Variant report

Variant	nsv901847
Chromosome Location	chr14:45797782-46607899
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2695)
CpG islands
(count:550)
Chromatin interactive
region (count:56)
LncRNA
region (count:44)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2695 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr14:46337595-46337969	GM12878	blood:	n/a	n/a
2	ATF2	chr14:46337571-46338159	GM12878	blood:	n/a	n/a
3	ATF2	chr14:46375372-46375853	GM12878	blood:	n/a	n/a
4	ATF2	chr14:46336378-46337127	GM12878	blood:	n/a	n/a
5	BACH1	chr14:46559473-46559585	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr14:46351093-46351107	H1-hESC	embryonic stem cell:	n/a	n/a
7	BATF	chr14:46375489-46375749	GM12878	blood:	n/a	n/a
8	BATF	chr14:46368023-46368235	GM12878	blood:	n/a	n/a
9	BATF	chr14:46337483-46337971	GM12878	blood:	n/a	chr14:46337729-46337740
10	BATF	chr14:46375483-46375752	GM12878	blood:	n/a	n/a
11	BATF	chr14:46337483-46338059	GM12878	blood:	n/a	chr14:46337729-46337740
12	BATF	chr14:46336397-46337076	GM12878	blood:	n/a	n/a
13	BCL11A	chr14:46337474-46337979	GM12878	blood:	n/a	n/a
14	BCL11A	chr14:46337580-46337867	GM12878	blood:	n/a	n/a
15	BCL11A	chr14:46338183-46338481	GM12878	blood:	n/a	n/a
16	BCL11A	chr14:46375429-46375807	GM12878	blood:	n/a	n/a
17	BCL3	chr14:46336621-46336979	GM12878	blood:	n/a	n/a
18	BCL3	chr14:46337522-46337975	GM12878	blood:	n/a	n/a
19	BCL3	chr14:46337578-46337949	GM12878	blood:	n/a	n/a
20	BCLAF1	chr14:46337617-46337960	GM12878	blood:	n/a	n/a
21	BHLHE40	chr14:46337665-46337965	GM12878	blood:	n/a	n/a
22	CBX3	chr14:46213002-46213438	HCT-116	colon:	n/a	n/a
23	CBX3	chr14:46256472-46256659	K562	blood:	n/a	n/a
24	CBX3	chr14:46517423-46517924	HCT-116	colon:	n/a	n/a
25	CEBPB	chr14:46388540-46388874	HepG2	liver:	n/a	chr14:46388709-46388720
26	CEBPB	chr14:46094194-46094315	H1-hESC	embryonic stem cell:	n/a	n/a
27	CEBPB	chr14:45893200-45893264	A549	lung:	n/a	n/a
28	CEBPB	chr14:46248535-46248671	HepG2	liver:	n/a	chr14:46248607-46248618
29	CEBPB	chr14:46388540-46388897	IMR90	lung:	n/a	chr14:46388709-46388720
30	CEBPB	chr14:46504563-46504826	IMR90	lung:	n/a	chr14:46504676-46504687
31	CEBPB	chr14:46504576-46504826	HepG2	liver:	n/a	chr14:46504676-46504687
32	CEBPB	chr14:46321607-46321769	A549	lung:	n/a	n/a
33	CEBPB	chr14:46357543-46357739	H1-hESC	embryonic stem cell:	n/a	n/a
34	CEBPB	chr14:46055949-46056230	HepG2	liver:	n/a	chr14:46056048-46056059
35	CEBPB	chr14:46309387-46309957	HepG2	liver:	n/a	chr14:46309800-46309811
36	CEBPB	chr14:46504544-46504822	A549	lung:	n/a	chr14:46504676-46504687
37	CEBPB	chr14:46000477-46000804	HepG2	liver:	n/a	chr14:46000620-46000631
38	CEBPB	chr14:46270317-46270820	A549	lung:	n/a	chr14:46270518-46270529
39	CEBPB	chr14:46441220-46441420	H1-hESC	embryonic stem cell:	n/a	chr14:46441316-46441327
40	CEBPB	chr14:46242879-46243131	IMR90	lung:	n/a	chr14:46243004-46243015
41	CEBPB	chr14:46477968-46478185	HepG2	liver:	n/a	n/a
42	CEBPB	chr14:46560063-46560127	K562	blood:	n/a	chr14:46560066-46560079 chr14:46560067-46560078 chr14:46560068-46560077 chr14:46560066-46560077 chr14:46560066-46560079
43	CEBPB	chr14:46031190-46031458	HepG2	liver:	n/a	chr14:46031347-46031358
44	CEBPB	chr14:46559949-46560242	HepG2	liver:	n/a	chr14:46560066-46560079 chr14:46560067-46560078 chr14:46560068-46560077 chr14:46560066-46560077 chr14:46560066-46560079
45	CEBPB	chr14:46559908-46560222	IMR90	lung:	n/a	chr14:46560066-46560079 chr14:46560067-46560078 chr14:46560068-46560077 chr14:46560066-46560077 chr14:46560066-46560079
46	CEBPB	chr14:46441175-46441403	HepG2	liver:	n/a	chr14:46441316-46441327
47	CEBPB	chr14:46242906-46243113	HepG2	liver:	n/a	chr14:46243004-46243015
48	CEBPB	chr14:45831065-45831305	HepG2	liver:	n/a	chr14:45831179-45831190 chr14:45831134-45831145
49	CEBPB	chr14:45902361-45902662	IMR90	lung:	n/a	n/a
50	CEBPB	chr14:46523694-46524102	IMR90	lung:	n/a	n/a

