Variant report

Variant	nsv934263
Chromosome Location	chr2:51139554-51259739
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	chr2:51259020-51259511	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr2:51259057-51259636	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr2:51240144-51240458	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	chr2:51246247-51246255	H1-hESC	embryonic stem cell:	n/a	n/a
6	BRCA1	chr2:51259605-51259656	H1-hESC	embryonic stem cell:	n/a	n/a
7	BRCA1	chr2:51214813-51214934	Hela-S3	cervix:	n/a	n/a
8	BRCA1	chr2:51179768-51180665	Hela-S3	cervix:	n/a	n/a
9	BRCA1	chr2:51185262-51185455	H1-hESC	embryonic stem cell:	n/a	n/a
10	CBX3	chr2:51240017-51240569	HCT-116	colon:	n/a	n/a
11	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
12	CEBPB	chr2:51256005-51256373	Hela-S3	cervix:	n/a	chr2:51256172-51256183
13	CEBPB	chr2:51256083-51256253	HepG2	liver:	n/a	chr2:51256172-51256183
14	CEBPB	chr2:51179722-51180770	HCT-116	colon:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
15	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
16	CEBPB	chr2:51196168-51196459	IMR90	lung:	n/a	n/a
17	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
18	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
19	CEBPB	chr2:51179763-51180618	IMR90	lung:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
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	chr2:51178589-51178949	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr2:51255989-51256366	IMR90	lung:	n/a	chr2:51256172-51256183
23	CEBPB	chr2:51229679-51229969	HepG2	liver:	n/a	chr2:51229820-51229831
24	CEBPB	chr2:51172595-51172790	HepG2	liver:	n/a	chr2:51172679-51172690
25	CEBPB	chr2:51255984-51256364	HepG2	liver:	n/a	chr2:51256172-51256183
26	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
27	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
28	CEBPB	chr2:51255998-51256347	A549	lung:	n/a	chr2:51256172-51256183
29	CEBPB	chr2:51255980-51256366	H1-hESC	embryonic stem cell:	n/a	chr2:51256172-51256183
30	CEBPB	chr2:51180217-51180418	K562	blood:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
31	CEBPB	chr2:51179698-51180729	Hela-S3	cervix:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
32	CEBPB	chr2:51229696-51229991	IMR90	lung:	n/a	chr2:51229820-51229831
33	CEBPB	chr2:51163327-51163752	IMR90	lung:	n/a	chr2:51163617-51163628 chr2:51163618-51163627 chr2:51163616-51163629 chr2:51163420-51163433 chr2:51163616-51163627
34	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
35	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
36	CEBPB	chr2:51196305-51196335	K562	blood:	n/a	n/a
37	CEBPB	chr2:51255896-51256399	A549	lung:	n/a	chr2:51256172-51256183
38	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
39	CEBPB	chr2:51196130-51196480	HepG2	liver:	n/a	n/a
40	CEBPB	chr2:51180120-51180462	HepG2	liver:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
41	CEBPB	chr2:51185052-51185376	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
42	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
43	CEBPB	chr2:51184080-51184410	A549	lung:	n/a	chr2:51184131-51184142
44	CEBPB	chr2:51255964-51256336	MCF-7	breast:	n/a	chr2:51256172-51256183
45	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
