Variant report

Variant	nsv949611
Chromosome Location	chr2:50849724-51086349
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	BACH1	chr2:50955596-50955702	K562	blood:	n/a	n/a
2	BACH1	chr2:51083034-51083154	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr2:51080873-51081218	IMR90	lung:	n/a	chr2:51081037-51081050 chr2:51081039-51081048
4	CEBPB	chr2:50954382-50954517	HepG2	liver:	n/a	n/a
5	CEBPB	chr2:50919241-50919557	IMR90	lung:	n/a	chr2:50919400-50919413 chr2:50919400-50919411
6	CEBPB	chr2:51051532-51051664	HepG2	liver:	n/a	chr2:51051618-51051629 chr2:51051616-51051627 chr2:51051616-51051629
7	CEBPB	chr2:51077746-51078099	IMR90	lung:	n/a	chr2:51077903-51077914 chr2:51077818-51077830 chr2:51077904-51077913
8	CEBPB	chr2:50919242-50919552	HepG2	liver:	n/a	chr2:50919400-50919413 chr2:50919400-50919411
9	CEBPB	chr2:50952036-50952291	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr2:50952000-50952353	HepG2	liver:	n/a	n/a
11	CEBPB	chr2:51084911-51085196	IMR90	lung:	n/a	chr2:51085060-51085071
12	CEBPB	chr2:50890728-50891191	HepG2	liver:	n/a	chr2:50890749-50890760 chr2:50891044-50891055
13	CEBPB	chr2:51042035-51042364	HepG2	liver:	n/a	chr2:51042175-51042186
14	CEBPB	chr2:51039958-51040191	HepG2	liver:	n/a	n/a
15	CEBPB	chr2:51068879-51068992	HepG2	liver:	n/a	chr2:51068958-51068969
16	CEBPB	chr2:51003545-51003679	IMR90	lung:	n/a	n/a
17	CEBPB	chr2:51042082-51042350	A549	lung:	n/a	chr2:51042175-51042186
18	CEBPB	chr2:51084918-51085221	HepG2	liver:	n/a	chr2:51085060-51085071
19	CEBPB	chr2:51077727-51078088	H1-hESC	embryonic stem cell:	n/a	chr2:51077903-51077914 chr2:51077818-51077830 chr2:51077904-51077913
20	CEBPB	chr2:50854171-50854480	A549	lung:	n/a	chr2:50854319-50854330 chr2:50854320-50854331 chr2:50854319-50854332
21	CEBPB	chr2:50919262-50919518	K562	blood:	n/a	chr2:50919400-50919413 chr2:50919400-50919411
22	CEBPB	chr2:51080929-51081152	A549	lung:	n/a	chr2:51081037-51081050 chr2:51081039-51081048
23	CEBPB	chr2:51084920-51085210	H1-hESC	embryonic stem cell:	n/a	chr2:51085060-51085071
24	CEBPB	chr2:50974968-50975018	HepG2	liver:	n/a	n/a
25	CEBPB	chr2:50858684-50858994	HepG2	liver:	n/a	chr2:50858808-50858817 chr2:50858807-50858818 chr2:50858808-50858817 chr2:50858808-50858817 chr2:50858806-50858817 chr2:50858808-50858817
26	CEBPB	chr2:51077765-51078077	A549	lung:	n/a	chr2:51077903-51077914 chr2:51077818-51077830 chr2:51077904-51077913
27	CEBPB	chr2:51080924-51081178	H1-hESC	embryonic stem cell:	n/a	chr2:51081037-51081050 chr2:51081039-51081048
28	CEBPB	chr2:50951301-50951586	HepG2	liver:	n/a	chr2:50951423-50951436 chr2:50951424-50951435
29	CEBPB	chr2:50854209-50854495	HepG2	liver:	n/a	chr2:50854319-50854330 chr2:50854320-50854331 chr2:50854319-50854332
30	CEBPB	chr2:50854196-50854476	IMR90	lung:	n/a	chr2:50854319-50854330 chr2:50854320-50854331 chr2:50854319-50854332
31	CEBPB	chr2:51077732-51078049	Hela-S3	cervix:	n/a	chr2:51077903-51077914 chr2:51077818-51077830 chr2:51077904-51077913
32	CEBPB	chr2:51077720-51078095	HepG2	liver:	n/a	chr2:51077903-51077914 chr2:51077818-51077830 chr2:51077904-51077913
33	CEBPB	chr2:51080893-51081164	Hela-S3	cervix:	n/a	chr2:51081037-51081050 chr2:51081039-51081048
34	CEBPB	chr2:51084914-51085194	A549	lung:	n/a	chr2:51085060-51085071
35	CEBPB	chr2:50952033-50952347	A549	lung:	n/a	n/a
36	CEBPB	chr2:50951993-50952357	IMR90	lung:	n/a	n/a
37	CEBPB	chr2:51080882-51081169	HepG2	liver:	n/a	chr2:51081037-51081050 chr2:51081039-51081048
38	CHD2	chr2:50947884-50948198	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD2	chr2:51020103-51020131	GM12878	blood:	n/a	n/a
40	CTCF	chr2:50973760-50973910	AG09319	gingival:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
41	CTCF	chr2:50973741-50973938	GM19240	blood:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
42	CTCF	chr2:50902081-50902284	HepG2	liver:	n/a	n/a
43	CTCF	chr2:50978500-50978650	HMEC	breast:	n/a	n/a
44	CTCF	chr2:51013640-51013790	HRPEpiC	eye:	n/a	chr2:51013673-51013694 chr2:51013679-51013695 chr2:51013678-51013696
45	CTCF	chr2:50902080-50902230	GM12873	blood:	n/a	n/a
46	CTCF	chr2:50902140-50902290	HRPEpiC	eye:	n/a	n/a
47	CTCF	chr2:50902120-50902270	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr2:50973740-50973890	NHEK	skin:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
49	CTCF	chr2:50973752-50973932	GM12891	blood:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
