Variant report

Variant	nsv874057
Chromosome Location	chr2:51294096-51606559
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	BACH1	chr2:51330505-51330576	H1-hESC	embryonic stem cell:	n/a	n/a
4	BATF	chr2:51439527-51439799	GM12878	blood:	n/a	chr2:51439631-51439642
5	BHLHE40	chr2:51330297-51330702	HepG2	liver:	n/a	n/a
6	BHLHE40	chr2:51524627-51524983	GM12878	blood:	n/a	n/a
7	BHLHE40	chr2:51439638-51439779	GM12878	blood:	n/a	n/a
8	BRCA1	chr2:51330435-51330474	H1-hESC	embryonic stem cell:	n/a	n/a
9	CCNT2	chr2:51398751-51398851	K562	blood:	n/a	n/a
10	CEBPB	chr2:51430857-51430966	H1-hESC	embryonic stem cell:	n/a	chr2:51430918-51430929
11	CEBPB	chr2:51592726-51593002	A549	lung:	n/a	n/a
12	CEBPB	chr2:51485456-51485816	HepG2	liver:	n/a	chr2:51485628-51485645 chr2:51485631-51485642
13	CEBPB	chr2:51532958-51533202	HepG2	liver:	n/a	chr2:51533077-51533088
14	CEBPB	chr2:51515830-51516103	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr2:51392868-51393388	IMR90	lung:	n/a	n/a
16	CEBPB	chr2:51330496-51330704	HepG2	liver:	n/a	n/a
17	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
18	CEBPB	chr2:51515920-51516087	HepG2	liver:	n/a	n/a
19	CEBPB	chr2:51547030-51547286	IMR90	lung:	n/a	chr2:51547159-51547170
20	CEBPB	chr2:51461597-51461861	A549	lung:	n/a	chr2:51461726-51461737
21	CEBPB	chr2:51485456-51485732	ECC-1	luminal epithelium:	n/a	chr2:51485628-51485645 chr2:51485631-51485642
22	CEBPB	chr2:51592693-51592970	IMR90	lung:	n/a	n/a
23	CEBPB	chr2:51573328-51573689	H1-hESC	embryonic stem cell:	n/a	n/a
24	CEBPB	chr2:51574419-51574660	K562	blood:	n/a	n/a
25	CEBPB	chr2:51461631-51461892	HepG2	liver:	n/a	chr2:51461726-51461737
26	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
27	CEBPB	chr2:51325442-51325765	IMR90	lung:	n/a	chr2:51325594-51325607
28	CEBPB	chr2:51485499-51485822	A549	lung:	n/a	chr2:51485628-51485645 chr2:51485631-51485642
29	CEBPB	chr2:51392842-51393189	H1-hESC	embryonic stem cell:	n/a	n/a
30	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
31	CEBPB	chr2:51447009-51447209	H1-hESC	embryonic stem cell:	n/a	n/a
32	CEBPB	chr2:51605097-51605135	HepG2	liver:	n/a	chr2:51605108-51605119
33	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
34	CEBPB	chr2:51491236-51491509	H1-hESC	embryonic stem cell:	n/a	n/a
35	CEBPB	chr2:51485458-51485815	A549	lung:	n/a	chr2:51485628-51485645 chr2:51485631-51485642
36	CEBPB	chr2:51325500-51325735	H1-hESC	embryonic stem cell:	n/a	chr2:51325594-51325607
37	CEBPB	chr2:51430799-51430988	HepG2	liver:	n/a	chr2:51430918-51430929
38	CEBPB	chr2:51485451-51485812	A549	lung:	n/a	chr2:51485628-51485645 chr2:51485631-51485642
39	CEBPB	chr2:51328029-51328351	H1-hESC	embryonic stem cell:	n/a	n/a
40	CEBPB	chr2:51496296-51496602	HepG2	liver:	n/a	n/a
41	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
42	CEBPB	chr2:51499694-51499837	H1-hESC	embryonic stem cell:	n/a	n/a
43	CEBPB	chr2:51314497-51314768	A549	lung:	n/a	chr2:51314679-51314692 chr2:51314681-51314692 chr2:51314679-51314692 chr2:51314681-51314692
44	CEBPB	chr2:51556715-51557086	IMR90	lung:	n/a	n/a
45	CEBPB	chr2:51445290-51445497	H1-hESC	embryonic stem cell:	n/a	chr2:51445408-51445419 chr2:51445407-51445420
46	CEBPB	chr2:51577216-51577767	IMR90	lung:	n/a	n/a
47	CEBPB	chr2:51430897-51430932	A549	lung:	n/a	chr2:51430918-51430929
48	CEBPB	chr2:51485456-51485813	K562	blood:	n/a	chr2:51485628-51485645 chr2:51485631-51485642
49	CEBPB	chr2:51565289-51565476	HepG2	liver:	n/a	chr2:51565342-51565353
50	CEBPB	chr2:51445233-51445599	IMR90	lung:	n/a	chr2:51445408-51445419 chr2:51445407-51445420

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:51379080-51379130	BE2_C	brain:	n/a
2	chr2:51379080-51379130	HMEC	breast:	n/a
3	chr2:51379080-51379130	NH-A	brain:	n/a
4	chr2:51378948-51378998	HRCEpiC	kidney:	n/a
5	chr2:51379080-51379130	AG10803	skin:	n/a
6	chr2:51378948-51378998	AG04450	lung:	fetal
7	chr2:51379080-51379130	MCF-7	breast:	n/a
8	chr2:51446925-51446975	HRE	kidney:	n/a
9	chr2:51446925-51446975	PrEC	prostate:	n/a
10	chr2:51379080-51379130	NT2-D1	testis:	n/a
11	chr2:51378948-51378998	U87	brain:	n/a
12	chr2:51379080-51379130	GM19239	blood:	n/a
13	chr2:51378948-51378998	SK-N-SH	brain:	n/a
