Variant report

Variant	nsv915824
Chromosome Location	chr2:50978466-51528474
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:51330523-51330544	HepG2	liver:	n/a	n/a
2	ATF2	chr2:51524637-51524938	GM12878	blood:	n/a	n/a
3	ATF2	chr2:51259057-51259636	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr2:51259020-51259511	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr2:51246247-51246255	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr2:51155966-51156146	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr2:51083034-51083154	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr2:51330505-51330576	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr2:51240144-51240458	H1-hESC	embryonic stem cell:	n/a	n/a
10	BATF	chr2:51439527-51439799	GM12878	blood:	n/a	chr2:51439631-51439642
11	BHLHE40	chr2:51330297-51330702	HepG2	liver:	n/a	n/a
12	BHLHE40	chr2:51439638-51439779	GM12878	blood:	n/a	n/a
13	BHLHE40	chr2:51524627-51524983	GM12878	blood:	n/a	n/a
14	BRCA1	chr2:51214813-51214934	Hela-S3	cervix:	n/a	n/a
15	BRCA1	chr2:51179768-51180665	Hela-S3	cervix:	n/a	n/a
16	BRCA1	chr2:51330435-51330474	H1-hESC	embryonic stem cell:	n/a	n/a
17	BRCA1	chr2:51185262-51185455	H1-hESC	embryonic stem cell:	n/a	n/a
18	BRCA1	chr2:51259605-51259656	H1-hESC	embryonic stem cell:	n/a	n/a
19	CBX3	chr2:51240017-51240569	HCT-116	colon:	n/a	n/a
20	CCNT2	chr2:51398751-51398851	K562	blood:	n/a	n/a
21	CEBPB	chr2:51080873-51081218	IMR90	lung:	n/a	chr2:51081037-51081050 chr2:51081039-51081048
22	CEBPB	chr2:51042035-51042364	HepG2	liver:	n/a	chr2:51042175-51042186
23	CEBPB	chr2:51255984-51256364	HepG2	liver:	n/a	chr2:51256172-51256183
24	CEBPB	chr2:51485458-51485831	H1-hESC	embryonic stem cell:	n/a	chr2:51485628-51485645 chr2:51485631-51485642
25	CEBPB	chr2:51445259-51445582	HepG2	liver:	n/a	chr2:51445408-51445419 chr2:51445407-51445420
26	CEBPB	chr2:51184010-51184263	HepG2	liver:	n/a	chr2:51184131-51184142
27	CEBPB	chr2:51485458-51485815	A549	lung:	n/a	chr2:51485628-51485645 chr2:51485631-51485642
28	CEBPB	chr2:51325500-51325735	H1-hESC	embryonic stem cell:	n/a	chr2:51325594-51325607
29	CEBPB	chr2:51255980-51256366	H1-hESC	embryonic stem cell:	n/a	chr2:51256172-51256183
30	CEBPB	chr2:51272267-51272564	A549	lung:	n/a	chr2:51272397-51272408 chr2:51272396-51272409
31	CEBPB	chr2:51485456-51485813	K562	blood:	n/a	chr2:51485628-51485645 chr2:51485631-51485642
32	CEBPB	chr2:51314497-51314768	A549	lung:	n/a	chr2:51314679-51314692 chr2:51314681-51314692 chr2:51314679-51314692 chr2:51314681-51314692
33	CEBPB	chr2:51179763-51180618	IMR90	lung:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
34	CEBPB	chr2:51496429-51496495	H1-hESC	embryonic stem cell:	n/a	n/a
35	CEBPB	chr2:51042082-51042350	A549	lung:	n/a	chr2:51042175-51042186
36	CEBPB	chr2:51485456-51485816	HepG2	liver:	n/a	chr2:51485628-51485645 chr2:51485631-51485642
37	CEBPB	chr2:51496291-51496595	IMR90	lung:	n/a	n/a
38	CEBPB	chr2:51256004-51256330	K562	blood:	n/a	chr2:51256172-51256183
39	CEBPB	chr2:51184080-51184410	A549	lung:	n/a	chr2:51184131-51184142
40	CEBPB	chr2:51485451-51485812	A549	lung:	n/a	chr2:51485628-51485645 chr2:51485631-51485642
41	CEBPB	chr2:51077732-51078049	Hela-S3	cervix:	n/a	chr2:51077903-51077914 chr2:51077818-51077830 chr2:51077904-51077913
42	CEBPB	chr2:51485499-51485822	A549	lung:	n/a	chr2:51485628-51485645 chr2:51485631-51485642
43	CEBPB	chr2:51077765-51078077	A549	lung:	n/a	chr2:51077903-51077914 chr2:51077818-51077830 chr2:51077904-51077913
44	CEBPB	chr2:51461638-51461868	IMR90	lung:	n/a	chr2:51461726-51461737
45	CEBPB	chr2:51335993-51336283	H1-hESC	embryonic stem cell:	n/a	chr2:51336127-51336140 chr2:51336129-51336138 chr2:51336129-51336138 chr2:51336129-51336138 chr2:51336127-51336138 chr2:51336129-51336138 chr2:51336127-51336140 chr2:51336128-51336139
46	CEBPB	chr2:51185072-51185406	HepG2	liver:	n/a	chr2:51185199-51185212 chr2:51185201-51185210 chr2:51185199-51185210 chr2:51185201-51185210 chr2:51185296-51185308 chr2:51185201-51185210 chr2:51185201-51185210
