Variant report

Variant	nsv532757
Chromosome Location	chr2:144922143-145263446
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4463)
CpG islands
(count:3545)
Chromatin interactive
region (count:329)
LncRNA
region (count:23)
Mature miRNA
region (count: 0)
miRNA target
sites (count:65)

(count:4463 , 50 per page) page: 1 2 3 4 5 6 7 ... 90

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:145128837-145129157	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:145210157-145210637	K562	blood:	n/a	n/a
3	ARID3A	chr2:145090274-145090350	K562	blood:	n/a	n/a
4	ARID3A	chr2:145108213-145108394	K562	blood:	n/a	n/a
5	ARID3A	chr2:145247814-145247823	K562	blood:	n/a	n/a
6	ARID3A	chr2:145091153-145091253	K562	blood:	n/a	n/a
7	ARID3A	chr2:145173128-145173323	HepG2	liver:	n/a	n/a
8	ARID3A	chr2:145198832-145199989	K562	blood:	n/a	n/a
9	ARID3A	chr2:145089553-145089803	HepG2	liver:	n/a	n/a
10	ARID3A	chr2:145218960-145219142	K562	blood:	n/a	n/a
11	ARID3A	chr2:144982025-144982420	K562	blood:	n/a	n/a
12	ARID3A	chr2:145217839-145217938	K562	blood:	n/a	n/a
13	ARID3A	chr2:145128377-145129210	K562	blood:	n/a	n/a
14	ARID3A	chr2:144975308-144975631	K562	blood:	n/a	n/a
15	ARID3A	chr2:144955704-144956090	HepG2	liver:	n/a	n/a
16	ARID3A	chr2:145135651-145135939	K562	blood:	n/a	n/a
17	ARID3A	chr2:145089596-145089782	K562	blood:	n/a	n/a
18	ARID3A	chr2:145142385-145142475	K562	blood:	n/a	n/a
19	ARID3A	chr2:145107992-145108004	K562	blood:	n/a	n/a
20	ARID3A	chr2:145222289-145222487	K562	blood:	n/a	n/a
21	ARID3A	chr2:145216172-145216307	K562	blood:	n/a	n/a
22	ARID3A	chr2:145263029-145263629	K562	blood:	n/a	n/a
23	ARID3A	chr2:145237553-145237708	K562	blood:	n/a	n/a
24	ARID3A	chr2:145115583-145115882	K562	blood:	n/a	n/a
25	ARID3A	chr2:144987140-144989739	K562	blood:	n/a	n/a
26	ARID3A	chr2:145130231-145130356	K562	blood:	n/a	n/a
27	ARID3A	chr2:145214141-145214521	K562	blood:	n/a	n/a
28	ARID3A	chr2:145212428-145212963	K562	blood:	n/a	n/a
29	ARID3A	chr2:144992159-144992339	K562	blood:	n/a	n/a
30	ARID3A	chr2:145012387-145012757	HepG2	liver:	n/a	n/a
31	ARID3A	chr2:145200977-145201674	K562	blood:	n/a	n/a
32	ARID3A	chr2:145170376-145170653	HepG2	liver:	n/a	n/a
33	ATF1	chr2:144982708-144982928	K562	blood:	n/a	n/a
34	ATF1	chr2:145263151-145263495	K562	blood:	n/a	n/a
35	ATF1	chr2:145128510-145129152	K562	blood:	n/a	n/a
36	ATF1	chr2:145135565-145135897	K562	blood:	n/a	n/a
37	ATF1	chr2:145217578-145217845	K562	blood:	n/a	n/a
38	ATF1	chr2:145209965-145210907	K562	blood:	n/a	n/a
39	ATF1	chr2:145131924-145132247	K562	blood:	n/a	n/a
40	ATF1	chr2:144955717-144956108	K562	blood:	n/a	n/a
41	ATF1	chr2:144988079-144988682	K562	blood:	n/a	n/a
42	ATF1	chr2:145115555-145115877	K562	blood:	n/a	n/a
43	ATF1	chr2:145164915-145165163	K562	blood:	n/a	n/a
44	ATF1	chr2:145198731-145199760	K562	blood:	n/a	n/a
45	ATF1	chr2:145201535-145201781	K562	blood:	n/a	n/a
46	ATF1	chr2:144983370-144983453	K562	blood:	n/a	n/a
47	ATF2	chr2:145188134-145188770	GM12878	blood:	n/a	n/a
48	ATF2	chr2:145006441-145006983	GM12878	blood:	n/a	n/a
49	ATF2	chr2:145228850-145229383	GM12878	blood:	n/a	n/a
50	ATF2	chr2:145131655-145132272	GM12878	blood:	n/a	n/a

