Variant report

Variant	nsv564953
Chromosome Location	chr14:66287921-67046960
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5493)
CpG islands
(count:2201)
Chromatin interactive
region (count:246)
LncRNA
region (count:165)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5493 , 50 per page) page: 1 2 3 4 5 6 7 ... 110

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:66938316-66938720	K562	blood:	n/a	n/a
2	ARID3A	chr14:66943630-66944120	K562	blood:	n/a	n/a
3	ARID3A	chr14:66956744-66957309	HepG2	liver:	n/a	n/a
4	ARID3A	chr14:66974467-66974983	HepG2	liver:	n/a	n/a
5	ARID3A	chr14:66962189-66962849	HepG2	liver:	n/a	n/a
6	ARID3A	chr14:66426007-66426319	HepG2	liver:	n/a	n/a
7	ATF1	chr14:66568597-66568782	K562	blood:	n/a	n/a
8	ATF1	chr14:66938376-66938538	K562	blood:	n/a	n/a
9	ATF1	chr14:66695088-66695283	K562	blood:	n/a	n/a
10	ATF1	chr14:66317185-66317521	K562	blood:	n/a	n/a
11	ATF1	chr14:66943722-66944012	K562	blood:	n/a	n/a
12	ATF1	chr14:66314008-66314464	K562	blood:	n/a	n/a
13	ATF1	chr14:66406754-66407439	K562	blood:	n/a	n/a
14	ATF1	chr14:66320115-66320484	K562	blood:	n/a	n/a
15	ATF2	chr14:66416553-66416889	GM12878	blood:	n/a	n/a
16	ATF2	chr14:66975470-66976275	GM12878	blood:	n/a	n/a
17	ATF2	chr14:66416443-66416942	GM12878	blood:	n/a	n/a
18	ATF2	chr14:66865028-66865554	GM12878	blood:	n/a	n/a
19	ATF2	chr14:66974420-66974930	GM12878	blood:	n/a	n/a
20	ATF2	chr14:66406804-66407134	GM12878	blood:	n/a	n/a
21	ATF2	chr14:66974402-66975178	GM12878	blood:	n/a	n/a
22	ATF2	chr14:66406799-66407200	GM12878	blood:	n/a	n/a
23	ATF3	chr14:66406887-66407028	K562	blood:	n/a	chr14:66406994-66407009
24	ATF3	chr14:66320157-66320475	K562	blood:	n/a	chr14:66320296-66320307 chr14:66320298-66320305 chr14:66320298-66320308 chr14:66320294-66320309 chr14:66320295-66320306 chr14:66320295-66320308 chr14:66320296-66320307 chr14:66320296-66320309 chr14:66320298-66320306
25	ATF3	chr14:66406819-66407108	K562	blood:	n/a	chr14:66406994-66407009
26	BACH1	chr14:66619034-66619332	H1-hESC	embryonic stem cell:	n/a	chr14:66619184-66619198
27	BACH1	chr14:66584318-66584693	H1-hESC	embryonic stem cell:	n/a	n/a
28	BACH1	chr14:66427748-66428001	H1-hESC	embryonic stem cell:	n/a	chr14:66427851-66427865
29	BACH1	chr14:66429715-66430007	H1-hESC	embryonic stem cell:	n/a	n/a
30	BACH1	chr14:66797780-66797883	H1-hESC	embryonic stem cell:	n/a	n/a
31	BACH1	chr14:66974040-66975236	H1-hESC	embryonic stem cell:	n/a	n/a
32	BACH1	chr14:66975534-66975633	H1-hESC	embryonic stem cell:	n/a	n/a
33	BACH1	chr14:66619055-66619335	K562	blood:	n/a	chr14:66619184-66619198
34	BACH1	chr14:66477452-66477707	H1-hESC	embryonic stem cell:	n/a	n/a
35	BACH1	chr14:66475865-66476150	H1-hESC	embryonic stem cell:	n/a	n/a
36	BATF	chr14:66566631-66567016	GM12878	blood:	n/a	chr14:66566808-66566818 chr14:66566811-66566822
37	BATF	chr14:66416599-66416852	GM12878	blood:	n/a	chr14:66416732-66416743 chr14:66416729-66416739 chr14:66416733-66416743
38	BATF	chr14:66694978-66695280	GM12878	blood:	n/a	n/a
39	BATF	chr14:66566765-66567028	GM12878	blood:	n/a	chr14:66566808-66566818 chr14:66566811-66566822
40	BATF	chr14:66416572-66416914	GM12878	blood:	n/a	chr14:66416732-66416743 chr14:66416729-66416739 chr14:66416733-66416743
41	BATF	chr14:66865279-66865459	GM12878	blood:	n/a	chr14:66865339-66865350
42	BATF	chr14:66832132-66832355	GM12878	blood:	n/a	chr14:66832271-66832282
43	BATF	chr14:66832110-66832442	GM12878	blood:	n/a	chr14:66832271-66832282
44	BATF	chr14:66423566-66424023	GM12878	blood:	n/a	n/a
45	BATF	chr14:66423646-66423990	GM12878	blood:	n/a	n/a
46	BCL11A	chr14:66975710-66975903	GM12878	blood:	n/a	chr14:66975714-66975723
47	BCL11A	chr14:66416613-66416916	GM12878	blood:	n/a	chr14:66416732-66416741
48	BCL11A	chr14:66423678-66423854	GM12878	blood:	n/a	n/a
49	BCL11A	chr14:66423650-66423982	GM12878	blood:	n/a	n/a
50	BCL3	chr14:66453277-66453522	GM12878	blood:	n/a	n/a