47	CEBPB	chr2:51051532-51051664	HepG2	liver:	n/a	chr2:51051618-51051629 chr2:51051616-51051627 chr2:51051616-51051629
48	CEBPB	chr2:51430799-51430988	HepG2	liver:	n/a	chr2:51430918-51430929
49	CEBPB	chr2:51256005-51256373	Hela-S3	cervix:	n/a	chr2:51256172-51256183
50	CEBPB	chr2:51335948-51336305	HepG2	liver:	n/a	chr2:51336127-51336140 chr2:51336129-51336138 chr2:51336129-51336138 chr2:51336129-51336138 chr2:51336127-51336138 chr2:51336129-51336138 chr2:51336127-51336140 chr2:51336128-51336139

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:51254170-51254220	RPTEC	kidney:	n/a
2	chr2:51259786-51259836	BE2_C	brain:	n/a
3	chr2:51254021-51254071	HMEC	breast:	n/a
4	chr2:51378948-51378998	Jurkat	blood:	n/a
5	chr2:51259703-51259753	RPTEC	kidney:	n/a
6	chr2:51254170-51254220	RPTEC	kidney:	n/a
7	chr2:51259786-51259836	BE2_C	brain:	n/a
8	chr2:51254021-51254071	HMEC	breast:	n/a
9	chr2:51378948-51378998	Jurkat	blood:	n/a
10	chr2:51259703-51259753	RPTEC	kidney:	n/a
11	chr2:51260003-51260053	H1-hESC	embryonic stem cell:	embryo
12	chr2:51379080-51379130	LNCaP	prostate:	n/a
13	chr2:51255306-51255356	AG04450	lung:	fetal
14	chr2:51254102-51254152	HUVEC	blood vessel:	n/a
15	chr2:51228125-51228175	BE2_C	brain:	n/a
16	chr2:51057548-51057598	H1-hESC	embryonic stem cell:	embryo
17	chr2:51254132-51254182	PrEC	prostate:	n/a
18	chr2:51218880-51218930	AoSMC	blood vessel:	n/a
19	chr2:51260739-51260789	SKMC	muscle:	n/a
20	chr2:51254102-51254152	NH-A	brain:	n/a
21	chr2:51074939-51074989	PFSK-1	brain:	n/a
22	chr2:51259697-51259747	BJ	skin:	n/a
23	chr2:51255306-51255356	Hepatocyte	liver:	n/a
24	chr2:51254170-51254220	HPAEpiC	pulmonary alveolar:	n/a
25	chr2:51254132-51254182	AG09319	gingival:	n/a
26	chr2:51379080-51379130	SK-N-MC	brain:	n/a
27	chr2:51240310-51240360	AG04449	skin:	fetal
28	chr2:51259493-51259543	HUVEC	blood vessel:	n/a
29	chr2:51378948-51378998	HepG2	liver:	n/a
30	chr2:51254021-51254071	SK-N-SH	brain:	n/a
31	chr2:51255324-51255374	ovcar-3	ovarian:	n/a
32	chr2:51259697-51259747	HEK293	kidney:	embryo
33	chr2:51057548-51057598	HEEpiC	esophagus:	n/a
34	chr2:51379080-51379130	H1-hESC	embryonic stem cell:	embryo
35	chr2:51255627-51255677	Hepatocyte	liver:	n/a
36	chr2:51259703-51259753	HCM	heart:	n/a
37	chr2:51254170-51254220	GM19239	blood:	n/a
38	chr2:50992829-50992879	ovcar-3	ovarian:	n/a
39	chr2:51379080-51379130	HPAEpiC	pulmonary alveolar:	n/a
40	chr2:51254132-51254182	Jurkat	blood:	n/a
41	chr2:51254170-51254220	MCF10A-Er-Src	breast:	n/a
42	chr2:51260003-51260053	HRCEpiC	kidney:	n/a
43	chr2:51218880-51218930	Caco-2	colon:	n/a
44	chr2:51259703-51259753	ECC-1	luminal epithelium:	n/a
45	chr2:51001003-51001053	HL-60	blood:	n/a
46	chr2:51259697-51259747	SKMC	muscle:	n/a
47	chr2:51254170-51254220	AG04449	skin:	fetal
48	chr2:51218880-51218930	ECC-1	luminal epithelium:	n/a
49	chr2:51254170-51254220	PrEC	prostate:	n/a
50	chr2:51252301-51252351	Hepatocyte	liver:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:51152622..51154221-chr2:51156441..51158727,2	K562	blood:
2	chr2:51437981..51439669-chr2:51441644..51443887,2	K562	blood:
3	chr2:51018306..51019906-chr2:51022210..51025087,2	K562	blood:
4	chr2:51107834..51110098-chr2:51577616..51579275,2	K562	blood:
5	chr2:51084150..51086897-chr2:51088805..51090362,2	K562	blood:
6	chr2:50985182..50988156-chr2:50995412..50998213,2	K562	blood:
7	chr2:51395839..51397846-chr2:51399820..51401986,2	K562	blood:
8	chr2:51144781..51146893-chr2:51147491..51149076,2	K562	blood:
9	chr2:51260931..51263493-chr2:51269854..51271859,2	MCF-7	breast:
10	chr2:51144781..51146893-chr2:51147491..51149076,2	K562	blood:
11	chr2:51450784..51453564-chr2:51456226..51459190,2	MCF-7	breast:
12	chr2:51113708..51115897-chr2:51117205..51120148,2	K562	blood:
13	chr2:51171851..51174700-chr2:51189688..51191274,2	MCF-7	breast:
14	chr2:51135133..51137954-chr2:51139685..51141436,2	MCF-7	breast:
