Variant report

Variant	nsv533262
Chromosome Location	chr2:51142849-51510961
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	chr2:51330505-51330576	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	BATF	chr2:51439527-51439799	GM12878	blood:	n/a	chr2:51439631-51439642
9	BHLHE40	chr2:51439638-51439779	GM12878	blood:	n/a	n/a
10	BHLHE40	chr2:51330297-51330702	HepG2	liver:	n/a	n/a
11	BRCA1	chr2:51214813-51214934	Hela-S3	cervix:	n/a	n/a
12	BRCA1	chr2:51179768-51180665	Hela-S3	cervix:	n/a	n/a
13	BRCA1	chr2:51330435-51330474	H1-hESC	embryonic stem cell:	n/a	n/a
14	BRCA1	chr2:51259605-51259656	H1-hESC	embryonic stem cell:	n/a	n/a
15	BRCA1	chr2:51185262-51185455	H1-hESC	embryonic stem cell:	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	chr2:51180120-51180462	HepG2	liver:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
19	CEBPB	chr2:51272267-51272564	A549	lung:	n/a	chr2:51272397-51272408 chr2:51272396-51272409
20	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
21	CEBPB	chr2:51163450-51163794	HepG2	liver:	n/a	chr2:51163617-51163628 chr2:51163618-51163627 chr2:51163616-51163629 chr2:51163616-51163627
22	CEBPB	chr2:51255964-51256336	MCF-7	breast:	n/a	chr2:51256172-51256183
23	CEBPB	chr2:51255998-51256347	A549	lung:	n/a	chr2:51256172-51256183
24	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
25	CEBPB	chr2:51485548-51485789	ECC-1	luminal epithelium:	n/a	chr2:51485628-51485645 chr2:51485631-51485642
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	chr2:51485458-51485815	A549	lung:	n/a	chr2:51485628-51485645 chr2:51485631-51485642
28	CEBPB	chr2:51256026-51256305	HepG2	liver:	n/a	chr2:51256172-51256183
29	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
30	CEBPB	chr2:51485451-51485812	A549	lung:	n/a	chr2:51485628-51485645 chr2:51485631-51485642
31	CEBPB	chr2:51163520-51163763	A549	lung:	n/a	chr2:51163617-51163628 chr2:51163618-51163627 chr2:51163616-51163629 chr2:51163616-51163627
32	CEBPB	chr2:51491236-51491509	H1-hESC	embryonic stem cell:	n/a	n/a
33	CEBPB	chr2:51179690-51180699	HCT-116	colon:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
34	CEBPB	chr2:51236313-51236416	A549	lung:	n/a	n/a
35	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
36	CEBPB	chr2:51325500-51325735	H1-hESC	embryonic stem cell:	n/a	chr2:51325594-51325607
37	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
38	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
39	CEBPB	chr2:51461597-51461861	A549	lung:	n/a	chr2:51461726-51461737
40	CEBPB	chr2:51240147-51240542	MCF-7	breast:	n/a	n/a
41	CEBPB	chr2:51485449-51485821	Hela-S3	cervix:	n/a	chr2:51485628-51485645 chr2:51485631-51485642
42	CEBPB	chr2:51485499-51485822	A549	lung:	n/a	chr2:51485628-51485645 chr2:51485631-51485642
43	CEBPB	chr2:51485456-51485732	ECC-1	luminal epithelium:	n/a	chr2:51485628-51485645 chr2:51485631-51485642