14	chr2:51379080-51379130	NHDF-neo	bronchial:	n/a
15	chr2:51378948-51378998	PFSK-1	brain:	n/a
16	chr2:51379080-51379130	Jurkat	blood:	n/a
17	chr2:51379080-51379130	HAEpiC	amniotic membrane:	n/a
18	chr2:51446925-51446975	A549	lung:	n/a
19	chr2:51379080-51379130	Caco-2	colon:	n/a
20	chr2:51378948-51378998	HIPEpiC	eye:	n/a
21	chr2:51446925-51446975	GM12892	blood:	n/a
22	chr2:51446925-51446975	PANC-1	pancreas:	n/a
23	chr2:51378948-51378998	GM12891	blood:	n/a
24	chr2:51379080-51379130	ECC-1	luminal epithelium:	n/a
25	chr2:51379080-51379130	Hela-S3	cervix:	n/a
26	chr2:51378948-51378998	HEK293	kidney:	embryo
27	chr2:51378948-51378998	NHDF-neo	bronchial:	n/a
28	chr2:51379080-51379130	GM12891	blood:	n/a
29	chr2:51446925-51446975	H1-hESC	embryonic stem cell:	embryo
30	chr2:51378948-51378998	AG09309	skin:	n/a
31	chr2:51446925-51446975	GM12891	blood:	n/a
32	chr2:51446925-51446975	HEK293	kidney:	embryo
33	chr2:51379080-51379130	HRCEpiC	kidney:	n/a
34	chr2:51378948-51378998	GM06990	blood:	n/a
35	chr2:51378948-51378998	Hepatocyte	liver:	n/a
36	chr2:51378948-51378998	NH-A	brain:	n/a
37	chr2:51379080-51379130	HRPEpiC	eye:	n/a
38	chr2:51446925-51446975	K562	blood:	n/a
39	chr2:51378948-51378998	HCPEpiC	choroid plexus:	n/a
40	chr2:51446925-51446975	HEEpiC	esophagus:	n/a
41	chr2:51446925-51446975	HRCEpiC	kidney:	n/a
42	chr2:51379080-51379130	HUVEC	blood vessel:	n/a
43	chr2:51446925-51446975	HMEC	breast:	n/a
44	chr2:51446925-51446975	HCM	heart:	n/a
45	chr2:51379080-51379130	HL-60	blood:	n/a
46	chr2:51378948-51378998	HCF	heart:	n/a
47	chr2:51379080-51379130	ovcar-3	ovarian:	n/a
48	chr2:51446925-51446975	RPTEC	kidney:	n/a
49	chr2:51446925-51446975	HPAEpiC	pulmonary alveolar:	n/a
50	chr2:51379080-51379130	IMR90	lung:	fetal

No.	Distal block	Cell Line	Cell type
1	chr2:51450784..51453564-chr2:51456226..51459190,2	MCF-7	breast:
2	chr2:51395839..51397846-chr2:51399820..51401986,2	K562	blood:
3	chr2:51566884..51569185-chr2:51570886..51573371,2	K562	blood:
4	chr2:51554002..51556424-chr2:51560919..51562851,2	K562	blood:
5	chr2:51437981..51439669-chr2:51441644..51443887,2	K562	blood:
6	chr2:51313706..51316467-chr2:51317325..51319738,2	K562	blood:
7	chr2:51395839..51397846-chr2:51399820..51401986,2	K562	blood:
8	chr2:51566884..51569185-chr2:51570886..51573371,2	K562	blood:
9	chr2:51437981..51439669-chr2:51441644..51443887,2	K562	blood:
10	chr2:51313706..51316467-chr2:51317325..51319738,2	K562	blood:
11	chr2:51450784..51453564-chr2:51456226..51459190,2	MCF-7	breast:
12	chr2:51107834..51110098-chr2:51577616..51579275,2	K562	blood:
13	chr2:51554002..51556424-chr2:51560919..51562851,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NRXN1-2	chr2:51560653-51560787	XLOC_002094
2	lnc-NRXN1-3	chr2:51306149-51306209	l_1833_chr2:51283578-51306188_testes
3	lnc-NRXN1-2	chr2:51571329-51571385	XLOC_002094
4	lnc-NRXN1-2	chr2:51559800-51560035	XLOC_002094
5	lnc-NRXN1-2	chr2:51559800-51560035	XLOC_002094
6	lnc-NRXN1-3	chr2:51302314-51302406	NONHSAT070652
7	lnc-NRXN1-1	chr2:51448809-51448902	ENSG00000237374
8	lnc-NRXN1-1	chr2:51430129-51430286	ENSG00000237374
9	lnc-NRXN1-2	chr2:51569718-51569850	XLOC_002094
10	lnc-NRXN1-2	chr2:51560653-51560803	XLOC_002094
11	lnc-NRXN1-3	chr2:51294575-51294743	l_1833_chr2:51283578-51306188_testes
12	lnc-NRXN1-1	chr2:51429219-51429452	ENSG00000237374
13	lnc-NRXN1-3	chr2:51302313-51302437	l_1833_chr2:51283578-51306188_testes
14	lnc-NRXN1-4	chr2:51423222-51423493	l_1834_chr2:51413303-51423493_76bGuttman_hLF
15	lnc-NRXN1-4	chr2:51413304-51413539	l_1834_chr2:51413303-51423493_76bGuttman_hLF
16	lnc-CHAC2-4	chr2:51555527-51555627	ENSG00000231918.1
17	lnc-NRXN1-1	chr2:51430129-51430299	ENSG00000237374
18	lnc-NRXN1-2	chr2:51569718-51569990	XLOC_002094
19	lnc-CHAC2-4	chr2:51605233-51605311	ENSG00000231918.1
20	lnc-NRXN1-1	chr2:51429219-51429452	ENSG00000237374
21	lnc-NRXN1-2	chr2:51560653-51560787	XLOC_002094
22	lnc-NRXN1-2	chr2:51569718-51569990	XLOC_002094
23	lnc-NRXN1-4	chr2:51414157-51414291	l_1834_chr2:51413303-51423493_76bGuttman_hLF
24	lnc-NRXN1-1	chr2:51448809-51448902	ENSG00000237374

Variant related genes	Relation type
ENSG00000237374	TF binding region
ENSG00000237374	CpG island
PDCD4	miRNA target sites
