Variant report

Variant	nsv535956
Chromosome Location	chr2:145178224-145311097
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3142)
CpG islands
(count:3851)
Chromatin interactive
region (count:137)
LncRNA
region (count:91)
Mature miRNA
region (count: 0)
miRNA target
sites (count:8)

(count:3142 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:145214141-145214521	K562	blood:	n/a	n/a
2	ARID3A	chr2:145237553-145237708	K562	blood:	n/a	n/a
3	ARID3A	chr2:145310902-145311348	K562	blood:	n/a	n/a
4	ARID3A	chr2:145268402-145268588	K562	blood:	n/a	n/a
5	ARID3A	chr2:145263029-145263629	K562	blood:	n/a	n/a
6	ARID3A	chr2:145271839-145272052	K562	blood:	n/a	n/a
7	ARID3A	chr2:145210157-145210637	K562	blood:	n/a	n/a
8	ARID3A	chr2:145218960-145219142	K562	blood:	n/a	n/a
9	ARID3A	chr2:145217839-145217938	K562	blood:	n/a	n/a
10	ARID3A	chr2:145279948-145280025	K562	blood:	n/a	n/a
11	ARID3A	chr2:145280652-145281300	K562	blood:	n/a	n/a
12	ARID3A	chr2:145212428-145212963	K562	blood:	n/a	n/a
13	ARID3A	chr2:145277565-145278860	K562	blood:	n/a	chr2:145277574-145277589 chr2:145278760-145278776
14	ARID3A	chr2:145247814-145247823	K562	blood:	n/a	n/a
15	ARID3A	chr2:145198832-145199989	K562	blood:	n/a	n/a
16	ARID3A	chr2:145200977-145201674	K562	blood:	n/a	n/a
17	ARID3A	chr2:145222289-145222487	K562	blood:	n/a	n/a
18	ARID3A	chr2:145216172-145216307	K562	blood:	n/a	n/a
19	ARID3A	chr2:145265837-145265862	K562	blood:	n/a	n/a
20	ATF1	chr2:145263151-145263495	K562	blood:	n/a	n/a
21	ATF1	chr2:145201535-145201781	K562	blood:	n/a	n/a
22	ATF1	chr2:145217578-145217845	K562	blood:	n/a	n/a
23	ATF1	chr2:145209965-145210907	K562	blood:	n/a	n/a
24	ATF1	chr2:145198731-145199760	K562	blood:	n/a	n/a
25	ATF1	chr2:145310958-145311300	K562	blood:	n/a	n/a
26	ATF1	chr2:145277550-145277982	K562	blood:	n/a	n/a
27	ATF2	chr2:145247603-145248035	GM12878	blood:	n/a	n/a
28	ATF2	chr2:145188134-145188770	GM12878	blood:	n/a	n/a
29	ATF2	chr2:145268054-145268660	H1-hESC	embryonic stem cell:	n/a	n/a
30	ATF2	chr2:145228839-145229224	H1-hESC	embryonic stem cell:	n/a	n/a
31	ATF2	chr2:145212254-145212806	GM12878	blood:	n/a	n/a
32	ATF2	chr2:145267970-145268536	H1-hESC	embryonic stem cell:	n/a	n/a
33	ATF2	chr2:145265928-145266254	GM12878	blood:	n/a	n/a
34	ATF2	chr2:145228881-145229305	GM12878	blood:	n/a	n/a
35	ATF2	chr2:145268128-145268468	GM12878	blood:	n/a	n/a
36	ATF2	chr2:145228850-145229383	GM12878	blood:	n/a	n/a
37	ATF2	chr2:145268119-145268560	GM12878	blood:	n/a	n/a
38	ATF2	chr2:145276643-145277088	GM12878	blood:	n/a	n/a
39	ATF2	chr2:145188109-145188814	GM12878	blood:	n/a	n/a
40	ATF2	chr2:145276609-145277164	GM12878	blood:	n/a	n/a
41	ATF3	chr2:145199118-145199708	K562	blood:	n/a	chr2:145199347-145199361
42	ATF3	chr2:145275127-145275426	K562	blood:	n/a	chr2:145275129-145275138
43	ATF3	chr2:145218869-145219245	K562	blood:	n/a	n/a
44	BACH1	chr2:145274010-145274052	H1-hESC	embryonic stem cell:	n/a	n/a
45	BACH1	chr2:145310962-145311316	K562	blood:	n/a	chr2:145311102-145311116
46	BACH1	chr2:145265805-145266086	K562	blood:	n/a	n/a
47	BACH1	chr2:145281492-145281694	H1-hESC	embryonic stem cell:	n/a	n/a
48	BATF	chr2:145212281-145212766	GM12878	blood:	n/a	n/a
49	BATF	chr2:145188248-145188586	GM12878	blood:	n/a	n/a
50	BATF	chr2:145268125-145268565	GM12878	blood:	n/a	n/a

