Variant report

Variant	nsv535955
Chromosome Location	chr2:145143961-145298714
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3326)
CpG islands
(count:4341)
Chromatin interactive
region (count:150)
LncRNA
region (count:93)
Mature miRNA
region (count: 0)
miRNA target
sites (count:68)

(count:3326 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:145263029-145263629	K562	blood:	n/a	n/a
2	ARID3A	chr2:145247814-145247823	K562	blood:	n/a	n/a
3	ARID3A	chr2:145271839-145272052	K562	blood:	n/a	n/a
4	ARID3A	chr2:145279948-145280025	K562	blood:	n/a	n/a
5	ARID3A	chr2:145218960-145219142	K562	blood:	n/a	n/a
6	ARID3A	chr2:145200977-145201674	K562	blood:	n/a	n/a
7	ARID3A	chr2:145280652-145281300	K562	blood:	n/a	n/a
8	ARID3A	chr2:145214141-145214521	K562	blood:	n/a	n/a
9	ARID3A	chr2:145237553-145237708	K562	blood:	n/a	n/a
10	ARID3A	chr2:145210157-145210637	K562	blood:	n/a	n/a
11	ARID3A	chr2:145217839-145217938	K562	blood:	n/a	n/a
12	ARID3A	chr2:145198832-145199989	K562	blood:	n/a	n/a
13	ARID3A	chr2:145173128-145173323	HepG2	liver:	n/a	n/a
14	ARID3A	chr2:145265837-145265862	K562	blood:	n/a	n/a
15	ARID3A	chr2:145222289-145222487	K562	blood:	n/a	n/a
16	ARID3A	chr2:145212428-145212963	K562	blood:	n/a	n/a
17	ARID3A	chr2:145216172-145216307	K562	blood:	n/a	n/a
18	ARID3A	chr2:145170376-145170653	HepG2	liver:	n/a	n/a
19	ARID3A	chr2:145268402-145268588	K562	blood:	n/a	n/a
20	ARID3A	chr2:145277565-145278860	K562	blood:	n/a	chr2:145277574-145277589 chr2:145278760-145278776
21	ATF1	chr2:145217578-145217845	K562	blood:	n/a	n/a
22	ATF1	chr2:145164915-145165163	K562	blood:	n/a	n/a
23	ATF1	chr2:145263151-145263495	K562	blood:	n/a	n/a
24	ATF1	chr2:145198731-145199760	K562	blood:	n/a	n/a
25	ATF1	chr2:145209965-145210907	K562	blood:	n/a	n/a
26	ATF1	chr2:145277550-145277982	K562	blood:	n/a	n/a
27	ATF1	chr2:145201535-145201781	K562	blood:	n/a	n/a
28	ATF2	chr2:145188134-145188770	GM12878	blood:	n/a	n/a
29	ATF2	chr2:145228881-145229305	GM12878	blood:	n/a	n/a
30	ATF2	chr2:145267970-145268536	H1-hESC	embryonic stem cell:	n/a	n/a
31	ATF2	chr2:145228850-145229383	GM12878	blood:	n/a	n/a
32	ATF2	chr2:145188109-145188814	GM12878	blood:	n/a	n/a
33	ATF2	chr2:145247603-145248035	GM12878	blood:	n/a	n/a
34	ATF2	chr2:145276609-145277164	GM12878	blood:	n/a	n/a
35	ATF2	chr2:145172053-145172553	GM12878	blood:	n/a	n/a
36	ATF2	chr2:145276643-145277088	GM12878	blood:	n/a	n/a
37	ATF2	chr2:145268128-145268468	GM12878	blood:	n/a	n/a
38	ATF2	chr2:145265928-145266254	GM12878	blood:	n/a	n/a
39	ATF2	chr2:145228839-145229224	H1-hESC	embryonic stem cell:	n/a	n/a
40	ATF2	chr2:145268119-145268560	GM12878	blood:	n/a	n/a
41	ATF2	chr2:145268054-145268660	H1-hESC	embryonic stem cell:	n/a	n/a
42	ATF2	chr2:145212254-145212806	GM12878	blood:	n/a	n/a
43	ATF3	chr2:145164883-145165140	K562	blood:	n/a	n/a
44	ATF3	chr2:145218869-145219245	K562	blood:	n/a	n/a
45	ATF3	chr2:145275127-145275426	K562	blood:	n/a	chr2:145275129-145275138
46	ATF3	chr2:145199118-145199708	K562	blood:	n/a	chr2:145199347-145199361
47	BACH1	chr2:145274010-145274052	H1-hESC	embryonic stem cell:	n/a	n/a
48	BACH1	chr2:145265805-145266086	K562	blood:	n/a	n/a
49	BACH1	chr2:145281492-145281694	H1-hESC	embryonic stem cell:	n/a	n/a
50	BATF	chr2:145248727-145248920	GM12878	blood:	n/a	n/a

