Variant report

Variant	nsv946754
Chromosome Location	chr1:145292857-145309765
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:577)
CpG islands
(count:122)
Chromatin interactive
region (count:3)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:577 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:145293424-145293644	K562	blood:	n/a	n/a
2	ATF1	chr1:145293304-145293510	K562	blood:	n/a	n/a
3	BATF	chr1:145304760-145305106	GM12878	blood:	n/a	n/a
4	BATF	chr1:145299644-145300057	GM12878	blood:	n/a	n/a
5	BATF	chr1:145297112-145297381	GM12878	blood:	n/a	n/a
6	BATF	chr1:145296892-145297102	GM12878	blood:	n/a	n/a
7	BATF	chr1:145304748-145305052	GM12878	blood:	n/a	n/a
8	BATF	chr1:145293025-145293677	GM12878	blood:	n/a	n/a
9	BATF	chr1:145296560-145296816	GM12878	blood:	n/a	n/a
10	BATF	chr1:145293193-145293698	GM12878	blood:	n/a	n/a
11	BCL11A	chr1:145304809-145304968	GM12878	blood:	n/a	n/a
12	BCL11A	chr1:145292765-145293754	GM12878	blood:	n/a	n/a
13	BCL11A	chr1:145297159-145297370	GM12878	blood:	n/a	n/a
14	BCL11A	chr1:145292839-145293229	GM12878	blood:	n/a	n/a
15	BCL11A	chr1:145299433-145299718	GM12878	blood:	n/a	n/a
16	BCL11A	chr1:145298382-145298544	GM12878	blood:	n/a	n/a
17	BCL11A	chr1:145296860-145297100	GM12878	blood:	n/a	n/a
18	BHLHE40	chr1:145293360-145293704	HepG2	liver:	n/a	n/a
19	BHLHE40	chr1:145296867-145297099	HepG2	liver:	n/a	n/a
20	BHLHE40	chr1:145293422-145293619	GM12878	blood:	n/a	n/a
21	BHLHE40	chr1:145299726-145300063	HepG2	liver:	n/a	n/a
22	CEBPB	chr1:145296274-145296388	HepG2	liver:	n/a	n/a
23	CTCF	chr1:145293340-145293490	HBMEC	blood vessel:	n/a	n/a
24	CTCF	chr1:145293360-145293510	GM12866	blood:	n/a	n/a
25	CTCF	chr1:145293360-145293510	HAc	cerebellar:	n/a	n/a
26	CTCF	chr1:145293740-145293890	HPF	lung:	n/a	n/a
27	CTCF	chr1:145293234-145293551	HepG2	liver:	n/a	n/a
28	CTCF	chr1:145293300-145293543	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr1:145293340-145293490	HMF	breast:	n/a	n/a
30	CTCF	chr1:145299809-145299933	Gliobla	brain:	n/a	n/a
31	CTCF	chr1:145299508-145300124	A549	lung:	n/a	n/a
32	CTCF	chr1:145299820-145299970	HFF-Myc	foreskin:	n/a	n/a
33	CTCF	chr1:145293680-145293830	HCM	heart:	n/a	n/a
34	CTCF	chr1:145293000-145293150	GM12878	blood:	n/a	n/a
35	CTCF	chr1:145299582-145300038	K562	blood:	n/a	n/a
36	CTCF	chr1:145293374-145293591	Medullo	brain:	n/a	n/a
37	CTCF	chr1:145293402-145293502	MCF-7	breast:	n/a	n/a
38	CTCF	chr1:145293740-145293890	NHDF-neo	bronchial:	n/a	n/a
39	CTCF	chr1:145293700-145293850	NHDF-neo	bronchial:	n/a	n/a
40	CTCF	chr1:145293360-145293510	NHDF-neo	bronchial:	n/a	n/a
41	CTCF	chr1:145293340-145293490	NHEK	skin:	n/a	n/a
42	CTCF	chr1:145293391-145293551	GM12892	blood:	n/a	n/a
43	CTCF	chr1:145299763-145299944	LNCaP	prostate:	n/a	n/a
44	CTCF	chr1:145299840-145299922	Lung_OC	lung:	n/a	n/a
45	CTCF	chr1:145293340-145293490	GM12878	blood:	n/a	n/a
46	CTCF	chr1:145293720-145293870	GM12872	blood:	n/a	n/a
47	CTCF	chr1:145299809-145300044	A549	lung:	n/a	n/a
48	CTCF	chr1:145293340-145293490	HRPEpiC	eye:	n/a	n/a
49	CTCF	chr1:145293401-145293545	GM19238	blood:	n/a	n/a
50	CTCF	chr1:145299690-145300092	A549	lung:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:145301948-145301998	HCF	heart:	n/a
2	chr1:145302551-145302601	SK-N-SH_RA	brain:	n/a
3	chr1:145302551-145302601	HepG2	liver:	n/a
4	chr1:145302551-145302601	HRCEpiC	kidney:	n/a
5	chr1:145301948-145301998	BJ	skin:	n/a
6	chr1:145301948-145301998	U87	brain:	n/a
7	chr1:145302551-145302601	Hepatocyte	liver:	n/a
8	chr1:145301948-145301998	MCF-7	breast:	n/a
9	chr1:145302551-145302601	AoSMC	blood vessel:	n/a
10	chr1:145302551-145302601	SK-N-MC	brain:	n/a
11	chr1:145301948-145301998	HCM	heart:	n/a
12	chr1:145302551-145302601	Hela-S3	cervix:	n/a
13	chr1:145301948-145301998	GM12892	blood:	n/a
14	chr1:145301948-145301998	NB4	blood:	n/a
15	chr1:145302551-145302601	HNPCEpiC	eye:	n/a
16	chr1:145301948-145301998	PrEC	prostate:	n/a
17	chr1:145302551-145302601	HAEpiC	amniotic membrane:	n/a
18	chr1:145302551-145302601	LNCaP	prostate:	n/a
19	chr1:145301948-145301998	SK-N-SH_RA	brain:	n/a
20	chr1:145301948-145301998	HUVEC	blood vessel:	n/a
21	chr1:145301948-145301998	ProgFib	skin:	n/a