(count:3851 , 50 per page) page: 1 2 3 4 5 6 7 ... 78

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:145189102-145189152	HEK293	kidney:	embryo
2	chr2:145274874-145274924	ECC-1	luminal epithelium:	n/a
3	chr2:145282262-145282312	AoSMC	blood vessel:	n/a
4	chr2:145230271-145230321	HIPEpiC	eye:	n/a
5	chr2:145277646-145277696	HIPEpiC	eye:	n/a
6	chr2:145273776-145273826	AG10803	skin:	n/a
7	chr2:145273297-145273347	CMK	blood:	n/a
8	chr2:145271307-145271357	AoSMC	blood vessel:	n/a
9	chr2:145189102-145189152	HEK293	kidney:	embryo
10	chr2:145274874-145274924	ECC-1	luminal epithelium:	n/a
11	chr2:145282262-145282312	AoSMC	blood vessel:	n/a
12	chr2:145230271-145230321	HIPEpiC	eye:	n/a
13	chr2:145277646-145277696	HIPEpiC	eye:	n/a
14	chr2:145273776-145273826	AG10803	skin:	n/a
15	chr2:145273297-145273347	CMK	blood:	n/a
16	chr2:145271307-145271357	AoSMC	blood vessel:	n/a
17	chr2:145274201-145274251	AG09309	skin:	n/a
18	chr2:145230271-145230321	NH-A	brain:	n/a
19	chr2:145280523-145280573	MCF-7	breast:	n/a
20	chr2:145281942-145281992	SAEC	small airway:	n/a
21	chr2:145281739-145281789	AG04450	lung:	fetal
22	chr2:145231644-145231694	NH-A	brain:	n/a
23	chr2:145278113-145278163	HEEpiC	esophagus:	n/a
24	chr2:145277659-145277709	NHDF-neo	bronchial:	n/a
25	chr2:145298195-145298245	AoSMC	blood vessel:	n/a
26	chr2:145278808-145278858	HepG2	liver:	n/a
27	chr2:145202065-145202115	NHBE	bronchial:	n/a
28	chr2:145277659-145277709	GM12878	blood:	n/a
29	chr2:145275363-145275413	RPTEC	kidney:	n/a
30	chr2:145210222-145210272	ProgFib	skin:	n/a
31	chr2:145278564-145278614	AG04449	skin:	fetal
32	chr2:145280784-145280834	GM06990	blood:	n/a
33	chr2:145274874-145274924	H1-hESC	embryonic stem cell:	embryo
34	chr2:145281739-145281789	SKMC	muscle:	n/a
35	chr2:145248570-145248620	HL-60	blood:	n/a
36	chr2:145282262-145282312	AG09309	skin:	n/a
37	chr2:145196972-145197022	CMK	blood:	n/a
38	chr2:145277734-145277784	H1-hESC	embryonic stem cell:	embryo
39	chr2:145277790-145277840	HPAEpiC	pulmonary alveolar:	n/a
40	chr2:145254474-145254524	GM12878	blood:	n/a
41	chr2:145260010-145260060	HCPEpiC	choroid plexus:	n/a
42	chr2:145277843-145277893	BE2_C	brain:	n/a
43	chr2:145210222-145210272	NHDF-neo	bronchial:	n/a
44	chr2:145282054-145282104	HepG2	liver:	n/a
45	chr2:145274874-145274924	NH-A	brain:	n/a
46	chr2:145281942-145281992	SK-N-SH_RA	brain:	n/a
47	chr2:145275199-145275249	Jurkat	blood:	n/a
48	chr2:145281519-145281569	GM12892	blood:	n/a
49	chr2:145274125-145274175	SAEC	small airway:	n/a
50	chr2:145196972-145197022	HUVEC	blood vessel:	n/a