(count:4341 , 50 per page) page: 1 2 3 4 5 6 7 ... 87

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:145274975-145275025	HAEpiC	amniotic membrane:	n/a
2	chr2:145210222-145210272	HRCEpiC	kidney:	n/a
3	chr2:145277646-145277696	HCPEpiC	choroid plexus:	n/a
4	chr2:145274975-145275025	IMR90	lung:	fetal
5	chr2:145282262-145282312	NT2-D1	testis:	n/a
6	chr2:145269644-145269694	PrEC	prostate:	n/a
7	chr2:145298195-145298245	HL-60	blood:	n/a
8	chr2:145277852-145277902	BE2_C	brain:	n/a
9	chr2:145162489-145162539	NH-A	brain:	n/a
10	chr2:145281942-145281992	BE2_C	brain:	n/a
11	chr2:145274975-145275025	HAEpiC	amniotic membrane:	n/a
12	chr2:145210222-145210272	HRCEpiC	kidney:	n/a
13	chr2:145277646-145277696	HCPEpiC	choroid plexus:	n/a
14	chr2:145274975-145275025	IMR90	lung:	fetal
15	chr2:145282262-145282312	NT2-D1	testis:	n/a
16	chr2:145269644-145269694	PrEC	prostate:	n/a
17	chr2:145298195-145298245	HL-60	blood:	n/a
18	chr2:145277852-145277902	BE2_C	brain:	n/a
19	chr2:145162489-145162539	NH-A	brain:	n/a
20	chr2:145281942-145281992	BE2_C	brain:	n/a
21	chr2:145210222-145210272	HPAEpiC	pulmonary alveolar:	n/a
22	chr2:145282262-145282312	SK-N-SH_RA	brain:	n/a
23	chr2:145184893-145184943	HL-60	blood:	n/a
24	chr2:145147450-145147500	GM06990	blood:	n/a
25	chr2:145284259-145284309	HNPCEpiC	eye:	n/a
26	chr2:145298195-145298245	SK-N-SH	brain:	n/a
27	chr2:145226929-145226979	BJ	skin:	n/a
28	chr2:145273345-145273395	MCF-7	breast:	n/a
29	chr2:145226929-145226979	GM19239	blood:	n/a
30	chr2:145275363-145275413	AG09309	skin:	n/a
31	chr2:145202065-145202115	NB4	blood:	n/a
32	chr2:145282103-145282153	PrEC	prostate:	n/a
33	chr2:145267984-145268034	SKMC	muscle:	n/a
34	chr2:145275363-145275413	Jurkat	blood:	n/a
35	chr2:145147450-145147500	SAEC	small airway:	n/a
36	chr2:145236966-145237016	K562	blood:	n/a
37	chr2:145274125-145274175	HMEC	breast:	n/a
38	chr2:145281622-145281672	NH-A	brain:	n/a
39	chr2:145274441-145274491	CMK	blood:	n/a
40	chr2:145226929-145226979	MCF10A-Er-Src	breast:	n/a
41	chr2:145278564-145278614	MCF10A-Er-Src	breast:	n/a
42	chr2:145230271-145230321	HCT-116	colon:	n/a
43	chr2:145172035-145172085	H1-hESC	embryonic stem cell:	embryo
44	chr2:145282262-145282312	SAEC	small airway:	n/a
45	chr2:145147450-145147500	BE2_C	brain:	n/a
46	chr2:145172035-145172085	NH-A	brain:	n/a
47	chr2:145281547-145281597	SK-N-MC	brain:	n/a
48	chr2:145275199-145275249	HRPEpiC	eye:	n/a
49	chr2:145248607-145248657	Caco-2	colon:	n/a
50	chr2:145210222-145210272	HRPEpiC	eye:	n/a