(count:3545 , 50 per page) page: 1 2 3 4 5 6 7 ... 71

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:144996219-144996269	A549	lung:	n/a
2	chr2:144996219-144996269	AG10803	skin:	n/a
3	chr2:144995067-144995117	GM06990	blood:	n/a
4	chr2:145090273-145090323	AG10803	skin:	n/a
5	chr2:145247292-145247342	LNCaP	prostate:	n/a
6	chr2:145137193-145137243	HRE	kidney:	n/a
7	chr2:145230271-145230321	Hepatocyte	liver:	n/a
8	chr2:144996219-144996269	A549	lung:	n/a
9	chr2:144996219-144996269	AG10803	skin:	n/a
10	chr2:144995067-144995117	GM06990	blood:	n/a
11	chr2:145090273-145090323	AG10803	skin:	n/a
12	chr2:145247292-145247342	LNCaP	prostate:	n/a
13	chr2:145137193-145137243	HRE	kidney:	n/a
14	chr2:145230271-145230321	Hepatocyte	liver:	n/a
15	chr2:145037160-145037210	SK-N-SH_RA	brain:	n/a
16	chr2:145052739-145052789	GM12892	blood:	n/a
17	chr2:145090579-145090629	MCF10A-Er-Src	breast:	n/a
18	chr2:145226929-145226979	Caco-2	colon:	n/a
19	chr2:145147129-145147179	SK-N-SH	brain:	n/a
20	chr2:145184893-145184943	T-47D	breast:	n/a
21	chr2:144995448-144995498	K562	blood:	n/a
22	chr2:145052739-145052789	HCM	heart:	n/a
23	chr2:145162489-145162539	RPTEC	kidney:	n/a
24	chr2:145052759-145052809	HEK293	kidney:	embryo
25	chr2:145147291-145147341	AG10803	skin:	n/a
26	chr2:144987743-144987793	NHDF-neo	bronchial:	n/a
27	chr2:145146928-145146978	PrEC	prostate:	n/a
28	chr2:145184893-145184943	GM12878	blood:	n/a
29	chr2:145260010-145260060	GM19239	blood:	n/a
30	chr2:145052759-145052809	K562	blood:	n/a
31	chr2:145147129-145147179	NHDF-neo	bronchial:	n/a
32	chr2:145147450-145147500	AG04449	skin:	fetal
33	chr2:145089952-145090002	AG04449	skin:	fetal
34	chr2:144996219-144996269	HAEpiC	amniotic membrane:	n/a
35	chr2:145116633-145116683	AG09309	skin:	n/a
36	chr2:145129279-145129329	HNPCEpiC	eye:	n/a
37	chr2:145149645-145149695	SK-N-MC	brain:	n/a
38	chr2:145106459-145106509	HPAEpiC	pulmonary alveolar:	n/a
39	chr2:145231644-145231694	AoSMC	blood vessel:	n/a
40	chr2:145092423-145092473	IMR90	lung:	fetal
41	chr2:145196972-145197022	HCF	heart:	n/a
42	chr2:145147350-145147400	SAEC	small airway:	n/a
43	chr2:145254474-145254524	HepG2	liver:	n/a
44	chr2:145196972-145197022	NHDF-neo	bronchial:	n/a
45	chr2:145247292-145247342	HCM	heart:	n/a
46	chr2:145147350-145147400	HEK293	kidney:	embryo
47	chr2:145090856-145090906	CMK	blood:	n/a
48	chr2:145143754-145143804	HEEpiC	esophagus:	n/a
49	chr2:145052739-145052789	HCPEpiC	choroid plexus:	n/a
50	chr2:145231644-145231694	H1-hESC	embryonic stem cell:	embryo

