Variant report

Variant	nsv1002692
Chromosome Location	chr2:51074517-51304366
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	ATF2	chr2:51259057-51259636	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr2:51259020-51259511	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr2:51246247-51246255	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	chr2:51083034-51083154	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr2:51240144-51240458	H1-hESC	embryonic stem cell:	n/a	n/a
7	BRCA1	chr2:51185262-51185455	H1-hESC	embryonic stem cell:	n/a	n/a
8	BRCA1	chr2:51259605-51259656	H1-hESC	embryonic stem cell:	n/a	n/a
9	BRCA1	chr2:51214813-51214934	Hela-S3	cervix:	n/a	n/a
10	BRCA1	chr2:51179768-51180665	Hela-S3	cervix:	n/a	n/a
11	CBX3	chr2:51240017-51240569	HCT-116	colon:	n/a	n/a
12	CEBPB	chr2:51084914-51085194	A549	lung:	n/a	chr2:51085060-51085071
13	CEBPB	chr2:51185005-51185419	IMR90	lung:	n/a	chr2:51185199-51185212 chr2:51185201-51185210 chr2:51185199-51185210 chr2:51185201-51185210 chr2:51185296-51185308 chr2:51185201-51185210 chr2:51185201-51185210
14	CEBPB	chr2:51240147-51240542	MCF-7	breast:	n/a	n/a
15	CEBPB	chr2:51077720-51078095	HepG2	liver:	n/a	chr2:51077903-51077914 chr2:51077818-51077830 chr2:51077904-51077913
16	CEBPB	chr2:51229679-51229969	HepG2	liver:	n/a	chr2:51229820-51229831
17	CEBPB	chr2:51185019-51185391	H1-hESC	embryonic stem cell:	n/a	chr2:51185199-51185212 chr2:51185201-51185210 chr2:51185199-51185210 chr2:51185201-51185210 chr2:51185296-51185308 chr2:51185201-51185210 chr2:51185201-51185210
18	CEBPB	chr2:51184010-51184263	HepG2	liver:	n/a	chr2:51184131-51184142
19	CEBPB	chr2:51259207-51259533	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr2:51172595-51172790	HepG2	liver:	n/a	chr2:51172679-51172690
21	CEBPB	chr2:51196130-51196480	HepG2	liver:	n/a	n/a
22	CEBPB	chr2:51163327-51163752	IMR90	lung:	n/a	chr2:51163617-51163628 chr2:51163618-51163627 chr2:51163616-51163629 chr2:51163420-51163433 chr2:51163616-51163627
23	CEBPB	chr2:51185035-51185357	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
24	CEBPB	chr2:51282756-51283052	HepG2	liver:	n/a	chr2:51282886-51282897
25	CEBPB	chr2:51077732-51078049	Hela-S3	cervix:	n/a	chr2:51077903-51077914 chr2:51077818-51077830 chr2:51077904-51077913
26	CEBPB	chr2:51179763-51180618	IMR90	lung:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
27	CEBPB	chr2:51272237-51272566	HepG2	liver:	n/a	chr2:51272397-51272408 chr2:51272396-51272409
28	CEBPB	chr2:51180120-51180462	HepG2	liver:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
29	CEBPB	chr2:51178589-51178949	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr2:51180081-51180588	ECC-1	luminal epithelium:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
31	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
32	CEBPB	chr2:51196305-51196335	K562	blood:	n/a	n/a
33	CEBPB	chr2:51255984-51256364	HepG2	liver:	n/a	chr2:51256172-51256183
34	CEBPB	chr2:51255998-51256347	A549	lung:	n/a	chr2:51256172-51256183
35	CEBPB	chr2:51272267-51272564	A549	lung:	n/a	chr2:51272397-51272408 chr2:51272396-51272409
36	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
37	CEBPB	chr2:51080929-51081152	A549	lung:	n/a	chr2:51081037-51081050 chr2:51081039-51081048
38	CEBPB	chr2:51179722-51180770	HCT-116	colon:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
39	CEBPB	chr2:51180217-51180418	K562	blood:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
40	CEBPB	chr2:51077727-51078088	H1-hESC	embryonic stem cell:	n/a	chr2:51077903-51077914 chr2:51077818-51077830 chr2:51077904-51077913
41	CEBPB	chr2:51163520-51163763	A549	lung:	n/a	chr2:51163617-51163628 chr2:51163618-51163627 chr2:51163616-51163629 chr2:51163616-51163627
42	CEBPB	chr2:51236313-51236416	A549	lung:	n/a	n/a
43	CEBPB	chr2:51077746-51078099	IMR90	lung:	n/a	chr2:51077903-51077914 chr2:51077818-51077830 chr2:51077904-51077913
44	CEBPB	chr2:51179698-51180729	Hela-S3	cervix:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
45	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
46	CEBPB	chr2:51196168-51196459	IMR90	lung:	n/a	n/a