(count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:45870299-45870349	MCF-7	breast:	n/a
2	chr14:45870299-45870349	MCF-7	breast:	n/a
3	chr14:46358279-46358329	AG10803	skin:	n/a
4	chr14:46358139-46358189	H1-hESC	embryonic stem cell:	embryo
5	chr14:45870299-45870349	HEK293	kidney:	embryo
6	chr14:45930824-45930874	HL-60	blood:	n/a
7	chr14:45930824-45930874	Hepatocyte	liver:	n/a
8	chr14:45930824-45930874	AG09309	skin:	n/a
9	chr14:46283117-46283167	Caco-2	colon:	n/a
10	chr14:46283172-46283222	HL-60	blood:	n/a
11	chr14:46283172-46283222	BJ	skin:	n/a
12	chr14:45840127-45840177	A549	lung:	n/a
13	chr14:45930824-45930874	LNCaP	prostate:	n/a
14	chr14:45930824-45930874	MCF-7	breast:	n/a
15	chr14:45840127-45840177	U87	brain:	n/a
16	chr14:46358139-46358189	HCT-116	colon:	n/a
17	chr14:46283172-46283222	SK-N-SH_RA	brain:	n/a
18	chr14:46283172-46283222	HMEC	breast:	n/a
19	chr14:46241576-46241626	HUVEC	blood vessel:	n/a
20	chr14:46283117-46283167	NHDF-neo	bronchial:	n/a
21	chr14:46358139-46358189	NHDF-neo	bronchial:	n/a
22	chr14:45930824-45930874	AG04449	skin:	fetal
23	chr14:46283172-46283222	MCF10A-Er-Src	breast:	n/a
24	chr14:46241576-46241626	HEK293	kidney:	embryo
25	chr14:46300358-46300408	PrEC	prostate:	n/a
26	chr14:46283117-46283167	HRCEpiC	kidney:	n/a
27	chr14:45840127-45840177	SKMC	muscle:	n/a
28	chr14:46300358-46300408	A549	lung:	n/a
29	chr14:46358139-46358189	HEK293	kidney:	embryo
30	chr14:45930824-45930874	GM12891	blood:	n/a
31	chr14:46283117-46283167	PANC-1	pancreas:	n/a
32	chr14:46283172-46283222	HAEpiC	amniotic membrane:	n/a
33	chr14:45840127-45840177	Caco-2	colon:	n/a
34	chr14:46241576-46241626	NHDF-neo	bronchial:	n/a
35	chr14:46283117-46283167	AG09319	gingival:	n/a
36	chr14:45840127-45840177	PrEC	prostate:	n/a
37	chr14:45840127-45840177	H1-hESC	embryonic stem cell:	embryo
38	chr14:46241576-46241626	HMEC	breast:	n/a
39	chr14:46283172-46283222	CMK	blood:	n/a
40	chr14:46358279-46358329	SK-N-SH	brain:	n/a
41	chr14:46358139-46358189	HNPCEpiC	eye:	n/a
42	chr14:46358279-46358329	HUVEC	blood vessel:	n/a
43	chr14:46241576-46241626	Caco-2	colon:	n/a
44	chr14:46300358-46300408	GM12878	blood:	n/a
45	chr14:46358279-46358329	ProgFib	skin:	n/a
46	chr14:46241576-46241626	ECC-1	luminal epithelium:	n/a
47	chr14:45930824-45930874	GM12892	blood:	n/a
48	chr14:45840127-45840177	SK-N-MC	brain:	n/a
49	chr14:46283172-46283222	HNPCEpiC	eye:	n/a
50	chr14:46241576-46241626	GM12891	blood:	n/a

