Variant report

Variant	nsv548341
Chromosome Location	chr1:179945390-180067914
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:180023732-180023861	K562	blood:	n/a	n/a
2	ARID3A	chr1:180027943-180027952	K562	blood:	n/a	n/a
3	ARID3A	chr1:180022917-180023445	K562	blood:	n/a	n/a
4	ARID3A	chr1:180026837-180027685	K562	blood:	n/a	n/a
5	ATF1	chr1:180022859-180023490	K562	blood:	n/a	n/a
6	ATF1	chr1:179986755-179986766	K562	blood:	n/a	n/a
7	ATF2	chr1:179972174-179972960	GM12878	blood:	n/a	n/a
8	ATF3	chr1:180023152-180023468	K562	blood:	n/a	n/a
9	ATF3	chr1:179960014-179960325	K562	blood:	n/a	n/a
10	BACH1	chr1:180027050-180027297	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr1:180026917-180027441	K562	blood:	n/a	n/a
12	BATF	chr1:179965258-179965498	GM12878	blood:	n/a	n/a
13	BATF	chr1:179972484-179972723	GM12878	blood:	n/a	n/a
14	BCLAF1	chr1:179972185-179972836	GM12878	blood:	n/a	n/a
15	BRCA1	chr1:180067388-180068197	Hela-S3	cervix:	n/a	chr1:180067957-180067964
16	CCNT2	chr1:180023071-180023396	K562	blood:	n/a	n/a
17	CCNT2	chr1:180039551-180039603	K562	blood:	n/a	n/a
18	CEBPB	chr1:180067240-180068267	Hela-S3	cervix:	n/a	chr1:180067796-180067805 chr1:180067794-180067807 chr1:180067794-180067807 chr1:180067796-180067805 chr1:180067796-180067805
19	CEBPB	chr1:179958971-179959019	Hela-S3	cervix:	n/a	chr1:179959002-179959015 chr1:179959002-179959015 chr1:179959002-179959013
20	CEBPB	chr1:179960000-179960368	HepG2	liver:	n/a	chr1:179960185-179960198 chr1:179960185-179960196
21	CEBPB	chr1:179958820-179959041	IMR90	lung:	n/a	chr1:179959002-179959015 chr1:179959002-179959015 chr1:179959002-179959013
22	CEBPB	chr1:180067549-180068008	A549	lung:	n/a	chr1:180067796-180067805 chr1:180067794-180067807 chr1:180067794-180067807 chr1:180067796-180067805 chr1:180067796-180067805
23	CEBPB	chr1:179997108-179997690	IMR90	lung:	n/a	chr1:179997478-179997491 chr1:179997493-179997504 chr1:179997492-179997503 chr1:179997478-179997489 chr1:179997492-179997503
24	CEBPB	chr1:179961390-179961503	HepG2	liver:	n/a	chr1:179961453-179961464
25	CEBPB	chr1:180050541-180050778	A549	lung:	n/a	chr1:180050695-180050706
26	CEBPB	chr1:180012065-180012825	IMR90	lung:	n/a	n/a
27	CEBPB	chr1:180067533-180067970	K562	blood:	n/a	chr1:180067796-180067805 chr1:180067794-180067807 chr1:180067794-180067807 chr1:180067796-180067805 chr1:180067796-180067805
28	CEBPB	chr1:179959404-179959701	K562	blood:	n/a	chr1:179959546-179959557 chr1:179959544-179959561 chr1:179959545-179959556 chr1:179959545-179959558
29	CEBPB	chr1:180023140-180023488	Hela-S3	cervix:	n/a	chr1:180023303-180023316 chr1:180023303-180023316 chr1:180023304-180023315
30	CEBPB	chr1:179972021-179972265	K562	blood:	n/a	n/a
31	CEBPB	chr1:180067636-180067924	MCF-7	breast:	n/a	chr1:180067796-180067805 chr1:180067794-180067807 chr1:180067794-180067807 chr1:180067796-180067805 chr1:180067796-180067805
32	CEBPB	chr1:180056279-180056563	HepG2	liver:	n/a	chr1:180056431-180056442
33	CEBPB	chr1:180025022-180025218	K562	blood:	n/a	n/a
34	CEBPB	chr1:180023114-180023449	K562	blood:	n/a	chr1:180023303-180023316 chr1:180023303-180023316 chr1:180023304-180023315
35	CEBPB	chr1:180012982-180013252	K562	blood:	n/a	n/a
36	CEBPB	chr1:179960111-179960258	K562	blood:	n/a	chr1:179960185-179960198 chr1:179960185-179960196
37	CEBPB	chr1:180050563-180050733	HepG2	liver:	n/a	chr1:180050695-180050706
38	CEBPB	chr1:180067561-180068002	A549	lung:	n/a	chr1:180067796-180067805 chr1:180067794-180067807 chr1:180067794-180067807 chr1:180067796-180067805 chr1:180067796-180067805
39	CEBPB	chr1:179997342-179997600	A549	lung:	n/a	chr1:179997478-179997491 chr1:179997493-179997504 chr1:179997492-179997503 chr1:179997478-179997489 chr1:179997492-179997503
40	CEBPB	chr1:179960021-179960338	Hela-S3	cervix:	n/a	chr1:179960185-179960198 chr1:179960185-179960196
41	CEBPB	chr1:179959414-179959699	HepG2	liver:	n/a	chr1:179959546-179959557 chr1:179959544-179959561 chr1:179959545-179959556 chr1:179959545-179959558
