Variant report

Variant	nsv917001
Chromosome Location	chr2:50918461-51007990
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	chr2:50919262-50919518	K562	blood:	n/a	chr2:50919400-50919413 chr2:50919400-50919411
3	CEBPB	chr2:50951301-50951586	HepG2	liver:	n/a	chr2:50951423-50951436 chr2:50951424-50951435
4	CEBPB	chr2:50954382-50954517	HepG2	liver:	n/a	n/a
5	CEBPB	chr2:50974968-50975018	HepG2	liver:	n/a	n/a
6	CEBPB	chr2:50952000-50952353	HepG2	liver:	n/a	n/a
7	CEBPB	chr2:50919242-50919552	HepG2	liver:	n/a	chr2:50919400-50919413 chr2:50919400-50919411
8	CEBPB	chr2:51003545-51003679	IMR90	lung:	n/a	n/a
9	CEBPB	chr2:50952036-50952291	H1-hESC	embryonic stem cell:	n/a	n/a
10	CEBPB	chr2:50951993-50952357	IMR90	lung:	n/a	n/a
11	CEBPB	chr2:50919241-50919557	IMR90	lung:	n/a	chr2:50919400-50919413 chr2:50919400-50919411
12	CEBPB	chr2:50952033-50952347	A549	lung:	n/a	n/a
13	CHD2	chr2:50947884-50948198	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr2:50973720-50973870	HFF-Myc	foreskin:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
15	CTCF	chr2:50973772-50973922	GM19239	blood:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
16	CTCF	chr2:50973740-50973890	NB4	blood:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
17	CTCF	chr2:50973800-50973950	GM12866	blood:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
18	CTCF	chr2:50973743-50973945	Pancreas_OC	pancreas:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
19	CTCF	chr2:50973705-50973915	A549	lung:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
20	CTCF	chr2:50973780-50973930	GM12875	blood:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
21	CTCF	chr2:50973756-50973917	GM20000	blood:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
22	CTCF	chr2:50973717-50973974	GM12878	blood:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
23	CTCF	chr2:50973780-50973930	HCT-116	colon:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
24	CTCF	chr2:50973750-50973941	Kidney_OC	kidney:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
25	CTCF	chr2:50973760-50973923	K562	blood:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
26	CTCF	chr2:50973760-50973910	GM12871	blood:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
27	CTCF	chr2:50973760-50973910	RPTEC	kidney:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
28	CTCF	chr2:50973760-50973910	BJ	skin:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
29	CTCF	chr2:50973420-50973570	HAc	cerebellar:	n/a	n/a
30	CTCF	chr2:50973732-50973965	GM19238	blood:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
31	CTCF	chr2:50973760-50973910	BE2_C	brain:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
32	CTCF	chr2:50973760-50973910	GM12878	blood:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
33	CTCF	chr2:50973708-50973972	MCF-7	breast:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
34	CTCF	chr2:50973760-50973910	HPAF	blood vessel:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
35	CTCF	chr2:50973715-50973963	HUVEC	blood vessel:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
36	CTCF	chr2:50973740-50973890	HA-sp	spinal cord:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
37	CTCF	chr2:50973800-50973950	HL-60	blood:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
38	CTCF	chr2:50973740-50973890	HAc	cerebellar:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
39	CTCF	chr2:50973704-50973959	H1-hESC	embryonic stem cell:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
40	CTCF	chr2:50973740-50973890	NHEK	skin:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
41	CTCF	chr2:50973780-50973930	HCPEpiC	choroid plexus:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
42	CTCF	chr2:50973733-50973949	ProgFib	skin:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
43	CTCF	chr2:50973820-50973970	HCM	heart:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
44	CTCF	chr2:50973780-50973930	HBMEC	blood vessel:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
45	CTCF	chr2:50973760-50973910	HCPEpiC	choroid plexus:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
46	CTCF	chr2:50976420-50976570	Caco-2	colon:	n/a	n/a
47	CTCF	chr2:50973746-50973940	MCF-7	breast:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
48	CTCF	chr2:50973760-50973910	Caco-2	colon:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
49	CTCF	chr2:50973720-50973870	HEK293	kidney:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854
50	CTCF	chr2:50973720-50973870	AoAF	blood vessel:	n/a	chr2:50973838-50973859 chr2:50973841-50973849 chr2:50973836-50973854

