Variant report

Variant	nsv534082
Chromosome Location	chr1:144451745-144524956
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1148)
CpG islands
(count:855)
Chromatin interactive
region (count:1)
LncRNA
region (count:28)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1148 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr1:144506111-144506279	GM12878	blood:	n/a	chr1:144506225-144506236
2	BATF	chr1:144517018-144517384	GM12878	blood:	n/a	n/a
3	BATF	chr1:144521633-144522521	GM12878	blood:	n/a	n/a
4	BATF	chr1:144519521-144519990	GM12878	blood:	n/a	n/a
5	BATF	chr1:144501613-144502087	GM12878	blood:	n/a	n/a
6	BATF	chr1:144521730-144522322	GM12878	blood:	n/a	n/a
7	BATF	chr1:144509096-144509307	GM12878	blood:	n/a	n/a
8	BATF	chr1:144505988-144506367	GM12878	blood:	n/a	chr1:144506225-144506236
9	BATF	chr1:144518142-144518372	GM12878	blood:	n/a	n/a
10	BATF	chr1:144508099-144508353	GM12878	blood:	n/a	n/a
11	BATF	chr1:144507461-144507711	GM12878	blood:	n/a	n/a
12	BATF	chr1:144491160-144491907	GM12878	blood:	n/a	n/a
13	BATF	chr1:144513389-144513659	GM12878	blood:	n/a	n/a
14	BATF	chr1:144519358-144521451	GM12878	blood:	n/a	n/a
15	BATF	chr1:144520625-144520932	GM12878	blood:	n/a	n/a
16	BATF	chr1:144490944-144491993	GM12878	blood:	n/a	n/a
17	BATF	chr1:144492553-144492818	GM12878	blood:	n/a	n/a
18	BATF	chr1:144514091-144514321	GM12878	blood:	n/a	n/a
19	BATF	chr1:144503041-144503309	GM12878	blood:	n/a	n/a
20	BATF	chr1:144501231-144502049	GM12878	blood:	n/a	chr1:144501567-144501576
21	BATF	chr1:144494382-144494639	GM12878	blood:	n/a	n/a
22	BATF	chr1:144490172-144490373	GM12878	blood:	n/a	n/a
23	BATF	chr1:144509060-144509281	GM12878	blood:	n/a	n/a
24	BATF	chr1:144518896-144519120	GM12878	blood:	n/a	n/a
25	BCL11A	chr1:144491151-144491757	GM12878	blood:	n/a	chr1:144491623-144491632
26	BCL11A	chr1:144521697-144522330	GM12878	blood:	n/a	chr1:144522062-144522071
27	BCL11A	chr1:144508971-144509318	GM12878	blood:	n/a	n/a
28	BCL11A	chr1:144521627-144522519	GM12878	blood:	n/a	chr1:144522338-144522345 chr1:144522062-144522071
29	BCL11A	chr1:144503003-144503238	GM12878	blood:	n/a	n/a
30	BCL11A	chr1:144494397-144494666	GM12878	blood:	n/a	n/a
31	BCL11A	chr1:144523444-144523718	GM12878	blood:	n/a	n/a
32	BCL11A	chr1:144519476-144521443	GM12878	blood:	n/a	chr1:144520101-144520110 chr1:144520329-144520342 chr1:144520377-144520386 chr1:144520691-144520704 chr1:144520378-144520391 chr1:144521379-144521388 chr1:144521327-144521340 chr1:144521320-144521333
33	BCL11A	chr1:144515026-144515216	GM12878	blood:	n/a	n/a
34	BCL11A	chr1:144494424-144494661	GM12878	blood:	n/a	n/a
35	BCL11A	chr1:144507164-144507443	GM12878	blood:	n/a	n/a
36	BCL11A	chr1:144513343-144513579	GM12878	blood:	n/a	n/a
37	BCL11A	chr1:144492541-144492795	GM12878	blood:	n/a	n/a
38	BCL11A	chr1:144501112-144501338	GM12878	blood:	n/a	n/a
39	BCL11A	chr1:144490839-144491806	GM12878	blood:	n/a	chr1:144491623-144491632
40	BCL11A	chr1:144501244-144501475	GM12878	blood:	n/a	n/a
41	BCL11A	chr1:144506123-144506377	GM12878	blood:	n/a	n/a
42	BCL11A	chr1:144516496-144516697	GM12878	blood:	n/a	n/a
43	BCL11A	chr1:144518822-144521528	GM12878	blood:	n/a	chr1:144520101-144520110 chr1:144520329-144520342 chr1:144520377-144520386 chr1:144520691-144520704 chr1:144520378-144520391 chr1:144521379-144521388 chr1:144521327-144521340 chr1:144521320-144521333
44	BCL11A	chr1:144511264-144511562	GM12878	blood:	n/a	n/a
45	BCL11A	chr1:144518215-144518501	GM12878	blood:	n/a	n/a
46	BCL11A	chr1:144501589-144502064	GM12878	blood:	n/a	n/a
47	BCL11A	chr1:144501616-144502097	GM12878	blood:	n/a	n/a
48	BCL3	chr1:144520027-144520189	GM12878	blood:	n/a	chr1:144520101-144520110
49	BHLHE40	chr1:144520208-144520496	HepG2	liver:	n/a	chr1:144520374-144520390 chr1:144520427-144520443
50	BHLHE40	chr1:144520861-144521057	GM12878	blood:	n/a	n/a

