Variant report

Variant	nsv532685
Chromosome Location	chr2:50964848-51400694
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	chr2:51259020-51259511	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr2:51259057-51259636	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr2:51240144-51240458	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	chr2:51246247-51246255	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr2:51155966-51156146	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr2:51330505-51330576	H1-hESC	embryonic stem cell:	n/a	n/a
9	BHLHE40	chr2:51330297-51330702	HepG2	liver:	n/a	n/a
10	BRCA1	chr2:51259605-51259656	H1-hESC	embryonic stem cell:	n/a	n/a
11	BRCA1	chr2:51330435-51330474	H1-hESC	embryonic stem cell:	n/a	n/a
12	BRCA1	chr2:51179768-51180665	Hela-S3	cervix:	n/a	n/a
13	BRCA1	chr2:51185262-51185455	H1-hESC	embryonic stem cell:	n/a	n/a
14	BRCA1	chr2:51214813-51214934	Hela-S3	cervix:	n/a	n/a
15	CBX3	chr2:51240017-51240569	HCT-116	colon:	n/a	n/a
16	CCNT2	chr2:51398751-51398851	K562	blood:	n/a	n/a
17	CEBPB	chr2:51185020-51185401	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
18	CEBPB	chr2:51236313-51236416	A549	lung:	n/a	n/a
19	CEBPB	chr2:51068879-51068992	HepG2	liver:	n/a	chr2:51068958-51068969
20	CEBPB	chr2:51272237-51272566	HepG2	liver:	n/a	chr2:51272397-51272408 chr2:51272396-51272409
21	CEBPB	chr2:51185023-51185436	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
22	CEBPB	chr2:50974968-50975018	HepG2	liver:	n/a	n/a
23	CEBPB	chr2:51084920-51085210	H1-hESC	embryonic stem cell:	n/a	chr2:51085060-51085071
24	CEBPB	chr2:51324687-51324910	HepG2	liver:	n/a	chr2:51324819-51324830
25	CEBPB	chr2:51077765-51078077	A549	lung:	n/a	chr2:51077903-51077914 chr2:51077818-51077830 chr2:51077904-51077913
26	CEBPB	chr2:51179698-51180729	Hela-S3	cervix:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
27	CEBPB	chr2:51180165-51180469	A549	lung:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
28	CEBPB	chr2:51196130-51196480	HepG2	liver:	n/a	n/a
29	CEBPB	chr2:51080924-51081178	H1-hESC	embryonic stem cell:	n/a	chr2:51081037-51081050 chr2:51081039-51081048
30	CEBPB	chr2:51184080-51184410	A549	lung:	n/a	chr2:51184131-51184142
31	CEBPB	chr2:51376877-51377106	A549	lung:	n/a	n/a
32	CEBPB	chr2:51185039-51185390	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
33	CEBPB	chr2:51042035-51042364	HepG2	liver:	n/a	chr2:51042175-51042186
34	CEBPB	chr2:51314497-51314768	A549	lung:	n/a	chr2:51314679-51314692 chr2:51314681-51314692 chr2:51314679-51314692 chr2:51314681-51314692
35	CEBPB	chr2:51077746-51078099	IMR90	lung:	n/a	chr2:51077903-51077914 chr2:51077818-51077830 chr2:51077904-51077913
36	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
37	CEBPB	chr2:51196131-51196377	H1-hESC	embryonic stem cell:	n/a	n/a
38	CEBPB	chr2:51180217-51180418	K562	blood:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
39	CEBPB	chr2:51392842-51393189	H1-hESC	embryonic stem cell:	n/a	n/a
40	CEBPB	chr2:51003545-51003679	IMR90	lung:	n/a	n/a
41	CEBPB	chr2:51179763-51180618	IMR90	lung:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
42	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
43	CEBPB	chr2:51080929-51081152	A549	lung:	n/a	chr2:51081037-51081050 chr2:51081039-51081048
44	CEBPB	chr2:51084911-51085196	IMR90	lung:	n/a	chr2:51085060-51085071
45	CEBPB	chr2:51106584-51106784	HepG2	liver:	n/a	n/a
46	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
47	CEBPB	chr2:51240147-51240542	MCF-7	breast:	n/a	n/a
48	CEBPB	chr2:51184010-51184263	HepG2	liver:	n/a	chr2:51184131-51184142
49	CEBPB	chr2:51229696-51229991	IMR90	lung:	n/a	chr2:51229820-51229831
50	CEBPB	chr2:51077727-51078088	H1-hESC	embryonic stem cell:	n/a	chr2:51077903-51077914 chr2:51077818-51077830 chr2:51077904-51077913