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:51001003-51001053	Hela-S3	cervix:	n/a
2	chr2:51001003-51001053	PrEC	prostate:	n/a
3	chr2:50992829-50992879	NH-A	brain:	n/a
4	chr2:51001003-51001053	AG10803	skin:	n/a
5	chr2:50992829-50992879	AG09309	skin:	n/a
6	chr2:50992829-50992879	HIPEpiC	eye:	n/a
7	chr2:51001003-51001053	HAEpiC	amniotic membrane:	n/a
8	chr2:50956659-50956709	K562	blood:	n/a
9	chr2:51001003-51001053	MCF10A-Er-Src	breast:	n/a
10	chr2:50956659-50956709	BJ	skin:	n/a
11	chr2:50992829-50992879	AG04449	skin:	fetal
12	chr2:50956659-50956709	SAEC	small airway:	n/a
13	chr2:50992829-50992879	SAEC	small airway:	n/a
14	chr2:50956659-50956709	HEEpiC	esophagus:	n/a
15	chr2:50956659-50956709	Hepatocyte	liver:	n/a
16	chr2:50992829-50992879	AG09319	gingival:	n/a
17	chr2:50992829-50992879	MCF10A-Er-Src	breast:	n/a
18	chr2:51001003-51001053	GM12891	blood:	n/a
19	chr2:50956659-50956709	PFSK-1	brain:	n/a
20	chr2:50956659-50956709	T-47D	breast:	n/a
21	chr2:50992829-50992879	AoSMC	blood vessel:	n/a
22	chr2:50992829-50992879	SK-N-SH	brain:	n/a
23	chr2:50956659-50956709	H1-hESC	embryonic stem cell:	embryo
24	chr2:51001003-51001053	HepG2	liver:	n/a
25	chr2:50992829-50992879	AG10803	skin:	n/a
26	chr2:50956659-50956709	HRPEpiC	eye:	n/a
27	chr2:51001003-51001053	HMEC	breast:	n/a
28	chr2:50992829-50992879	MCF-7	breast:	n/a
29	chr2:50956659-50956709	HAEpiC	amniotic membrane:	n/a
30	chr2:51001003-51001053	NT2-D1	testis:	n/a
31	chr2:51001003-51001053	CMK	blood:	n/a
32	chr2:50992829-50992879	HUVEC	blood vessel:	n/a
33	chr2:50956659-50956709	HRCEpiC	kidney:	n/a
34	chr2:50956659-50956709	GM12878	blood:	n/a
35	chr2:50992829-50992879	NHDF-neo	bronchial:	n/a
36	chr2:51001003-51001053	K562	blood:	n/a
37	chr2:51001003-51001053	NB4	blood:	n/a
38	chr2:50956659-50956709	Jurkat	blood:	n/a
39	chr2:50956659-50956709	PrEC	prostate:	n/a
40	chr2:51001003-51001053	SAEC	small airway:	n/a
41	chr2:50992829-50992879	ECC-1	luminal epithelium:	n/a
42	chr2:51001003-51001053	Jurkat	blood:	n/a
43	chr2:50992829-50992879	GM19239	blood:	n/a
44	chr2:50956659-50956709	NB4	blood:	n/a
45	chr2:50956659-50956709	HUVEC	blood vessel:	n/a
46	chr2:50992829-50992879	SKMC	muscle:	n/a
47	chr2:50956659-50956709	HMEC	breast:	n/a
48	chr2:50956659-50956709	CMK	blood:	n/a
49	chr2:51001003-51001053	MCF-7	breast:	n/a
50	chr2:51001003-51001053	AG09309	skin:	n/a

