Variant report

Variant	nsv1006515
Chromosome Location	chr2:51135645-51358191
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	chr2:51330505-51330576	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr2:51240144-51240458	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr2:51246247-51246255	H1-hESC	embryonic stem cell:	n/a	n/a
8	BHLHE40	chr2:51330297-51330702	HepG2	liver:	n/a	n/a
9	BRCA1	chr2:51259605-51259656	H1-hESC	embryonic stem cell:	n/a	n/a
10	BRCA1	chr2:51179768-51180665	Hela-S3	cervix:	n/a	n/a
11	BRCA1	chr2:51214813-51214934	Hela-S3	cervix:	n/a	n/a
12	BRCA1	chr2:51330435-51330474	H1-hESC	embryonic stem cell:	n/a	n/a
13	BRCA1	chr2:51185262-51185455	H1-hESC	embryonic stem cell:	n/a	n/a
14	CBX3	chr2:51240017-51240569	HCT-116	colon:	n/a	n/a
15	CEBPB	chr2:51179763-51180618	IMR90	lung:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
16	CEBPB	chr2:51330315-51330732	IMR90	lung:	n/a	n/a
17	CEBPB	chr2:51196130-51196480	HepG2	liver:	n/a	n/a
18	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
19	CEBPB	chr2:51255896-51256399	A549	lung:	n/a	chr2:51256172-51256183
20	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
21	CEBPB	chr2:51272267-51272564	A549	lung:	n/a	chr2:51272397-51272408 chr2:51272396-51272409
22	CEBPB	chr2:51256004-51256330	K562	blood:	n/a	chr2:51256172-51256183
23	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
24	CEBPB	chr2:51324687-51324910	HepG2	liver:	n/a	chr2:51324819-51324830
25	CEBPB	chr2:51314497-51314768	A549	lung:	n/a	chr2:51314679-51314692 chr2:51314681-51314692 chr2:51314679-51314692 chr2:51314681-51314692
26	CEBPB	chr2:51196131-51196377	H1-hESC	embryonic stem cell:	n/a	n/a
27	CEBPB	chr2:51255989-51256366	IMR90	lung:	n/a	chr2:51256172-51256183
28	CEBPB	chr2:51185077-51185269	HepG2	liver:	n/a	chr2:51185199-51185212 chr2:51185201-51185210 chr2:51185199-51185210 chr2:51185201-51185210 chr2:51185201-51185210 chr2:51185201-51185210
29	CEBPB	chr2:51272237-51272566	HepG2	liver:	n/a	chr2:51272397-51272408 chr2:51272396-51272409
30	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
31	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
32	CEBPB	chr2:51179690-51180699	HCT-116	colon:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
33	CEBPB	chr2:51180127-51180593	ECC-1	luminal epithelium:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
34	CEBPB	chr2:51256005-51256373	Hela-S3	cervix:	n/a	chr2:51256172-51256183
35	CEBPB	chr2:51256083-51256253	HepG2	liver:	n/a	chr2:51256172-51256183
36	CEBPB	chr2:51163520-51163763	A549	lung:	n/a	chr2:51163617-51163628 chr2:51163618-51163627 chr2:51163616-51163629 chr2:51163616-51163627
37	CEBPB	chr2:51229696-51229991	IMR90	lung:	n/a	chr2:51229820-51229831
38	CEBPB	chr2:51196305-51196335	K562	blood:	n/a	n/a
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	chr2:51255980-51256366	H1-hESC	embryonic stem cell:	n/a	chr2:51256172-51256183
41	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
42	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
43	CEBPB	chr2:51184080-51184410	A549	lung:	n/a	chr2:51184131-51184142
44	CEBPB	chr2:51255984-51256364	HepG2	liver:	n/a	chr2:51256172-51256183
45	CEBPB	chr2:51229679-51229969	HepG2	liver:	n/a	chr2:51229820-51229831
46	CEBPB	chr2:51255998-51256347	A549	lung:	n/a	chr2:51256172-51256183
47	CEBPB	chr2:51325442-51325765	IMR90	lung:	n/a	chr2:51325594-51325607
48	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
