Variant report

Variant	nsv1013284
Chromosome Location	chr1:214799847-214951184
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	chr1:214801287-214801860	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:214851580-214852141	HepG2	liver:	n/a	n/a
3	BACH1	chr1:214900725-214900844	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr1:214814708-214816805	K562	blood:	n/a	n/a
5	BACH1	chr1:214801311-214801357	K562	blood:	n/a	n/a
6	BACH1	chr1:214819730-214820815	K562	blood:	n/a	n/a
7	BHLHE40	chr1:214900647-214900925	HepG2	liver:	n/a	n/a
8	BHLHE40	chr1:214801338-214801822	K562	blood:	n/a	n/a
9	CEBPB	chr1:214810398-214811004	MCF-7	breast:	n/a	chr1:214810843-214810855 chr1:214810773-214810784
10	CEBPB	chr1:214843437-214843658	HepG2	liver:	n/a	n/a
11	CEBPB	chr1:214830668-214831044	IMR90	lung:	n/a	chr1:214830847-214830860 chr1:214830847-214830860 chr1:214830848-214830859 chr1:214830849-214830858 chr1:214830849-214830858 chr1:214830849-214830858 chr1:214830849-214830858 chr1:214830847-214830858
12	CEBPB	chr1:214810530-214810957	MCF-7	breast:	n/a	chr1:214810843-214810855 chr1:214810773-214810784
13	CEBPB	chr1:214830675-214831037	A549	lung:	n/a	chr1:214830847-214830860 chr1:214830847-214830860 chr1:214830848-214830859 chr1:214830849-214830858 chr1:214830849-214830858 chr1:214830849-214830858 chr1:214830849-214830858 chr1:214830847-214830858
14	CEBPB	chr1:214903328-214903334	K562	blood:	n/a	n/a
15	CEBPB	chr1:214919261-214919341	HepG2	liver:	n/a	chr1:214919286-214919297
16	CEBPB	chr1:214843415-214843673	IMR90	lung:	n/a	n/a
17	CEBPB	chr1:214827546-214827625	H1-hESC	embryonic stem cell:	n/a	chr1:214827550-214827561
18	CEBPB	chr1:214830682-214831003	Hela-S3	cervix:	n/a	chr1:214830847-214830860 chr1:214830847-214830860 chr1:214830848-214830859 chr1:214830849-214830858 chr1:214830849-214830858 chr1:214830849-214830858 chr1:214830849-214830858 chr1:214830847-214830858
19	CEBPB	chr1:214801594-214801837	A549	lung:	n/a	n/a
20	CEBPB	chr1:214927682-214927970	IMR90	lung:	n/a	n/a
21	CEBPB	chr1:214820341-214820549	A549	lung:	n/a	n/a
22	CEBPB	chr1:214843376-214843736	HepG2	liver:	n/a	n/a
23	CEBPB	chr1:214918459-214918695	HepG2	liver:	n/a	chr1:214918552-214918563
24	CEBPB	chr1:214903198-214903404	HepG2	liver:	n/a	chr1:214903317-214903328
25	CEBPB	chr1:214834086-214834891	IMR90	lung:	n/a	n/a
26	CEBPB	chr1:214843500-214843544	K562	blood:	n/a	n/a
27	CEBPB	chr1:214856975-214857193	H1-hESC	embryonic stem cell:	n/a	n/a
28	CEBPB	chr1:214827426-214827654	Hela-S3	cervix:	n/a	chr1:214827550-214827561
29	CEBPB	chr1:214811975-214812713	IMR90	lung:	n/a	n/a
30	CEBPB	chr1:214830691-214831040	HepG2	liver:	n/a	chr1:214830847-214830860 chr1:214830847-214830860 chr1:214830848-214830859 chr1:214830849-214830858 chr1:214830849-214830858 chr1:214830849-214830858 chr1:214830849-214830858 chr1:214830847-214830858
31	CEBPB	chr1:214827405-214827704	HepG2	liver:	n/a	chr1:214827550-214827561
32	CEBPB	chr1:214830736-214831011	H1-hESC	embryonic stem cell:	n/a	chr1:214830847-214830860 chr1:214830847-214830860 chr1:214830848-214830859 chr1:214830849-214830858 chr1:214830849-214830858 chr1:214830849-214830858 chr1:214830849-214830858 chr1:214830847-214830858
33	CEBPB	chr1:214881973-214882224	IMR90	lung:	n/a	n/a
34	CEBPB	chr1:214880706-214880907	IMR90	lung:	n/a	n/a
35	CEBPB	chr1:214834681-214834734	K562	blood:	n/a	n/a
36	CEBPB	chr1:214830671-214831071	A549	lung:	n/a	chr1:214830847-214830860 chr1:214830847-214830860 chr1:214830848-214830859 chr1:214830849-214830858 chr1:214830849-214830858 chr1:214830849-214830858 chr1:214830849-214830858 chr1:214830847-214830858
37	CEBPB	chr1:214801560-214801803	HepG2	liver:	n/a	n/a
38	CEBPB	chr1:214827391-214827697	A549	lung:	n/a	chr1:214827550-214827561
39	CEBPB	chr1:214918465-214918660	H1-hESC	embryonic stem cell:	n/a	chr1:214918552-214918563
40	CEBPB	chr1:214851794-214851979	HepG2	liver:	n/a	n/a
41	CEBPB	chr1:214827406-214827698	IMR90	lung:	n/a	chr1:214827550-214827561
42	CEBPB	chr1:214927766-214927987	A549	lung:	n/a	n/a