50	CTCF	chr2:51013620-51013770	WERI-Rb-1	eye:	n/a	chr2:51013673-51013694 chr2:51013679-51013695 chr2:51013678-51013696

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:50884693-50884743	NB4	blood:	n/a
2	chr2:51074939-51074989	ovcar-3	ovarian:	n/a
3	chr2:50884693-50884743	NB4	blood:	n/a
4	chr2:51074939-51074989	ovcar-3	ovarian:	n/a
5	chr2:50884252-50884302	HEK293	kidney:	embryo
6	chr2:50852209-50852259	Hela-S3	cervix:	n/a
7	chr2:51057548-51057598	RPTEC	kidney:	n/a
8	chr2:51074881-51074931	SK-N-SH_RA	brain:	n/a
9	chr2:50956659-50956709	HMEC	breast:	n/a
10	chr2:50863603-50863653	HepG2	liver:	n/a
11	chr2:50956659-50956709	NT2-D1	testis:	n/a
12	chr2:50884252-50884302	HIPEpiC	eye:	n/a
13	chr2:51065673-51065723	HCT-116	colon:	n/a
14	chr2:51074881-51074931	SKMC	muscle:	n/a
15	chr2:51065673-51065723	HEK293	kidney:	embryo
16	chr2:50876837-50876887	PrEC	prostate:	n/a
17	chr2:51001003-51001053	U87	brain:	n/a
18	chr2:50992829-50992879	Hepatocyte	liver:	n/a
19	chr2:51056884-51056934	U87	brain:	n/a
20	chr2:51074939-51074989	HEK293	kidney:	embryo
21	chr2:51001003-51001053	GM06990	blood:	n/a
22	chr2:51056822-51056872	PANC-1	pancreas:	n/a
23	chr2:50863603-50863653	ECC-1	luminal epithelium:	n/a
24	chr2:50884693-50884743	HCF	heart:	n/a
25	chr2:51074881-51074931	MCF-7	breast:	n/a
26	chr2:51074939-51074989	HL-60	blood:	n/a
27	chr2:51065673-51065723	HAEpiC	amniotic membrane:	n/a
28	chr2:50863603-50863653	IMR90	lung:	fetal
29	chr2:50863603-50863653	GM12891	blood:	n/a
30	chr2:51065673-51065723	MCF-7	breast:	n/a
31	chr2:50884693-50884743	ECC-1	luminal epithelium:	n/a
32	chr2:50992829-50992879	LNCaP	prostate:	n/a
33	chr2:50876837-50876887	NH-A	brain:	n/a
34	chr2:50852209-50852259	GM19239	blood:	n/a
35	chr2:51056822-51056872	ovcar-3	ovarian:	n/a
36	chr2:50884693-50884743	AG09309	skin:	n/a
37	chr2:51057218-51057268	HRE	kidney:	n/a
38	chr2:51057548-51057598	Hela-S3	cervix:	n/a
39	chr2:51056884-51056934	NB4	blood:	n/a
40	chr2:51057548-51057598	SAEC	small airway:	n/a
41	chr2:50884693-50884743	LNCaP	prostate:	n/a
42	chr2:50863603-50863653	HEEpiC	esophagus:	n/a
43	chr2:50884252-50884302	MCF-7	breast:	n/a
44	chr2:51074939-51074989	RPTEC	kidney:	n/a
45	chr2:51057218-51057268	NHDF-neo	bronchial:	n/a
46	chr2:50992829-50992879	Jurkat	blood:	n/a
47	chr2:51065673-51065723	SK-N-SH_RA	brain:	n/a
48	chr2:50863603-50863653	HCF	heart:	n/a
49	chr2:51057548-51057598	HL-60	blood:	n/a
50	chr2:51057548-51057598	NB4	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:50884335..50886694-chr2:50887318..50889235,3	K562	blood:
2	chr2:50883231..50884999-chr2:50887642..50889397,2	MCF-7	breast:
3	chr2:50884335..50886694-chr2:50887318..50889235,3	K562	blood:
4	chr2:50985182..50988156-chr2:50995412..50998213,2	K562	blood:
5	chr2:51084150..51086897-chr2:51088805..51090362,2	K562	blood:
6	chr2:50985182..50988156-chr2:50995412..50998213,2	K562	blood:
7	chr2:50977335..50979735-chr2:50992909..50995322,2	K562	blood:
8	chr2:51018306..51019906-chr2:51022210..51025087,2	K562	blood:
9	chr2:50965713..50967269-chr2:50975937..50978033,2	K562	blood:
10	chr2:50977335..50979735-chr2:50992909..50995322,2	K562	blood:
11	chr2:51018306..51019906-chr2:51022210..51025087,2	K562	blood:
12	chr2:50884111..50885778-chr2:50886770..50888521,2	MCF-7	breast:
13	chr2:50965713..50967269-chr2:50975937..50978033,2	K562	blood:
14	chr2:50946676..50947176-chr20:60981159..60981778,2	MCF-7	breast:
15	chr2:50884111..50885778-chr2:50886770..50888521,2	MCF-7	breast:
16	chr2:50973459..50974271-chr2:52224493..52225477,4	MCF-7	breast:
17	chr2:50909775..50912434-chr2:50920496..50923402,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STON1-GTF2A1L-4	chr2:50858415-50858521	NONHSAT070645
2	lnc-FSHR-5	chr2:51056580-51056816	NONHSAT070648
3	lnc-STON1-GTF2A1L-4	chr2:50851950-50852041	NONHSAT070645
4	lnc-STON1-GTF2A1L-4	chr2:50859486-50859749	NONHSAT070645

Variant related genes	Relation type
ENSG00000216191	TF binding region
ENSG00000238165	TF binding region
NRXN1	TF binding region
ENSG00000215968	TF binding region
ENSG00000216191	CpG island
ENSG00000238165	CpG island
NRXN1	CpG island
ENSG00000215968	CpG island
ENSG00000216191	chromatin interactions
ENSG00000179915	chromatin interactions

Extended variants
information (count: 8514 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:8514 , 50 per page) page: 1 2 3 4 5 6 7 ... 171