47	CEBPB	chr2:51185014-51185411	Hela-S3	cervix:	n/a	chr2:51185199-51185212 chr2:51185201-51185210 chr2:51185199-51185210 chr2:51185201-51185210 chr2:51185296-51185308 chr2:51185201-51185210 chr2:51185201-51185210
48	CEBPB	chr2:51184080-51184410	A549	lung:	n/a	chr2:51184131-51184142
49	CEBPB	chr2:51180205-51180442	H1-hESC	embryonic stem cell:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
50	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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:51255306-51255356	BE2_C	brain:	n/a
2	chr2:51254021-51254071	ovcar-3	ovarian:	n/a
3	chr2:51254170-51254220	AoSMC	blood vessel:	n/a
4	chr2:51259493-51259543	HRCEpiC	kidney:	n/a
5	chr2:51255306-51255356	BE2_C	brain:	n/a
6	chr2:51254021-51254071	ovcar-3	ovarian:	n/a
7	chr2:51254170-51254220	AoSMC	blood vessel:	n/a
8	chr2:51259493-51259543	HRCEpiC	kidney:	n/a
9	chr2:51259807-51259857	AG04450	lung:	fetal
10	chr2:51254021-51254071	LNCaP	prostate:	n/a
11	chr2:51254981-51255031	AoSMC	blood vessel:	n/a
12	chr2:51240310-51240360	HIPEpiC	eye:	n/a
13	chr2:51228125-51228175	HEEpiC	esophagus:	n/a
14	chr2:51259786-51259836	LNCaP	prostate:	n/a
15	chr2:51260003-51260053	MCF10A-Er-Src	breast:	n/a
16	chr2:51228125-51228175	GM19239	blood:	n/a
17	chr2:51259493-51259543	T-47D	breast:	n/a
18	chr2:51254170-51254220	Caco-2	colon:	n/a
19	chr2:51254132-51254182	GM19239	blood:	n/a
20	chr2:51254132-51254182	HAEpiC	amniotic membrane:	n/a
21	chr2:51255306-51255356	AoSMC	blood vessel:	n/a
22	chr2:51259786-51259836	GM19239	blood:	n/a
23	chr2:51255324-51255374	GM19239	blood:	n/a
24	chr2:51259786-51259836	SK-N-SH	brain:	n/a
25	chr2:51074939-51074989	HNPCEpiC	eye:	n/a
26	chr2:51255306-51255356	HL-60	blood:	n/a
27	chr2:51259786-51259836	HCF	heart:	n/a
28	chr2:51255306-51255356	Caco-2	colon:	n/a
29	chr2:51259552-51259602	A549	lung:	n/a
30	chr2:51254823-51254873	CMK	blood:	n/a
31	chr2:51260739-51260789	HNPCEpiC	eye:	n/a
32	chr2:51260003-51260053	SK-N-SH	brain:	n/a
33	chr2:51260739-51260789	PrEC	prostate:	n/a
34	chr2:51255627-51255677	MCF-7	breast:	n/a
35	chr2:51260003-51260053	NH-A	brain:	n/a
36	chr2:51254021-51254071	HL-60	blood:	n/a
37	chr2:51240310-51240360	PrEC	prostate:	n/a
38	chr2:51255324-51255374	PFSK-1	brain:	n/a
39	chr2:51259493-51259543	AG09309	skin:	n/a
40	chr2:51228125-51228175	H1-hESC	embryonic stem cell:	embryo
41	chr2:51259807-51259857	HCF	heart:	n/a
42	chr2:51254021-51254071	BJ	skin:	n/a
43	chr2:51255324-51255374	Jurkat	blood:	n/a
44	chr2:51255306-51255356	HRCEpiC	kidney:	n/a
45	chr2:51252301-51252351	HCT-116	colon:	n/a
46	chr2:51259693-51259743	SK-N-SH	brain:	n/a
47	chr2:51260739-51260789	NH-A	brain:	n/a
48	chr2:51259697-51259747	GM19239	blood:	n/a
49	chr2:51255324-51255374	AG09319	gingival:	n/a
50	chr2:51240310-51240360	AG09319	gingival:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:51152622..51154221-chr2:51156441..51158727,2	K562	blood:
2	chr2:51113708..51115897-chr2:51117205..51120148,2	K562	blood:
3	chr2:51107834..51110098-chr2:51577616..51579275,2	K562	blood:
4	chr2:51281367..51284227-chr2:51284549..51287538,2	K562	blood:
5	chr2:51113708..51115897-chr2:51117205..51120148,2	K562	blood:
6	chr2:51152622..51154221-chr2:51156441..51158727,2	K562	blood:
7	chr2:51260931..51263493-chr2:51269854..51271859,2	MCF-7	breast:
8	chr2:51281367..51284227-chr2:51284549..51287538,2	K562	blood:
9	chr2:51171851..51174700-chr2:51189688..51191274,2	MCF-7	breast:
10	chr2:51135133..51137954-chr2:51139685..51141436,2	MCF-7	breast:
11	chr2:51084150..51086897-chr2:51088805..51090362,2	K562	blood:
12	chr2:51171851..51174700-chr2:51189688..51191274,2	MCF-7	breast:
13	chr2:51260931..51263493-chr2:51269854..51271859,2	MCF-7	breast:
14	chr2:51144781..51146893-chr2:51147491..51149076,2	K562	blood:
15	chr2:51144781..51146893-chr2:51147491..51149076,2	K562	blood:
16	chr2:51288072..51290967-chr2:232569534..232571521,2	MCF-7	breast:
17	chr2:51084150..51086897-chr2:51088805..51090362,2	K562	blood:
18	chr2:51135133..51137954-chr2:51139685..51141436,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NRXN1-3	chr2:51302313-51302437	l_1833_chr2:51283578-51306188_testes
2	lnc-NRXN1-3	chr2:51282723-51282956	NONHSAT070652
3	lnc-CHAC2-4	chr2:51259739-51260154	ENSG00000231918.1