(count:56 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr14:46517075..46517958-chr14:46813262..46814074,4	MCF-7	breast:
2	chr14:46346207..46348483-chr14:46349392..46352093,2	K562	blood:
3	chr14:46368837..46370409-chr14:46372784..46375382,2	K562	blood:
4	chr14:46038732..46040536-chr14:46054530..46057374,2	K562	blood:
5	chr14:46038732..46040536-chr14:46054530..46057374,2	K562	blood:
6	chr14:46368837..46370409-chr14:46372784..46375382,2	K562	blood:
7	chr12:122908054..122908892-chr14:46408991..46409734,2	MCF-7	breast:
8	chr14:46090382..46092001-chr17:58682515..58685367,2	MCF-7	breast:
9	chr14:45895702..45896616-chr14:45996086..45997189,11	MCF-7	breast:
10	chr14:46185495..46186349-chr14:46307923..46308469,2	MCF-7	breast:
11	chr14:46253596..46255101-chr14:46269085..46271326,2	K562	blood:
12	chr14:46385119..46386937-chr14:46388253..46390395,2	MCF-7	breast:
13	chr14:46253596..46255101-chr14:46269085..46271326,2	K562	blood:
14	chr14:45835845..45838000-chr14:45843048..45845340,2	K562	blood:
15	chr14:45827598..45829425-chr14:45832240..45834984,2	MCF-7	breast:
16	chr14:45833660..45834242-chr14:45996510..45997327,3	MCF-7	breast:
17	chr14:46557288..46558270-chr17:53789584..53790485,2	MCF-7	breast:
18	chr14:46120979..46122575-chr14:46124329..46126907,2	K562	blood:
19	chr14:45973970..45976424-chr14:45980516..45983044,2	MCF-7	breast:
20	chr14:45827598..45829425-chr14:45832240..45834984,2	MCF-7	breast:
21	chr14:46147376..46147982-chr14:46279500..46280082,2	MCF-7	breast:
22	chr14:46517458..46517985-chr14:47049934..47050581,2	MCF-7	breast:
23	chr14:46119850..46120526-chr14:46279646..46280307,2	MCF-7	breast:
24	chr14:45895709..45896868-chr14:45996158..45997180,10	MCF-7	breast:
25	chr14:46079191..46080200-chr14:46279301..46280311,3	MCF-7	breast:
26	chr14:46119850..46120526-chr14:46279646..46280307,2	MCF-7	breast:
27	chr14:45980303..45983033-chr14:45994308..45996794,2	MCF-7	breast:
28	chr14:46147376..46147982-chr14:46279500..46280082,2	MCF-7	breast:
29	chr14:46185447..46186022-chr14:46279860..46280372,3	MCF-7	breast:
30	chr14:46139668..46140618-chr4:151721697..151722558,2	MCF-7	breast:
31	chr14:46182590..46185086-chr14:46185381..46187428,2	MCF-7	breast:
32	chr14:46185447..46186022-chr14:46279860..46280372,3	MCF-7	breast:
33	chr14:46147083..46148164-chr14:46409225..46410271,4	MCF-7	breast:
34	chr10:29154738..29155346-chr14:46193775..46194564,2	MCF-7	breast:
35	chr14:46185365..46185918-chr14:46409681..46410218,2	MCF-7	breast:
36	chr14:45932172..45934812-chr14:45938386..45940699,2	K562	blood:
37	chr14:45833828..45835787-chr14:45839702..45842192,2	K562	blood:
38	chr14:45833660..45834242-chr14:45996510..45997327,3	MCF-7	breast:
39	chr14:46079191..46080200-chr14:46279301..46280311,3	MCF-7	breast:
40	chr14:46185495..46186349-chr14:46307923..46308469,2	MCF-7	breast:
41	chr14:45895709..45896868-chr14:45996158..45997180,10	MCF-7	breast:
42	chr14:46308036..46308555-chr14:46409283..46409960,2	MCF-7	breast:
43	chr14:45833828..45835787-chr14:45839702..45842192,2	K562	blood:
44	chr14:46385119..46386937-chr14:46388253..46390395,2	MCF-7	breast:
45	chr14:45932172..45934812-chr14:45938386..45940699,2	K562	blood:
46	chr14:46120979..46122575-chr14:46124329..46126907,2	K562	blood:
47	chr14:46375125..46377270-chr14:46379726..46383333,3	K562	blood:
48	chr14:45973970..45976424-chr14:45980516..45983044,2	MCF-7	breast:
49	chr14:45835845..45838000-chr14:45843048..45845340,2	K562	blood:
50	chr14:46375125..46377270-chr14:46379726..46383333,3	K562	blood:

(count:44 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MIS18BP1-1	chr14:46175461-46175705	ENSG00000258616
2	lnc-FANCM-5	chr14:46217809-46217860	XLOC_010816
3	lnc-FANCM-5	chr14:46217809-46217840	NONHSAT036670
4	lnc-FANCM-5	chr14:46213235-46213370	NONHSAT036670
5	lnc-FANCM-6	chr14:46410146-46410221	ENSG00000258700
6	lnc-FANCM-5	chr14:46217809-46217893	NONHSAT036668
7	lnc-MIS18BP1-1	chr14:46184553-46184894	ENSG00000258616
8	lnc-MIS18BP1-1	chr14:46175461-46175705	ENSG00000258616
9	lnc-MIS18BP1-1	chr14:46183487-46183656	ENSG00000258616
10	lnc-FANCM-5	chr14:46241338-46241424	NONHSAT036671
11	lnc-FANCM-10	chr14:46484296-46484458	NONHSAT036677
12	lnc-FANCM-5	chr14:46179124-46179145	NONHSAT036668
13	lnc-FANCM-6	chr14:46533362-46533419	NONHSAT036678
14	lnc-MIS18BP1-1	chr14:46177058-46177101	NONHSAT036666
15	lnc-FANCM-10	chr14:46483700-46483934	NONHSAT036677
16	lnc-MIS18BP1-1	chr14:46175463-46175705	ENSG00000258616
17	lnc-FANCM-5	chr14:46241612-46241659	NONHSAT036671
18	lnc-MIS18BP1-1	chr14:46183487-46183623	ENSG00000258616
19	lnc-FANCM-5	chr14:46195358-46195474	NONHSAT036670
20	lnc-MIS18BP1-1	chr14:46184553-46185155	ENSG00000258616
21	lnc-MIS18BP1-1	chr14:46184553-46185114	NONHSAT036666
22	lnc-MIS18BP1-1	chr14:46177039-46177101	ENSG00000258616
23	lnc-FANCM-9	chr14:46359392-46359577	NONHSAT036675
24	lnc-FANCM-5	chr14:46241339-46241424	XLOC_010816
25	lnc-FANCM-4	chr14:46037729-46038272	ENSG00000258845
26	lnc-FANCM-6	chr14:46533362-46533419	NONHSAT036679
27	lnc-MIS18BP1-1	chr14:46175495-46175705	XLOC_011012
28	lnc-FANCM-5	chr14:46217539-46217865	NONHSAT036671
29	lnc-MIS18BP1-1	chr14:46181102-46181226	XLOC_011012
30	lnc-FANCM-6	chr14:46533362-46533419	ENSG00000258700
31	lnc-FANCM-4	chr14:46037198-46037298	ENSG00000258845
32	lnc-FANCM-5	chr14:46213325-46213370	XLOC_010816
33	lnc-MIS18BP1-1	chr14:46175453-46175705	ENSG00000258616
34	lnc-MIS18BP1-1	chr14:46175475-46175705	ENSG00000258616
35	lnc-FANCM-5	chr14:46213235-46213370	NONHSAT036668
36	lnc-FANCM-5	chr14:46241613-46241659	XLOC_010816
37	lnc-MIS18BP1-1	chr14:46181102-46181156	ENSG00000258616
38	lnc-MIS18BP1-1	chr14:46183487-46183634	ENSG00000258616
39	lnc-MIS18BP1-1	chr14:46181102-46181156	ENSG00000258616
40	lnc-FANCM-5	chr14:46213166-46213370	NONHSAT036671
41	lnc-FANCM-9	chr14:46376825-46376872	NONHSAT036675
42	lnc-MIS18BP1-1	chr14:46184553-46184690	ENSG00000258616
43	lnc-MIS18BP1-1	chr14:46184553-46185084	NONHSAT036669
44	lnc-MIS18BP1-1	chr14:46183506-46183653	NONHSAT036669

No data

Variant related genes	Relation type
ENSG00000260046	TF binding region
ENSG00000258616	TF binding region
ENSG00000257900	TF binding region
ENSG00000258746	TF binding region
ENSG00000258845	TF binding region
ENSG00000264420	TF binding region
LINC00871	TF binding region
ENSG00000260046	CpG island
ENSG00000258616	CpG island
ENSG00000257900	CpG island
ENSG00000258746	CpG island
ENSG00000258845	CpG island
ENSG00000264420	CpG island
LINC00871	CpG island
ENSG00000258616	chromatin interactions
ENSG00000258700	chromatin interactions
ENSG00000100442	chromatin interactions
CNOT6L	miRNA target sites
IGF2BP3	miRNA target sites