(count:150 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr2:145171639..145174314-chr2:145179683..145182397,2	K562	blood:
2	chr2:145197694..145199752-chr2:145203612..145206224,2	MCF-7	breast:
3	chr2:145203606..145207323-chr2:145208273..145212393,4	K562	blood:
4	chr2:145166430..145168870-chr2:145273034..145274733,2	K562	blood:
5	chr2:145244895..145246752-chr2:145253097..145254747,2	K562	blood:
6	chr2:145168398..145170194-chr2:145251175..145252860,2	K562	blood:
7	chr2:145231487..145233427-chr2:145241009..145243768,2	K562	blood:
8	chr2:145186489..145188357-chr2:145188728..145190384,2	K562	blood:
9	chr2:145170128..145171737-chr2:145173776..145175854,2	K562	blood:
10	chr2:145141149..145143987-chr2:145159675..145161885,2	K562	blood:
11	chr2:144757869..144760619-chr2:145264993..145266668,2	K562	blood:
12	chr2:145284448..145287063-chr2:145337882..145340478,2	K562	blood:
13	chr2:145201294..145201913-chr2:145209488..145210295,2	K562	blood:
14	chr2:145266442..145269166-chr2:145303925..145306331,2	K562	blood:
15	chr2:145171987..145175108-chr2:145176731..145179560,4	K562	blood:
16	chr2:145225231..145227584-chr2:145231808..145234139,2	K562	blood:
17	chr2:145179160..145181399-chr2:145182530..145184937,4	K562	blood:
18	chr2:145233808..145236461-chr2:145237287..145241572,3	K562	blood:
19	chr2:145282560..145284808-chr2:145288273..145291283,3	K562	blood:
20	chr2:145148475..145150258-chr2:145276141..145277673,2	K562	blood:
21	chr2:145231487..145233427-chr2:145241009..145243768,2	K562	blood:
22	chr2:145186231..145188359-chr2:145273055..145275396,2	K562	blood:
23	chr2:145290149..145292351-chr2:145309355..145311175,2	K562	blood:
24	chr2:145153448..145155014-chr2:145176721..145178781,2	K562	blood:
25	chr2:144907547..144909813-chr2:145165279..145167381,2	K562	blood:
26	chr18:33161363..33162220-chr2:145274089..145275089,2	MCF-7	breast:
27	chr2:145158901..145161534-chr2:145162816..145165528,2	K562	blood:
28	chr2:145088534..145090582-chr2:145236502..145239378,2	MCF-7	breast:
29	chr2:145171987..145174029-chr2:145177149..145179560,2	K562	blood:
30	chr2:145280408..145282014-chr2:145350666..145354133,3	K562	blood:
31	chr2:145257687..145260314-chr2:145338650..145340893,3	K562	blood:
32	chr2:145287554..145289481-chr2:145293100..145295084,2	MCF-7	breast:
33	chr2:145202502..145204314-chr2:145213044..145215998,2	K562	blood:
34	chr2:145160858..145164553-chr2:145171154..145174301,3	MCF-7	breast:
35	chr2:145282188..145284775-chr2:145288254..145292611,5	K562	blood:
36	chr2:145212474..145214965-chr2:145215996..145218326,2	K562	blood:
37	chr2:145186231..145188359-chr2:145273055..145275396,2	K562	blood:
38	chr2:145269791..145271356-chr2:145420869..145422777,2	K562	blood:
39	chr2:145243371..145247386-chr2:145248622..145250692,4	K562	blood:
40	chr2:145192553..145194092-chr2:145198952..145200886,2	K562	blood:
41	chr2:145209148..145210888-chr2:145417930..145420148,2	K562	blood:
42	chr2:145208126..145211307-chr2:145281043..145283584,3	K562	blood:
43	chr2:145257019..145259314-chr2:145313240..145315938,2	K562	blood:
44	chr2:145184735..145186465-chr2:145190004..145192549,2	K562	blood:
45	chr2:145244895..145246752-chr2:145253097..145254747,2	K562	blood:
46	chr2:145208190..145210940-chr2:145216077..145217655,2	MCF-7	breast:
47	chr2:145208126..145211307-chr2:145281043..145283584,3	K562	blood:
48	chr2:145200171..145201962-chr2:145244962..145247958,2	K562	blood:
49	chr2:145243371..145247386-chr2:145248622..145250692,4	K562	blood:
50	chr2:145263149..145265931-chr2:145331209..145333597,2	K562	blood:

(count:93 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARHGAP15-3	chr2:145275770-145276142	ENSG00000238057.4
2	lnc-ARHGAP15-3	chr2:145277526-145277677	ENSG00000238057.4
3	lnc-ZEB2-1	chr2:145218679-145221645	NONHSAT074762
4	lnc-ARHGAP15-3	chr2:145275973-145276142	ENSG00000238057.4
5	lnc-ARHGAP15-3	chr2:145278321-145278445	ENSG00000238057.2
6	lnc-ARHGAP15-3	chr2:145275982-145276142	ENSG00000238057.2
7	lnc-ARHGAP15-3	chr2:145276024-145276142	ENSG00000238057.4
8	lnc-ARHGAP15-15	chr2:145223112-145223294	NONHSAT074764
9	lnc-ARHGAP15-3	chr2:145275770-145276142	ENSG00000238057.4
10	lnc-ZEB2-1	chr2:145274918-145274986	NONHSAT074770
11	lnc-ZEB2-1	chr2:145274845-145274986	NONHSAT074769
12	lnc-ZEB2-1	chr2:145281131-145281395	XLOC_002344
13	lnc-ARHGAP15-3	chr2:145277782-145278136	NONHSAT074778
14	lnc-ARHGAP15-3	chr2:145278321-145278465	NR_040248
15	lnc-ZEB2-1	chr2:145281131-145281395	XLOC_002344
16	lnc-ARHGAP15-3	chr2:145275973-145276142	ENSG00000238057.4
17	lnc-ARHGAP15-3	chr2:145277782-145277940	ENSG00000238057.4
18	lnc-ARHGAP15-3	chr2:145277526-145277677	ENSG00000238057.4
19	lnc-ARHGAP15-3	chr2:145277782-145277852	NONHSAT074776
20	lnc-ARHGAP15-3	chr2:145275982-145276142	NONHSAT074775
21	lnc-ZEB2-1	chr2:145281954-145282074	NONHSAT074784
22	lnc-GTDC1-10	chr2:145164087-145164222	NONHSAT074758
23	lnc-ARHGAP15-3	chr2:145277078-145277677	ENSG00000238057.4
24	lnc-ARHGAP15-3	chr2:145276319-145276428	ENSG00000238057.4
25	lnc-ZEB2-1	chr2:145268952-145271364	NONHSAT074767
26	lnc-ARHGAP15-3	chr2:145277274-145277677	NONHSAT074779
27	lnc-ZEB2-1	chr2:145274845-145274986	NONHSAT074763
28	lnc-ZEB2-1	chr2:145278123-145278216	NONHSAT074771
29	lnc-ZEB2-1	chr2:145281954-145282147	NONHSAT074770
30	lnc-ZEB2-1	chr2:145282068-145282228	XLOC_002344
31	lnc-ARHGAP15-3	chr2:145277526-145277677	NONHSAT074778
32	lnc-ARHGAP15-3	chr2:145277782-145279058	ENSG00000238057.4
33	lnc-GTDC1-10	chr2:145162450-145163112	NONHSAT074758
34	lnc-ZEB2-1	chr2:145277506-145277775	NONHSAT074770
35	lnc-ARHGAP15-3	chr2:145277181-145277241	ENSG00000238057.2
36	lnc-ARHGAP15-3	chr2:145277403-145277934	ENSG00000238057.4
37	lnc-ARHGAP15-3	chr2:145278321-145278412	NONHSAT074776
38	lnc-ARHGAP15-3	chr2:145277078-145277652	ENSG00000238057.4
39	lnc-ZEB2-1	chr2:145274918-145274986	NONHSAT074771
40	lnc-ARHGAP15-3	chr2:145277782-145277950	ENSG00000238057.4
41	lnc-ZEB2-1	chr2:145281954-145281983	XLOC_002344
42	lnc-ARHGAP15-3	chr2:145277782-145277852	NR_040248
43	lnc-ZEB2-1	chr2:145262008-145262200	NONHSAT074766
44	lnc-ARHGAP15-3	chr2:145276090-145276142	NONHSAT074776
45	lnc-ARHGAP15-3	chr2:145277782-145277948	ENSG00000238057.4
46	lnc-ARHGAP15-3	chr2:145277526-145277677	ENSG00000238057.2
47	lnc-ARHGAP15-3	chr2:145278173-145278248	ENSG00000238057.4
48	lnc-ZEB2-1	chr2:145274845-145274986	NONHSAT074768
49	lnc-ZEB2-1	chr2:145270990-145271364	NONHSAT074769
50	lnc-ARHGAP15-14	chr2:145208235-145208447	NONHSAT074761