46	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
47	CEBPB	chr2:51184010-51184263	HepG2	liver:	n/a	chr2:51184131-51184142
48	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
49	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
50	CEBPB	chr2:51180165-51180469	A549	lung:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:51254102-51254152	HRE	kidney:	n/a
2	chr2:51254102-51254152	Caco-2	colon:	n/a
3	chr2:51259693-51259743	Hela-S3	cervix:	n/a
4	chr2:51255627-51255677	PrEC	prostate:	n/a
5	chr2:51254102-51254152	HRE	kidney:	n/a
6	chr2:51254102-51254152	Caco-2	colon:	n/a
7	chr2:51259693-51259743	Hela-S3	cervix:	n/a
8	chr2:51255627-51255677	PrEC	prostate:	n/a
9	chr2:51254132-51254182	HCM	heart:	n/a
10	chr2:51259552-51259602	RPTEC	kidney:	n/a
11	chr2:51255324-51255374	HepG2	liver:	n/a
12	chr2:51254823-51254873	SKMC	muscle:	n/a
13	chr2:51255306-51255356	T-47D	breast:	n/a
14	chr2:51259552-51259602	T-47D	breast:	n/a
15	chr2:51254132-51254182	HNPCEpiC	eye:	n/a
16	chr2:51255627-51255677	H1-hESC	embryonic stem cell:	embryo
17	chr2:51259552-51259602	BJ	skin:	n/a
18	chr2:51254981-51255031	Jurkat	blood:	n/a
19	chr2:51255627-51255677	HNPCEpiC	eye:	n/a
20	chr2:51259552-51259602	PFSK-1	brain:	n/a
21	chr2:51259693-51259743	GM19239	blood:	n/a
22	chr2:51259693-51259743	HRE	kidney:	n/a
23	chr2:51254102-51254152	HUVEC	blood vessel:	n/a
24	chr2:51218880-51218930	SK-N-SH_RA	brain:	n/a
25	chr2:51254132-51254182	HRCEpiC	kidney:	n/a
26	chr2:51259703-51259753	HPAEpiC	pulmonary alveolar:	n/a
27	chr2:51254132-51254182	T-47D	breast:	n/a
28	chr2:51218880-51218930	GM19239	blood:	n/a
29	chr2:51259697-51259747	GM19239	blood:	n/a
30	chr2:51254170-51254220	ProgFib	skin:	n/a
31	chr2:51259693-51259743	HIPEpiC	eye:	n/a
32	chr2:51254132-51254182	HAEpiC	amniotic membrane:	n/a
33	chr2:51259493-51259543	MCF-7	breast:	n/a
34	chr2:51259493-51259543	ECC-1	luminal epithelium:	n/a
35	chr2:51254102-51254152	HEEpiC	esophagus:	n/a
36	chr2:51218880-51218930	AG04449	skin:	fetal
37	chr2:51255627-51255677	NHDF-neo	bronchial:	n/a
38	chr2:51231649-51231699	HPAEpiC	pulmonary alveolar:	n/a
39	chr2:51255306-51255356	SK-N-SH	brain:	n/a
40	chr2:51254132-51254182	HCPEpiC	choroid plexus:	n/a
41	chr2:51231649-51231699	SK-N-SH_RA	brain:	n/a
42	chr2:51259703-51259753	HCM	heart:	n/a
43	chr2:51228125-51228175	HAEpiC	amniotic membrane:	n/a
44	chr2:51259493-51259543	HEEpiC	esophagus:	n/a
45	chr2:51259693-51259743	AG09319	gingival:	n/a
46	chr2:51254102-51254152	HEK293	kidney:	embryo
47	chr2:51254132-51254182	NT2-D1	testis:	n/a
48	chr2:51255306-51255356	HAEpiC	amniotic membrane:	n/a
49	chr2:51255324-51255374	BE2_C	brain:	n/a
50	chr2:51259697-51259747	NB4	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:51144781..51146893-chr2:51147491..51149076,2	K562	blood:
2	chr2:51135133..51137954-chr2:51139685..51141436,2	MCF-7	breast:
3	chr2:51171851..51174700-chr2:51189688..51191274,2	MCF-7	breast:
4	chr2:51152622..51154221-chr2:51156441..51158727,2	K562	blood:
5	chr2:51171851..51174700-chr2:51189688..51191274,2	MCF-7	breast:
6	chr2:51152622..51154221-chr2:51156441..51158727,2	K562	blood:
7	chr2:51144781..51146893-chr2:51147491..51149076,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CHAC2-4	chr2:51259739-51260154	ENSG00000231918.1