15	chr2:50977335..50979735-chr2:50992909..50995322,2	K562	blood:
16	chr2:51135133..51137954-chr2:51139685..51141436,2	MCF-7	breast:
17	chr2:51281367..51284227-chr2:51284549..51287538,2	K562	blood:
18	chr2:51152622..51154221-chr2:51156441..51158727,2	K562	blood:
19	chr2:51171851..51174700-chr2:51189688..51191274,2	MCF-7	breast:
20	chr2:51313706..51316467-chr2:51317325..51319738,2	K562	blood:
21	chr2:51018306..51019906-chr2:51022210..51025087,2	K562	blood:
22	chr2:50985182..50988156-chr2:50995412..50998213,2	K562	blood:
23	chr2:51281367..51284227-chr2:51284549..51287538,2	K562	blood:
24	chr2:50977335..50979735-chr2:50992909..50995322,2	K562	blood:
25	chr2:51113708..51115897-chr2:51117205..51120148,2	K562	blood:
26	chr2:51437981..51439669-chr2:51441644..51443887,2	K562	blood:
27	chr2:51260931..51263493-chr2:51269854..51271859,2	MCF-7	breast:
28	chr2:51084150..51086897-chr2:51088805..51090362,2	K562	blood:
29	chr2:51395839..51397846-chr2:51399820..51401986,2	K562	blood:
30	chr2:51313706..51316467-chr2:51317325..51319738,2	K562	blood:
31	chr2:51288072..51290967-chr2:232569534..232571521,2	MCF-7	breast:
32	chr2:51450784..51453564-chr2:51456226..51459190,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NRXN1-1	chr2:51448809-51448902	ENSG00000237374
2	lnc-CHAC2-4	chr2:51259739-51260154	ENSG00000231918.1
3	lnc-NRXN1-1	chr2:51448809-51448902	ENSG00000237374
4	lnc-NRXN1-1	chr2:51429219-51429452	ENSG00000237374
5	lnc-NRXN1-1	chr2:51430129-51430286	ENSG00000237374
6	lnc-NRXN1-1	chr2:51429219-51429452	ENSG00000237374
7	lnc-FSHR-5	chr2:51056580-51056816	NONHSAT070648
8	lnc-NRXN1-4	chr2:51413304-51413539	l_1834_chr2:51413303-51423493_76bGuttman_hLF
9	lnc-NRXN1-3	chr2:51282723-51282956	NONHSAT070652
10	lnc-NRXN1-3	chr2:51283579-51283793	l_1833_chr2:51283578-51306188_testes
11	lnc-NRXN1-1	chr2:51430129-51430299	ENSG00000237374
12	lnc-NRXN1-3	chr2:51283633-51283791	NONHSAT070652
13	lnc-NRXN1-4	chr2:51423222-51423493	l_1834_chr2:51413303-51423493_76bGuttman_hLF
14	lnc-NRXN1-3	chr2:51294575-51294743	l_1833_chr2:51283578-51306188_testes
15	lnc-NRXN1-4	chr2:51414157-51414291	l_1834_chr2:51413303-51423493_76bGuttman_hLF
16	lnc-NRXN1-3	chr2:51302313-51302437	l_1833_chr2:51283578-51306188_testes
17	lnc-CHAC2-4	chr2:51279495-51279592	ENSG00000231918.1
18	lnc-NRXN1-3	chr2:51302314-51302406	NONHSAT070652
19	lnc-NRXN1-3	chr2:51306149-51306209	l_1833_chr2:51283578-51306188_testes

Variant related genes	Relation type
ENSG00000238165	TF binding region
NRXN1	TF binding region
ENSG00000216011	TF binding region
ENSG00000272385	TF binding region
ENSG00000215968	TF binding region
ENSG00000231918	TF binding region
ENSG00000237374	TF binding region
ENSG00000238165	CpG island
NRXN1	CpG island
ENSG00000216011	CpG island
ENSG00000272385	CpG island
ENSG00000215968	CpG island
ENSG00000231918	CpG island
ENSG00000237374	CpG island

Extended variants
information (count: 16374 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:16374 , 50 per page) page: 1 2 3 4 5 6 7 ... 328

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149399630	chr2:50978466-50978467	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181807696	chr2:50978527-50978528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs552854054	chr2:50978549-50978550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537782970	chr2:50978571-50978572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375708021	chr2:50978576-50978577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559201193	chr2:50978579-50978580	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs572986835	chr2:50978604-50978605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11893978	chr2:50978621-50978622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs11894041	chr2:50978637-50978638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs17502643	chr2:50978651-50978652	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs371343983	