43	CEBPB	chr1:214830668-214831233	K562	blood:	n/a	chr1:214830847-214830860 chr1:214830847-214830860 chr1:214830848-214830859 chr1:214830849-214830858 chr1:214830849-214830858 chr1:214830849-214830858 chr1:214830849-214830858 chr1:214830847-214830858
44	CEBPD	chr1:214843429-214843605	HepG2	liver:	n/a	n/a
45	CHD2	chr1:214816418-214816626	K562	blood:	n/a	n/a
46	CHD2	chr1:214815353-214816052	K562	blood:	n/a	n/a
47	CHD2	chr1:214926800-214927147	K562	blood:	n/a	n/a
48	CHD2	chr1:214900867-214900893	H1-hESC	embryonic stem cell:	n/a	n/a
49	CREB1	chr1:214805499-214805886	GM12878	blood:	n/a	n/a
50	CTBP2	chr1:214856990-214857526	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:214842875-214842925	HRPEpiC	eye:	n/a
2	chr1:214837903-214837953	SKMC	muscle:	n/a
3	chr1:214926946-214926996	HMEC	breast:	n/a
4	chr1:214846567-214846617	MCF-7	breast:	n/a
5	chr1:214837903-214837953	Caco-2	colon:	n/a
6	chr1:214813712-214813762	SK-N-SH_RA	brain:	n/a
7	chr1:214837903-214837953	ProgFib	skin:	n/a
8	chr1:214842875-214842925	Hepatocyte	liver:	n/a
9	chr1:214846567-214846617	Caco-2	colon:	n/a
10	chr1:214834360-214834410	U87	brain:	n/a
11	chr1:214842875-214842925	NH-A	brain:	n/a
12	chr1:214813712-214813762	Caco-2	colon:	n/a
13	chr1:214834360-214834410	GM12891	blood:	n/a
14	chr1:214926946-214926996	MCF-7	breast:	n/a
15	chr1:214857122-214857172	HMEC	breast:	n/a
16	chr1:214926740-214926790	HCPEpiC	choroid plexus:	n/a
17	chr1:214857122-214857172	AoSMC	blood vessel:	n/a
18	chr1:214881338-214881388	SKMC	muscle:	n/a
19	chr1:214846567-214846617	Hepatocyte	liver:	n/a
20	chr1:214926946-214926996	GM12891	blood:	n/a
21	chr1:214834360-214834410	AG10803	skin:	n/a
22	chr1:214857122-214857172	HCPEpiC	choroid plexus:	n/a
23	chr1:214926917-214926967	PANC-1	pancreas:	n/a
24	chr1:214846567-214846617	K562	blood:	n/a
25	chr1:214846567-214846617	HRPEpiC	eye:	n/a
26	chr1:214832208-214832258	SK-N-MC	brain:	n/a
27	chr1:214926917-214926967	HEK293	kidney:	embryo
28	chr1:214832208-214832258	NT2-D1	testis:	n/a
29	chr1:214926946-214926996	HIPEpiC	eye:	n/a
30	chr1:214837903-214837953	SAEC	small airway:	n/a
31	chr1:214926740-214926790	GM12878	blood:	n/a
32	chr1:214834360-214834410	AG04449	skin:	fetal
33	chr1:214842875-214842925	Caco-2	colon:	n/a
34	chr1:214835694-214835744	HCF	heart:	n/a
35	chr1:214835694-214835744	NB4	blood:	n/a
36	chr1:214926946-214926996	H1-hESC	embryonic stem cell:	embryo
37	chr1:214835694-214835744	T-47D	breast:	n/a
38	chr1:214835694-214835744	AG10803	skin:	n/a
39	chr1:214835694-214835744	Hepatocyte	liver:	n/a
40	chr1:214857122-214857172	GM12892	blood:	n/a
41	chr1:214926740-214926790	HCF	heart:	n/a
42	chr1:214926917-214926967	GM12878	blood:	n/a
43	chr1:214834360-214834410	Hepatocyte	liver:	n/a
44	chr1:214857122-214857172	BJ	skin:	n/a
45	chr1:214813712-214813762	NH-A	brain:	n/a
46	chr1:214926740-214926790	SK-N-SH_RA	brain:	n/a
47	chr1:214837903-214837953	ECC-1	luminal epithelium:	n/a
48	chr1:214835694-214835744	CMK	blood:	n/a
49	chr1:214926740-214926790	SAEC	small airway:	n/a
50	chr1:214813712-214813762	HRCEpiC	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:214836037..214839768-chr1:214843506..214845441,3	K562	blood:
2	chr1:214775592..214777676-chr1:214805586..214808335,2	MCF-7	breast:
3	chr1:214834101..214834893-chr1:215690806..215691569,6	MCF-7	breast:
4	chr1:214818577..214820281-chr3:161090587..161092715,2	MCF-7	breast:
5	chr1:214839860..214842177-chr1:214843539..214846062,2	K562	blood:
6	chr1:214867721..214869870-chr1:214873799..214876588,2	K562	blood:
7	chr1:214832291..214832816-chr1:215696580..215697541,3	MCF-7	breast:
8	chr1:214808186..214810904-chr1:214813905..214816278,2	K562	blood:
9	chr1:214830099..214835545-chr1:214836589..214841157,5	K562	blood:
10	chr1:214800806..214805673-chr1:214807375..214811280,6	MCF-7	breast:
11	chr1:214810454..214812694-chr1:214817423..214819818,2	K562	blood:
12	chr1:214929273..214931149-chr1:214931765..214933333,2	K562	blood:
13	chr1:214813614..214816048-chr1:214816561..214818621,3	K562	blood:
14	chr1:214833968..214834951-chr1:215319332..215320214,6	MCF-7	breast:
15	chr1:214832044..214832744-chr1:215319419..215320008,2	MCF-7	breast:
16	chr1:214904477..214906839-chr1:214908051..214910386,2	K562	blood:
17	chr1:214826908..214828411-chr1:214831248..214833515,2	K562	blood:
18	chr1:214836468..214838785-chr1:214840006..214842640,2	K562	blood:
19	chr1:214505527..214506582-chr1:214801187..214801906,3	MCF-7	breast:
20	chr1:214833894..214834885-chr1:215699492..215700543,5	MCF-7	breast:
21	chr1:214836037..214838803-chr1:214843803..214845441,2	K562	blood:
22	chr1:214832277..214832863-chr1:215699611..215700462,2	MCF-7	breast:
23	chr1:214804097..214807282-chr1:214807582..214811109,4	K562	blood:
24	chr1:214810454..214812694-chr1:214817423..214819818,2	K562	blood:
25	chr1:214801262..214803726-chr1:214809634..214812012,2	MCF-7	breast:
26	chr1:214822003..214824820-chr1:214825524..214828117,3	K562	blood:
27	chr1:214804097..214807282-chr1:214807582..214811109,4	K562	blood:
28	chr1:214863732..214866545-chr1:214866872..214869269,3	MCF-7	breast:
29	chr1:214839860..214842177-chr1:214843539..214846062,2	K562	blood:
30	chr1:214831928..214832819-chr1:215249703..215250277,2	MCF-7	breast:
31	chr1:214848812..214851960-chr1:214852511..214855713,3	MCF-7	breast:
32	chr1:214826908..214828411-chr1:214831248..214833515,2	K562	blood:
33	chr1:214453018..214454782-chr1:214930192..214932149,2	K562	blood:
34	chr1:214387373..214389349-chr1:214805200..214808187,2	MCF-7	breast:
35	chr1:214815943..214819461-chr1:214821274..214824225,4	K562	blood:
36	chr1:214916105..214918875-chr1:214919117..214921438,2	K562	blood:
37	chr1:214916105..214918875-chr1:214919117..214921438,3	K562	blood:
38	chr1:214515058..214515630-chr1:214810706..214811356,2	MCF-7	breast:
39	chr1:214800940..214802210-chr1:214810478..214811783,6	MCF-7	breast:
40	chr1:214387921..214391479-chr1:214808622..214812122,3	MCF-7	breast:
41	chr1:214848173..214850892-chr1:214855334..214857551,2	K562	blood:
42	chr1:214916105..214918875-chr1:214919117..214921438,2	K562	blood:
43	chr1:214804097..214806246-chr1:214807582..214811806,3	K562	blood:
44	chr1:214943810..214946500-chr1:214950609..214953532,2	K562	blood:
45	chr1:214834159..214834828-chr1:215319348..215320253,3	MCF-7	breast:
46	chr1:214813614..214816048-chr1:214816561..214818621,3	K562	blood:
47	chr1:214811484..214813559-chr20:55681705..55683750,3	MCF-7	breast:
48	chr1:214818661..214820186-chr17:59886646..59888355,2	MCF-7	breast:
49	chr1:214850136..214853701-chr1:214856174..214859270,3	MCF-7	breast:
50	chr1:214848173..214850892-chr1:214853976..214857551,3	K562	blood:

Variant related genes	Relation type
CENPF	TF binding region
CENPF	CpG island
ENSG00000136636	chromatin interactions
ENSG00000117724	chromatin interactions
ENSG00000143499	chromatin interactions
ENSG00000224584	chromatin interactions
ENSG00000196542	chromatin interactions

Extended variants
information (count: 3788 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:3788 , 50 per page) page: 1 2 3 4 5 6 7 ... 76

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148625402	chr1:214799894-214799895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576906454	chr1:214799912-214799913	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549657117	chr1:214799915-214799916	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs34765856	chr1:214799979-214799980	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs545510597	chr1:214800002-214800003	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76778814	chr1:214800032-214800033	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545787729	chr1:214800048-214800049	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs569664823	chr1:214800060-214800061	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182759979	chr1:214800067-214800068	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548972734	chr1:214800084-214800085	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187284477	chr1:214800112-214800113	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs80351929	chr1:214800128-214800129	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs557996541	