Variant report

Variant	nsv915570
Chromosome Location	chr2:51180561-51358881
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	chr2:51330505-51330576	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr2:51240144-51240458	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr2:51246247-51246255	H1-hESC	embryonic stem cell:	n/a	n/a
7	BHLHE40	chr2:51330297-51330702	HepG2	liver:	n/a	n/a
8	BRCA1	chr2:51259605-51259656	H1-hESC	embryonic stem cell:	n/a	n/a
9	BRCA1	chr2:51330435-51330474	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	chr2:51185262-51185455	H1-hESC	embryonic stem cell:	n/a	n/a
13	CBX3	chr2:51240017-51240569	HCT-116	colon:	n/a	n/a
14	CEBPB	chr2:51330315-51330732	IMR90	lung:	n/a	n/a
15	CEBPB	chr2:51328029-51328351	H1-hESC	embryonic stem cell:	n/a	n/a
16	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
17	CEBPB	chr2:51282778-51283040	IMR90	lung:	n/a	chr2:51282886-51282897
18	CEBPB	chr2:51196131-51196377	H1-hESC	embryonic stem cell:	n/a	n/a
19	CEBPB	chr2:51229690-51229927	A549	lung:	n/a	chr2:51229820-51229831
20	CEBPB	chr2:51256026-51256305	HepG2	liver:	n/a	chr2:51256172-51256183
21	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
22	CEBPB	chr2:51255964-51256336	MCF-7	breast:	n/a	chr2:51256172-51256183
23	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
24	CEBPB	chr2:51179698-51180729	Hela-S3	cervix:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
25	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
26	CEBPB	chr2:51196168-51196459	IMR90	lung:	n/a	n/a
27	CEBPB	chr2:51314497-51314768	A549	lung:	n/a	chr2:51314679-51314692 chr2:51314681-51314692 chr2:51314679-51314692 chr2:51314681-51314692
28	CEBPB	chr2:51236313-51236416	A549	lung:	n/a	n/a
29	CEBPB	chr2:51272267-51272564	A549	lung:	n/a	chr2:51272397-51272408 chr2:51272396-51272409
30	CEBPB	chr2:51179690-51180699	HCT-116	colon:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
31	CEBPB	chr2:51272237-51272566	HepG2	liver:	n/a	chr2:51272397-51272408 chr2:51272396-51272409
32	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
33	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
34	CEBPB	chr2:51330496-51330704	HepG2	liver:	n/a	n/a
35	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
36	CEBPB	chr2:51255984-51256364	HepG2	liver:	n/a	chr2:51256172-51256183
37	CEBPB	chr2:51179763-51180618	IMR90	lung:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
38	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
39	CEBPB	chr2:51179722-51180770	HCT-116	colon:	n/a	chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180278-51180287 chr2:51180276-51180287 chr2:51180278-51180287
40	CEBPB	chr2:51256005-51256373	Hela-S3	cervix:	n/a	chr2:51256172-51256183
41	CEBPB	chr2:51255998-51256347	A549	lung:	n/a	chr2:51256172-51256183
42	CEBPB	chr2:51255980-51256366	H1-hESC	embryonic stem cell:	n/a	chr2:51256172-51256183
43	CEBPB	chr2:51256083-51256253	HepG2	liver:	n/a	chr2:51256172-51256183
44	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
45	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
46	CEBPB	chr2:51240147-51240542	MCF-7	breast:	n/a	n/a
47	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
48	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
49	CEBPB	chr2:51324687-51324910	HepG2	liver:	n/a	chr2:51324819-51324830
50	CEBPB	chr2:51255989-51256366	IMR90	lung:	n/a	chr2:51256172-51256183

