Variant report

Variant	nsv1013378
Chromosome Location	chr2:50895835-51005949
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	CEBPB	chr2:50951993-50952357	IMR90	lung:	n/a	n/a
3	CEBPB	chr2:51003545-51003679	IMR90	lung:	n/a	n/a
4	CEBPB	chr2:50974968-50975018	HepG2	liver:	n/a	n/a
5	CEBPB	chr2:50952033-50952347	A549	lung:	n/a	n/a
6	CEBPB	chr2:50954382-50954517	HepG2	liver:	n/a	n/a
7	CEBPB	chr2:50951301-50951586	HepG2	liver:	n/a	chr2:50951423-50951436 chr2:50951424-50951435
8	CEBPB	chr2:50919242-50919552	HepG2	liver:	n/a	chr2:50919400-50919413 chr2:50919400-50919411
9	CEBPB	chr2:50919262-50919518	K562	blood:	n/a	chr2:50919400-50919413 chr2:50919400-50919411
10	CEBPB	chr2:50952036-50952291	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr2:50952000-50952353	HepG2	liver:	n/a	n/a
12	CEBPB	chr2:50919241-50919557	IMR90	lung:	n/a	chr2:50919400-50919413 chr2:50919400-50919411
13	CHD2	chr2:50947884-50948198	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr2:50902080-50902230	GM12864	blood:	n/a	n/a
15	CTCF	chr2:50973840-50973990	GM12869	blood:	n/a	chr2:50973841-50973849
16	CTCF	chr2:50973740-50973890	HRE	kidney:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
17	CTCF	chr2:50973760-50973910	GM06990	blood:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
18	CTCF	chr2:50902320-50902470	A549	lung:	n/a	n/a
19	CTCF	chr2:50973705-50973962	Hela-S3	cervix:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
20	CTCF	chr2:50969658-50969686	MCF-7	breast:	n/a	n/a
21	CTCF	chr2:50973733-50973905	A549	lung:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
22	CTCF	chr2:50902100-50902250	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr2:50902100-50902250	GM12865	blood:	n/a	n/a
24	CTCF	chr2:50973740-50973890	HEEpiC	esophagus:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
25	CTCF	chr2:50902200-50902350	GM12869	blood:	n/a	n/a
26	CTCF	chr2:50973740-50973890	HFF	foreskin:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
27	CTCF	chr2:50973780-50973930	HUVEC	blood vessel:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
28	CTCF	chr2:50902200-50902350	HRE	kidney:	n/a	n/a
29	CTCF	chr2:50973780-50973930	SK-N-SH_RA	brain:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
30	CTCF	chr2:50902080-50902230	NHEK	skin:	n/a	n/a
31	CTCF	chr2:50902100-50902250	WERI-Rb-1	eye:	n/a	n/a
32	CTCF	chr2:50973733-50973956	GM13977	blood:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
33	CTCF	chr2:50902220-50902370	A549	lung:	n/a	n/a
34	CTCF	chr2:50973685-50974004	K562	blood:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
35	CTCF	chr2:50973773-50973916	MCF-7	breast:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
36	CTCF	chr2:50973715-50973963	HUVEC	blood vessel:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
37	CTCF	chr2:50973740-50973890	A549	lung:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
38	CTCF	chr2:50973729-50973949	NHEK	skin:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
39	CTCF	chr2:50973780-50973930	AG04450	lung:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
40	CTCF	chr2:50973721-50973966	HepG2	liver:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
