	chr7:125518400-125518800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:125518400-125518800	Flanking Active TSS	Hela-S3	cervix
30	chr7:125518800-125519200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr7:125518800-125519200	Active TSS	Hela-S3	cervix
32	chr7:125519200-125519600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:125519200-125519600	Flanking Active TSS	Hela-S3	cervix
34	chr7:125519600-125519800	Enhancers	Hela-S3	cervix
35	chr7:125533200-125534600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr7:125545600-125549200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
37	chr7:125545600-125557800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:125546200-125546800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
39	chr7:125548600-125549200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
40	chr7:125549200-125549400	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr7:125549400-125553400	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr7:125550400-125551000	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr7:125550600-125552000	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr7:125550600-125553800	Active TSS	H9 Cell Line	embryonic stem cell
45	chr7:125551000-125555800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr7:125552000-125553400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr7:125553400-125553600	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr7:125553400-125554000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
49	chr7:125553600-125555600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr7:125553800-125558000	Weak transcription	H9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links