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:51255627-51255677	NHDF-neo	bronchial:	n/a
2	chr2:51255627-51255677	NHDF-neo	bronchial:	n/a
3	chr2:51260739-51260789	SK-N-SH	brain:	n/a
4	chr2:51260003-51260053	HUVEC	blood vessel:	n/a
5	chr2:51259552-51259602	NHDF-neo	bronchial:	n/a
6	chr2:51259693-51259743	NHBE	bronchial:	n/a
7	chr2:51255306-51255356	Hepatocyte	liver:	n/a
8	chr2:51254823-51254873	HepG2	liver:	n/a
9	chr2:51259493-51259543	IMR90	lung:	fetal
10	chr2:51259693-51259743	HepG2	liver:	n/a
11	chr2:51255306-51255356	K562	blood:	n/a
12	chr2:51255324-51255374	SAEC	small airway:	n/a
13	chr2:51260003-51260053	PFSK-1	brain:	n/a
14	chr2:51254132-51254182	ECC-1	luminal epithelium:	n/a
15	chr2:51255627-51255677	HEEpiC	esophagus:	n/a
16	chr2:51260399-51260449	HCPEpiC	choroid plexus:	n/a
17	chr2:51254823-51254873	GM12878	blood:	n/a
18	chr2:51254021-51254071	Caco-2	colon:	n/a
19	chr2:51254021-51254071	CMK	blood:	n/a
20	chr2:51259786-51259836	GM12892	blood:	n/a
21	chr2:51260003-51260053	HIPEpiC	eye:	n/a
22	chr2:51228125-51228175	NHDF-neo	bronchial:	n/a
23	chr2:51252301-51252351	HL-60	blood:	n/a
24	chr2:51228125-51228175	SAEC	small airway:	n/a
25	chr2:51254102-51254152	H1-hESC	embryonic stem cell:	embryo
26	chr2:51218880-51218930	NB4	blood:	n/a
27	chr2:51259693-51259743	GM12891	blood:	n/a
28	chr2:51259493-51259543	HCM	heart:	n/a
29	chr2:51259552-51259602	RPTEC	kidney:	n/a
30	chr2:51254170-51254220	NB4	blood:	n/a
31	chr2:51254823-51254873	SAEC	small airway:	n/a
32	chr2:51259703-51259753	HEK293	kidney:	embryo
33	chr2:51255324-51255374	NHBE	bronchial:	n/a
34	chr2:51255306-51255356	HepG2	liver:	n/a
35	chr2:51254170-51254220	SK-N-SH	brain:	n/a
36	chr2:51254102-51254152	HAEpiC	amniotic membrane:	n/a
37	chr2:51260399-51260449	HUVEC	blood vessel:	n/a
38	chr2:51218880-51218930	AG10803	skin:	n/a
39	chr2:51260399-51260449	NHBE	bronchial:	n/a
40	chr2:51260739-51260789	A549	lung:	n/a
41	chr2:51260739-51260789	PANC-1	pancreas:	n/a
42	chr2:51255627-51255677	ProgFib	skin:	n/a
43	chr2:51231649-51231699	HEEpiC	esophagus:	n/a
44	chr2:51260399-51260449	Hela-S3	cervix:	n/a
45	chr2:51252301-51252351	NB4	blood:	n/a
46	chr2:51260739-51260789	GM19239	blood:	n/a
47	chr2:51255627-51255677	HAEpiC	amniotic membrane:	n/a
48	chr2:51259697-51259747	ProgFib	skin:	n/a
49	chr2:51259807-51259857	SKMC	muscle:	n/a
50	chr2:51254170-51254220	HAEpiC	amniotic membrane:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:51260931..51263493-chr2:51269854..51271859,2	MCF-7	breast:
2	chr2:51313706..51316467-chr2:51317325..51319738,2	K562	blood:
3	chr2:51281367..51284227-chr2:51284549..51287538,2	K562	blood:
4	chr2:51288072..51290967-chr2:232569534..232571521,2	MCF-7	breast:
5	chr2:51313706..51316467-chr2:51317325..51319738,2	K562	blood:
6	chr2:51171851..51174700-chr2:51189688..51191274,2	MCF-7	breast:
7	chr2:51260931..51263493-chr2:51269854..51271859,2	MCF-7	breast:
8	chr2:51281367..51284227-chr2:51284549..51287538,2	K562	blood:

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

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

Extended variants
information (count: 5423 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:5423 , 50 per page) page: 1 2 3 4 5 6 7 ... 109