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

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

Extended variants
information (count: 3233 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:3233 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564928752	chr2:50918464-50918465	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs181330971	chr2:50918506-50918507	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs368323919	chr2:50918538-50918539	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs573258785	chr2:50918550-50918551	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs566923569	chr2:50918582-50918583	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs548002825	chr2:50918593-50918594	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs567786064	chr2:50918606-50918607	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs145364461	chr2:50918641-50918642	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs549364730	chr2:50918649-50918650	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs546356981	chr2:50918661-50918662	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs538135461	chr2:50918706-50918707	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs147232215	chr2:50918733-50918734	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs560105311	chr2:50918747-50918748	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs538810015	chr2:50918757-50918758	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs553456260	chr2:50918761-50918762	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs571772159	chr2:50918786-50918787	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs368700379	chr2:50918852-50918853	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs540710385	chr2:50918855-50918856	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs542246799	chr2:50918856-50918857	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs72887534	chr2:50918918-50918919	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs576330613	chr2:50918925-50918926	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs562199595	chr2:50918937-50918938	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs543343482	chr2:50918965-50918966	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs9309190	chr2:50918967-50918968	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs547418809	chr2:50918997-50918998	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs560825988	chr2:50919040-50919041	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs191087622	chr2:50919101-50919102	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs374961264	chr2:50919145-50919146	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs182116065	chr2:50919153-50919154	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs371819731	chr2:50919160-50919161	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs560586245	chr2:50919162-50919163	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs527772014	chr2:50919163-50919164	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs186086389	chr2:50919193-50919194	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs567550135	chr2:50919223-50919224	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs138522931	chr2:50919255-50919256	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs74560955	chr2:50919297-50919298	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs538488599	chr2:50919301-50919302	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs554183793	chr2:50919302-50919303	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs568864031	chr2:50919406-50919407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs550218633	chr2:50919436-50919437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs76300074	chr2:50919438-50919439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs571864333	chr2:50919501-50919502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191052448	chr2:50919534-50919535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs78773032	chr2:50919608-50919609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551922641	chr2:50919609-50919610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs553929324	chr2:50919644-50919645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs139788211	chr2:50919657-50919658	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs183248445	chr2:50919700-50919701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs554589382	chr2:50919706-50919707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565661701	chr2:50919737-50919738	Weak transcription Enhancers	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:458 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50914200-50918600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr2:50915800-50918600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr2:50915800-50918800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:50916000-50918600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr2:50916000-50918800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr2:50916000-50948000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr2:50916200-50923800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr2:50917800-50918600	Enhancers	Brain Anterior Caudate	brain
9	chr2:50918200-50918800	Weak transcription	Brain Substantia Nigra	brain
10	chr2:50918400-50918600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr2:50918400-50918800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:50918400-50919200	Active TSS	Brain Angular Gyrus	brain
13	chr2:50918400-50919600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:50918600-50918800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:50918600-50919200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr2:50918600-50919200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr2:50918600-50919200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:50918600-50919200	Active TSS	Brain Anterior Caudate	brain
19	chr2:50918600-50919200	Active TSS	Brain Cingulate Gyrus	brain
20	chr2:50918600-50919400	Active TSS	Brain Hippocampus Middle	brain
21	chr2:50918600-50919400	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr2:50918600-50919800	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr2:50918800-50919200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:50918800-50919200	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr2:50918800-50919200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:50918800-50919200	Active TSS	Brain Substantia Nigra	brain
27	chr2:50919000-50919400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr2:50919200-50919400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:50919200-50920000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:50919200-50929200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr2:50920400-50920800	Enhancers	Liver	Liver
32	chr2:50923800-50924200	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr2:50924200-50924800	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr2:50924800-50929800	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr2:50929000-50929200	Enhancers	Brain Hippocampus Middle	brain
36	chr2:50929200-50929600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:50929200-50930000	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr2:50929200-50930400	Weak transcription	Brain Hippocampus Middle	brain
39	chr2:50929400-50929800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:50929600-50930400	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr2:50929800-50930800	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr2:50930000-50935400	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr2:50930400-50930800	Enhancers	Brain Hippocampus Middle	brain
44	chr2:50930400-50934400	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr2:50930800-50941400	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr2:50934200-50935000	Enhancers	Brain Substantia Nigra	brain
47	chr2:50934400-50935000	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr2:50934400-50935000	Enhancers	Brain Germinal Matrix	brain
49	chr2:50934600-50935000	Enhancers	Fetal Brain Male	brain
50	chr2:50934800-50935000	Enhancers	Brain Anterior Caudate	brain

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