Extended variants
information (count: 10986 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:10986 , 50 per page) page: 1 2 3 4 5 6 7 ... 220

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28591161	chr14:45801272-45801273	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs191655361	chr14:45801274-45801275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567405573	chr14:45801306-45801307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs28468679	chr14:45801346-45801347	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs76013481	chr14:45801369-45801370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs1951482	chr14:45801418-45801419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138436857	chr14:45801457-45801458	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558072834	chr14:45801515-45801516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs11849336	chr14:45801531-45801532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543664661	chr14:45801555-45801556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181242424	chr14:45801618-45801619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185352248	chr14:45801623-45801624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs142768908	chr14:45801630-45801631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540804813	chr14:45801655-45801656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs147351968	chr14:45801661-45801662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12435343	chr14:45801705-45801706	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs111841525	chr14:45801724-45801725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563233860	chr14:45801796-45801797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs77142864	chr14:45801798-45801799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs549268628	chr14:45801912-45801913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190020325	chr14:45801913-45801914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182307493	chr14:45801916-45801917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547623578	chr14:45801927-45801928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566158169	chr14:45801970-45801971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373647934	chr14:45802011-45802012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs137950305	chr14:45802043-45802044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372390151	chr14:45802072-45802073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs375381553	chr14:45802145-45802146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs143425950	chr14:45802165-45802166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187858834	chr14:45802170-45802171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556011249	chr14:45802180-45802181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs117297578	chr14:45802209-45802210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547166231	chr14:45802214-45802215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541213889	chr14:45802306-45802307	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559222141	chr14:45802322-45802323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577821007	chr14:45802408-45802409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs191980085	chr14:45802498-45802499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs77267839	chr14:45802516-45802517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530481316	chr14:45802575-45802576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535828464	chr14:45802607-45802608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556445709	chr14:45802644-45802645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs55919016	chr14:45802660-45802661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs139147479	chr14:45802712-45802713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs549039535	chr14:45802736-45802737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs183896361	chr14:45802744-45802745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs188440094	chr14:45802753-45802754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs189024227	chr14:45809601-45809602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs193183271	chr14:45809602-45809603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs552502506	chr14:45809636-45809637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs185116202	chr14:45809658-45809659	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

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
Colorectal cancer	16774939	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
Endometrioid adenocarcinoma	16974079	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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21364760	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Glioblastoma multiforme	21390271	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Cancer	19907438	CNVD

Chromatin state (count:836 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45801200-45801800	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr14:45801400-45802600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr14:45801800-45802200	Enhancers	Fetal Heart	heart
4	chr14:45801800-45802600	Enhancers	Left Ventricle	heart
5	chr14:45801800-45802800	Enhancers	Adipose Nuclei	Adipose
6	chr14:45802000-45802600	Enhancers	Psoas Muscle	Psoas
7	chr14:45809600-45810400	Enhancers	Colon Smooth Muscle	Colon
8	chr14:45813400-45813600	Enhancers	Gastric	stomach
9	chr14:45814600-45815200	Active TSS	Right Atrium	heart
10	chr14:45814800-45815400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr14:45815000-45815400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr14:45822400-45822800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr14:45822400-45822800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr14:45822400-45822800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr14:45822400-45823000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr14:45822600-45823000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr14:45822600-45823400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr14:45830400-45831600	Enhancers	Fetal Heart	heart
19	chr14:45832200-45832400	Enhancers	Right Atrium	heart
20	chr14:45833200-45834200	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr14:45833800-45834400	Enhancers	Adipose Nuclei	Adipose
22	chr14:45833800-45834600	Enhancers	Right Atrium	heart
23	chr14:45837000-45837200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr14:45837200-45839800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr14:45837400-45841600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:45837600-45837800	Enhancers	H9 Cell Line	embryonic stem cell
27	chr14:45837800-45838000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr14:45837800-45838600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr14:45838000-45839000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr14:45838600-45838800	Enhancers	H9 Cell Line	embryonic stem cell
31	chr14:45839000-45840400	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr14:45839400-45840400	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr14:45839600-45840200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr14:45839600-45840400	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr14:45839600-45840600	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr14:45839800-45840600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr14:45839800-45840800	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr14:45840000-45840400	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr14:45840000-45840600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr14:45840200-45843200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr14:45840400-45842800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr14:45840400-45843000	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr14:45840400-45843000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr14:45840400-45843200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr14:45840600-45842800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr14:45840600-45843000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr14:45840800-45843000	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr14:45841600-45841800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr14:45841800-45843000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr14:45842800-45843400	Enhancers	HUES64 Cell Line	embryonic stem cell

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