chr2:50978663-50978664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186025835	chr2:50978684-50978685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548510347	chr2:50978739-50978740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190929954	chr2:50978740-50978741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562982479	chr2:50978752-50978753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182491723	chr2:50978768-50978769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186709439	chr2:50978786-50978787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190071355	chr2:50978800-50978801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528108953	chr2:50978805-50978806	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs144847781	chr2:50978837-50978838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568085229	chr2:50978863-50978864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561946136	chr2:50978873-50978874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530942031	chr2:50978944-50978945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548809308	chr2:50978956-50978957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs570314908	chr2:50978969-50978970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs368861820	chr2:50979008-50979009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs537735997	chr2:50979027-50979028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs140159354	chr2:50979078-50979079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs570807732	chr2:50979148-50979149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183054538	chr2:50979207-50979208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553400716	chr2:50979254-50979255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574605096	chr2:50979314-50979315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374532984	chr2:50979315-50979316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs187230257	chr2:50979355-50979356	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556737323	chr2:50979362-50979363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs575138905	chr2:50979383-50979384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530979341	chr2:50979433-50979434	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545678399	chr2:50979437-50979438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs564253056	chr2:50979446-50979447	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528060839	chr2:50979511-50979512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs116382994	chr2:50979527-50979528	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561781640	chr2:50979616-50979617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529000096	chr2:50979618-50979619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550740153	chr2:50979645-50979646	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570251990	chr2:50979647-50979648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs531161468	chr2:50979665-50979666	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552810731	chr2:50979672-50979673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571077238	chr2:50979695-50979696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112616018	chr2:50979700-50979701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371972053	chr2:50979710-50979711	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:113)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Basal cell lymphoma	21115979	CNVD
Cognitive impairment	21505072	CNVD
Psychiatric disorder	19734545	CNVD
Autism	20844286	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Autism	19218893	CNVD
Autism	22209245	CNVD
Neuropsychiatric disorder	21827697	CNVD
Schizophrenia	22118685	CNVD
Autism	20663923	CNVD
Schizophrenia	21285140	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	22885689	CNVD
Autism	20964600	CNVD
Schizophrenia	19521646	CNVD