(count:329 , 50 per page) page: 1 2 3 4 5 6 7

No.	Distal block	Cell Line	Cell type
1	chr2:145130971..145134201-chr2:145136007..145138122,4	K562	blood:
2	chr2:145257019..145259314-chr2:145313240..145315938,2	K562	blood:
3	chr2:145115743..145118583-chr2:145158597..145161342,2	K562	blood:
4	chr2:144934903..144937420-chr2:144937432..144939310,2	K562	blood:
5	chr2:145170128..145171737-chr2:145173776..145175854,2	K562	blood:
6	chr2:145115989..145118436-chr2:145136687..145138889,2	K562	blood:
7	chr2:145045908..145048354-chr2:145051759..145054020,2	MCF-7	breast:
8	chr2:145020491..145022212-chr2:145028538..145030315,2	K562	blood:
9	chr2:145061040..145062540-chr2:145073838..145076401,2	K562	blood:
10	chr2:145202502..145204314-chr2:145213044..145215998,2	K562	blood:
11	chr2:144952090..144954781-chr2:145087114..145090082,2	K562	blood:
12	chr2:144985213..144988142-chr2:145276159..145278049,2	K562	blood:
13	chr2:144951160..144953736-chr2:144953951..144956370,2	MCF-7	breast:
14	chr2:144987987..144989670-chr2:145025487..145028225,2	K562	blood:
15	chr2:145186489..145188357-chr2:145188728..145190384,2	K562	blood:
16	chr2:145050777..145053191-chr2:145148007..145150328,2	K562	blood:
17	chr2:144972642..144975072-chr2:144981023..144982545,2	K562	blood:
18	chr2:145138472..145140469-chr2:145141608..145143836,3	K562	blood:
19	chr2:144765441..144767144-chr2:145116604..145118949,2	K562	blood:
20	chr2:145162810..145165802-chr2:145170108..145173094,2	K562	blood:
21	chr2:145111347..145113912-chr2:145115328..145118079,3	K562	blood:
22	chr2:144958460..144960546-chr2:144965383..144967191,2	K562	blood:
23	chr2:145072968..145075900-chr2:145087325..145092803,5	K562	blood:
24	chr2:145001769..145004480-chr2:145087992..145089753,2	K562	blood:
25	chr2:145068763..145071658-chr2:145087290..145089082,2	MCF-7	breast:
26	chr2:145171987..145174029-chr2:145177149..145179560,2	K562	blood:
27	chr2:145072665..145074480-chr2:145078209..145080332,2	K562	blood:
28	chr2:145038354..145040958-chr2:145042479..145045337,2	K562	blood:
29	chr2:145101949..145103521-chr2:145105265..145107587,2	K562	blood:
30	chr2:145111347..145113912-chr2:145115328..145118079,3	K562	blood:
31	chr2:145210187..145211904-chr2:145273764..145276709,3	K562	blood:
32	chr2:144987987..144989670-chr2:145025487..145028225,2	K562	blood:
33	chr2:144997038..144999307-chr2:145001459..145003557,2	K562	blood:
34	chr2:145181383..145184291-chr2:145187188..145189063,2	K562	blood:
35	chr2:144977899..144980738-chr2:144981469..144983728,3	K562	blood:
36	chr2:145196931..145199466-chr2:145218622..145221129,2	K562	blood:
37	chr2:145244895..145246752-chr2:145253097..145254747,2	K562	blood:
38	chr2:145212474..145214965-chr2:145215996..145218326,2	K562	blood:
39	chr2:145007433..145010118-chr2:145010715..145012267,2	K562	blood:
40	chr19:58867887..58870635-chr2:144973619..144975744,2	K562	blood:
41	chr2:145208190..145210940-chr2:145216077..145217655,2	MCF-7	breast:
42	chr2:145130971..145132666-chr2:145136007..145137596,2	K562	blood:
43	chr2:145250390..145252682-chr2:145338354..145340585,2	K562	blood:
44	chr2:145192975..145195951-chr2:145200212..145202235,3	K562	blood:
45	chr2:145088714..145091175-chr2:145108311..145111110,2	MCF-7	breast:
46	chr2:145199757..145203422-chr2:145204800..145206828,4	K562	blood:
47	chr2:145061040..145062540-chr2:145073838..145076401,2	K562	blood:
48	chr2:145095094..145097768-chr2:145100010..145102320,2	K562	blood:
49	chr2:144959046..144961054-chr2:144965383..144967301,2	K562	blood:
50	chr2:145096521..145098138-chr2:145100118..145102499,2	K562	blood:

(count:23 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZEB2-8	chr2:144993243-144993304	NONHSAT074756
2	lnc-ZEB2-9	chr2:144965559-144965921	expReg_chr2_10439_-
3	lnc-ZEB2-8	chr2:144969082-144969146	NONHSAT074756
4	lnc-ARHGAP15-17	chr2:145142022-145142145	ucscGeneNc_uc002twc_2
5	lnc-ZEB2-1	chr2:145219750-145219904	NONHSAT074763
6	lnc-ZEB2-6	chr2:144997572-144997865	l_1961_chr2:144997571-144998619_colon
7	lnc-GTDC1-10	chr2:145164087-145164222	NONHSAT074758
8	lnc-GTDC1-10	chr2:145162450-145163112	NONHSAT074758
9	lnc-ARHGAP15-14	chr2:145208453-145208545	NONHSAT074761
10	lnc-ZEB2-8	chr2:145075046-145075155	NONHSAT074756
11	lnc-ZEB2-1	chr2:145221733-145221909	NONHSAT074763
12	lnc-ZEB2-8	chr2:145077286-145077437	NONHSAT074756
13	lnc-ZEB2-7	chr2:144979690-144979902	expReg_chr2_10528_-
14	lnc-ZEB2-6	chr2:144998538-144998619	l_1961_chr2:144997571-144998619_colon
15	lnc-ARHGAP15-17	chr2:145242135-145242317	ucscGeneNc_uc002twc_2
16	lnc-ARHGAP15-14	chr2:145208235-145208447	NONHSAT074761
17	lnc-GTDC1-12	chr2:145251832-145254445	NONHSAT074765
18	lnc-ARHGAP15-15	chr2:145222856-145223015	NONHSAT074764
19	lnc-ZEB2-8	chr2:144968402-144968804	NONHSAT074756
20	lnc-ZEB2-1	chr2:145218679-145221645	NONHSAT074762
21	lnc-ARHGAP15-15	chr2:145223112-145223294	NONHSAT074764
22	lnc-ZEB2-1	chr2:145262008-145262200	NONHSAT074766
23	lnc-GTDC1-9	chr2:145143042-145143557	NONHSAT074757