49	CEBPB	chr2:51185053-51185350	ECC-1	luminal epithelium:	n/a	chr2:51185199-51185212 chr2:51185201-51185210 chr2:51185199-51185210 chr2:51185201-51185210 chr2:51185296-51185308 chr2:51185201-51185210 chr2:51185201-51185210
50	CEBPB	chr2:51330496-51330704	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:51254170-51254220	HRCEpiC	kidney:	n/a
2	chr2:51254823-51254873	HEK293	kidney:	embryo
3	chr2:51254170-51254220	HRCEpiC	kidney:	n/a
4	chr2:51254823-51254873	HEK293	kidney:	embryo
5	chr2:51254170-51254220	SKMC	muscle:	n/a
6	chr2:51254823-51254873	SK-N-MC	brain:	n/a
7	chr2:51259493-51259543	ECC-1	luminal epithelium:	n/a
8	chr2:51259703-51259753	HRE	kidney:	n/a
9	chr2:51259693-51259743	GM12892	blood:	n/a
10	chr2:51254102-51254152	HEK293	kidney:	embryo
11	chr2:51260003-51260053	PrEC	prostate:	n/a
12	chr2:51231649-51231699	HRE	kidney:	n/a
13	chr2:51260399-51260449	GM19239	blood:	n/a
14	chr2:51254823-51254873	NT2-D1	testis:	n/a
15	chr2:51259807-51259857	SK-N-SH	brain:	n/a
16	chr2:51259703-51259753	HL-60	blood:	n/a
17	chr2:51259552-51259602	K562	blood:	n/a
18	chr2:51231649-51231699	T-47D	breast:	n/a
19	chr2:51254823-51254873	T-47D	breast:	n/a
20	chr2:51254102-51254152	NHDF-neo	bronchial:	n/a
21	chr2:51254132-51254182	AG04450	lung:	fetal
22	chr2:51252301-51252351	HCF	heart:	n/a
23	chr2:51254981-51255031	A549	lung:	n/a
24	chr2:51254823-51254873	PFSK-1	brain:	n/a
25	chr2:51259786-51259836	SK-N-SH	brain:	n/a
26	chr2:51259552-51259602	AG10803	skin:	n/a
27	chr2:51254981-51255031	PANC-1	pancreas:	n/a
28	chr2:51240310-51240360	HEK293	kidney:	embryo
29	chr2:51259807-51259857	MCF10A-Er-Src	breast:	n/a
30	chr2:51260003-51260053	HRPEpiC	eye:	n/a
31	chr2:51254021-51254071	RPTEC	kidney:	n/a
32	chr2:51240310-51240360	GM06990	blood:	n/a
33	chr2:51255324-51255374	T-47D	breast:	n/a
34	chr2:51252301-51252351	HCT-116	colon:	n/a
35	chr2:51255306-51255356	NB4	blood:	n/a
36	chr2:51259552-51259602	HRCEpiC	kidney:	n/a
37	chr2:51260399-51260449	GM12892	blood:	n/a
38	chr2:51231649-51231699	GM12892	blood:	n/a
39	chr2:51252301-51252351	HRPEpiC	eye:	n/a
40	chr2:51259552-51259602	HRE	kidney:	n/a
41	chr2:51254132-51254182	PrEC	prostate:	n/a
42	chr2:51231649-51231699	ECC-1	luminal epithelium:	n/a
43	chr2:51254981-51255031	PrEC	prostate:	n/a
44	chr2:51259703-51259753	HUVEC	blood vessel:	n/a
45	chr2:51259693-51259743	SKMC	muscle:	n/a
46	chr2:51254170-51254220	HRPEpiC	eye:	n/a
47	chr2:51259552-51259602	Hela-S3	cervix:	n/a
48	chr2:51231649-51231699	HL-60	blood:	n/a
49	chr2:51260739-51260789	HEK293	kidney:	embryo
50	chr2:51218880-51218930	Hepatocyte	liver:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:51135133..51137954-chr2:51139685..51141436,2	MCF-7	breast:
2	chr2:51281367..51284227-chr2:51284549..51287538,2	K562	blood:
3	chr2:51260931..51263493-chr2:51269854..51271859,2	MCF-7	breast:
4	chr2:51171851..51174700-chr2:51189688..51191274,2	MCF-7	breast:
5	chr2:51313706..51316467-chr2:51317325..51319738,2	K562	blood:
6	chr2:51313706..51316467-chr2:51317325..51319738,2	K562	blood:
7	chr2:51135133..51137954-chr2:51139685..51141436,2	MCF-7	breast:
8	chr2:51144781..51146893-chr2:51147491..51149076,2	K562	blood:
9	chr2:51288072..51290967-chr2:232569534..232571521,2	MCF-7	breast:
10	chr2:51171851..51174700-chr2:51189688..51191274,2	MCF-7	breast:
11	chr2:51152622..51154221-chr2:51156441..51158727,2	K562	blood:
12	chr2:51152622..51154221-chr2:51156441..51158727,2	K562	blood:
13	chr2:51144781..51146893-chr2:51147491..51149076,2	K562	blood:
14	chr2:51281367..51284227-chr2:51284549..51287538,2	K562	blood:
15	chr2:51260931..51263493-chr2:51269854..51271859,2	MCF-7	breast:

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

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: 7295 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:7295 , 50 per page) page: 1 2 3 4 5 6 7 ... 146

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543690525	chr2:51135649-51135650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs547480636	chr2:51135673-51135674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559593289	chr2:51135723-51135724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369374996	chr2:51135741-51135742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs563464802	chr2:51135756-51135757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs529855625	chr2:51135766-51135767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150477381	chr2:51135779-51135780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552471552	chr2:51135802-51135803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs62140656	chr2:51135808-51135809	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs374878064	chr2:51135813-51135814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191924153	chr2:51135825-51135826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537328422	chr2:51135854-51135855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552548793	chr2:51135869-51135870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181021592	chr2:51135872-51135873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs141882581	chr2:51135887-51135888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552992033	chr2:51135895-51135896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539867835	chr2:51135960-51135961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536829261	chr2:51135970-51135971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533690367	chr2:51135971-51135972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554841299	chr2:51136007-51136008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs368144851	chr2:51136008-51136009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs186052135	chr2:51136044-51136045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs548264613	chr2:51136057-51136058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs558235834	chr2:51136098-51136099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs189723856	chr2:51136103-51136104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568584549	chr2:51136129-51136130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs370714288	chr2:51136143-51136144	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs78485975	chr2:51136186-51136187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs543703169	chr2:51136196-51136197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs60962440	chr2:51136208-51136209	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs150673657	chr2:51136248-51136249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570668164	chr2:51136257-51136258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530156352	chr2:51136269-51136270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs548698639	chr2:51136325-51136326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs140126984	chr2:51136341-51136342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563330626	chr2:51136353-51136354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182716290	chr2:51136396-51136397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs573384656	chr2:51136417-51136418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs552457138	chr2:51136458-51136459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs79577363	chr2:51136459-51136460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs78033701	chr2:51136492-51136493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs186998903	chr2:51136514-51136515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs62140658	chr2:51136534-51136535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs546301513	chr2:51136611-51136612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576413360	chr2:51136680-51136681	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535184493	chr2:51136742-51136743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2193412	chr2:51136802-51136803	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs62140659	chr2:51136851-51136852	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs537248752	chr2:51136880-51136881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190826768	chr2:51136887-51136888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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

Chromatin state (count:1081 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:51134800-51136800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:51135000-51137400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:51136400-51137000	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr2:51136400-51137000	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr2:51136400-51137200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:51136400-51137200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr2:51136600-51137000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr2:51136600-51137000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr2:51136600-51137000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr2:51136600-51137200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr2:51136800-51140000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:51137000-51140400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr2:51137200-51151400	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr2:51137400-51138200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:51138200-51138400	Enhancers	Fetal Brain Female	brain
16	chr2:51138200-51141200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:51138400-51147800	Weak transcription	Fetal Brain Female	brain
18	chr2:51139600-51140800	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr2:51140000-51140400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr2:51140800-51142600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr2:51141200-51141400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr2:51142600-51142800	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr2:51144600-51147200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr2:51147200-51147400	Enhancers	Brain Germinal Matrix	brain
25	chr2:51147200-51149000	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr2:51147400-51149800	Weak transcription	Brain Germinal Matrix	brain
27	chr2:51147800-51148200	Enhancers	Fetal Brain Female	brain
28	chr2:51148400-51148600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:51148600-51149800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:51149000-51149400	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr2:51149400-51149600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr2:51149600-51150000	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr2:51149600-51150400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:51149800-51150000	Enhancers	Aorta	Aorta
35	chr2:51149800-51150200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:51149800-51150200	Enhancers	Brain Germinal Matrix	brain
37	chr2:51149800-51150400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:51150000-51150200	Enhancers	Brain Anterior Caudate	brain
39	chr2:51150000-51150200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
40	chr2:51150200-51150400	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr2:51150200-51151200	Weak transcription	Brain Germinal Matrix	brain
42	chr2:51150200-51155200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr2:51150400-51154800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:51150400-51155000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr2:51150400-51155400	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr2:51150400-51156800	Weak transcription	Brain Anterior Caudate	brain
47	chr2:51151200-51151600	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr2:51151200-51151800	Enhancers	Brain Germinal Matrix	brain
49	chr2:51151400-51151800	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr2:51151400-51151800	Enhancers	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links