Attention deficit hyperactivity disorder	22214315	CNVD
Chronic motor tic disorder	22214315	CNVD
Schizophrenia	22214315	CNVD
Mental retardation	19896112	CNVD
Schizophrenia	20967226	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	17989066	CNVD
Autism	19404257	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD

Chromatin state (count:1747 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50976000-50978600	Weak transcription	Fetal Muscle Leg	muscle
2	chr2:50976200-50982800	Weak transcription	Brain Substantia Nigra	brain
3	chr2:50976600-50979800	Enhancers	Fetal Stomach	stomach
4	chr2:50976600-50983200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr2:50977000-50982200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:50977400-50983600	Weak transcription	Brain Hippocampus Middle	brain
7	chr2:50977400-50984400	Enhancers	Fetal Brain Female	brain
8	chr2:50978200-50978800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:50978200-50979200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:50978200-50979200	Enhancers	Colon Smooth Muscle	Colon
11	chr2:50978200-50979400	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr2:50978200-50979600	Enhancers	Rectal Smooth Muscle	rectum
13	chr2:50978200-50980400	Enhancers	Brain Germinal Matrix	brain
14	chr2:50978200-50980400	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr2:50978400-50978800	Enhancers	NH-A	brain
16	chr2:50978400-50980800	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr2:50978400-50984400	Enhancers	Fetal Brain Male	brain
18	chr2:50978600-50978800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:50978600-50979200	Enhancers	Fetal Muscle Leg	muscle
20	chr2:50978800-50979400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:50979200-50982200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:50979200-50982200	Weak transcription	Fetal Muscle Leg	muscle
23	chr2:50979400-50979600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:50979400-50980800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:50979600-50982400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:50980200-50981000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:50980400-50980800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:50980400-50981200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr2:50980400-50981800	Weak transcription	Brain Germinal Matrix	brain
30	chr2:50980800-50982000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr2:50980800-50984000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:50981200-50983400	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr2:50981800-50982600	Enhancers	Brain Germinal Matrix	brain
34	chr2:50982000-50983200	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr2:50982200-50982400	Enhancers	Fetal Muscle Leg	muscle
36	chr2:50982200-50982600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:50982200-50982600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:50982400-50982600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:50982600-50983400	Weak transcription	Brain Germinal Matrix	brain
40	chr2:50982600-50991200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:50982800-50983000	Enhancers	Brain Substantia Nigra	brain
42	chr2:50983000-50983200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr2:50983000-50983600	Weak transcription	Brain Substantia Nigra	brain
44	chr2:50983200-50983400	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr2:50983200-50983600	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr2:50983200-50991800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr2:50983200-50996800	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr2:50983400-50983600	Enhancers	Brain Germinal Matrix	brain
49	chr2:50983400-50983800	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr2:50983600-50983800	Enhancers	Brain Hippocampus Middle	brain

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