Variant report

Variant	nsv874054
Chromosome Location	chr2:51108133-51451120
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	chr2:51259057-51259636	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr2:51259020-51259511	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr2:51155966-51156146	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr2:51240144-51240458	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr2:51246247-51246255	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr2:51330505-51330576	H1-hESC	embryonic stem cell:	n/a	n/a
8	BATF	chr2:51439527-51439799	GM12878	blood:	n/a	chr2:51439631-51439642
9	BHLHE40	chr2:51330297-51330702	HepG2	liver:	n/a	n/a
10	BHLHE40	chr2:51439638-51439779	GM12878	blood:	n/a	n/a
11	BRCA1	chr2:51214813-51214934	Hela-S3	cervix:	n/a	n/a
12	BRCA1	chr2:51259605-51259656	H1-hESC	embryonic stem cell:	n/a	n/a
13	BRCA1	chr2:51185262-51185455	H1-hESC	embryonic stem cell:	n/a	n/a
14	BRCA1	chr2:51330435-51330474	H1-hESC	embryonic stem cell:	n/a	n/a
15	BRCA1	chr2:51179768-51180665	Hela-S3	cervix:	n/a	n/a
16	CBX3	chr2:51240017-51240569	HCT-116	colon:	n/a	n/a
17	CCNT2	chr2:51398751-51398851	K562	blood:	n/a	n/a
18	CEBPB	chr2:51163450-51163794	HepG2	liver:	n/a	chr2:51163617-51163628 chr2:51163618-51163627 chr2:51163616-51163629 chr2:51163616-51163627
19	CEBPB	chr2:51335991-51336268	Hela-S3	cervix:	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
20	CEBPB	chr2:51185008-51185377	MCF-7	breast:	n/a	chr2:51185199-51185212 chr2:51185201-51185210 chr2:51185199-51185210 chr2:51185201-51185210 chr2:51185296-51185308 chr2:51185201-51185210 chr2:51185201-51185210
21	CEBPB	chr2:51324687-51324910	HepG2	liver:	n/a	chr2:51324819-51324830
22	CEBPB	chr2:51255989-51256366	IMR90	lung:	n/a	chr2:51256172-51256183
23	CEBPB	chr2:51272237-51272566	HepG2	liver:	n/a	chr2:51272397-51272408 chr2:51272396-51272409
24	CEBPB	chr2:51240147-51240542	MCF-7	breast:	n/a	n/a
25	CEBPB	chr2:51314497-51314768	A549	lung:	n/a	chr2:51314679-51314692 chr2:51314681-51314692 chr2:51314679-51314692 chr2:51314681-51314692
26	CEBPB	chr2:51335948-51336306	IMR90	lung:	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
27	CEBPB	chr2:51255980-51256366	H1-hESC	embryonic stem cell:	n/a	chr2:51256172-51256183
28	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
29	CEBPB	chr2:51184080-51184410	A549	lung:	n/a	chr2:51184131-51184142
30	CEBPB	chr2:51255964-51256336	MCF-7	breast:	n/a	chr2:51256172-51256183
31	CEBPB	chr2:51325442-51325765	IMR90	lung:	n/a	chr2:51325594-51325607
32	CEBPB	chr2:51430799-51430988	HepG2	liver:	n/a	chr2:51430918-51430929
33	CEBPB	chr2:51430857-51430966	H1-hESC	embryonic stem cell:	n/a	chr2:51430918-51430929
34	CEBPB	chr2:51282756-51283052	HepG2	liver:	n/a	chr2:51282886-51282897
35	CEBPB	chr2:51335946-51336321	K562	blood:	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
36	CEBPB	chr2:51259207-51259533	H1-hESC	embryonic stem cell:	n/a	n/a
37	CEBPB	chr2:51335946-51336285	A549	lung:	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
38	CEBPB	chr2:51330315-51330732	IMR90	lung:	n/a	n/a
39	CEBPB	chr2:51127917-51128117	HepG2	liver:	n/a	n/a
40	CEBPB	chr2:51376877-51377106	A549	lung:	n/a	n/a
41	CEBPB	chr2:51196168-51196459	IMR90	lung:	n/a	n/a
42	CEBPB	chr2:51180120-51180462	HepG2	liver:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
43	CEBPB	chr2:51184978-51185335	A549	lung:	n/a	chr2:51185199-51185212 chr2:51185201-51185210 chr2:51185199-51185210 chr2:51185201-51185210 chr2:51185296-51185308 chr2:51185201-51185210 chr2:51185201-51185210
44	CEBPB	chr2:51256004-51256330	K562	blood:	n/a	chr2:51256172-51256183
45	CEBPB	chr2:51330496-51330704	HepG2	liver:	n/a	n/a
46	CEBPB	chr2:51185063-51185361	K562	blood:	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	chr2:51256083-51256253	HepG2	liver:	n/a	chr2:51256172-51256183
48	CEBPB	chr2:51229696-51229991	IMR90	lung:	n/a	chr2:51229820-51229831
49	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
50	CEBPB	chr2:51282778-51283040	IMR90	lung:	n/a	chr2:51282886-51282897