42	CEBPB	chr1:179997206-179997674	Hela-S3	cervix:	n/a	chr1:179997478-179997491 chr1:179997493-179997504 chr1:179997492-179997503 chr1:179997478-179997489 chr1:179997492-179997503
43	CEBPB	chr1:179960021-179960349	H1-hESC	embryonic stem cell:	n/a	chr1:179960185-179960198 chr1:179960185-179960196
44	CEBPB	chr1:180067539-180068240	A549	lung:	n/a	chr1:180067796-180067805 chr1:180067794-180067807 chr1:180067794-180067807 chr1:180067796-180067805 chr1:180067796-180067805
45	CEBPB	chr1:180023086-180023473	K562	blood:	n/a	chr1:180023303-180023316 chr1:180023303-180023316 chr1:180023304-180023315
46	CEBPB	chr1:179959474-179959672	H1-hESC	embryonic stem cell:	n/a	chr1:179959546-179959557 chr1:179959544-179959561 chr1:179959545-179959556 chr1:179959545-179959558
47	CEBPB	chr1:180023128-180023461	HepG2	liver:	n/a	chr1:180023303-180023316 chr1:180023303-180023316 chr1:180023304-180023315
48	CEBPB	chr1:179992386-179992548	HepG2	liver:	n/a	chr1:179992470-179992483 chr1:179992471-179992482
49	CEBPB	chr1:179958955-179959052	HepG2	liver:	n/a	chr1:179959002-179959015 chr1:179959002-179959015 chr1:179959002-179959013
50	CEBPB	chr1:180067704-180068041	MCF-7	breast:	n/a	chr1:180067796-180067805 chr1:180067794-180067807 chr1:180067794-180067807 chr1:180067796-180067805 chr1:180067796-180067805

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:179945973-179946023	MCF-7	breast:	n/a
2	chr1:180012272-180012322	HNPCEpiC	eye:	n/a
3	chr1:179997704-179997754	HMEC	breast:	n/a
4	chr1:179997704-179997754	BJ	skin:	n/a
5	chr1:179945973-179946023	H1-hESC	embryonic stem cell:	embryo
6	chr1:179997704-179997754	SK-N-SH_RA	brain:	n/a
7	chr1:179997704-179997754	NHBE	bronchial:	n/a
8	chr1:180012272-180012322	HL-60	blood:	n/a
9	chr1:180012272-180012322	SKMC	muscle:	n/a
10	chr1:179997704-179997754	ProgFib	skin:	n/a
11	chr1:180012272-180012322	PFSK-1	brain:	n/a
12	chr1:179945973-179946023	HUVEC	blood vessel:	n/a
13	chr1:180012272-180012322	HRCEpiC	kidney:	n/a
14	chr1:180012272-180012322	Jurkat	blood:	n/a
15	chr1:179997704-179997754	HCF	heart:	n/a
16	chr1:179945973-179946023	AG09319	gingival:	n/a
17	chr1:180012272-180012322	SK-N-MC	brain:	n/a
18	chr1:179945973-179946023	MCF10A-Er-Src	breast:	n/a
19	chr1:179997704-179997754	AG04449	skin:	fetal
20	chr1:179997704-179997754	SKMC	muscle:	n/a
21	chr1:180012272-180012322	GM12892	blood:	n/a
22	chr1:180012272-180012322	AG09319	gingival:	n/a
23	chr1:180012272-180012322	HRE	kidney:	n/a
24	chr1:180012272-180012322	GM12878	blood:	n/a
25	chr1:179945973-179946023	HRCEpiC	kidney:	n/a
26	chr1:179945973-179946023	GM12878	blood:	n/a
27	chr1:180012272-180012322	RPTEC	kidney:	n/a
28	chr1:180012272-180012322	ECC-1	luminal epithelium:	n/a
29	chr1:180012272-180012322	SAEC	small airway:	n/a
30	chr1:179997704-179997754	NT2-D1	testis:	n/a
31	chr1:179997704-179997754	AoSMC	blood vessel:	n/a
32	chr1:179945973-179946023	GM19239	blood:	n/a
33	chr1:179945973-179946023	HepG2	liver:	n/a
34	chr1:179945973-179946023	GM06990	blood:	n/a
35	chr1:180012272-180012322	A549	lung:	n/a
36	chr1:179945973-179946023	AG04449	skin:	fetal
37	chr1:180012272-180012322	HIPEpiC	eye:	n/a
38	chr1:179945973-179946023	K562	blood:	n/a
39	chr1:179945973-179946023	HAEpiC	amniotic membrane:	n/a
40	chr1:179997704-179997754	GM12892	blood:	n/a
41	chr1:179945973-179946023	ovcar-3	ovarian:	n/a
42	chr1:180012272-180012322	NHBE	bronchial:	n/a
43	chr1:180012272-180012322	PrEC	prostate:	n/a
44	chr1:180012272-180012322	BJ	skin:	n/a
45	chr1:179945973-179946023	SK-N-SH	brain:	n/a
46	chr1:179945973-179946023	HCM	heart:	n/a
47	chr1:179997704-179997754	MCF10A-Er-Src	breast:	n/a
48	chr1:179997704-179997754	HUVEC	blood vessel:	n/a
49	chr1:179945973-179946023	BE2_C	brain:	n/a
50	chr1:180012272-180012322	K562	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:180010589..180013566-chr1:180015108..180016921,2	K562	blood:
2	chr1:179965716..179968520-chr1:179975367..179977989,2	MCF-7	breast:
3	chr1:179846821..179849157-chr1:179951247..179953699,2	MCF-7	breast:
4	chr1:179833882..179836832-chr1:180042170..180044941,2	K562	blood:
5	chr1:179851415..179853315-chr1:179949997..179952166,2	K562	blood:
6	chr1:180012630..180014181-chr1:180020336..180022043,2	K562	blood:
7	chr1:179850167..179851805-chr1:180029319..180031564,2	MCF-7	breast:
8	chr1:179845220..179846816-chr1:179967799..179969791,2	MCF-7	breast:
9	chr1:180002453..180005081-chr1:180006068..180008636,2	K562	blood:
10	chr1:180067800..180070199-chr1:180137539..180139968,2	MCF-7	breast:
11	chr1:180029884..180031484-chr1:180035395..180037562,2	MCF-7	breast:
12	chr1:179944177..179947056-chr1:179949748..179951797,3	K562	blood:
13	chr1:180023147..180025587-chr1:180027128..180029217,2	K562	blood:
14	chr1:179998094..180000667-chr1:180001189..180004534,3	MCF-7	breast:
15	chr1:179845496..179847681-chr1:180038078..180039850,2	MCF-7	breast:
16	chr1:179981310..179984198-chr1:179986094..179988310,2	K562	blood:
17	chr1:179973630..179975308-chr1:179977263..179979537,2	MCF-7	breast:
18	chr1:179851411..179853011-chr1:180019045..180021728,2	MCF-7	breast:
19	chr1:179947029..179952263-chr1:179955680..179959791,6	MCF-7	breast:
20	chr1:179850835..179853057-chr1:179952444..179954751,2	MCF-7	breast:
21	chr1:180032822..180035460-chr1:180037133..180039107,2	K562	blood:
22	chr1:179988661..179990796-chr1:179997546..179999054,2	K562	blood:
23	chr1:180048120..180049622-chr1:180134453..180137364,2	MCF-7	breast:
24	chr1:179999019..180000801-chr1:180002803..180004316,2	K562	blood:
25	chr1:179999019..180000801-chr1:180002803..180004316,2	K562	blood:
26	chr1:180023147..180025587-chr1:180027128..180029217,2	K562	blood:
27	chr1:180004347..180006390-chr1:180011468..180013460,2	K562	blood:
28	chr1:180039738..180042199-chr1:180043828..180046612,2	K562	blood:
29	chr1:179928118..179930055-chr1:179946472..179948702,2	K562	blood:
30	chr1:180003860..180005800-chr1:180007847..180009537,2	MCF-7	breast:
31	chr1:180049598..180051873-chr1:180198863..180200788,2	MCF-7	breast:
32	chr1:179836382..179837126-chr1:179997727..179998609,3	MCF-7	breast:
33	chr1:179922873..179925365-chr1:180021771..180024501,3	K562	blood:
34	chr1:180064498..180066210-chr1:180067083..180069817,2	K562	blood:
35	chr1:180009163..180012089-chr1:180014307..180016921,2	K562	blood:
36	chr1:179980682..179985119-chr1:179997024..179999746,4	MCF-7	breast:
37	chr1:180039217..180042128-chr1:180125172..180126963,2	K562	blood:
38	chr1:179951533..179953327-chr1:179955760..179958027,2	K562	blood:
39	chr1:180060328..180062536-chr1:180064967..180067433,2	MCF-7	breast:
40	chr1:179922843..179924821-chr1:179984883..179987398,2	K562	blood:
41	chr1:180032822..180035460-chr1:180037133..180039107,2	K562	blood:
42	chr1:180067070..180070022-chr1:180093157..180094949,2	K562	blood:
43	chr1:179972601..179974993-chr1:179975734..179978646,3	K562	blood:
44	chr1:179965716..179968520-chr1:179975367..179977989,2	MCF-7	breast:
45	chr1:180060321..180062626-chr1:180121553..180123534,4	MCF-7	breast:
46	chr1:179850786..179852448-chr1:180017093..180019020,2	MCF-7	breast:
47	chr1:180029884..180031484-chr1:180035395..180037562,2	MCF-7	breast:
48	chr1:179947029..179952263-chr1:179955680..179959791,6	MCF-7	breast:
49	chr1:180012692..180014319-chr1:180015730..180017884,2	MCF-7	breast:
50	chr1:179944177..179947056-chr1:179949748..179951797,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TOR1AIP2-6	chr1:179969573-179969943	NONHSAT008237

Variant related genes	Relation type
ENSG00000223450	TF binding region
CEP350	TF binding region
ENSG00000223450	CpG island
CEP350	CpG island
ENSG00000116260	chromatin interactions
ENSG00000143337	chromatin interactions
ENSG00000169905	chromatin interactions
ENSG00000260360	chromatin interactions
ENSG00000223450	chromatin interactions
ENSG00000258664	chromatin interactions
ENSG00000121454	chromatin interactions
ENSG00000135837	chromatin interactions
ENSG00000272906	chromatin interactions

Extended variants
information (count: 4384 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:4384 , 50 per page) page: 1 2 3 4 5 6 7 ... 88