PDCD10	miRNA target sites

Extended variants
information (count: 6416 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:6416 , 50 per page) page: 1 2 3 4 5 6 7 ... 129

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147030099	chr2:51294607-51294608	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs181089779	chr2:51294636-51294637	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs74856626	chr2:51294663-51294664	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs13021621	chr2:51294688-51294689	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs571443068	chr2:51294696-51294697	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs375100037	chr2:51294730-51294731	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs13022010	chr2:51294736-51294737	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs564668050	chr2:51295001-51295002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138436090	chr2:51295040-51295041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115923823	chr2:51295055-51295056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370406208	chr2:51295056-51295057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560522793	chr2:51295070-51295071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527957395	chr2:51295096-51295097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143910055	chr2:51295097-51295098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561248831	chr2:51295121-51295122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs183526422	chr2:51295215-51295216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186376207	chr2:51295235-51295236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190932899	chr2:51295241-51295242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147302119	chr2:51295249-51295250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138864237	chr2:51295254-51295255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565761238	chr2:51295275-51295276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536514131	chr2:51295290-51295291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554478552	chr2:51295313-51295314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182358341	chr2:51295355-51295356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs117316953	chr2:51295360-51295361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112336645	chr2:51295500-51295501	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs576825837	chr2:51295547-51295548	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs540790674	chr2:51295552-51295553	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs554305362	chr2:51295563-51295564	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs75124572	chr2:51295585-51295586	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs543320541	chr2:51295624-51295625	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs561612185	chr2:51295627-51295628	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs531729906	chr2:51295628-51295629	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs149436893	chr2:51295635-51295636	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs543800940	chr2:51295658-51295659	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs185241619	chr2:51295667-51295668	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs565141448	chr2:51295674-51295675	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs532612723	chr2:51295765-51295766	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs12328195	chr2:51295826-51295827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs554262483	chr2:51295849-51295850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs113945207	chr2:51295861-51295862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs529868499	chr2:51295871-51295872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs187715744	chr2:51295873-51295874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs144821300	chr2:51295907-51295908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs371602369	chr2:51295944-51295945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs569573636	chr2:51295949-51295950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536949224	chr2:51296000-51296001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs148582095	chr2:51296012-51296013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192714327	chr2:51296044-51296045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs116680599	chr2:51296045-51296046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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	17989066	CNVD