No data

(count:68 , 50 per page) page: 1 2

No.	miRNA target gene	miRNA name	Chromosome Location
1	ZEB2	hsa-miR-200c-3p	chr2:145146556-145146578
2	ZEB2	hsa-miR-221-3p	chr2:145186898-145186921
3	ZEB2	hsa-miR-200c-3p	chr2:145146119-145146112
4	ZEB2	hsa-miR-200b-3p	chr2:145146113-145146136
5	ZEB2	hsa-miR-200a-3p	chr2:145146277-145146295
6	ZEB2	hsa-miR-141-3p	chr2:145146236-145146261
7	ZEB2	hsa-miR-200a-3p	chr2:145146803-145146824
8	ZEB2	hsa-miR-153-3p	chr2:145146821-145146843
9	ZEB2	hsa-miR-429	chr2:145146562-145146555
10	ZEB2	hsa-miR-200b-3p	chr2:145145988-145145981
11	ZEB2	hsa-miR-429	chr2:145146619-145146643
12	ZEB2	hsa-miR-141-3p	chr2:145145982-145146004
13	ZEB2	hsa-miR-141-3p	chr2:145270071-145270097
14	ZEB2	hsa-miR-200c-3p	chr2:145145649-145145671
15	ZEB2	hsa-miR-200a-3p	chr2:145270071-145270094
16	ZEB2	hsa-miR-141-3p	chr2:145146809-145146802
17	ZEB2	hsa-miR-429	chr2:145145654-145145648
18	ZEB2	hsa-miR-200b-3p	chr2:145146625-145146619
19	ZEB2	hsa-miR-200b-3p	chr2:145146198-145146220
20	ZEB2	hsa-miR-200c-3p	chr2:145146625-145146619
21	ZEB2	hsa-miR-429	chr2:145146113-145146138
22	ZEB2	hsa-miR-200b-3p	chr2:145146556-145146580
23	ZEB2	hsa-miR-200a-3p	chr2:145146242-145146235
24	ZEB2	hsa-miR-200a-3p	chr2:145146809-145146802
25	ZEB2	hsa-miR-429	chr2:145146198-145146220
26	ZEB2	hsa-miR-221-3p	chr2:145145596-145145590
27	ZEB2	hsa-miR-205-5p	chr2:145146448-145146469
28	ZEB2	hsa-miR-429	chr2:145145988-145145981
29	ZEB2	hsa-miR-429	chr2:145146556-145146577
30	ZEB2	hsa-miR-200a-3p	chr2:145146236-145146261
31	ZEB2	hsa-miR-200b-3p	chr2:145145649-145145670
32	ZEB2	hsa-miR-200c-3p	chr2:145145654-145145648