chr1:214800132-214800133	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs116490756	chr1:214800147-214800148	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576206448	chr1:214800157-214800158	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs142125347	chr1:214800197-214800198	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192078767	chr1:214800207-214800208	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541813055	chr1:214800226-214800227	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528079377	chr1:214800241-214800242	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150709260	chr1:214800264-214800265	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139057040	chr1:214800298-214800299	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs541107178	chr1:214800316-214800317	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548431787	chr1:214800340-214800341	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577415757	chr1:214800341-214800342	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182779656	chr1:214800374-214800375	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs17023284	chr1:214800388-214800389	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs529163958	chr1:214800457-214800458	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2666831	chr1:214800472-214800473	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs559675720	chr1:214800492-214800493	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373059817	chr1:214800494-214800495	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143877090	chr1:214800546-214800547	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551842131	chr1:214800547-214800548	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs187370845	chr1:214800561-214800562	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs146891766	chr1:214800593-214800594	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs59918378	chr1:214800600-214800601	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs113536580	chr1:214800604-214800605	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs140660859	chr1:214800632-214800633	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553424825	chr1:214800663-214800664	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs144361658	chr1:214800676-214800677	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369590551	chr1:214800713-214800714	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10686407	chr1:214800733-214800734	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534369554	chr1:214800779-214800780	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557790535	chr1:214800819-214800820	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368335548	chr1:214800861-214800862	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113828543	chr1:214800862-214800863	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7531311	chr1:214800962-214800963	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs182492713	chr1:214800965-214800966	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573526856	chr1:214801007-214801008	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs34346411	chr1:214801009-214801010	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542889536	chr1:214801015-214801016	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Liposarcoma	21253554	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
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
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	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
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
Multiple myeloma	16461302	CNVD
van der Woude syndrome	22470819	CNVD
van der Woude syndrome	20818247	CNVD
T-cell lymphomas	19863542	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
small cell lung cancer	20016488	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Holoprosencephaly	19184110	CNVD