(count:137 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr2:145200171..145201962-chr2:145244962..145247958,2	K562	blood:
2	chr2:145280408..145282014-chr2:145350666..145354133,3	K562	blood:
3	chr2:145233808..145236461-chr2:145237287..145241572,3	K562	blood:
4	chr2:145088534..145090582-chr2:145236502..145239378,2	MCF-7	breast:
5	chr2:145220686..145222354-chr2:145225848..145228220,2	K562	blood:
6	chr2:145231487..145233427-chr2:145241009..145243768,2	K562	blood:
7	chr2:145237572..145239450-chr2:145240587..145242727,2	K562	blood:
8	chr2:145264141..145265822-chr2:145439958..145442290,2	K562	blood:
9	chr2:145232893..145234881-chr2:145235361..145237098,2	K562	blood:
10	chr2:145237572..145239450-chr2:145240587..145242727,2	K562	blood:
11	chr2:145232088..145234387-chr2:145250411..145252365,2	K562	blood:
12	chr2:145190065..145193052-chr2:145193360..145196551,3	K562	blood:
13	chr2:145183043..145184939-chr2:145191977..145193840,2	K562	blood:
14	chr2:145192975..145195951-chr2:145200212..145202235,3	K562	blood:
15	chr2:145274700..145277235-chr2:145291771..145294652,2	K562	blood:
16	chr2:145171987..145174029-chr2:145177149..145179560,2	K562	blood:
17	chr2:145250390..145252682-chr2:145338354..145340585,2	K562	blood:
18	chr2:145274611..145277069-chr2:145306780..145309129,2	K562	blood:
19	chr2:145225231..145227584-chr2:145231808..145234139,2	K562	blood:
20	chr2:145232893..145234881-chr2:145235361..145237098,2	K562	blood:
21	chr2:145208190..145210940-chr2:145216077..145217655,2	MCF-7	breast:
22	chr2:145239241..145241056-chr2:145251134..145254110,2	K562	blood:
23	chr2:145282560..145284808-chr2:145288273..145291283,3	K562	blood:
24	chr2:145186231..145188359-chr2:145273055..145275396,2	K562	blood:
25	chr2:145296199..145298973-chr2:145305309..145307597,2	K562	blood:
26	chr2:145284050..145286026-chr2:145287841..145289379,2	MCF-7	breast:
27	chr2:145303534..145305861-chr2:145311307..145313955,2	K562	blood:
28	chr2:145192975..145195951-chr2:145200212..145202235,3	K562	blood:
29	chr2:145282322..145285312-chr2:145285327..145287295,2	K562	blood:
30	chr2:145196931..145199466-chr2:145218622..145221129,2	K562	blood:
31	chr2:145280312..145282539-chr2:145284544..145287091,2	K562	blood:
32	chr2:145269791..145271356-chr2:145420869..145422777,2	K562	blood:
33	chr2:145208126..145211307-chr2:145281043..145283584,3	K562	blood:
34	chr2:145200171..145201962-chr2:145244962..145247958,2	K562	blood:
35	chr2:145214847..145217475-chr2:145220542..145223853,4	K562	blood:
36	chr2:145153448..145155014-chr2:145176721..145178781,2	K562	blood:
37	chr2:145197694..145199752-chr2:145203612..145206224,2	MCF-7	breast:
38	chr2:145179160..145181399-chr2:145182530..145184937,4	K562	blood:
39	chr2:145284448..145287063-chr2:145337882..145340478,2	K562	blood:
40	chr2:145290149..145292351-chr2:145309355..145311175,2	K562	blood:
41	chr2:145310774..145314762-chr2:145321523..145325884,7	K562	blood:
42	chr2:145245907..145248266-chr2:145339195..145340715,2	K562	blood:
43	chr2:145284050..145286026-chr2:145287841..145289379,2	MCF-7	breast:
44	chr2:145257019..145259314-chr2:145313240..145315938,2	K562	blood:
45	chr2:145280525..145283745-chr2:145306236..145309373,4	K562	blood:
46	chr2:145184735..145186465-chr2:145190004..145192549,2	K562	blood:
47	chr2:145171639..145174314-chr2:145179683..145182397,2	K562	blood:
48	chr2:145186489..145188357-chr2:145188728..145190384,2	K562	blood:
49	chr2:145171987..145175108-chr2:145176731..145179560,4	K562	blood:
50	chr2:145212474..145214965-chr2:145215996..145218326,2	K562	blood:

(count:91 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARHGAP15-3	chr2:145275973-145276142	ENSG00000238057.4
2	lnc-ZEB2-1	chr2:145274845-145274986	NONHSAT074767
3	lnc-ARHGAP15-3	chr2:145278013-145278683	NONHSAT074775
4	lnc-ARHGAP15-3	chr2:145278321-145278389	ENSG00000238057.4
5	lnc-ARHGAP15-3	chr2:145277782-145278683	ENSG00000238057.2
6	lnc-ARHGAP15-3	chr2:145277526-145277677	ENSG00000238057.4
7	lnc-ZEB2-1	chr2:145277506-145277775	NONHSAT074770
8	lnc-ZEB2-1	chr2:145281954-145282147	NONHSAT074770
9	lnc-ARHGAP15-3	chr2:145275982-145276142	ENSG00000238057.2
10	lnc-ARHGAP15-3	chr2:145277782-145278011	NONHSAT074779
11	lnc-ARHGAP15-3	chr2:145277526-145277677	ENSG00000238057.4
12	lnc-ZEB2-1	chr2:145219750-145219904	NONHSAT074763
13	lnc-ARHGAP15-3	chr2:145276024-145276142	ENSG00000238057.4
14	lnc-ARHGAP15-3	chr2:145277218-145277241	NONHSAT074778
15	lnc-ARHGAP15-3	chr2:145277782-145277948	ENSG00000238057.4
16	lnc-ZEB2-1	chr2:145274845-145274986	NONHSAT074766
17	lnc-ARHGAP15-3	chr2:145277274-145277677	NONHSAT074779
18	lnc-ARHGAP15-14	chr2:145208453-145208545	NONHSAT074761
19	lnc-ZEB2-1	chr2:145281135-145281395	XLOC_002344
20	lnc-ZEB2-1	chr2:145274845-145274986	NONHSAT074768
21	lnc-ARHGAP15-3	chr2:145276916-145277042	ENSG00000238057.4
22	lnc-ARHGAP15-17	chr2:145242135-145242317	ucscGeneNc_uc002twc_2
23	lnc-ZEB2-1	chr2:145281954-145282074	NONHSAT074784
24	lnc-ARHGAP15-3	chr2:145275664-145276142	ENSG00000238057.4
25	lnc-ZEB2-1	chr2:145275179-145275216	NONHSAT074769
26	lnc-ARHGAP15-3	chr2:145277782-145277852	ENSG00000238057.4
27	lnc-ZEB2-1	chr2:145274845-145274986	NONHSAT074769
28	lnc-ARHGAP15-3	chr2:145275770-145276142	ENSG00000238057.4
29	lnc-ARHGAP15-3	chr2:145277526-145277677	ENSG00000238057.2
30	lnc-ZEB2-1	chr2:145281954-145281983	XLOC_002344
31	lnc-ZEB2-1	chr2:145275226-145275322	NONHSAT074768
32	lnc-ARHGAP15-3	chr2:145277782-145278136	NONHSAT074778
33	lnc-ARHGAP15-3	chr2:145277782-145277852	ENSG00000238057.2
34	lnc-ZEB2-1	chr2:145278123-145278216	NONHSAT074771
35	lnc-ARHGAP15-3	chr2:145277782-145277984	NONHSAT074775
36	lnc-ZEB2-1	chr2:145268952-145271364	NONHSAT074767
37	lnc-ARHGAP15-3	chr2:145277782-145279058	ENSG00000238057.4
38	lnc-ARHGAP15-3	chr2:145277526-145277677	ENSG00000238057.4
39	lnc-ARHGAP15-3	chr2:145277078-145277652	ENSG00000238057.4
40	lnc-ARHGAP15-3	chr2:145277782-145277852	NR_040248
41	lnc-ZEB2-1	chr2:145268956-145271364	NONHSAT074768
42	lnc-ARHGAP15-15	chr2:145223112-145223294	NONHSAT074764
43	lnc-ARHGAP15-3	chr2:145277526-145277677	NONHSAT074775
44	lnc-ARHGAP15-3	chr2:145277782-145277940	ENSG00000238057.4
45	lnc-ARHGAP15-3	chr2:145278321-145278465	NR_040248
46	lnc-ZEB2-1	chr2:145275254-145275572	NONHSAT074766
47	lnc-ARHGAP15-3	chr2:145278321-145278466	ENSG00000238057.2
48	lnc-ZEB2-1	chr2:145277506-145277775	NONHSAT074771
49	lnc-GTDC1-12	chr2:145251832-145254445	NONHSAT074765
50	lnc-ARHGAP15-15	chr2:145222856-145223015	NONHSAT074764