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:50992829-50992879	U87	brain:	n/a
2	chr2:51259703-51259753	Hela-S3	cervix:	n/a
3	chr2:50992829-50992879	U87	brain:	n/a
4	chr2:51259703-51259753	Hela-S3	cervix:	n/a
5	chr2:51259786-51259836	NHBE	bronchial:	n/a
6	chr2:51218880-51218930	HEK293	kidney:	embryo
7	chr2:51260399-51260449	HMEC	breast:	n/a
8	chr2:51260399-51260449	GM12878	blood:	n/a
9	chr2:51255627-51255677	HCT-116	colon:	n/a
10	chr2:51056822-51056872	SK-N-MC	brain:	n/a
11	chr2:51057548-51057598	AG10803	skin:	n/a
12	chr2:51259493-51259543	Hela-S3	cervix:	n/a
13	chr2:51218880-51218930	ProgFib	skin:	n/a
14	chr2:51254102-51254152	GM19239	blood:	n/a
15	chr2:51259552-51259602	A549	lung:	n/a
16	chr2:51065673-51065723	RPTEC	kidney:	n/a
17	chr2:51065673-51065723	HCM	heart:	n/a
18	chr2:51259693-51259743	BJ	skin:	n/a
19	chr2:51228125-51228175	HNPCEpiC	eye:	n/a
20	chr2:51074939-51074989	PrEC	prostate:	n/a
21	chr2:51259697-51259747	GM12878	blood:	n/a
22	chr2:51240310-51240360	NHBE	bronchial:	n/a
23	chr2:51379080-51379130	HCT-116	colon:	n/a
24	chr2:51056822-51056872	A549	lung:	n/a
25	chr2:51254981-51255031	HRCEpiC	kidney:	n/a
26	chr2:51056822-51056872	SAEC	small airway:	n/a
27	chr2:51074881-51074931	GM12878	blood:	n/a
28	chr2:51260739-51260789	PrEC	prostate:	n/a
29	chr2:51378948-51378998	HRPEpiC	eye:	n/a
30	chr2:51057218-51057268	ovcar-3	ovarian:	n/a
31	chr2:51001003-51001053	HCF	heart:	n/a
32	chr2:51260739-51260789	GM19239	blood:	n/a
33	chr2:51057548-51057598	Hepatocyte	liver:	n/a
34	chr2:51255306-51255356	Caco-2	colon:	n/a
35	chr2:51056884-51056934	Hela-S3	cervix:	n/a
36	chr2:51254132-51254182	AG04450	lung:	fetal
37	chr2:51218880-51218930	HCPEpiC	choroid plexus:	n/a
38	chr2:51218880-51218930	NHDF-neo	bronchial:	n/a
39	chr2:50992829-50992879	RPTEC	kidney:	n/a
40	chr2:51259807-51259857	HCM	heart:	n/a
41	chr2:51379080-51379130	MCF10A-Er-Src	breast:	n/a
42	chr2:51254102-51254152	ProgFib	skin:	n/a
43	chr2:51259552-51259602	SK-N-SH_RA	brain:	n/a
44	chr2:51259697-51259747	NHBE	bronchial:	n/a
45	chr2:51056822-51056872	AG09319	gingival:	n/a
46	chr2:51378948-51378998	H1-hESC	embryonic stem cell:	embryo
47	chr2:51231649-51231699	PANC-1	pancreas:	n/a
48	chr2:51254102-51254152	GM12878	blood:	n/a
49	chr2:51254981-51255031	SAEC	small airway:	n/a
50	chr2:51231649-51231699	SKMC	muscle:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:51395839..51397846-chr2:51399820..51401986,2	K562	blood:
2	chr2:51171851..51174700-chr2:51189688..51191274,2	MCF-7	breast:
3	chr2:50985182..50988156-chr2:50995412..50998213,2	K562	blood:
4	chr2:51260931..51263493-chr2:51269854..51271859,2	MCF-7	breast:
5	chr2:51260931..51263493-chr2:51269854..51271859,2	MCF-7	breast:
6	chr2:50985182..50988156-chr2:50995412..50998213,2	K562	blood:
7	chr2:51313706..51316467-chr2:51317325..51319738,2	K562	blood:
8	chr2:51018306..51019906-chr2:51022210..51025087,2	K562	blood:
9	chr2:51281367..51284227-chr2:51284549..51287538,2	K562	blood:
10	chr2:51135133..51137954-chr2:51139685..51141436,2	MCF-7	breast:
11	chr2:50973459..50974271-chr2:52224493..52225477,4	MCF-7	breast:
12	chr2:51084150..51086897-chr2:51088805..51090362,2	K562	blood:
13	chr2:51171851..51174700-chr2:51189688..51191274,2	MCF-7	breast:
14	chr2:50965713..50967269-chr2:50975937..50978033,2	K562	blood:
15	chr2:51084150..51086897-chr2:51088805..51090362,2	K562	blood:
16	chr2:51144781..51146893-chr2:51147491..51149076,2	K562	blood:
17	chr2:51288072..51290967-chr2:232569534..232571521,2	MCF-7	breast:
18	chr2:51135133..51137954-chr2:51139685..51141436,2	MCF-7	breast:
19	chr2:51107834..51110098-chr2:51577616..51579275,2	K562	blood:
20	chr2:50977335..50979735-chr2:50992909..50995322,2	K562	blood:
21	chr2:51313706..51316467-chr2:51317325..51319738,2	K562	blood:
22	chr2:51113708..51115897-chr2:51117205..51120148,2	K562	blood:
23	chr2:50977335..50979735-chr2:50992909..50995322,2	K562	blood:
24	chr2:51113708..51115897-chr2:51117205..51120148,2	K562	blood:
25	chr2:51152622..51154221-chr2:51156441..51158727,2	K562	blood:
26	chr2:51144781..51146893-chr2:51147491..51149076,2	K562	blood:
27	chr2:50965713..50967269-chr2:50975937..50978033,2	K562	blood:
28	chr2:51152622..51154221-chr2:51156441..51158727,2	K562	blood:
29	chr2:51018306..51019906-chr2:51022210..51025087,2	K562	blood:
30	chr2:51395839..51397846-chr2:51399820..51401986,2	K562	blood:
31	chr2:51281367..51284227-chr2:51284549..51287538,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NRXN1-3	chr2:51283579-51283793	l_1833_chr2:51283578-51306188_testes
2	lnc-CHAC2-4	chr2:51259739-51260154	ENSG00000231918.1
3	lnc-NRXN1-3	chr2:51294575-51294743	l_1833_chr2:51283578-51306188_testes
4	lnc-NRXN1-3	chr2:51302314-51302406	NONHSAT070652
5	lnc-NRXN1-3	chr2:51306149-51306209	l_1833_chr2:51283578-51306188_testes
6	lnc-NRXN1-3	chr2:51283633-51283791	NONHSAT070652
7	lnc-NRXN1-3	chr2:51282723-51282956	NONHSAT070652
8	lnc-FSHR-5	chr2:51056580-51056816	NONHSAT070648
9	lnc-CHAC2-4	chr2:51279495-51279592	ENSG00000231918.1
10	lnc-NRXN1-3	chr2:51302313-51302437	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
ENSG00000238165	CpG island
NRXN1	CpG island
ENSG00000216011	CpG island
ENSG00000272385	CpG island
ENSG00000215968	CpG island
ENSG00000231918	CpG island