No data

(count:65 , 50 per page) page: 1 2

No.	miRNA target gene	miRNA name	Chromosome Location
1	ZEB2	hsa-miR-200c-3p	chr2:145146119-145146112
2	ZEB2	hsa-miR-200a-3p	chr2:145146803-145146824
3	ZEB2	hsa-miR-141-3p	chr2:145146809-145146802
4	ZEB2	hsa-miR-200c-3p	chr2:145145982-145146005
5	ZEB2	hsa-miR-200a-3p	chr2:145146809-145146802
6	ZEB2	hsa-miR-200c-3p	chr2:145146619-145146641
7	ZEB2	hsa-miR-200b-3p	chr2:145146198-145146220
8	ZEB2	hsa-miR-181a-5p	chr2:145144986-145144979
9	ZEB2	hsa-miR-141-3p	chr2:145146277-145146295
10	ZEB2	hsa-miR-200a-3p	chr2:145146242-145146235
11	ZEB2	hsa-miR-141-3p	chr2:145145982-145146004
12	ZEB2	hsa-miR-200a-3p	chr2:145146236-145146261
13	ZEB2	hsa-miR-200b-3p	chr2:145145982-145146003
14	ZEB2	hsa-miR-221-3p	chr2:145145590-145145611
15	ZEB2	hsa-miR-429	chr2:145146625-145146619
16	ZEB2	hsa-miR-200b-3p	chr2:145146625-145146619
17	ZEB2	hsa-miR-200b-3p	chr2:145145988-145145981
18	ZEB2	hsa-miR-429	chr2:145145649-145145669
19	ZEB2	hsa-miR-153-3p	chr2:145146821-145146843
20	ZEB2	hsa-miR-200a-3p	chr2:145146277-145146295
21	ZEB2	hsa-miR-429	chr2:145146198-145146220
22	ZEB2	hsa-miR-200c-3p	chr2:145146198-145146222
23	ZEB2	hsa-miR-429	chr2:145145982-145146003
24	ZEB2	hsa-miR-429	chr2:145145988-145145981
25	ZEB2	hsa-miR-181a-5p	chr2:145185745-145185767
26	ZEB2	hsa-miR-153-3p	chr2:145146323-145146344
27	ZEB2	hsa-miR-200c-3p	chr2:145145649-145145671
28	ZEB2	hsa-miR-205-5p	chr2:145146448-145146469
29	ZEB2	hsa-miR-181a-5p	chr2:145186827-145186848
30	ZEB2	hsa-miR-200b-3p	chr2:145146119-145146112
31	ZEB2	hsa-miR-200c-3p	chr2:145146562-145146555
32	ZEB2	hsa-miR-138-5p	chr2:145146251-145146245
33	ZEB2	hsa-miR-221-3p	chr2:145186898-145186921
34	ZEB2	hsa-miR-200b-3p	chr2:145145654-145145648
35	ZEB2	hsa-miR-138-5p	chr2:145146245-145146270
36	ZEB2	hsa-miR-200c-3p	chr2:145145654-145145648
37	ZEB2	hsa-miR-429	chr2:145146204-145146197
38	ZEB2	hsa-miR-200b-3p	chr2:145146619-145146643
39	ZEB2	hsa-miR-200c-3p	chr2:145146556-145146578
40	ZEB2	hsa-miR-205-5p	chr2:145146384-145146406
41	ZEB2	hsa-miR-429	chr2:145146119-145146112
42	ZEB2	hsa-miR-153-3p	chr2:145146328-145146322
43	ZEB2	hsa-miR-200b-3p	chr2:145146113-145146136
44	ZEB2	hsa-miR-141-3p	chr2:145146242-145146235
45	ZEB2	hsa-miR-429	chr2:145146113-145146138
46	ZEB2	hsa-miR-221-3p	chr2:145146033-145146055
47	ZEB2	hsa-miR-200c-3p	chr2:145145988-145145981
48	ZEB2	hsa-miR-221-3p	chr2:145186932-145186954
49	ZEB2	hsa-miR-200b-3p	chr2:145146556-145146580
50	ZEB2	hsa-miR-429	chr2:145146556-145146577

Variant related genes	Relation type
ENSG00000213410	TF binding region
ENSG00000176824	TF binding region
ZEB2	TF binding region
GTDC1	TF binding region
ENSG00000213410	CpG island
ENSG00000176824	CpG island
ZEB2	CpG island
GTDC1	CpG island
ENSG00000213410	chromatin interactions
ENSG00000176824	chromatin interactions
ENSG00000121964	chromatin interactions
ENSG00000238057	chromatin interactions
ENSG00000268049	chromatin interactions
ENSG00000169554	chromatin interactions

Extended variants
information (count: 11032 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:11032 , 50 per page) page: 1 2 3 4 5 6 7 ... 221