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17371084	chr1:179945390-179945391	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs536389903	chr1:179945400-179945401	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs181171920	chr1:179945410-179945411	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs141880049	chr1:179945417-179945418	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs559064111	chr1:179945435-179945436	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs376732829	chr1:179945437-179945438	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs147245474	chr1:179945486-179945487	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs71649184	chr1:179945490-179945491	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs541453531	chr1:179945547-179945548	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs561746687	chr1:179945552-179945553	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs75541635	chr1:179945599-179945600	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs80092332	chr1:179945621-179945622	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs570102728	chr1:179945705-179945706	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs532800588	chr1:179945721-179945722	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs550040347	chr1:179945726-179945727	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs143806800	chr1:179945733-179945734	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs564067982	chr1:179945741-179945742	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs572887692	chr1:179945743-179945744	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs111646475	chr1:179945767-179945768	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs559980758	chr1:179945786-179945787	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs568453793	chr1:179945793-179945794	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs2477119	chr1:179945838-179945839	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs140086032	chr1:179945846-179945847	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs185762844	chr1:179945852-179945853	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs543701906	chr1:179945858-179945859	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs558908267	chr1:179945936-179945937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554741092	chr1:179945996-179945997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77044199	chr1:179946021-179946022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs150336271	chr1:179946196-179946197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190572765	chr1:179946215-179946216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541924998	chr1:179946239-179946240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12123201	chr1:179946276-179946277	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs79311522	chr1:179946277-179946278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183136395	chr1:179946283-179946284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564048996	chr1:179946303-179946304	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs80279181	chr1:179946306-179946307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552829994	chr1:179946309-179946310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560007872	chr1:179946326-179946327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540199824	chr1:179946400-179946401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186429496	chr1:179946678-179946679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568362129	chr1:179946682-179946683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs541416115	chr1:179946731-179946732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs537496117	chr1:179946747-179946748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559731150	chr1:179946846-179946847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs530127673	chr1:179946942-179946943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs570030145	chr1:179946953-179946954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542355465	chr1:179947001-179947002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs570441764	chr1:179947023-179947024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs111258271	chr1:179947087-179947088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs192476774	chr1:179947098-179947099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	16397240	CNVD