Extended variants
information (count: 14022 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:14022 , 50 per page) page: 1 2 3 4 5 6 7 ... 281

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144557641	chr2:50965442-50965443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs13006909	chr2:50965462-50965463	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs146629558	chr2:50965465-50965466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10174285	chr2:50965496-50965497	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs528066139	chr2:50965515-50965516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191464702	chr2:50965519-50965520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568019280	chr2:50965569-50965570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535703026	chr2:50965580-50965581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs4971693	chr2:50965589-50965590	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs551053262	chr2:50965592-50965593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1646427	chr2:50965616-50965617	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs367560457	chr2:50965624-50965625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs72887593	chr2:50965634-50965635	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs117270703	chr2:50965659-50965660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148833501	chr2:50965726-50965727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs201336451	chr2:50965766-50965767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553360838	chr2:50965769-50965770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575225248	chr2:50965835-50965836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs117483849	chr2:50966025-50966026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs115683868	chr2:50966069-50966070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531117615	chr2:50966089-50966090	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545620581	chr2:50966127-50966128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563833954	chr2:50966140-50966141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs9677055	chr2:50966158-50966159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1713859	chr2:50966161-50966162	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs546199165	chr2:50966172-50966173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs150957963	chr2:50966173-50966174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs529197022	chr2:50966204-50966205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183577292	chr2:50966205-50966206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140755241	chr2:50966219-50966220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539613043	chr2:50966223-50966224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559142791	chr2:50966253-50966254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570963095	chr2:50966257-50966258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1546667	chr2:50966283-50966284	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs9677069	chr2:50966288-50966289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188912756	chr2:50966293-50966294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574751335	chr2:50966343-50966344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535803917	chr2:50966353-50966354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145861836	chr2:50966354-50966355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575793833	chr2:50966368-50966369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372318154	chr2:50966380-50966381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376238163	chr2:50966408-50966409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9678417	chr2:50966411-50966412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9678418	chr2:50966422-50966423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs368938721	chr2:50966439-50966440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9677804	chr2:50966550-50966551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545990000	chr2:50966564-50966565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562510400	chr2:50966643-50966644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375472942	chr2:50966684-50966685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531332978	chr2:50966705-50966706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:114)

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
Breast cancer	21990379	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
Autism	20841430	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

Chromatin state (count:1629 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50965400-50966200	Enhancers	Brain Germinal Matrix	brain
2	chr2:50966200-50967800	Weak transcription	Brain Germinal Matrix	brain
3	chr2:50967800-50968400	Enhancers	Brain Germinal Matrix	brain
4	chr2:50971800-50972200	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr2:50972200-50975800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:50972200-50978200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:50974200-50974400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:50974200-50974400	Weak transcription	Brain Germinal Matrix	brain
9	chr2:50974400-50974600	Enhancers	Brain Hippocampus Middle	brain
10	chr2:50974400-50975200	Enhancers	HSMMtube	muscle
11	chr2:50974400-50976200	Enhancers	Brain Germinal Matrix	brain
12	chr2:50974400-50978200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:50975000-50976000	Enhancers	Fetal Muscle Leg	muscle
14	chr2:50975000-50976800	Enhancers	Fetal Brain Female	brain
15	chr2:50975200-50975800	Enhancers	Fetal Brain Male	brain
16	chr2:50975200-50977200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr2:50975400-50975600	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr2:50975400-50975800	Enhancers	Brain Hippocampus Middle	brain
19	chr2:50975600-50975800	Enhancers	Fetal Stomach	stomach
20	chr2:50975600-50975800	Enhancers	Psoas Muscle	Psoas
21	chr2:50975600-50976200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
22	chr2:50975800-50976200	Active TSS	Brain Anterior Caudate	brain
23	chr2:50975800-50976200	Active TSS	Brain Hippocampus Middle	brain
24	chr2:50975800-50976200	Active TSS	Brain Substantia Nigra	brain
25	chr2:50975800-50976200	Enhancers	Fetal Kidney	kidney
26	chr2:50975800-50976600	Weak transcription	Fetal Stomach	stomach
27	chr2:50975800-50977000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr2:50975800-50978400	Weak transcription	Fetal Brain Male	brain
29	chr2:50976000-50977200	Enhancers	Brain Cingulate Gyrus	brain
30	chr2:50976000-50978000	Weak transcription	Psoas Muscle	Psoas
31	chr2:50976000-50978600	Weak transcription	Fetal Muscle Leg	muscle
32	chr2:50976200-50976600	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr2:50976200-50976800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:50976200-50977400	Enhancers	Brain Hippocampus Middle	brain
35	chr2:50976200-50978200	Weak transcription	Brain Germinal Matrix	brain
36	chr2:50976200-50982800	Weak transcription	Brain Substantia Nigra	brain
37	chr2:50976400-50976600	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr2:50976600-50979800	Enhancers	Fetal Stomach	stomach
39	chr2:50976600-50983200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr2:50976800-50977400	Weak transcription	Fetal Brain Female	brain
41	chr2:50976800-50978200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:50976800-50978200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr2:50977000-50982200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr2:50977200-50978400	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr2:50977400-50983600	Weak transcription	Brain Hippocampus Middle	brain
46	chr2:50977400-50984400	Enhancers	Fetal Brain Female	brain
47	chr2:50978200-50978800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:50978200-50979200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:50978200-50979200	Enhancers	Colon Smooth Muscle	Colon
50	chr2:50978200-50979400	Enhancers	Duodenum Smooth Muscle	Duodenum

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