41	CTCF	chr2:50973687-50973983	Gliobla	brain:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
42	CTCF	chr2:50973760-50973910	HPF	lung:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
43	CTCF	chr2:50973760-50973910	NHEK	skin:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
44	CTCF	chr2:50973740-50973890	GM12870	blood:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
45	CTCF	chr2:50973760-50973910	BE2_C	brain:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
46	CTCF	chr2:50973740-50973890	AG10803	skin:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
47	CTCF	chr2:50902035-50902240	K562	blood:	n/a	n/a
48	CTCF	chr2:50902120-50902270	GM12866	blood:	n/a	n/a
49	CTCF	chr2:50902100-50902250	HFF-Myc	foreskin:	n/a	n/a
50	CTCF	chr2:50902140-50902290	NB4	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:50956659-50956709	RPTEC	kidney:	n/a
2	chr2:50992829-50992879	PFSK-1	brain:	n/a
3	chr2:50956659-50956709	NH-A	brain:	n/a
4	chr2:50992829-50992879	AG04450	lung:	fetal
5	chr2:50992829-50992879	HepG2	liver:	n/a
6	chr2:51001003-51001053	IMR90	lung:	fetal
7	chr2:50956659-50956709	GM12891	blood:	n/a
8	chr2:50992829-50992879	HCM	heart:	n/a
9	chr2:50992829-50992879	GM12892	blood:	n/a
10	chr2:50992829-50992879	HCT-116	colon:	n/a
11	chr2:51001003-51001053	AG09309	skin:	n/a
12	chr2:50992829-50992879	H1-hESC	embryonic stem cell:	embryo
13	chr2:50956659-50956709	K562	blood:	n/a
14	chr2:51001003-51001053	HEEpiC	esophagus:	n/a
15	chr2:51001003-51001053	Jurkat	blood:	n/a
16	chr2:50992829-50992879	IMR90	lung:	fetal
17	chr2:50956659-50956709	HRCEpiC	kidney:	n/a
18	chr2:50992829-50992879	Hepatocyte	liver:	n/a
19	chr2:50956659-50956709	NHBE	bronchial:	n/a
20	chr2:50992829-50992879	NHBE	bronchial:	n/a
21	chr2:51001003-51001053	AoSMC	blood vessel:	n/a
22	chr2:50956659-50956709	HIPEpiC	eye:	n/a
23	chr2:50956659-50956709	U87	brain:	n/a
24	chr2:51001003-51001053	Hepatocyte	liver:	n/a
25	chr2:51001003-51001053	GM12892	blood:	n/a
26	chr2:50992829-50992879	PANC-1	pancreas:	n/a
27	chr2:50956659-50956709	AG04449	skin:	fetal
28	chr2:50956659-50956709	A549	lung:	n/a
29	chr2:50956659-50956709	GM19239	blood:	n/a
30	chr2:51001003-51001053	NT2-D1	testis:	n/a
31	chr2:51001003-51001053	HCM	heart:	n/a
32	chr2:50956659-50956709	T-47D	breast:	n/a
33	chr2:50992829-50992879	Jurkat	blood:	n/a
34	chr2:50992829-50992879	HCPEpiC	choroid plexus:	n/a
35	chr2:50992829-50992879	NHDF-neo	bronchial:	n/a
36	chr2:51001003-51001053	SK-N-MC	brain:	n/a
37	chr2:51001003-51001053	U87	brain:	n/a
38	chr2:50956659-50956709	CMK	blood:	n/a
39	chr2:51001003-51001053	ECC-1	luminal epithelium:	n/a
40	chr2:50956659-50956709	IMR90	lung:	fetal
41	chr2:51001003-51001053	HIPEpiC	eye:	n/a
42	chr2:51001003-51001053	AG10803	skin:	n/a
43	chr2:50992829-50992879	HEK293	kidney:	embryo
44	chr2:50956659-50956709	NB4	blood:	n/a
45	chr2:51001003-51001053	HPAEpiC	pulmonary alveolar:	n/a
46	chr2:50956659-50956709	PFSK-1	brain:	n/a
47	chr2:50992829-50992879	LNCaP	prostate:	n/a
48	chr2:51001003-51001053	ovcar-3	ovarian:	n/a
49	chr2:51001003-51001053	A549	lung:	n/a
50	chr2:51001003-51001053	AG04449	skin:	fetal