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573845639	chr2:51180564-51180565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184933230	chr2:51180577-51180578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs148511536	chr2:51180590-51180591	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187891469	chr2:51180601-51180602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545037187	chr2:51180605-51180606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs113673534	chr2:51180606-51180607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369604747	chr2:51180619-51180620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527381003	chr2:51180652-51180653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546873745	chr2:51180662-51180663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562346119	chr2:51180700-51180701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529541942	chr2:51180726-51180727	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs72828310	chr2:51180754-51180755	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs576088822	chr2:51180773-51180774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192135925	chr2:51180783-51180784	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs185070234	chr2:51180792-51180793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551364918	chr2:51180804-51180805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs566849582	chr2:51180839-51180840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146540087	chr2:51180875-51180876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555257936	chr2:51180878-51180879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114411063	chr2:51180897-51180898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7576942	chr2:51180947-51180948	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs113251585	chr2:51180962-51180963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs578005753	chr2:51180991-51180992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs188506369	chr2:51180992-51180993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs369879228	chr2:51181028-51181029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373197890	chr2:51181037-51181038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141321374	chr2:51181051-51181052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs13027145	chr2:51181124-51181125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572034538	chr2:51181130-51181131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192230904	chr2:51181142-51181143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560843844	chr2:51181185-51181186	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529458330	chr2:51181240-51181241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541206540	chr2:51181246-51181247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544413415	chr2:51181279-51181280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184254985	chr2:51181300-51181301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs562796343	chr2:51181463-51181464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533492208	chr2:51181494-51181495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115318756	chr2:51181508-51181509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs561215774	chr2:51181540-51181541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs570798859	chr2:51181587-51181588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs527760492	chr2:51181596-51181597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188810318	chr2:51181614-51181615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs567669057	chr2:51181643-51181644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs533372696	chr2:51181648-51181649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182431423	chr2:51181652-51181653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs556393657	chr2:51181656-51181657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs75209275	chr2:51181658-51181659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs538973978	chr2:51181668-51181669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs74823925	chr2:51181679-51181680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs146849036	chr2:51181686-51181687	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
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:915 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:51176200-51181400	Weak transcription	Brain Germinal Matrix	brain
2	chr2:51176400-51190600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:51177200-51181800	Weak transcription	Brain Substantia Nigra	brain
4	chr2:51177400-51182400	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:51178600-51183600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:51179600-51181200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:51179800-51186000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr2:51180000-51181200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:51180200-51181200	Enhancers	Hela-S3	cervix
10	chr2:51180200-51181400	Enhancers	NHEK	skin
11	chr2:51180200-51181600	Enhancers	HMEC	breast
12	chr2:51180200-51182200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:51180400-51181600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr2:51180400-51182400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:51180400-51184400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:51180400-51184400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:51180400-51189400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:51180800-51181000	Enhancers	Muscle Satellite Cultured Cells	--
19	chr2:51181400-51183200	Enhancers	Brain Germinal Matrix	brain
20	chr2:51181600-51182000	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr2:51181600-51182200	Enhancers	Fetal Muscle Leg	muscle
22	chr2:51181600-51183200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:51181600-51184000	Weak transcription	HMEC	breast
24	chr2:51181800-51182800	Enhancers	Brain Substantia Nigra	brain
25	chr2:51182000-51182200	Enhancers	Brain Cingulate Gyrus	brain
26	chr2:51182000-51182800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr2:51182000-51183000	Enhancers	Fetal Kidney	kidney
28	chr2:51182000-51183000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr2:51182200-51183400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:51182200-51185200	Weak transcription	Fetal Muscle Leg	muscle
31	chr2:51182400-51183000	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr2:51182400-51184000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:51182800-51183000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:51183000-51183200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr2:51183000-51183400	Enhancers	Fetal Brain Female	brain
36	chr2:51183000-51183400	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr2:51183000-51184400	Weak transcription	Fetal Kidney	kidney
38	chr2:51183000-51185200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr2:51183200-51184600	Weak transcription	Brain Germinal Matrix	brain
40	chr2:51183200-51190000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr2:51183400-51183800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:51183400-51185200	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr2:51183600-51184400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr2:51183800-51185000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:51183800-51185200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr2:51184000-51185400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:51184000-51185400	Enhancers	HMEC	breast
48	chr2:51184200-51185400	Enhancers	Brain Hippocampus Middle	brain
49	chr2:51184400-51184600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:51184400-51185000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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