33	ZEB2	hsa-miR-320a	chr2:145184961-145184982
34	ZEB2	hsa-miR-200b-3p	chr2:145146562-145146555
35	ZEB2	hsa-miR-181a-5p	chr2:145186827-145186848
36	ZEB2	hsa-miR-141-3p	chr2:145146277-145146295
37	ZEB2	hsa-miR-200c-3p	chr2:145146113-145146137
38	ZEB2	hsa-miR-153-3p	chr2:145146826-145146820
39	ZEB2	hsa-miR-200b-3p	chr2:145145654-145145648
40	ZEB2	hsa-miR-153-3p	chr2:145146323-145146344
41	ZEB2	hsa-miR-200c-3p	chr2:145145988-145145981
42	ZEB2	hsa-miR-429	chr2:145146204-145146197
43	ZEB2	hsa-miR-200b-3p	chr2:145146119-145146112
44	ZEB2	hsa-miR-200c-3p	chr2:145146562-145146555
45	ZEB2	hsa-miR-221-3p	chr2:145146033-145146055
46	ZEB2	hsa-miR-181a-5p	chr2:145270887-145270909
47	ZEB2	hsa-miR-181a-5p	chr2:145185745-145185767
48	ZEB2	hsa-miR-141-3p	chr2:145146803-145146821
49	ZEB2	hsa-miR-200c-3p	chr2:145146619-145146641
50	ZEB2	hsa-miR-429	chr2:145145649-145145669

Variant related genes	Relation type
ENSG00000213410	TF binding region
ENSG00000176824	TF binding region
ZEB2	TF binding region
ZEB2-AS1	TF binding region
ENSG00000213410	CpG island
ENSG00000176824	CpG island
ZEB2	CpG island
ZEB2-AS1	CpG island
ENSG00000238057	chromatin interactions
ENSG00000176824	chromatin interactions
ENSG00000169554	chromatin interactions
ENSG00000121964	chromatin interactions
ENSG00000141429	chromatin interactions
ENSG00000234940	chromatin interactions
ENSG00000213410	chromatin interactions
USP42	miRNA target sites
PLS3	miRNA target sites
ZEB2	miRNA target sites
DYRK1B	miRNA target sites

Extended variants
information (count: 4907 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:4907 , 50 per page) page: 1 2 3 4 5 6 7 ... 99