No.	Distal block	Cell Line	Cell type
1	chr2:50965713..50967269-chr2:50975937..50978033,2	K562	blood:
2	chr2:50977335..50979735-chr2:50992909..50995322,2	K562	blood:
3	chr2:50977335..50979735-chr2:50992909..50995322,2	K562	blood:
4	chr2:50965713..50967269-chr2:50975937..50978033,2	K562	blood:
5	chr2:50985182..50988156-chr2:50995412..50998213,2	K562	blood:
6	chr2:50985182..50988156-chr2:50995412..50998213,2	K562	blood:
7	chr2:50946676..50947176-chr20:60981159..60981778,2	MCF-7	breast:
8	chr2:50973459..50974271-chr2:52224493..52225477,4	MCF-7	breast:
9	chr2:50909775..50912434-chr2:50920496..50923402,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000216191	TF binding region
ENSG00000216191	CpG island
ENSG00000216191	chromatin interactions

Extended variants
information (count: 3644 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:3644 , 50 per page) page: 1 2 3 4 5 6 7 ... 73

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs864551	chr2:50895837-50895838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs554679733	chr2:50895846-50895847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570015468	chr2:50895849-50895850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537369953	chr2:50895895-50895896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559197207	chr2:50895927-50895928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577062653	chr2:50895939-50895940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144978842	chr2:50896031-50896032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553102808	chr2:50896059-50896060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181687014	chr2:50896064-50896065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541894531	chr2:50896071-50896072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563166139	chr2:50896075-50896076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs530523443	chr2:50896151-50896152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186686456	chr2:50896171-50896172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377712557	chr2:50896172-50896173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs545820846	chr2:50896185-50896186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564384172	chr2:50896227-50896228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140995961	chr2:50896258-50896259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528351804	chr2:50896264-50896265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs546840118	chr2:50896281-50896282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568029751	chr2:50896292-50896293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192456256	chr2:50896310-50896311	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530168502	chr2:50896339-50896340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548639745	chr2:50896399-50896400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569995393	chr2:50896401-50896402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs17040937	chr2:50896413-50896414	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs182082592	chr2:50896487-50896488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs72837016	chr2:50896488-50896489	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs534957474	chr2:50896523-50896524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553166046	chr2:50896524-50896525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377733805	chr2:50896603-50896604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574670766	chr2:50896650-50896651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs367601502	chr2:50896665-50896666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144927961	chr2:50896722-50896723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535244027	chr2:50896754-50896755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549401686	chr2:50896801-50896802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370783069	chr2:50896818-50896819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs573569288	chr2:50896823-50896824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199500812	chr2:50896940-50896941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs3930612	chr2:50896945-50896946	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs545789796	chr2:50896949-50896950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564045859	chr2:50896953-50896954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573191875	chr2:50896969-50896970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13392005	chr2:50896986-50896987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs35701701	chr2:50897014-50897015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544078042	chr2:50897050-50897051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540515426	chr2:50897062-50897063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561890099	chr2:50897077-50897078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs529078843	chr2:50897106-50897107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186087690	chr2:50897111-50897112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548431337	chr2:50897137-50897138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

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

Chromatin state (count:503 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50890400-50899200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:50895200-50896200	Enhancers	Brain Substantia Nigra	brain
3	chr2:50895600-50896000	Enhancers	Brain Cingulate Gyrus	brain
4	chr2:50895800-50896000	Enhancers	Brain Germinal Matrix	brain
5	chr2:50896000-50896400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:50899200-50899600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:50899200-50899800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:50899600-50899800	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr2:50904200-50904600	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr2:50905400-50905800	Enhancers	Brain Hippocampus Middle	brain
11	chr2:50905600-50906200	Enhancers	Brain Anterior Caudate	brain
12	chr2:50905800-50906200	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr2:50913400-50914000	Enhancers	Brain Angular Gyrus	brain
14	chr2:50913400-50914600	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr2:50913600-50914800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr2:50913600-50916000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr2:50913600-50916200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr2:50913800-50915800	Enhancers	Brain Anterior Caudate	brain
19	chr2:50913800-50916200	Enhancers	H1 Cell Line	embryonic stem cell
20	chr2:50914000-50914200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:50914000-50914200	Enhancers	Brain Cingulate Gyrus	brain
22	chr2:50914000-50914400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:50914000-50917800	Weak transcription	Brain Angular Gyrus	brain
24	chr2:50914200-50915200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:50914200-50916000	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr2:50914200-50918600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr2:50914400-50918400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:50914600-50914800	Enhancers	H9 Cell Line	embryonic stem cell
29	chr2:50914600-50914800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr2:50914600-50915200	Enhancers	Fetal Heart	heart
31	chr2:50914800-50915200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr2:50914800-50915200	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr2:50914800-50915800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr2:50915000-50915200	Enhancers	Brain Substantia Nigra	brain
35	chr2:50915000-50915400	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr2:50915000-50915600	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr2:50915200-50915600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr2:50915200-50915800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr2:50915200-50916000	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr2:50915600-50915800	Enhancers	H9 Cell Line	embryonic stem cell
41	chr2:50915600-50916000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr2:50915600-50916200	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr2:50915800-50917800	Weak transcription	Brain Anterior Caudate	brain
44	chr2:50915800-50918600	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr2:50915800-50918800	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr2:50916000-50918600	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr2:50916000-50918800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr2:50916000-50948000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr2:50916200-50923800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr2:50917600-50917800	Enhancers	Brain Hippocampus Middle	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links