44	CEBPB	chr2:51445272-51445575	A549	lung:	n/a	chr2:51445408-51445419 chr2:51445407-51445420
45	CEBPB	chr2:51229696-51229991	IMR90	lung:	n/a	chr2:51229820-51229831
46	CEBPB	chr2:51229679-51229969	HepG2	liver:	n/a	chr2:51229820-51229831
47	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
48	CEBPB	chr2:51330315-51330732	IMR90	lung:	n/a	n/a
49	CEBPB	chr2:51485458-51485831	H1-hESC	embryonic stem cell:	n/a	chr2:51485628-51485645 chr2:51485631-51485642
50	CEBPB	chr2:51196168-51196459	IMR90	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:51379080-51379130	HMEC	breast:	n/a
2	chr2:51252301-51252351	LNCaP	prostate:	n/a
3	chr2:51260003-51260053	U87	brain:	n/a
4	chr2:51379080-51379130	HMEC	breast:	n/a
5	chr2:51252301-51252351	LNCaP	prostate:	n/a
6	chr2:51260003-51260053	U87	brain:	n/a
7	chr2:51254981-51255031	AoSMC	blood vessel:	n/a
8	chr2:51254021-51254071	U87	brain:	n/a
9	chr2:51260739-51260789	Hela-S3	cervix:	n/a
10	chr2:51254823-51254873	HCF	heart:	n/a
11	chr2:51255324-51255374	H1-hESC	embryonic stem cell:	embryo
12	chr2:51260739-51260789	NT2-D1	testis:	n/a
13	chr2:51260739-51260789	HNPCEpiC	eye:	n/a
14	chr2:51254981-51255031	H1-hESC	embryonic stem cell:	embryo
15	chr2:51260399-51260449	NH-A	brain:	n/a
16	chr2:51255306-51255356	HPAEpiC	pulmonary alveolar:	n/a
17	chr2:51259693-51259743	HCT-116	colon:	n/a
18	chr2:51379080-51379130	HCT-116	colon:	n/a
19	chr2:51254132-51254182	CMK	blood:	n/a
20	chr2:51259786-51259836	NB4	blood:	n/a
21	chr2:51379080-51379130	LNCaP	prostate:	n/a
22	chr2:51252301-51252351	H1-hESC	embryonic stem cell:	embryo
23	chr2:51259493-51259543	IMR90	lung:	fetal
24	chr2:51252301-51252351	GM12891	blood:	n/a
25	chr2:51446925-51446975	HRPEpiC	eye:	n/a
26	chr2:51446925-51446975	ovcar-3	ovarian:	n/a
27	chr2:51378948-51378998	HCF	heart:	n/a
28	chr2:51259807-51259857	NHDF-neo	bronchial:	n/a
29	chr2:51446925-51446975	HPAEpiC	pulmonary alveolar:	n/a
30	chr2:51254102-51254152	HEK293	kidney:	embryo
31	chr2:51254823-51254873	NT2-D1	testis:	n/a
32	chr2:51259693-51259743	RPTEC	kidney:	n/a
33	chr2:51259703-51259753	AoSMC	blood vessel:	n/a
34	chr2:51259552-51259602	HepG2	liver:	n/a
35	chr2:51259807-51259857	AG09309	skin:	n/a
36	chr2:51252301-51252351	SK-N-SH_RA	brain:	n/a
37	chr2:51255324-51255374	NH-A	brain:	n/a
38	chr2:51446925-51446975	NHBE	bronchial:	n/a
39	chr2:51254132-51254182	HepG2	liver:	n/a
40	chr2:51259807-51259857	HNPCEpiC	eye:	n/a
41	chr2:51259693-51259743	HRE	kidney:	n/a
42	chr2:51228125-51228175	HL-60	blood:	n/a
43	chr2:51254170-51254220	MCF-7	breast:	n/a
44	chr2:51259786-51259836	HCT-116	colon:	n/a
45	chr2:51255306-51255356	GM06990	blood:	n/a
46	chr2:51259807-51259857	HCM	heart:	n/a
47	chr2:51254981-51255031	HL-60	blood:	n/a
48	chr2:51260399-51260449	MCF10A-Er-Src	breast:	n/a
49	chr2:51259703-51259753	BE2_C	brain:	n/a
50	chr2:51255324-51255374	AG10803	skin:	n/a