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7602917	chr2:50849724-50849725	Weak transcription Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs569655956	chr2:50849745-50849746	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115552036	chr2:50849784-50849785	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112618047	chr2:50849793-50849794	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs6741643	chr2:50849814-50849815	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs570677426	chr2:50849861-50849862	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534525239	chr2:50849876-50849877	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs552737102	chr2:50849997-50849998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572253312	chr2:50850019-50850020	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536324274	chr2:50850023-50850024	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554576682	chr2:50850035-50850036	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs576372868	chr2:50850052-50850053	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369130433	chr2:50850059-50850060	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539358439	chr2:50850092-50850093	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139607006	chr2:50850098-50850099	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144420535	chr2:50850104-50850105	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541692688	chr2:50850114-50850115	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181234072	chr2:50850158-50850159	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs529851500	chr2:50850216-50850217	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs151081617	chr2:50850221-50850222	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs78030824	chr2:50850255-50850256	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs563365906	chr2:50850259-50850260	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs530424817	chr2:50850266-50850267	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs552108670	chr2:50850267-50850268	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs570692810	chr2:50850327-50850328	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs61190471	chr2:50850340-50850341	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs185322038	chr2:50850366-50850367	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs141098043	chr2:50850376-50850377	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs201845640	chr2:50850403-50850404	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs200098024	chr2:50850410-50850411	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs369982509	chr2:50850416-50850417	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs201074140	chr2:50850421-50850422	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs202149707	chr2:50850443-50850444	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs200448187	chr2:50850444-50850445	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs201168853	chr2:50850497-50850498	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs202110758	chr2:50850506-50850507	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs34326676	chr2:50850508-50850509	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs200259338	chr2:50850527-50850528	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs201397488	chr2:50850536-50850537	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs202170448	chr2:50850584-50850585	Enhancers Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs373257438	chr2:50850608-50850609	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs375859050	chr2:50850617-50850618	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs200532412	chr2:50850656-50850657	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs373580355	chr2:50850658-50850659	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs201423837	chr2:50850660-50850661	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs2303298	chr2:50850686-50850687	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs200464704	chr2:50850704-50850705	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs373654735	chr2:50850722-50850723	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs201753471	chr2:50850731-50850732	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs199712573	chr2:50850758-50850759	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:108)