22	chr1:145302551-145302601	AG10803	skin:	n/a
23	chr1:145301948-145301998	PANC-1	pancreas:	n/a
24	chr1:145301948-145301998	MCF10A-Er-Src	breast:	n/a
25	chr1:145302551-145302601	MCF-7	breast:	n/a
26	chr1:145302551-145302601	PFSK-1	brain:	n/a
27	chr1:145301948-145301998	HMEC	breast:	n/a
28	chr1:145301948-145301998	AG04450	lung:	fetal
29	chr1:145301948-145301998	NHDF-neo	bronchial:	n/a
30	chr1:145302551-145302601	HEK293	kidney:	embryo
31	chr1:145302551-145302601	GM19239	blood:	n/a
32	chr1:145302551-145302601	NT2-D1	testis:	n/a
33	chr1:145302551-145302601	NHDF-neo	bronchial:	n/a
34	chr1:145302551-145302601	RPTEC	kidney:	n/a
35	chr1:145301948-145301998	CMK	blood:	n/a
36	chr1:145302551-145302601	SKMC	muscle:	n/a
37	chr1:145302551-145302601	AG04450	lung:	fetal
38	chr1:145301948-145301998	SAEC	small airway:	n/a
39	chr1:145301948-145301998	SKMC	muscle:	n/a
40	chr1:145301948-145301998	RPTEC	kidney:	n/a
41	chr1:145301948-145301998	NH-A	brain:	n/a
42	chr1:145301948-145301998	HEK293	kidney:	embryo
43	chr1:145301948-145301998	HIPEpiC	eye:	n/a
44	chr1:145301948-145301998	T-47D	breast:	n/a
45	chr1:145301948-145301998	AG09309	skin:	n/a
46	chr1:145302551-145302601	PrEC	prostate:	n/a
47	chr1:145302551-145302601	GM06990	blood:	n/a
48	chr1:145302551-145302601	NB4	blood:	n/a
49	chr1:145302551-145302601	HPAEpiC	pulmonary alveolar:	n/a
50	chr1:145302551-145302601	K562	blood:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:145288943..145293306-chr1:149221737..149224658,6	MCF-7	breast:
2	chr1:145208945..145211572-chr1:145290799..145293780,3	MCF-7	breast:
3	chr1:145291510..145293949-chr1:149222418..149224230,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NOTCH2NL-2	chr1:145305945-145305996	NR_104217
2	lnc-NOTCH2NL-2	chr1:145302649-145302868	NR_104217
3	lnc-NOTCH2NL-2	chr1:145301720-145301817	NR_104217
4	lnc-NOTCH2NL-2	chr1:145303910-145303982	NR_104217
5	lnc-NOTCH2NL-2	chr1:145293371-145293580	NR_104217
6	lnc-NOTCH2NL-2	chr1:145304447-145304652	NR_104217

No data

Variant related genes	Relation type
NBPF10	TF binding region
NBPF10	CpG island
ENSG00000213240	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000255168	chromatin interactions

Extended variants
information (count: 889 )
Associated
traits (count: 168 )

Variant overlapped rSNPs/rCNVs (count:889 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375275410	chr1:145292895-145292896	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs12033557	chr1:145292900-145292901	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs3926770	chr1:145292913-145292914	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs6424351	chr1:145292925-145292926	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs145781959	chr1:145292942-145292943	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs141371681	chr1:145292943-145292944	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs587594410	chr1:145292973-145292974	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs370508225	chr1:145293001-145293002	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs6424352	chr1:145293012-145293013	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs55982087	chr1:145293014-145293015	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs3872114	chr1:145293059-145293060	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs4500262	chr1:145293069-145293070	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs587651047	chr1:145293110-145293111	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs12029439	chr1:145293116-145293117	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs587708058	chr1:145293124-145293125	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs7366463	chr1:145293128-145293129	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs6680814	chr1:145293204-145293205	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs61350760	chr1:145293269-145293270	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs4525095	chr1:145293274-145293275	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs57959950	chr1:145293308-145293309	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs587609396	chr1:145293350-145293351	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs587663314	chr1:145293355-145293356	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs587733114	chr1:145293356-145293357	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs57737331	chr1:145293400-145293401	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