(count:2201 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:66439955-66440005	ProgFib	skin:	n/a
2	chr14:66583879-66583929	RPTEC	kidney:	n/a
3	chr14:66974622-66974672	T-47D	breast:	n/a
4	chr14:66460413-66460463	CMK	blood:	n/a
5	chr14:66973361-66973411	Jurkat	blood:	n/a
6	chr14:66439955-66440005	ProgFib	skin:	n/a
7	chr14:66583879-66583929	RPTEC	kidney:	n/a
8	chr14:66974622-66974672	T-47D	breast:	n/a
9	chr14:66460413-66460463	CMK	blood:	n/a
10	chr14:66973361-66973411	Jurkat	blood:	n/a
11	chr14:66480492-66480542	Caco-2	colon:	n/a
12	chr14:66975372-66975422	Jurkat	blood:	n/a
13	chr14:66975372-66975422	HepG2	liver:	n/a
14	chr14:66973361-66973411	K562	blood:	n/a
15	chr14:67012668-67012718	GM19239	blood:	n/a
16	chr14:66583879-66583929	AoSMC	blood vessel:	n/a
17	chr14:66481512-66481562	SKMC	muscle:	n/a
18	chr14:66532279-66532329	CMK	blood:	n/a
19	chr14:66980127-66980177	NT2-D1	testis:	n/a
20	chr14:66975296-66975346	CMK	blood:	n/a
21	chr14:66976276-66976326	GM12892	blood:	n/a
22	chr14:66976062-66976112	HCPEpiC	choroid plexus:	n/a
23	chr14:66963628-66963678	MCF10A-Er-Src	breast:	n/a
24	chr14:66976276-66976326	Hepatocyte	liver:	n/a
25	chr14:66974904-66974954	HCPEpiC	choroid plexus:	n/a
26	chr14:66970921-66970971	AG10803	skin:	n/a
27	chr14:66701423-66701473	HRPEpiC	eye:	n/a
28	chr14:66480625-66480675	BE2_C	brain:	n/a
29	chr14:66974163-66974213	HPAEpiC	pulmonary alveolar:	n/a
30	chr14:66560996-66561046	CMK	blood:	n/a
31	chr14:66963628-66963678	RPTEC	kidney:	n/a
32	chr14:66974163-66974213	AG09309	skin:	n/a
33	chr14:66975599-66975649	A549	lung:	n/a
34	chr14:66976062-66976112	AoSMC	blood vessel:	n/a
35	chr14:66560996-66561046	HCT-116	colon:	n/a
36	chr14:66976276-66976326	ProgFib	skin:	n/a
37	chr14:66972956-66973006	PrEC	prostate:	n/a
38	chr14:66975296-66975346	IMR90	lung:	fetal
39	chr14:66701423-66701473	AG04449	skin:	fetal
40	chr14:66439955-66440005	SK-N-MC	brain:	n/a
41	chr14:66583879-66583929	HEEpiC	esophagus:	n/a
42	chr14:66288146-66288196	A549	lung:	n/a
43	chr14:66980127-66980177	GM06990	blood:	n/a
44	chr14:66532279-66532329	PFSK-1	brain:	n/a
45	chr14:66439955-66440005	Hela-S3	cervix:	n/a
46	chr14:66480625-66480675	HRCEpiC	kidney:	n/a
47	chr14:66301166-66301216	IMR90	lung:	fetal
48	chr14:66973361-66973411	BJ	skin:	n/a
49	chr14:66974634-66974684	NHBE	bronchial:	n/a
50	chr14:66460413-66460463	AG10803	skin:	n/a