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544175073	chr2:145143964-145143965	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562379456	chr2:145143971-145143972	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188715186	chr2:145143979-145143980	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548228446	chr2:145144004-145144005	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541917502	chr2:145144019-145144020	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs181137747	chr2:145144020-145144021	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs111991965	chr2:145144070-145144071	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569944491	chr2:145144088-145144089	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139200191	chr2:145144105-145144106	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552842162	chr2:145144121-145144122	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528546849	chr2:145144284-145144285	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531937386	chr2:145144317-145144318	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs550131697	chr2:145144360-145144361	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs143539296	chr2:145144372-145144373	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535461597	chr2:145144402-145144403	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547448192	chr2:145144408-145144409	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73964989	chr2:145144449-145144450	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533735442	chr2:145144484-145144485	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs558500049	chr2:145144486-145144487	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138683759	chr2:145144500-145144501	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566578258	chr2:145144502-145144503	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556441621	chr2:145144545-145144546	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143648355	chr2:145144612-145144613	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs368524848	chr2:145144613-145144614	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs186177774	chr2:145144629-145144630	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs199966315	chr2:145144631-145144632	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541854384	chr2:145144656-145144657	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs371207073	chr2:145144715-145144716	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189175137	chr2:145144718-145144719	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs572214712	chr2:145144744-145144745	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375576732	chr2:145144815-145144816	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546354893	chr2:145144834-145144835	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559933124	chr2:145144836-145144837	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs112075123	chr2:145144963-145144964	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531956200	chr2:145144977-145144978	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558354594	chr2:145145026-145145027	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs374255477	chr2:145145034-145145035	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs547033833	chr2:145145036-145145037	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs141141594	chr2:145145044-145145045	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs79710863	chr2:145145053-145145054	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547434217	chr2:145145075-145145076	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs187376396	chr2:145145091-145145092	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs539580957	chr2:145145131-145145132	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs370864625	chr2:145145157-145145158	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs74583908	chr2:145145201-145145202	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192270522	chr2:145145249-145145250	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs556143599	chr2:145145327-145145328	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs371597487	chr2:145145348-145145349	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs574826307	chr2:145145353-145145354	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs537106016	chr2:145145417-145145418	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
Non-syndromic sensorineural hearing loss	20456320	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:6995 , 50 per page) page: 1 2 3 4 5 6 7 ... 140

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145132400-145146200	Weak transcription	NH-A	brain
2	chr2:145136200-145146200	Weak transcription	Osteobl	bone
3	chr2:145136400-145146400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:145136400-145147000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:145137800-145146200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:145137800-145146200	Weak transcription	Brain Germinal Matrix	brain
7	chr2:145137800-145146800	Weak transcription	HUVEC	blood vessel
8	chr2:145137800-145147000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:145137800-145147000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:145137800-145147200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:145138000-145145800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:145138000-145147200	Weak transcription	Aorta	Aorta
13	chr2:145138200-145146800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr2:145138400-145146800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:145138400-145146800	Weak transcription	Fetal Brain Female	brain
16	chr2:145138400-145146800	Weak transcription	Fetal Kidney	kidney
17	chr2:145138400-145147000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr2:145138400-145147200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:145138600-145144000	Weak transcription	Fetal Stomach	stomach
20	chr2:145138600-145146200	Weak transcription	Left Ventricle	heart
21	chr2:145138600-145146200	Weak transcription	Ovary	ovary
22	chr2:145138600-145146800	Weak transcription	Brain Anterior Caudate	brain
23	chr2:145138600-145146800	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr2:145138600-145147000	Weak transcription	Lung	lung
25	chr2:145138600-145147200	Weak transcription	Right Atrium	heart
26	chr2:145138800-145146200	Weak transcription	NHLF	lung
27	chr2:145139000-145147000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr2:145139600-145155800	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr2:145139600-145159800	Weak transcription	Small Intestine	intestine
30	chr2:145140400-145144200	Strong transcription	Fetal Lung	lung
31	chr2:145140800-145144400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr2:145140800-145146200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr2:145140800-145189800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr2:145141000-145146200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:145141000-145159600	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr2:145141200-145147800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:145141400-145145800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr2:145141400-145146200	Weak transcription	Primary B cells from peripheral blood	blood
39	chr2:145141400-145147200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr2:145141400-145160000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:145141400-145173000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr2:145141600-145147000	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr2:145141600-145147000	Weak transcription	Fetal Thymus	thymus
44	chr2:145141600-145149200	Weak transcription	Brain Angular Gyrus	brain
45	chr2:145141800-145146200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr2:145141800-145154800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:145142000-145146200	Weak transcription	Brain Hippocampus Middle	brain
48	chr2:145142000-145147000	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr2:145142000-145156400	Weak transcription	Dnd41	blood
50	chr2:145142000-145159400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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