Mental retardation	17847001	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	23248035	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:3405 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179924800-179963600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:179925200-179946200	Weak transcription	Stomach Mucosa	stomach
3	chr1:179925400-179946000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:179926800-179961400	Weak transcription	A549	lung
5	chr1:179927000-179965600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr1:179936000-179946400	Weak transcription	NHLF	lung
7	chr1:179936200-179946000	Weak transcription	Fetal Lung	lung
8	chr1:179936200-179946000	Weak transcription	HepG2	liver
9	chr1:179936400-179955600	Weak transcription	Dnd41	blood
10	chr1:179936600-179958800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr1:179937800-179946200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:179938000-179983200	Weak transcription	Brain Germinal Matrix	brain
13	chr1:179938400-179948600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr1:179938600-179945400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr1:179938600-179946000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:179938600-179946000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr1:179938600-179946000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr1:179938600-179946000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr1:179938600-179954600	Weak transcription	Fetal Thymus	thymus
20	chr1:179938600-179956400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:179938600-179956800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr1:179938600-179956800	Weak transcription	Fetal Intestine Small	intestine
23	chr1:179938600-179956800	Weak transcription	Fetal Stomach	stomach
24	chr1:179938600-179957600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr1:179938600-179959000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr1:179938600-179965800	Weak transcription	Esophagus	oesophagus
27	chr1:179938600-179975800	Weak transcription	Thymus	Thymus
28	chr1:179938600-179983200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr1:179938600-179984600	Weak transcription	Lung	lung
30	chr1:179938800-179953400	Weak transcription	Fetal Intestine Large	intestine
31	chr1:179938800-179959800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr1:179939000-179945400	Weak transcription	Osteobl	bone
33	chr1:179939000-179946000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr1:179939000-179948800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:179939000-179954800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr1:179939000-179989000	Weak transcription	Gastric	stomach
37	chr1:179939200-179945800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:179939200-179946000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:179939600-179955600	Weak transcription	Primary hematopoietic stem cells	blood
40	chr1:179939800-179946000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr1:179939800-179946200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr1:179939800-179946200	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr1:179939800-179948000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr1:179939800-179956800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:179939800-179959400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr1:179939800-179974800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr1:179940000-179946000	Weak transcription	Liver	Liver
48	chr1:179940000-179953400	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr1:179940000-179961200	Weak transcription	HSMM	muscle
50	chr1:179940600-179946000	Weak transcription	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links