4	lnc-CHAC2-4	chr2:51279495-51279592	ENSG00000231918.1
5	lnc-NRXN1-3	chr2:51302314-51302406	NONHSAT070652
6	lnc-NRXN1-3	chr2:51283579-51283793	l_1833_chr2:51283578-51306188_testes
7	lnc-NRXN1-3	chr2:51294575-51294743	l_1833_chr2:51283578-51306188_testes
8	lnc-NRXN1-3	chr2:51283633-51283791	NONHSAT070652

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

Extended variants
information (count: 8246 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:8246 , 50 per page) page: 1 2 3 4 5 6 7 ... 165

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76910187	chr2:51074521-51074522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs553447567	chr2:51074536-51074537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375089685	chr2:51074591-51074592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547961050	chr2:51074615-51074616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185014829	chr2:51074616-51074617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs10460541	chr2:51074629-51074630	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs548933622	chr2:51074630-51074631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570034035	chr2:51074647-51074648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555582232	chr2:51074678-51074679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537465959	chr2:51074701-51074702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs10460542	chr2:51074740-51074741	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs570935949	chr2:51074766-51074767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544506424	chr2:51074779-51074780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553873637	chr2:51074800-51074801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs534848951	chr2:51074836-51074837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553132703	chr2:51074842-51074843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574324078	chr2:51074849-51074850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190704317	chr2:51074864-51074865	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556857920	chr2:51074865-51074866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10460543	chr2:51074879-51074880	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs369116689	chr2:51074907-51074908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545792005	chr2:51074924-51074925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576791106	chr2:51074937-51074938	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372577041	chr2:51074988-51074989	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572890483	chr2:51074995-51074996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181834603	chr2:51075030-51075031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559971254	chr2:51075062-51075063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200299557	chr2:51075074-51075075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186370164	chr2:51075094-51075095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189994597	chr2:51075157-51075158	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs72891303	chr2:51075167-51075168	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs530888091	chr2:51075204-51075205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549450509	chr2:51075217-51075218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555803385	chr2:51075218-51075219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552536696	chr2:51075254-51075255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570806770	chr2:51075277-51075278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535100123	chr2:51075287-51075288	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557684582	chr2:51075294-51075295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs546791831	chr2:51075295-51075296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs559280862	chr2:51075309-51075310	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528244999	chr2:51075310-51075311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373142914	chr2:51075373-51075374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138369839	