25	rs7366490	chr1:145293425-145293426	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
26	rs199928078	chr1:145293428-145293429	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
27	rs60398273	chr1:145293435-145293436	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
28	rs6671324	chr1:145293469-145293470	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
29	rs57489144	chr1:145293473-145293474	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
30	rs6671335	chr1:145293490-145293491	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
31	rs4409714	chr1:145293498-145293499	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
32	rs4356110	chr1:145293510-145293511	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
33	rs12565078	chr1:145293515-145293516	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
34	rs587603994	chr1:145293527-145293528	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
35	rs55936365	chr1:145293535-145293536	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
36	rs7526045	chr1:145293566-145293567	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
37	rs587666708	chr1:145293653-145293654	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs6689039	chr1:145293667-145293668	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs10910788	chr1:145293683-145293684	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs7526143	chr1:145293692-145293693	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs56219506	chr1:145293750-145293751	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs587740237	chr1:145293767-145293768	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs587641880	chr1:145293772-145293773	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs587721582	chr1:145293779-145293780	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs587758289	chr1:145293825-145293826	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs7539630	chr1:145293826-145293827	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs587654174	chr1:145293830-145293831	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs7367412	chr1:145293864-145293865	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs12076238	chr1:145293866-145293867	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs12077504	chr1:145293873-145293874	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:168)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Neuroblastoma	21124317	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	20970697	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Addison''s disease	21851588	CNVD
Heart disease	22199024	CNVD
Mental retardation	19951919	CNVD
Ovarian cancer	20844748	CNVD
Schizophrenia	21399695	CNVD
Prostate cancer	17217626	CNVD
Congenital heart defect	22199024	CNVD
TAR Syndrome	17847015	CNVD
Thrombocytopenia-absent radius syndrome	17236129	CNVD
Autism	18784092	CNVD
Congenital abnormalities	18784092	CNVD
Mental retardation	18784092	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	19521722	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	19521646	CNVD
Neuroblastoma	19536264	CNVD
Epilepsy	20923578	CNVD
Mental retardation	17124404	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18668039	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19571808	CNVD
Velocardiofacial syndrome	19329560	CNVD
Autism	19955444	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Colorectal cancer	20459617	CNVD
Osteosarcoma	19286668	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	17142309	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21509527	CNVD
Tetralogy of Fallot	22912587	CNVD
Bladder cancer	21909424	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	20729466	CNVD
Schizophrenia	19197363	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Schizophrenia	23813976	CNVD