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

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

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

Extended variants
information (count: 9926 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:9926 , 50 per page) page: 1 2 3 4 5 6 7 ... 199

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554719505	chr2:51142851-51142852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs562290136	chr2:51142853-51142854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537338123	chr2:51142862-51142863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371833123	chr2:51142918-51142919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs180998833	chr2:51142947-51142948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs185228423	chr2:51142997-51142998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541423555	chr2:51143034-51143035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553164756	chr2:51143066-51143067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188176636	chr2:51143076-51143077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542376928	chr2:51143078-51143079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181330866	chr2:51143180-51143181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530775585	chr2:51143189-51143190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545735329	chr2:51143195-51143196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186339878	chr2:51143202-51143203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191588129	chr2:51143218-51143219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546594350	chr2:51143309-51143310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567745251	chr2:51143310-51143311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528937949	chr2:51143315-51143316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs550299022	chr2:51143336-51143337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200066779	chr2:51143344-51143345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569912038	chr2:51143383-51143384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62142977	chr2:51143388-51143389	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs552552118	chr2:51143398-51143399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571139291	chr2:51143402-51143403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs535035590	chr2:51143417-51143418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553316979	chr2:51143426-51143427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564131071	chr2:51143431-51143432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148909552	chr2:51143529-51143530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183650788	chr2:51143575-51143576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186420497	chr2:51143594-51143595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs202151474	chr2:51143604-51143605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368671977	chr2:51143605-51143606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs80145188	chr2:51143609-51143610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184439125	chr2:51143610-51143611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189031687	chr2:51143612-51143613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139599557	chr2:51143628-51143629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs114921747	chr2:51143635-51143636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575473616	chr2:51143638-51143639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs377438386	chr2:51143668-51143669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545996008	chr2:51143708-51143709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564199568	chr2:51143753-51143754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560751087	chr2:51143779-51143780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190819193	chr2:51143826-51143827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540190473	chr2:51143843-51143844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114958148	chr2:51143856-51143857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1008625	chr2:51143859-51143860	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs550214879	chr2:51143895-51143896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563221690	chr2:51143946-51143947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182281733	chr2:51143960-51143961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530977776	chr2:51143973-51143974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
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
Non-syndromic sensorineural hearing loss	15273396	CNVD

Chromatin state (count:1207 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:51137200-51151400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr2:51138400-51147800	Weak transcription	Fetal Brain Female	brain
3	chr2:51144600-51147200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:51147200-51147400	Enhancers	Brain Germinal Matrix	brain
5	chr2:51147200-51149000	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr2:51147400-51149800	Weak transcription	Brain Germinal Matrix	brain
7	chr2:51147800-51148200	Enhancers	Fetal Brain Female	brain
8	chr2:51148400-51148600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:51148600-51149800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr2:51149000-51149400	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr2:51149400-51149600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr2:51149600-51150000	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr2:51149600-51150400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:51149800-51150000	Enhancers	Aorta	Aorta
15	chr2:51149800-51150200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:51149800-51150200	Enhancers	Brain Germinal Matrix	brain
17	chr2:51149800-51150400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:51150000-51150200	Enhancers	Brain Anterior Caudate	brain
19	chr2:51150000-51150200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr2:51150200-51150400	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr2:51150200-51151200	Weak transcription	Brain Germinal Matrix	brain
22	chr2:51150200-51155200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:51150400-51154800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:51150400-51155000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:51150400-51155400	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr2:51150400-51156800	Weak transcription	Brain Anterior Caudate	brain
27	chr2:51151200-51151600	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr2:51151200-51151800	Enhancers	Brain Germinal Matrix	brain
29	chr2:51151400-51151800	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr2:51151400-51151800	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr2:51151800-51155000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr2:51151800-51155800	Weak transcription	Brain Germinal Matrix	brain
33	chr2:51151800-51156600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr2:51153000-51153400	Enhancers	Brain Substantia Nigra	brain
35	chr2:51153400-51156600	Weak transcription	Brain Substantia Nigra	brain
36	chr2:51154800-51155200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:51155000-51155200	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr2:51155000-51155400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr2:51155200-51155600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr2:51155200-51155600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:51155400-51155600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:51155400-51156000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr2:51155600-51156000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:51155600-51156600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:51155600-51158400	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr2:51155800-51156000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr2:51155800-51156800	Enhancers	Fetal Brain Female	brain
48	chr2:51155800-51157400	Enhancers	Brain Germinal Matrix	brain
49	chr2:51156000-51156600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr2:51156000-51156600	Active TSS	Pancreatic Islets	Pancreatic Islet

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links