(count:855 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:144513999-144514049	Hela-S3	cervix:	n/a
2	chr1:144513999-144514049	Hela-S3	cervix:	n/a
3	chr1:144481939-144481989	HRPEpiC	eye:	n/a
4	chr1:144485590-144485640	GM12892	blood:	n/a
5	chr1:144520156-144520206	NHBE	bronchial:	n/a
6	chr1:144519573-144519623	HRE	kidney:	n/a
7	chr1:144479586-144479636	BE2_C	brain:	n/a
8	chr1:144513999-144514049	HCM	heart:	n/a
9	chr1:144485590-144485640	Caco-2	colon:	n/a
10	chr1:144520156-144520206	HepG2	liver:	n/a
11	chr1:144520991-144521041	ProgFib	skin:	n/a
12	chr1:144519573-144519623	NH-A	brain:	n/a
13	chr1:144479586-144479636	AG04449	skin:	fetal
14	chr1:144520201-144520251	NH-A	brain:	n/a
15	chr1:144521462-144521512	ECC-1	luminal epithelium:	n/a
16	chr1:144522237-144522287	ECC-1	luminal epithelium:	n/a
17	chr1:144524229-144524279	SK-N-SH	brain:	n/a
18	chr1:144485590-144485640	GM06990	blood:	n/a
19	chr1:144520991-144521041	HPAEpiC	pulmonary alveolar:	n/a
20	chr1:144522237-144522287	K562	blood:	n/a
21	chr1:144485590-144485640	SK-N-SH_RA	brain:	n/a
22	chr1:144521462-144521512	AG10803	skin:	n/a
23	chr1:144520201-144520251	SAEC	small airway:	n/a
24	chr1:144479586-144479636	NHBE	bronchial:	n/a
25	chr1:144519573-144519623	SK-N-MC	brain:	n/a
26	chr1:144513999-144514049	SK-N-SH_RA	brain:	n/a
27	chr1:144479586-144479636	Jurkat	blood:	n/a
28	chr1:144521228-144521278	GM12878	blood:	n/a
29	chr1:144485590-144485640	Hela-S3	cervix:	n/a
30	chr1:144520156-144520206	HCT-116	colon:	n/a
31	chr1:144485590-144485640	CMK	blood:	n/a
32	chr1:144481939-144481989	A549	lung:	n/a
33	chr1:144520991-144521041	HUVEC	blood vessel:	n/a
34	chr1:144519573-144519623	HPAEpiC	pulmonary alveolar:	n/a
35	chr1:144520991-144521041	NHBE	bronchial:	n/a
36	chr1:144520201-144520251	CMK	blood:	n/a
37	chr1:144520991-144521041	LNCaP	prostate:	n/a
38	chr1:144520156-144520206	H1-hESC	embryonic stem cell:	embryo
39	chr1:144481939-144481989	GM12878	blood:	n/a
40	chr1:144522237-144522287	HAEpiC	amniotic membrane:	n/a
41	chr1:144479586-144479636	SAEC	small airway:	n/a
42	chr1:144521081-144521131	HPAEpiC	pulmonary alveolar:	n/a
43	chr1:144481939-144481989	HIPEpiC	eye:	n/a
44	chr1:144489264-144489314	HEK293	kidney:	embryo
45	chr1:144520201-144520251	HCF	heart:	n/a
46	chr1:144513999-144514049	HCF	heart:	n/a
47	chr1:144522237-144522287	PANC-1	pancreas:	n/a
48	chr1:144481939-144481989	Caco-2	colon:	n/a
49	chr1:144513999-144514049	PrEC	prostate:	n/a
50	chr1:144513999-144514049	HRE	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:144519367..144521165-chr1:144533246..144535069,2	K562	blood:

(count:28 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPIAL4B-2	chr1:144506277-144506436	ENSG00000236943.1
2	lnc-PPIAL4B-2	chr1:144520774-144520919	ENSG00000236943.1
3	lnc-PPIAL4B-5	chr1:144475088-144475533	predAs_chen_AA985444_1
4	lnc-PPIAL4B-2	chr1:144506091-144506436	ENSG00000236943.1
5	lnc-PPIAL4B-2	chr1:144480746-144480984	NONHSAT005803
6	lnc-PPIAL4B-2	chr1:144481627-144481765	ENSG00000236943.1
7	lnc-PPIAL4B-2	chr1:144461309-144461412	ENSG00000236943.1
8	lnc-PPIAL4B-2	chr1:144521884-144521970	ENSG00000236943.1
9	lnc-PPIAL4B-2	chr1:144520774-144521002	ENSG00000236943.1
10	lnc-PPIAL4B-2	chr1:144516478-144516503	ENSG00000236943.1
11	lnc-PPIAL4B-2	chr1:144460973-144461111	ENSG00000236943.1
12	lnc-PPIAL4B-2	chr1:144521884-144521969	NONHSAT005803
13	lnc-PPIAL4B-2	chr1:144480744-144481765	ENSG00000236943.1
14	lnc-PPIAL4B-2	chr1:144481419-144481765	NONHSAT005803
15	lnc-PPIAL4B-2	chr1:144521639-144522054	NONHSAT005811
16	lnc-PPIAL4B-2	chr1:144460626-144460872	ENSG00000236943.1
17	lnc-PPIAL4B-2	chr1:144520774-144520871	ENSG00000236943.1
18	lnc-PPIAL4B-2	chr1:144520774-144520871	NONHSAT005803
19	lnc-PPIAL4B-2	chr1:144520774-144520993	ENSG00000236943.1
20	lnc-PPIAL4B-2	chr1:144514874-144519720	NONHSAT005809
21	lnc-PPIAL4B-2	chr1:144520774-144520983	ENSG00000236943.1
22	lnc-PPIAL4B-2	chr1:144519813-144519867	ENSG00000236943.1
23	lnc-PPIAL4B-2	chr1:144481419-144481765	ENSG00000236943.1
24	lnc-PPIAL4B-2	chr1:144505804-144505925	ENSG00000236943.1
25	lnc-PPIAL4B-2	chr1:144480741-144480984	ENSG00000236943.1
26	lnc-PPIAL4B-2	chr1:144506277-144506436	ENSG00000236943.1
27	lnc-PPIAL4B-2	chr1:144520774-144520841	ENSG00000236943.1
28	lnc-PPIAL4B-2	chr1:144516419-144516729	ENSG00000236943.1

No data

Variant related genes	Relation type
RNVU1-5	TF binding region
ENSG00000236943	TF binding region
RNVU1-5	CpG island
ENSG00000236943	CpG island
ENSG00000201699	chromatin interactions

Extended variants
information (count: 278 )
Associated
traits (count: 169 )