No data

(count:8 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	ZEB2	hsa-miR-181a-5p	chr2:145186827-145186848
2	ZEB2	hsa-miR-200a-3p	chr2:145270071-145270094
3	ZEB2	hsa-miR-181a-5p	chr2:145270887-145270909
4	ZEB2	hsa-miR-181a-5p	chr2:145185745-145185767
5	ZEB2	hsa-miR-141-3p	chr2:145270071-145270097
6	ZEB2	hsa-miR-221-3p	chr2:145186898-145186921
7	ZEB2	hsa-miR-320a	chr2:145184961-145184982
8	ZEB2	hsa-miR-221-3p	chr2:145186932-145186954

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
ENSG00000232606	chromatin interactions
ENSG00000169554	chromatin interactions
ENSG00000141429	chromatin interactions
ENSG00000121964	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: 4229 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:4229 , 50 per page) page: 1 2 3 4 5 6 7 ... 85

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568308279	chr2:145178315-145178316	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1834844	chr2:145178357-145178358	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs536780377	chr2:145178469-145178470	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149559750	chr2:145178479-145178480	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144414730	chr2:145178568-145178569	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557819610	chr2:145178615-145178616	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576392332	chr2:145178634-145178635	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148797493	chr2:145178673-145178674	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555943161	chr2:145178706-145178707	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201949355	chr2:145178739-145178740	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542077105	chr2:145178786-145178787	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560402870	chr2:145178791-145178792	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141552439	chr2:145178820-145178821	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146368555	chr2:145178837-145178838	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139666789	chr2:145178887-145178888	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs531380605	chr2:145178985-145178986	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs549465100	chr2:145178986-145178987	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs76347827	chr2:145179011-145179012	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540637098	chr2:145179178-145179179	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574764438	chr2:145179211-145179212	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs34583976	chr2:145179223-145179224	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs397753514	chr2:145179238-145179239	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs547551847	chr2:145179241-145179242	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs566285662	chr2:145179309-145179310	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs539702944	chr2:145179336-145179337	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs193080487	chr2:145179364-145179365	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs35587750	chr2:145179403-145179404	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs56692545	chr2:145179430-145179431	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs184842613	chr2:145179451-145179452	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs555879543	chr2:145179474-145179475	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574146081	chr2:145179503-145179504	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535142343	chr2:145179524-145179525	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553960798	chr2:145179534-145179535	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs16823683	chr2:145179581-145179582	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs545772071	chr2:145179655-145179656	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs16823684	chr2:145179722-145179723	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs575929512	chr2:145179777-145179778	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543048499	chr2:145179946-145179947	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561363449	chr2:145179958-145179959	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528929700	chr2:145179992-145179993	Enhancers Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs540735856	chr2:145180009-145180010	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189307520	chr2:145180017-145180018	