Bipolar disorder	19114987	CNVD
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:374 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:51295000-51303600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:51295400-51295600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:51295400-51295800	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr2:51295400-51299400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:51295600-51296600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:51295800-51297000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:51296600-51298200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:51297000-51297200	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr2:51297000-51298400	Enhancers	Primary hematopoietic stem cells	blood
10	chr2:51297200-51298800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr2:51297600-51298400	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr2:51298000-51298800	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr2:51298200-51298600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:51298600-51299400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr2:51299800-51300000	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr2:51299800-51300400	Enhancers	Liver	Liver
17	chr2:51300200-51300400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:51300400-51301800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:51301600-51301800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr2:51301600-51304000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr2:51301800-51302600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr2:51301800-51304400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:51302400-51303400	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr2:51302600-51303000	Enhancers	H1 Cell Line	embryonic stem cell
25	chr2:51302600-51303000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr2:51302600-51303400	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr2:51302600-51303400	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr2:51303000-51303200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr2:51303200-51303600	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr2:51303600-51304400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:51304400-51304600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr2:51311000-51311600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr2:51311600-51313400	Enhancers	Placenta Amnion	Placenta Amnion
34	chr2:51312800-51313000	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr2:51313600-51318200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr2:51318200-51318600	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr2:51320200-51320800	Active TSS	Stomach Smooth Muscle	stomach
38	chr2:51320600-51321000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:51320800-51321000	Enhancers	Psoas Muscle	Psoas
40	chr2:51321000-51321200	Weak transcription	Psoas Muscle	Psoas
41	chr2:51321000-51325800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:51323000-51323600	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr2:51325800-51326400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:51326400-51330000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr2:51328200-51328400	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr2:51328200-51328400	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr2:51328200-51328600	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr2:51328600-51329800	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr2:51328600-51330200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr2:51329000-51330400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links