Variant overlapped rSNPs/rCNVs (count:278 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587749648	chr1:144461391-144461392	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs202175219	chr1:144462256-144462257	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs199614711	chr1:144462560-144462561	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs200791081	chr1:144462599-144462600	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs201731836	chr1:144462623-144462624	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs199525959	chr1:144462800-144462801	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs200080124	chr1:144462803-144462804	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs587640545	chr1:144462870-144462871	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs200520974	chr1:144462879-144462880	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs200065566	chr1:144462907-144462908	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs587718557	chr1:144462953-144462954	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs201510313	chr1:144462975-144462976	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs201069886	chr1:144463314-144463315	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs587595647	chr1:144475210-144475211	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs370609531	chr1:144475230-144475231	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs587670252	chr1:144475239-144475240	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs371232376	chr1:144475420-144475421	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs587699441	chr1:144475437-144475438	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs376158718	chr1:144475474-144475475	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs200465849	chr1:144480794-144480795	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs376417394	chr1:144481110-144481111	Active TSS Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
22	rs587775534	chr1:144481182-144481183	Active TSS Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
23	rs116180770	chr1:144481200-144481201	Active TSS Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	mRNA abundance
24	rs587662116	chr1:144481219-144481220	Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs587719553	chr1:144481233-144481234	Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs139706301	chr1:144481235-144481236	Active TSS Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs200307645	chr1:144483423-144483424	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs187648996	chr1:144485616-144485617	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
29	rs372443997	chr1:144491691-144491692	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs587639730	chr1:144491937-144491938	Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs587723604	chr1:144491964-144491965	Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs587773470	chr1:144492766-144492767	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs587626825	chr1:144492824-144492825	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs587690275	chr1:144492840-144492841	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs376349822	chr1:144493626-144493627	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs3009807	chr1:144494054-144494055	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs2923190	chr1:144494824-144494825	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs56334001	chr1:144494862-144494863	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs2994171	chr1:144495026-144495027	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs200917218	chr1:144495498-144495499	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs7414954	chr1:144495549-144495550	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs587746460	chr1:144495555-144495556	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs7417211	chr1:144495604-144495605	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs7416255	chr1:144495614-144495615	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs7415421	chr1:144495747-144495748	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs376810194	chr1:144495818-144495819	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
47	rs61802348	chr1:144506182-144506183	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs61802349	chr1:144506283-144506284	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs557084	chr1:144506348-144506349	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs144944932	chr1:144507306-144507307	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:169)

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
Chronic lymphocytic leukemia	20421269	CNVD
Chronic lymphocytic leukemia	21546498	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
Williams Syndrome	20824207	CNVD
Tetralogy of Fallot	22912587	CNVD
Autism	18522746	CNVD
Schizophrenia	23813976	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Schizophrenia	19197363	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Schizophrenia	20967226	CNVD
Autism	20841430	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD
idiopathic generalized epilepsy	19843651	CNVD
Schizophrenia	19843651	CNVD
Cancer	17440070	CNVD

Chromatin state (count:259 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:144481000-144481200	ZNF genes & repeats	Lung	lung
2	chr1:144481000-144481400	Active TSS	H1 Cell Line	embryonic stem cell
3	chr1:144481000-144481400	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr1:144481000-144481400	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr1:144481000-144481400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:144481000-144481400	Active TSS	Primary T cells fromperipheralblood	blood
7	chr1:144481000-144481400	Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr1:144481000-144481400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:144481000-144481400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:144481000-144481400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:144481000-144481400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:144481000-144481400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:144481000-144481400	Active TSS	Brain Germinal Matrix	brain
14	chr1:144481000-144481400	Active TSS	Fetal Brain Female	brain
15	chr1:144481000-144481400	Active TSS	Fetal Intestine Small	intestine
16	chr1:144481000-144481400	Active TSS	Thymus	Thymus
17	chr1:144481000-144481400	Active TSS	Monocytes-CD14+_RO01746	blood
18	chr1:144491800-144492200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:144491800-144492200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:144491800-144492200	Active TSS	Fetal Thymus	thymus
21	chr1:144491800-144492200	Active TSS	Monocytes-CD14+_RO01746	blood
22	chr1:144491800-144492200	Active TSS	Osteobl	bone
23	chr1:144507200-144507600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr1:144507200-144507600	Enhancers	Fetal Intestine Small	intestine
25	chr1:144507400-144507600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr1:144517600-144518200	Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr1:144517600-144518200	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr1:144517600-144518400	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr1:144517600-144518400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr1:144517600-144518600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr1:144517800-144518000	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr1:144517800-144518200	Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr1:144517800-144518400	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr1:144517800-144518600	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr1:144518000-144519200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr1:144518200-144518400	Enhancers	H1 Cell Line	embryonic stem cell
37	chr1:144518200-144518400	Enhancers	H9 Cell Line	embryonic stem cell
38	chr1:144518200-144518400	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr1:144518200-144518400	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr1:144518200-144518400	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr1:144518200-144518400	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr1:144518200-144518400	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr1:144518200-144518400	Enhancers	Primary B cells from cord blood	blood
44	chr1:144518200-144518400	Enhancers	Primary B cells from peripheral blood	blood
45	chr1:144518200-144518400	Enhancers	Primary T cells from cord blood	blood
46	chr1:144518200-144518400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr1:144518200-144518400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr1:144518200-144518400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr1:144518200-144518400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr1:144518200-144518400	Enhancers	Primary T killer naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links