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:51254102-51254152	HEK293	kidney:	embryo
2	chr2:51259807-51259857	HNPCEpiC	eye:	n/a
3	chr2:51260739-51260789	MCF10A-Er-Src	breast:	n/a
4	chr2:51260739-51260789	AG04449	skin:	fetal
5	chr2:51259703-51259753	Jurkat	blood:	n/a
6	chr2:51254102-51254152	HEK293	kidney:	embryo
7	chr2:51259807-51259857	HNPCEpiC	eye:	n/a
8	chr2:51260739-51260789	MCF10A-Er-Src	breast:	n/a
9	chr2:51260739-51260789	AG04449	skin:	fetal
10	chr2:51259703-51259753	Jurkat	blood:	n/a
11	chr2:51259807-51259857	HL-60	blood:	n/a
12	chr2:51260739-51260789	HCF	heart:	n/a
13	chr2:51240310-51240360	HRE	kidney:	n/a
14	chr2:51240310-51240360	HEEpiC	esophagus:	n/a
15	chr2:51255627-51255677	HRCEpiC	kidney:	n/a
16	chr2:51260739-51260789	MCF-7	breast:	n/a
17	chr2:51254981-51255031	NB4	blood:	n/a
18	chr2:51259493-51259543	A549	lung:	n/a
19	chr2:51254981-51255031	SKMC	muscle:	n/a
20	chr2:51259693-51259743	BJ	skin:	n/a
21	chr2:51254021-51254071	AG04449	skin:	fetal
22	chr2:51254102-51254152	HCF	heart:	n/a
23	chr2:51240310-51240360	SKMC	muscle:	n/a
24	chr2:51255324-51255374	GM12892	blood:	n/a
25	chr2:51260003-51260053	GM06990	blood:	n/a
26	chr2:51446925-51446975	SK-N-SH_RA	brain:	n/a
27	chr2:51260003-51260053	PrEC	prostate:	n/a
28	chr2:51228125-51228175	AG09319	gingival:	n/a
29	chr2:51218880-51218930	BJ	skin:	n/a
30	chr2:51260003-51260053	NB4	blood:	n/a
31	chr2:51255627-51255677	AG09319	gingival:	n/a
32	chr2:51260003-51260053	MCF-7	breast:	n/a
33	chr2:51254823-51254873	HUVEC	blood vessel:	n/a
34	chr2:51218880-51218930	NHDF-neo	bronchial:	n/a
35	chr2:51260739-51260789	LNCaP	prostate:	n/a
36	chr2:51231649-51231699	HepG2	liver:	n/a
37	chr2:51252301-51252351	BJ	skin:	n/a
38	chr2:51255306-51255356	ProgFib	skin:	n/a
39	chr2:51228125-51228175	AG10803	skin:	n/a
40	chr2:51254170-51254220	RPTEC	kidney:	n/a
41	chr2:51259552-51259602	NT2-D1	testis:	n/a
42	chr2:51259552-51259602	GM06990	blood:	n/a
43	chr2:51446925-51446975	IMR90	lung:	fetal
44	chr2:51255627-51255677	HMEC	breast:	n/a
45	chr2:51259786-51259836	HMEC	breast:	n/a
46	chr2:51218880-51218930	AG09319	gingival:	n/a
47	chr2:51260399-51260449	H1-hESC	embryonic stem cell:	embryo
48	chr2:51446925-51446975	HIPEpiC	eye:	n/a
49	chr2:51259493-51259543	MCF-7	breast:	n/a
50	chr2:51240310-51240360	ProgFib	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:51437981..51439669-chr2:51441644..51443887,2	K562	blood:
2	chr2:51395839..51397846-chr2:51399820..51401986,2	K562	blood:
3	chr2:51281367..51284227-chr2:51284549..51287538,2	K562	blood:
4	chr2:51260931..51263493-chr2:51269854..51271859,2	MCF-7	breast:
5	chr2:51152622..51154221-chr2:51156441..51158727,2	K562	blood:
6	chr2:51437981..51439669-chr2:51441644..51443887,2	K562	blood:
7	chr2:51395839..51397846-chr2:51399820..51401986,2	K562	blood:
8	chr2:51144781..51146893-chr2:51147491..51149076,2	K562	blood:
9	chr2:51171851..51174700-chr2:51189688..51191274,2	MCF-7	breast:
10	chr2:51152622..51154221-chr2:51156441..51158727,2	K562	blood:
11	chr2:51313706..51316467-chr2:51317325..51319738,2	K562	blood:
12	chr2:51144781..51146893-chr2:51147491..51149076,2	K562	blood:
13	chr2:51107834..51110098-chr2:51577616..51579275,2	K562	blood:
14	chr2:51113708..51115897-chr2:51117205..51120148,2	K562	blood:
15	chr2:51135133..51137954-chr2:51139685..51141436,2	MCF-7	breast:
16	chr2:51281367..51284227-chr2:51284549..51287538,2	K562	blood:
17	chr2:51171851..51174700-chr2:51189688..51191274,2	MCF-7	breast:
18	chr2:51135133..51137954-chr2:51139685..51141436,2	MCF-7	breast:
19	chr2:51260931..51263493-chr2:51269854..51271859,2	MCF-7	breast:
20	chr2:51288072..51290967-chr2:232569534..232571521,2	MCF-7	breast:
21	chr2:51450784..51453564-chr2:51456226..51459190,2	MCF-7	breast:
22	chr2:51313706..51316467-chr2:51317325..51319738,2	K562	blood:
23	chr2:51113708..51115897-chr2:51117205..51120148,2	K562	blood:

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

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

Extended variants
information (count: 9388 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:9388 , 50 per page) page: 1 2 3 4 5 6 7 ... 188

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs983936	chr2:51108133-51108134	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs550945202	chr2:51108134-51108135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571035429	chr2:51108139-51108140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145695153	chr2:51108187-51108188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138290750	chr2:51108193-51108194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs983937	chr2:51108205-51108206	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs547226926	chr2:51108228-51108229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557092443	chr2:51108324-51108325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575366405	chr2:51108326-51108327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78762554	chr2:51108344-51108345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs374771210	chr2:51108386-51108387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs112227260	chr2:51108626-51108627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6419621	chr2:51108711-51108712	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs570107835	chr2:51108715-51108716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572619454	chr2:51108752-51108753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570803263	chr2:51108801-51108802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs141358687	chr2:51108804-51108805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546545495	chr2:51108805-51108806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568138540	chr2:51108840-51108841	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533496305	chr2:51108842-51108843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs72840225	chr2:51108879-51108880	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs371216212	chr2:51108892-51108893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs557159672	chr2:51108915-51108916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550033918	chr2:51110813-51110814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs571236544	chr2:51110837-51110838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs150575435	chr2:51110867-51110868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs139565971	chr2:51110889-51110890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565388895	chr2:51110942-51110943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536367876	chr2:51110955-51110956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs370346335	chr2:51111003-51111004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373013937	chr2:51111035-51111036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574161583	chr2:51111037-51111038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs34561702	chr2:51111054-51111055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535144360	chr2:51111057-51111058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs544504751	chr2:51111104-51111105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs62140638	chr2:51111142-51111143	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs574858767	chr2:51111144-51111145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs193090636	chr2:51111148-51111149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs72823540	chr2:51111151-51111152	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs374420794	chr2:51111155-51111156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs527759838	chr2:51111160-51111161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs543126457	chr2:51111169-51111170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542170435	chr2:51111185-51111186	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs577156840	chr2:51111188-51111189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs377302092	chr2:51111210-51111211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369633047	chr2:51111224-51111225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546045211	chr2:51111245-51111246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs531512446	chr2:51111261-51111262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549756373	chr2:51111312-51111313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571200302	chr2:51111348-51111349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
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

Chromatin state (count:1168 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:51083200-51108400	Weak transcription	Fetal Brain Female	brain
2	chr2:51108600-51109000	Enhancers	Brain Germinal Matrix	brain
3	chr2:51110800-51114000	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr2:51111000-51111200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:51111000-51113200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:51111000-51113400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:51111200-51111800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr2:51111800-51112400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:51111800-51112800	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr2:51112800-51113600	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr2:51113600-51114400	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr2:51114400-51114800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr2:51122600-51132800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:51129200-51129400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:51129200-51130000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr2:51129400-51134000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:51130000-51134800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:51134000-51135000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:51134600-51135000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:51134800-51136800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:51135000-51137400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:51136400-51137000	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr2:51136400-51137000	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr2:51136400-51137200	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr2:51136400-51137200	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr2:51136600-51137000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr2:51136600-51137000	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr2:51136600-51137000	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr2:51136600-51137200	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr2:51136800-51140000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr2:51137000-51140400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr2:51137200-51151400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr2:51137400-51138200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr2:51138200-51138400	Enhancers	Fetal Brain Female	brain
35	chr2:51138200-51141200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr2:51138400-51147800	Weak transcription	Fetal Brain Female	brain
37	chr2:51139600-51140800	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr2:51140000-51140400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:51140800-51142600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr2:51141200-51141400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr2:51142600-51142800	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr2:51144600-51147200	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr2:51147200-51147400	Enhancers	Brain Germinal Matrix	brain
44	chr2:51147200-51149000	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr2:51147400-51149800	Weak transcription	Brain Germinal Matrix	brain
46	chr2:51147800-51148200	Enhancers	Fetal Brain Female	brain
47	chr2:51148400-51148600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr2:51148600-51149800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr2:51149000-51149400	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr2:51149400-51149600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet

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