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

Extended variants
information (count: 5241 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:5241 , 50 per page) page: 1 2 3 4 5 6 7 ... 105

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386645998	chr2:51139582-51139583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187225555	chr2:51139583-51139584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138130060	chr2:51139584-51139585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201762010	chr2:51139621-51139622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs386645999	chr2:51139622-51139623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6760592	chr2:51139623-51139624	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs539806494	chr2:51139649-51139650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs188306767	chr2:51139660-51139661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs367895430	chr2:51139699-51139700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs370380693	chr2:51139702-51139703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566780254	chr2:51139731-51139732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs541709648	chr2:51139746-51139747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs180873782	chr2:51139791-51139792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555619496	chr2:51139799-51139800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10173438	chr2:51139813-51139814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs62142972	chr2:51139815-51139816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs573455980	chr2:51139821-51139822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs149176791	chr2:51139830-51139831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs556005800	chr2:51139833-51139834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs10173451	chr2:51139860-51139861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200485361	chr2:51139924-51139925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs72823575	chr2:51139925-51139926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs71404980	chr2:51139926-51139927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs397984562	chr2:51139935-51139936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs74988393	chr2:51139936-51139937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs141322913	chr2:51139940-51139941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs116832228	chr2:51139972-51139973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544932969	chr2:51139996-51139997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185864647	chr2:51140017-51140018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190184829	chr2:51140053-51140054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542705534	chr2:51140061-51140062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs560821380	chr2:51140152-51140153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529465591	chr2:51140190-51140191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs145048561	chr2:51140214-51140215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs7558540	chr2:51140228-51140229	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs80240008	chr2:51140266-51140267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551820342	chr2:51140276-51140277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs566847276	chr2:51140282-51140283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs527689812	chr2:51140296-51140297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs372754106	chr2:51140298-51140299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs566148490	chr2:51140345-51140346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs564268722	chr2:51140353-51140354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs549417615	chr2:51140367-51140368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs567437432	chr2:51140443-51140444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs369986861	chr2:51140444-51140445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs537621728	chr2:51140490-51140491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555921784	chr2:51140585-51140586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533263886	chr2:51140594-51140595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs35295378	chr2:51140601-51140602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571145816	chr2:51140604-51140605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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

Chromatin state (count:893 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:51136800-51140000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:51137000-51140400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr2:51137200-51151400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:51138200-51141200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:51138400-51147800	Weak transcription	Fetal Brain Female	brain
6	chr2:51139600-51140800	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr2:51140000-51140400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:51140800-51142600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr2:51141200-51141400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:51142600-51142800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr2:51144600-51147200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr2:51147200-51147400	Enhancers	Brain Germinal Matrix	brain
13	chr2:51147200-51149000	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr2:51147400-51149800	Weak transcription	Brain Germinal Matrix	brain
15	chr2:51147800-51148200	Enhancers	Fetal Brain Female	brain
16	chr2:51148400-51148600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:51148600-51149800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr2:51149000-51149400	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr2:51149400-51149600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr2:51149600-51150000	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr2:51149600-51150400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:51149800-51150000	Enhancers	Aorta	Aorta
23	chr2:51149800-51150200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:51149800-51150200	Enhancers	Brain Germinal Matrix	brain
25	chr2:51149800-51150400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr2:51150000-51150200	Enhancers	Brain Anterior Caudate	brain
27	chr2:51150000-51150200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr2:51150200-51150400	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr2:51150200-51151200	Weak transcription	Brain Germinal Matrix	brain
30	chr2:51150200-51155200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:51150400-51154800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:51150400-51155000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:51150400-51155400	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr2:51150400-51156800	Weak transcription	Brain Anterior Caudate	brain
35	chr2:51151200-51151600	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr2:51151200-51151800	Enhancers	Brain Germinal Matrix	brain
37	chr2:51151400-51151800	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr2:51151400-51151800	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr2:51151800-51155000	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr2:51151800-51155800	Weak transcription	Brain Germinal Matrix	brain
41	chr2:51151800-51156600	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr2:51153000-51153400	Enhancers	Brain Substantia Nigra	brain
43	chr2:51153400-51156600	Weak transcription	Brain Substantia Nigra	brain
44	chr2:51154800-51155200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:51155000-51155200	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr2:51155000-51155400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:51155200-51155600	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr2:51155200-51155600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr2:51155400-51155600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:51155400-51156000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet

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