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs146691237	chr2:145180041-145180042	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551765058	chr2:145180097-145180098	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573676069	chr2:145180117-145180118	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs542141286	chr2:145180125-145180126	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531245546	chr2:145180132-145180133	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549368662	chr2:145180133-145180134	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs139062254	chr2:145180164-145180165	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535082278	chr2:145180191-145180192	Weak transcription Strong transcription Genic enhancers Enhancers	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:6106 , 50 per page) page: 1 2 3 4 5 6 7 ... 123

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145140800-145189800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr2:145157200-145184200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:145157600-145192000	Weak transcription	Spleen	Spleen
4	chr2:145157800-145206200	Weak transcription	Lung	lung
5	chr2:145158200-145187200	Weak transcription	Aorta	Aorta
6	chr2:145158400-145184400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr2:145159000-145193800	Weak transcription	Dnd41	blood
8	chr2:145160000-145184000	Weak transcription	HUVEC	blood vessel
9	chr2:145160200-145182400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr2:145161600-145183800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr2:145161800-145187200	Weak transcription	Left Ventricle	heart
12	chr2:145161800-145188400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:145162600-145184200	Weak transcription	NH-A	brain
14	chr2:145162600-145188000	Weak transcription	Right Atrium	heart
15	chr2:145162600-145206600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:145164400-145184000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:145164400-145184800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr2:145167000-145182000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:145167000-145182400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr2:145170400-145182200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr2:145170400-145182400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr2:145170600-145179600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:145171800-145180400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr2:145172000-145182200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr2:145172000-145185000	Weak transcription	Small Intestine	intestine
26	chr2:145172200-145178400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr2:145172200-145178400	Weak transcription	Fetal Brain Female	brain
28	chr2:145172200-145179600	Weak transcription	Brain Anterior Caudate	brain
29	chr2:145172200-145181600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr2:145172200-145184800	Weak transcription	Right Ventricle	heart
31	chr2:145172200-145187200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr2:145172200-145187200	Weak transcription	Psoas Muscle	Psoas
33	chr2:145172200-145187400	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr2:145172400-145182600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:145172800-145178800	Strong transcription	Primary B cells from peripheral blood	blood
36	chr2:145173000-145182200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:145173200-145180600	Weak transcription	Brain Cingulate Gyrus	brain
38	chr2:145173200-145182800	Strong transcription	Fetal Lung	lung
39	chr2:145173200-145183600	Strong transcription	HSMM	muscle
40	chr2:145173600-145178800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr2:145173600-145182600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:145173800-145179600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:145174400-145179000	Strong transcription	NHLF	lung
44	chr2:145174400-145179200	Strong transcription	Brain Germinal Matrix	brain
45	chr2:145174400-145179800	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr2:145174400-145187200	Strong transcription	K562	blood
47	chr2:145175000-145180200	Strong transcription	Fetal Muscle Leg	muscle
48	chr2:145175200-145181600	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr2:145175200-145184200	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr2:145175400-145184000	Weak transcription	Fetal Kidney	kidney

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