chr2:51075379-51075380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs180856784	chr2:51075473-51075474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115225923	chr2:51075485-51075486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561871711	chr2:51075489-51075490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs575178168	chr2:51075543-51075544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76216567	chr2:51075544-51075545	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370186309	chr2:51075568-51075569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572784181	chr2:51075612-51075613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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

Chromatin state (count:1091 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:51066000-51074600	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr2:51070000-51078000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:51071200-51076000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr2:51074200-51075000	Enhancers	Ovary	ovary
5	chr2:51074400-51076200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:51074400-51076800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:51074600-51075000	Enhancers	H1 Cell Line	embryonic stem cell
8	chr2:51074800-51075000	Enhancers	Pancreas	Pancrea
9	chr2:51075000-51084400	Weak transcription	Ovary	ovary
10	chr2:51075200-51077200	Weak transcription	Pancreas	Pancrea
11	chr2:51076800-51077000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:51077000-51077400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:51077200-51077400	Enhancers	Pancreas	Pancrea
14	chr2:51077200-51077800	Enhancers	Liver	Liver
15	chr2:51077200-51078200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr2:51077400-51078200	Weak transcription	Pancreas	Pancrea
17	chr2:51077400-51078400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:51077600-51078600	Enhancers	Fetal Brain Male	brain
19	chr2:51078000-51078200	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr2:51078200-51078400	Enhancers	Fetal Brain Female	brain
21	chr2:51078200-51078800	Enhancers	Pancreas	Pancrea
22	chr2:51078200-51089600	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr2:51078400-51079200	Weak transcription	Fetal Brain Female	brain
24	chr2:51078600-51079000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:51078600-51080200	Weak transcription	Fetal Brain Male	brain
26	chr2:51079200-51079400	Enhancers	Fetal Brain Female	brain
27	chr2:51079400-51080200	Weak transcription	Fetal Brain Female	brain
28	chr2:51080000-51080400	Enhancers	Brain Germinal Matrix	brain
29	chr2:51080200-51080600	Enhancers	Fetal Brain Male	brain
30	chr2:51080200-51080800	Enhancers	Fetal Brain Female	brain
31	chr2:51080400-51084400	Weak transcription	Brain Germinal Matrix	brain
32	chr2:51080600-51083200	Weak transcription	Fetal Brain Male	brain
33	chr2:51080800-51081200	Weak transcription	Fetal Brain Female	brain
34	chr2:51081200-51081800	Enhancers	Fetal Brain Female	brain
35	chr2:51081800-51082800	Weak transcription	Fetal Brain Female	brain
36	chr2:51082600-51085200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr2:51082800-51083200	Enhancers	Fetal Brain Female	brain
38	chr2:51083200-51084400	Enhancers	Fetal Brain Male	brain
39	chr2:51083200-51084800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:51083200-51108400	Weak transcription	Fetal Brain Female	brain
41	chr2:51083400-51084200	Enhancers	Fetal Kidney	kidney
42	chr2:51084400-51085000	Weak transcription	Fetal Brain Male	brain
43	chr2:51084400-51085200	Enhancers	Ovary	ovary
44	chr2:51084400-51086600	Enhancers	Brain Germinal Matrix	brain
45	chr2:51084800-51089600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:51085000-51085200	Enhancers	Fetal Brain Male	brain
47	chr2:51085200-51085600	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr2:51085200-51085600	Enhancers	Brain Cingulate Gyrus	brain
49	chr2:51085200-51086000	Weak transcription	Ovary	ovary
50	chr2:51085200-51089600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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