Breast cancer	21069454	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Mental retardation	19951919	CNVD
Non-syndromic sensorineural hearing loss	17873649	CNVD
Acute myeloid leukemia	17268525	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22522925	CNVD
Primary hepatocellular	22912832	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1027 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:214777600-214800400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:214777600-214810800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:214777600-214838600	Weak transcription	Esophagus	oesophagus
4	chr1:214777800-214838400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:214778000-214839200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr1:214778200-214803600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr1:214781200-214818000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:214782000-214803800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:214783200-214817800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr1:214783400-214838800	Weak transcription	Fetal Kidney	kidney
11	chr1:214784600-214834000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:214784800-214803600	Weak transcription	Brain Germinal Matrix	brain
13	chr1:214784800-214807400	Weak transcription	Fetal Brain Female	brain
14	chr1:214785600-214819400	Strong transcription	K562	blood
15	chr1:214785600-214843800	Strong transcription	Fetal Thymus	thymus
16	chr1:214785800-214800600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:214786200-214843000	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr1:214786600-214800200	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr1:214786600-214833800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:214786600-214843200	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr1:214786800-214800400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr1:214786800-214805200	Strong transcription	Dnd41	blood
23	chr1:214786800-214843800	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr1:214787600-214842200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr1:214787800-214800400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr1:214788000-214803800	Weak transcription	Placenta	Placenta
27	chr1:214788000-214810400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr1:214788200-214820600	Weak transcription	Fetal Heart	heart
29	chr1:214788600-214803800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:214789000-214837400	Weak transcription	Small Intestine	intestine
31	chr1:214790800-214800200	Strong transcription	Hela-S3	cervix
32	chr1:214790800-214800600	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr1:214790800-214805600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr1:214791200-214800200	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr1:214793000-214807400	Strong transcription	HSMM	muscle
36	chr1:214793600-214810400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:214793800-214810200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr1:214794400-214833200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr1:214794800-214801800	Weak transcription	Duodenum Mucosa	Duodenum
40	chr1:214794800-214803800	Weak transcription	Pancreas	Pancrea
41	chr1:214795000-214801200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:214795000-214801200	Weak transcription	Fetal Brain Male	brain
43	chr1:214795000-214803200	Weak transcription	Fetal Muscle Trunk	muscle
44	chr1:214795000-214805200	Weak transcription	Primary T cells from cord blood	blood
45	chr1:214795200-214838600	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr1:214795600-214803200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr1:214795600-214803600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr1:214795600-214807600	Weak transcription	Primary B cells from cord blood	blood
49	chr1:214795800-214803800	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr1:214796000-214801800	Weak transcription	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links