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
Psychiatric disorder	19734545	CNVD
Autism	20844286	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Autism	19218893	CNVD
Autism	22209245	CNVD
Neuropsychiatric disorder	21827697	CNVD
Schizophrenia	22118685	CNVD
Autism	20663923	CNVD
Schizophrenia	21285140	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21990379	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
Acute myeloid leukemia	20729466	CNVD
Bipolar disorder	19114987	CNVD
Autism	20841430	CNVD
Schizophrenia	20967226	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:897 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50839000-50851800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:50843000-50853600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:50848000-50850400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:50848200-50851800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr2:50848400-50850200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr2:50848600-50850600	Strong transcription	Brain Germinal Matrix	brain
7	chr2:50849400-50850400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:50849400-50854600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr2:50850200-50850600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr2:50850200-50850600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr2:50850200-50850800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:50850200-50850800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:50850400-50850600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:50850400-50850600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr2:50850400-50850800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr2:50850400-50850800	Enhancers	H1 Cell Line	embryonic stem cell
17	chr2:50850600-50850800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr2:50850600-50851600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr2:50850600-50852600	Weak transcription	Brain Germinal Matrix	brain
20	chr2:50850800-50851200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr2:50850800-50851800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr2:50850800-50854800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr2:50851200-50852400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:50851600-50852000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr2:50851800-50852000	Enhancers	H1 Cell Line	embryonic stem cell
26	chr2:50851800-50852000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr2:50851800-50852400	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr2:50852000-50854400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr2:50854400-50855200	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr2:50854600-50854800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr2:50854800-50855000	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr2:50854800-50855200	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr2:50854800-50860200	Weak transcription	Fetal Brain Male	brain
34	chr2:50855200-50862600	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr2:50860200-50860400	Enhancers	Fetal Brain Male	brain
36	chr2:50862000-50863600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:50862000-50863800	Enhancers	H1 Cell Line	embryonic stem cell
38	chr2:50862000-50864600	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr2:50862600-50863600	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr2:50862600-50864000	Enhancers	iPS-20b Cell Line	embryonic stem cell
41	chr2:50862600-50865800	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr2:50862800-50863800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr2:50862800-50865800	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr2:50863000-50864200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr2:50863000-50864800	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr2:50863400-50863800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr2:50863400-50864000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:50863400-50864000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr2:50863600-50864000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr2:50863800-50865400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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