Lung adenocarcinoma	21935476	CNVD
idiopathic generalized epilepsy	19843651	CNVD
Schizophrenia	19843651	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Autism	20531469	CNVD
Autism	20858243	CNVD
Autism	22543975	CNVD
Epilepsy	20502679	CNVD
Autism	20841430	CNVD
Developmental delay	20808231	CNVD
Obesity	20808231	CNVD
Autism	20808228	CNVD
Autism	22102821	CNVD

Chromatin state (count:634 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:145277600-145293800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr1:145277600-145305400	Weak transcription	HepG2	liver
3	chr1:145277800-145296400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:145277800-145323400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:145281600-145296400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:145281800-145297800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:145281800-145298600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:145282000-145325400	Weak transcription	Fetal Brain Female	brain
9	chr1:145282400-145293200	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr1:145283000-145318600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:145283400-145298600	Weak transcription	A549	lung
12	chr1:145283800-145293600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:145283800-145293800	Weak transcription	HUVEC	blood vessel
14	chr1:145283800-145311200	Weak transcription	Stomach Mucosa	stomach
15	chr1:145286800-145304000	Weak transcription	K562	blood
16	chr1:145289000-145294000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr1:145289600-145293000	Strong transcription	Fetal Muscle Trunk	muscle
18	chr1:145289600-145293000	Strong transcription	Dnd41	blood
19	chr1:145289600-145295000	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr1:145289600-145300200	Weak transcription	Fetal Brain Male	brain
21	chr1:145289800-145293000	Strong transcription	Placenta	Placenta
22	chr1:145289800-145294800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:145289800-145294800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr1:145290000-145293000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr1:145290000-145293000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr1:145290000-145294600	Strong transcription	Stomach Smooth Muscle	stomach
27	chr1:145290000-145298800	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr1:145290200-145293200	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr1:145290200-145295000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:145290400-145293000	Strong transcription	Fetal Thymus	thymus
31	chr1:145290400-145294800	Strong transcription	NHEK	skin
32	chr1:145290600-145293200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr1:145290600-145296400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr1:145290800-145293000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:145290800-145293200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr1:145290800-145293200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:145290800-145293200	Strong transcription	Muscle Satellite Cultured Cells	--
38	chr1:145290800-145293200	Weak transcription	Right Atrium	heart
39	chr1:145290800-145294800	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr1:145290800-145294800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:145290800-145296200	Weak transcription	Brain Hippocampus Middle	brain
42	chr1:145290800-145298200	Strong transcription	Osteobl	bone
43	chr1:145290800-145303800	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr1:145290800-145313800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr1:145290800-145323400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:145290800-145328000	Weak transcription	Small Intestine	intestine
47	chr1:145291000-145293200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:145291000-145293200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr1:145291000-145293200	Weak transcription	Brain Cingulate Gyrus	brain
50	chr1:145291000-145294000	Strong transcription	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links