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528807935	chr2:144922157-144922158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540247449	chr2:144922248-144922249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565295146	chr2:144922252-144922253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532468854	chr2:144922308-144922309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551052895	chr2:144922315-144922316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150854988	chr2:144922341-144922342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373699070	chr2:144922443-144922444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530612577	chr2:144922508-144922509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs548814791	chr2:144922510-144922511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567203664	chr2:144922627-144922628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192991474	chr2:144922635-144922636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139297781	chr2:144922640-144922641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184583602	chr2:144922650-144922651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570562827	chr2:144922681-144922682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538308905	chr2:144922688-144922689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs149569748	chr2:144922694-144922695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557083429	chr2:144922711-144922712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190251296	chr2:144922717-144922718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536818785	chr2:144922737-144922738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144232730	chr2:144922775-144922776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192835380	chr2:144922875-144922876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10188875	chr2:144922955-144922956	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs202211998	chr2:144922956-144922957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200149572	chr2:144922958-144922959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574023122	chr2:144922962-144922963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201478163	chr2:144922963-144922964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs199707718	chr2:144922965-144922966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565084240	chr2:144923011-144923012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577174590	chr2:144923033-144923034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544243439	chr2:144923081-144923082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562641736	chr2:144923084-144923085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs140202777	chr2:144923144-144923145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369796570	chr2:144923264-144923265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73008238	chr2:144923278-144923279	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs1427314	chr2:144923331-144923332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs373035840	chr2:144923333-144923334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534767873	chr2:144923334-144923335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548752879	chr2:144923354-144923355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377742342	chr2:144923380-144923381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189580950	chr2:144923383-144923384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528754183	chr2:144923409-144923410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143912312	chr2:144923439-144923440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13411437	chr2:144923456-144923457	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs113968844	chr2:144923613-144923614	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs60088410	chr2:144923614-144923615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200561969	chr2:144923618-144923619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs397976484	chr2:144923619-144923620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538624982	chr2:144923621-144923622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535112171	chr2:144923660-144923661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs568956905	chr2:144923670-144923671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Non-syndromic sensorineural hearing loss	20456320	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:8397 , 50 per page) page: 1 2 3 4 5 6 7 ... 168

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:144901800-144922200	Weak transcription	Fetal Kidney	kidney
2	chr2:144902000-144931200	Weak transcription	Primary B cells from cord blood	blood
3	chr2:144910800-144923600	Weak transcription	NHDF-Ad	bronchial
4	chr2:144913600-144935600	Weak transcription	Fetal Lung	lung
5	chr2:144915200-144931600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:144918800-144923000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:144923000-144923600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:144923000-144923800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:144923600-144923800	Enhancers	NHDF-Ad	bronchial
10	chr2:144923600-144941200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr2:144923800-144924200	Weak transcription	NHDF-Ad	bronchial
12	chr2:144923800-144924800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:144923800-144955600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:144924200-144925200	Enhancers	NHDF-Ad	bronchial
15	chr2:144924400-144925000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr2:144924400-144939200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr2:144924800-144927800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:144927000-144932800	Weak transcription	Spleen	Spleen
19	chr2:144927600-144933400	Weak transcription	Fetal Intestine Large	intestine
20	chr2:144927800-144928000	Enhancers	Brain Inferior Temporal Lobe	brain
21	chr2:144927800-144928000	Enhancers	Lung	lung
22	chr2:144927800-144928200	Enhancers	Ovary	ovary
23	chr2:144927800-144928400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:144928000-144928200	Enhancers	Left Ventricle	heart
25	chr2:144928000-144941400	Weak transcription	Lung	lung
26	chr2:144928000-144943400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr2:144928200-144931000	Weak transcription	Ovary	ovary
28	chr2:144928200-144965400	Weak transcription	Left Ventricle	heart
29	chr2:144928400-144938000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:144929200-144930800	Weak transcription	Adipose Nuclei	Adipose
31	chr2:144929400-144930800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:144929400-144931000	Weak transcription	Primary T cells from cord blood	blood
33	chr2:144929600-144941200	Weak transcription	Fetal Brain Female	brain
34	chr2:144930000-144931000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr2:144930000-144932400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr2:144930600-144931000	Weak transcription	Fetal Muscle Trunk	muscle
37	chr2:144930600-144931000	Weak transcription	HSMMtube	muscle
38	chr2:144930800-144931200	Weak transcription	Liver	Liver
39	chr2:144930800-144932000	Strong transcription	Adipose Nuclei	Adipose
40	chr2:144930800-144932400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:144931000-144931200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:144931000-144931200	ZNF genes & repeats	Fetal Muscle Trunk	muscle
43	chr2:144931000-144931200	ZNF genes & repeats	HSMMtube	muscle
44	chr2:144931000-144931400	ZNF genes & repeats	Ovary	ovary
45	chr2:144931000-144931600	Strong transcription	Primary T cells from cord blood	blood
46	chr2:144931000-144931600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
47	chr2:144931000-144931600	ZNF genes & repeats	Brain Angular Gyrus	brain
48	chr2:144931000-144932000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr2:144931000-144932200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
50	chr2:144931000-144932200	ZNF genes & repeats	Fetal Muscle Leg	muscle

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