(count:246 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr14:66973828..66976621-chr14:66983168..66986678,3	MCF-7	breast:
2	chr14:66281810..66282561-chr14:66425521..66426262,2	MCF-7	breast:
3	chr14:66433052..66435993-chr14:66437879..66439711,3	K562	blood:
4	chr14:66554115..66555793-chr14:66584396..66586785,2	MCF-7	breast:
5	chr14:65628473..65630943-chr14:66425441..66427693,2	MCF-7	breast:
6	chr14:66869840..66870579-chr14:67035035..67035552,2	MCF-7	breast:
7	chr1:203830542..203831291-chr14:66974502..66975449,2	Hela-S3	cervix:
8	chr11:36171264..36171928-chr14:66734278..66734780,2	MCF-7	breast:
9	chr14:66588446..66589156-chr14:66844160..66844957,2	MCF-7	breast:
10	chr14:66961069..66963949-chr14:66975127..66976775,2	K562	blood:
11	chr14:66566662..66568953-chr14:66571284..66573051,2	MCF-7	breast:
12	chr14:66427400..66429193-chr14:66535777..66538129,25	MCF-7	breast:
13	chr14:66547263..66549999-chr14:66562087..66564818,2	MCF-7	breast:
14	chr14:66427325..66428411-chr14:66537144..66538123,6	MCF-7	breast:
15	chr14:66961968..66962547-chr14:67034432..67035854,3	MCF-7	breast:
16	chr14:66288028..66293005-chr14:66294428..66297803,4	MCF-7	breast:
17	chr14:66620686..66622223-chr14:66627428..66629308,2	MCF-7	breast:
18	chr14:66428978..66429819-chr14:66537577..66538194,2	K562	blood:
19	chr14:66826086..66826716-chr14:66868369..66868913,2	MCF-7	breast:
20	chr14:66499645..66502736-chr14:66504498..66507411,3	MCF-7	breast:
21	chr1:111745353..111747736-chr14:66972613..66974748,2	MCF-7	breast:
22	chr14:66962226..66964678-chr14:66974039..66976474,4	MCF-7	breast:
23	chr14:66487758..66489942-chr14:66489951..66492637,2	MCF-7	breast:
24	chr14:66869840..66870579-chr14:67035035..67035552,2	MCF-7	breast:
25	chr14:66332081..66334699-chr14:66335847..66337619,2	MCF-7	breast:
26	chr14:66962164..66962780-chr14:67602828..67603411,2	MCF-7	breast:
27	chr14:66921061..66923583-chr14:66926009..66928849,2	K562	blood:
28	chr14:66291972..66293582-chr14:66297178..66299094,2	K562	blood:
29	chr14:66288028..66293005-chr14:66294428..66297803,4	MCF-7	breast:
30	chr14:66291972..66293582-chr14:66297178..66299094,2	K562	blood:
31	chr14:66825773..66826732-chr14:66861672..66862671,3	MCF-7	breast:
32	chr14:66525512..66527872-chr14:66531487..66534219,2	MCF-7	breast:
33	chr14:66566662..66568953-chr14:66571284..66573051,2	MCF-7	breast:
34	chr14:66376945..66378491-chr14:66381580..66383559,2	K562	blood:
35	chr14:66538173..66539744-chr14:66540903..66543785,2	MCF-7	breast:
36	chr14:66409655..66412849-chr14:66417225..66419477,3	MCF-7	breast:
37	chr14:66469881..66471429-chr14:66498120..66500167,2	MCF-7	breast:
38	chr14:66868171..66869202-chr14:67212732..67213746,3	MCF-7	breast:
39	chr14:66425926..66426823-chr14:66537370..66538030,2	MCF-7	breast:
40	chr14:66658198..66660216-chr14:66664121..66666312,2	MCF-7	breast:
41	chr14:66725117..66725617-chr3:38044558..38045262,2	MCF-7	breast:
42	chr14:66277703..66280018-chr14:66286044..66288348,2	K562	blood:
43	chr14:66396499..66397053-chr14:66425648..66426403,2	MCF-7	breast:
44	chr14:66696991..66699499-chr14:66704656..66706344,2	MCF-7	breast:
45	chr13:49549946..49550625-chr14:66379146..66379906,2	NB4	blood:
46	chr14:66291136..66291696-chr14:66425702..66426318,2	MCF-7	breast:
47	chr14:66826252..66826789-chr14:66844012..66844547,2	MCF-7	breast:
48	chr14:66974018..66977412-chr14:66988835..66991120,3	MCF-7	breast:
49	chr14:66399924..66400944-chr2:88315597..88316245,4	MCF-7	breast:
50	chr14:66559402..66562010-chr14:66563540..66565836,2	MCF-7	breast:

(count:165 , 50 per page) page: 1 2 3 4

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FUT8-2	chr14:66590379-66590542	ENSG00000258502
2	lnc-GPHN-1	chr14:66957460-66957537	NR_024338
3	lnc-GPHN-1	chr14:66955706-66955755	NONHSAT037420
4	lnc-GPHN-1	chr14:66954878-66954974	ENSG00000196553
5	lnc-GPHN-1	chr14:66965071-66965271	ENSG00000196553
6	lnc-GPHN-1	chr14:66963545-66963585	ENSG00000196553
7	lnc-GPHN-1	chr14:66953375-66953527	NR_024338
8	lnc-FUT8-2	chr14:66578260-66578489	XLOC_010856
9	lnc-CTD-2014B16.3.1-2	chr14:66972003-66972063	ENSG00000258561
10	lnc-GPHN-1	chr14:66965071-66965118	ENSG00000196553
11	lnc-FUT8-2	chr14:66592487-66592565	ENSG00000258502
12	lnc-FUT8-2	chr14:66592487-66592607	XLOC_010856
13	lnc-GPHN-1	chr14:66963545-66963585	ENSG00000196553
14	lnc-GPHN-1	chr14:66955705-66955755	ENSG00000196553
15	lnc-CTD-2014B16.3.1-1	chr14:66908663-66908837	XLOC_011056
16	lnc-GPHN-1	chr14:66964827-66964885	ENSG00000196553
17	lnc-GPHN-1	chr14:66953375-66953527	ENSG00000196553
18	lnc-CTD-2014B16.3.1-2	chr14:66962916-66963060	ENSG00000258561
19	lnc-GPHN-1	chr14:66965071-66965270	ENSG00000196553
20	lnc-GPHN-1	chr14:66963545-66963585	NR_024338
21	lnc-GPHN-1	chr14:66958344-66958403	NR_110307
22	lnc-CTD-2014B16.3.1-1	chr14:66912788-66912979	XLOC_011056
23	lnc-CTD-2014B16.3.1-1	chr14:66908663-66908837	XLOC_011056
24	lnc-FUT8-2	chr14:66589860-66590031	XLOC_010856
25	lnc-GPHN-1	chr14:66958344-66958403	ENSG00000196553
26	lnc-FUT8-2	chr14:66590379-66590542	XLOC_010856
27	lnc-FUT8-2	chr14:66584626-66584772	ENSG00000258502
28	lnc-GPHN-1	chr14:66958771-66958912	NR_024338
29	lnc-GPHN-1	chr14:66955705-66955755	NR_110307
30	lnc-GPHN-1	chr14:66953533-66953556	NONHSAT037423
31	lnc-GPHN-1	chr14:66958771-66958912	ENSG00000196553
32	lnc-GPHN-3	chr14:66897067-66897078	NONHSAT037416
33	lnc-GPHN-1	chr14:66958771-66958912	ENSG00000196553
34	lnc-GPHN-1	chr14:66957460-66957537	NR_110307
35	lnc-GPHN-1	chr14:66965071-66965271	NR_110307
36	lnc-FUT8-2	chr14:66578299-66578713	ENSG00000258502
37	lnc-GPHN-1	chr14:66963401-66963585	ENSG00000196553
38	lnc-FUT8-2	chr14:66578349-66578489	ENSG00000258502
39	lnc-CTD-2014B16.3.1-2	chr14:66975792-66976112	ENSG00000258561
40	lnc-GPHN-3	chr14:66896639-66896961	NONHSAT037416
41	lnc-CTD-2014B16.3.1-1	chr14:66926483-66927208	XLOC_011056
42	lnc-FUT8-2	chr14:66584626-66584772	ENSG00000258502
43	lnc-GPHN-1	chr14:66955705-66955755	ENSG00000196553
44	lnc-FUT8-2	chr14:66589862-66590031	ENSG00000258502
45	lnc-GPHN-1	chr14:66953125-66953270	ENSG00000196553
46	lnc-GPHN-1	chr14:66958771-66958912	NR_024339
47	lnc-CTD-2014B16.3.1-2	chr14:66715924-66715952	ENSG00000258561
48	lnc-GPHN-1	chr14:66964827-66964885	ENSG00000196553
49	lnc-FUT8-2	chr14:66590379-66590542	XLOC_010856
50	lnc-FUT8-2	chr14:66589862-66589911	ENSG00000258502

No data

Variant related genes	Relation type
ENSG00000258960	TF binding region
ENSG00000258502	TF binding region
GPHN	TF binding region
ENSG00000258847	TF binding region
YBX1P1	TF binding region
ENSG00000258561	TF binding region
ENSG00000258629	TF binding region
LINC00238	TF binding region
ENSG00000238876	TF binding region
ENSG00000200860	TF binding region
ENSG00000258960	CpG island
ENSG00000258502	CpG island
GPHN	CpG island
ENSG00000258847	CpG island
YBX1P1	CpG island
ENSG00000258561	CpG island
ENSG00000258629	CpG island
LINC00238	CpG island
ENSG00000238876	CpG island
ENSG00000200860	CpG island
ENSG00000162775	chromatin interactions
ENSG00000224861	chromatin interactions
ENSG00000258847	chromatin interactions
ENSG00000184661	chromatin interactions
ENSG00000222724	chromatin interactions
ENSG00000124155	chromatin interactions
ENSG00000115648	chromatin interactions
ENSG00000202077	chromatin interactions
ENSG00000131351	chromatin interactions
ENSG00000102531	chromatin interactions
ENSG00000171858	chromatin interactions
ENSG00000171723	chromatin interactions
ENSG00000099331	chromatin interactions
ENSG00000162777	chromatin interactions
ENSG00000182004	chromatin interactions
ENSG00000258561	chromatin interactions
ENSG00000189120	chromatin interactions
ENSG00000196553	chromatin interactions
ENSG00000120875	chromatin interactions
ENSG00000033170	chromatin interactions
CDKN1A	miRNA target sites
ZEB1	miRNA target sites
CDC37L1	miRNA target sites
ATP2B4	miRNA target sites
KEAP1	miRNA target sites
ATP5G2	miRNA target sites
ATP6AP2	miRNA target sites
CDC34	miRNA target sites
TP53INP1	miRNA target sites
YAP1	miRNA target sites
ABCA1	miRNA target sites
ZEB2	miRNA target sites
CDK9	miRNA target sites
RAB30	miRNA target sites

Extended variants
information (count: 22498 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:22498 , 50 per page) page: 1 2 3 4 5 6 7 ... 450

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3935480	chr14:66287921-66287922	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs28564247	chr14:66287938-66287939	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs527444965	chr14:66287939-66287940	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs4072776	chr14:66287974-66287975	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs373501629	chr14:66288074-66288075	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs189685135	chr14:66288109-66288110	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs140882013	chr14:66288147-66288148	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs559138895	chr14:66288187-66288188	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs144741742	chr14:66288188-66288189	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs552729748	chr14:66288232-66288233	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs201348113	chr14:66288233-66288234	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs545446371	chr14:66288268-66288269	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs538514619	chr14:66288284-66288285	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs557893467	chr14:66288300-66288301	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs147890496	chr14:66288315-66288316	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs540368035	chr14:66288355-66288356	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs553855555	chr14:66288363-66288364	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs11629235	chr14:66288374-66288375	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs542434464	chr14:66288397-66288398	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs562667437	chr14:66288412-66288413	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs531538466	chr14:66288416-66288417	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs182169079	chr14:66288484-66288485	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs11629353	chr14:66288486-66288487	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs564770655	chr14:66288501-66288502	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs527295741	chr14:66288510-66288511	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs117382219	chr14:66288511-66288512	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs112910111	chr14:66288570-66288571	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs529780808	chr14:66288584-66288585	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs549633685	chr14:66288589-66288590	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs549696318	chr14:66288594-66288595	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs11629398	chr14:66288630-66288631	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs187193947	chr14:66288635-66288636	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs191667204	chr14:66288638-66288639	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs569354877	chr14:66288664-66288665	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs533933401	chr14:66288683-66288684	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs10151826	chr14:66288741-66288742	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs573810217	chr14:66288758-66288759	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs141555933	chr14:66288759-66288760	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs529192503	chr14:66288787-66288788	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs547723364	chr14:66288796-66288797	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs8003059	chr14:66288813-66288814	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs556133544	chr14:66288825-66288826	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs543796077	chr14:66288831-66288832	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs576179842	chr14:66288850-66288851	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs539860732	chr14:66288853-66288854	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs544838850	chr14:66288856-66288857	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs565188087	chr14:66288865-66288866	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs572342642	chr14:66288872-66288873	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs74056872	chr14:66288898-66288899	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs560852812	chr14:66288929-66288930	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	23393157	CNVD
Schizophrenia	23393157	CNVD
Seizures	23393157	CNVD
Cancer	17699850	CNVD
Ovarian cancer	17699850	CNVD
Cancer	20164919	CNVD
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
early-passage human iPS cells	21368824	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
cataract	16735990	CNVD

Chromatin state (count:3602 , 50 per page) page: 1 2 3 4 5 6 7 ... 73

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66276200-66288000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:66281600-66293400	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr14:66285200-66288000	Weak transcription	Spleen	Spleen
4	chr14:66285800-66288200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:66285800-66292400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:66287200-66288600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr14:66287200-66288800	Enhancers	H9 Cell Line	embryonic stem cell
8	chr14:66287200-66288800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:66287400-66288200	Enhancers	Primary T cells fromperipheralblood	blood
10	chr14:66287600-66288600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr14:66287600-66289200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr14:66287800-66288200	Enhancers	Fetal Thymus	thymus
13	chr14:66287800-66288400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr14:66288000-66288400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr14:66288000-66288600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr14:66288000-66288800	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr14:66288200-66288400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:66288400-66289400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:66288400-66294400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr14:66288800-66293600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr14:66288800-66300800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr14:66289200-66294600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr14:66289400-66290200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr14:66290200-66292600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr14:66291000-66291600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr14:66291000-66291600	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr14:66291000-66291800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr14:66291200-66291600	Enhancers	Primary T cells from cord blood	blood
29	chr14:66291200-66291600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr14:66291200-66291600	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr14:66291200-66291600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr14:66291200-66291600	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr14:66291200-66291800	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr14:66291200-66291800	Enhancers	Dnd41	blood
35	chr14:66291400-66291600	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr14:66291400-66291800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr14:66291400-66291800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr14:66291600-66299800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr14:66291800-66294800	Weak transcription	Dnd41	blood
40	chr14:66292400-66292600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr14:66292400-66292800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr14:66292600-66292800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr14:66292600-66292800	Bivalent Enhancer	Fetal Brain Male	brain
44	chr14:66292600-66294600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr14:66292800-66293600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr14:66292800-66294400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr14:66293000-66293200	Bivalent Enhancer	Fetal Stomach	stomach
48	chr14:66293000-66294400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr14:66293400-66293600	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr14:66293400-66295400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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