Variant report

Variant	nsv482813
Chromosome Location	chr1:145142707-145288416
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2405)
CpG islands
(count:610)
Chromatin interactive
region (count:37)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2405 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:145208951-145209121	K562	blood:	n/a	chr1:145209007-145209015
2	ARID3A	chr1:145208929-145209290	HepG2	liver:	n/a	chr1:145209007-145209015
3	ARID3A	chr1:145246167-145246562	HepG2	liver:	n/a	n/a
4	ARID3A	chr1:145254404-145254507	K562	blood:	n/a	n/a
5	ARID3A	chr1:145253698-145253898	K562	blood:	n/a	n/a
6	ATF1	chr1:145254447-145254481	K562	blood:	n/a	n/a
7	ATF1	chr1:145208937-145209133	K562	blood:	n/a	n/a
8	ATF1	chr1:145195978-145196042	K562	blood:	n/a	n/a
9	ATF1	chr1:145216140-145216326	K562	blood:	n/a	n/a
10	ATF2	chr1:145159486-145159715	GM12878	blood:	n/a	n/a
11	ATF2	chr1:145208822-145209212	GM12878	blood:	n/a	n/a
12	ATF2	chr1:145233655-145233883	GM12878	blood:	n/a	n/a
13	ATF3	chr1:145208814-145209112	A549	lung:	n/a	n/a
14	ATF3	chr1:145208827-145209217	A549	lung:	n/a	n/a
15	BACH1	chr1:145254231-145254659	K562	blood:	n/a	n/a
16	BACH1	chr1:145254230-145254652	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr1:145208936-145209146	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr1:145253854-145253876	K562	blood:	n/a	n/a
19	BATF	chr1:145219743-145220000	GM12878	blood:	n/a	n/a
20	BATF	chr1:145233237-145234045	GM12878	blood:	n/a	n/a
21	BATF	chr1:145154309-145155270	GM12878	blood:	n/a	n/a
22	BATF	chr1:145159059-145159858	GM12878	blood:	n/a	n/a
23	BATF	chr1:145189103-145189407	GM12878	blood:	n/a	n/a
24	BATF	chr1:145233198-145234079	GM12878	blood:	n/a	n/a
25	BATF	chr1:145212132-145212476	GM12878	blood:	n/a	n/a
26	BATF	chr1:145277151-145277624	GM12878	blood:	n/a	n/a
27	BATF	chr1:145234968-145235329	GM12878	blood:	n/a	n/a
28	BATF	chr1:145208490-145209291	GM12878	blood:	n/a	chr1:145209134-145209142
29	BATF	chr1:145154286-145155318	GM12878	blood:	n/a	n/a
30	BATF	chr1:145281369-145281733	GM12878	blood:	n/a	n/a
31	BATF	chr1:145210057-145210394	GM12878	blood:	n/a	n/a
32	BATF	chr1:145277155-145277522	GM12878	blood:	n/a	n/a
33	BATF	chr1:145234411-145234753	GM12878	blood:	n/a	n/a
34	BATF	chr1:145195914-145196301	GM12878	blood:	n/a	n/a
35	BATF	chr1:145153039-145153342	GM12878	blood:	n/a	n/a
36	BATF	chr1:145234955-145235323	GM12878	blood:	n/a	n/a
37	BATF	chr1:145171479-145171789	GM12878	blood:	n/a	n/a
38	BATF	chr1:145260188-145260447	GM12878	blood:	n/a	n/a
39	BATF	chr1:145210075-145210284	GM12878	blood:	n/a	n/a
40	BATF	chr1:145218967-145219192	GM12878	blood:	n/a	chr1:145218977-145218990
41	BATF	chr1:145231709-145232035	GM12878	blood:	n/a	n/a
42	BATF	chr1:145159043-145159865	GM12878	blood:	n/a	n/a
43	BATF	chr1:145259491-145259713	GM12878	blood:	n/a	chr1:145259620-145259631
44	BATF	chr1:145285189-145285435	GM12878	blood:	n/a	n/a
45	BATF	chr1:145209382-145209998	GM12878	blood:	n/a	n/a
46	BATF	chr1:145210338-145210530	GM12878	blood:	n/a	n/a
47	BATF	chr1:145212001-145212472	GM12878	blood:	n/a	n/a
48	BATF	chr1:145152894-145153398	GM12878	blood:	n/a	n/a
49	BATF	chr1:145213599-145213876	GM12878	blood:	n/a	n/a
50	BCL11A	chr1:145209644-145210243	GM12878	blood:	n/a	chr1:145209689-145209702

(count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:145209830-145209880	HL-60	blood:	n/a
2	chr1:145209236-145209286	Hela-S3	cervix:	n/a
3	chr1:145205174-145205224	MCF10A-Er-Src	breast:	n/a
4	chr1:145209830-145209880	HCM	heart:	n/a
5	chr1:145209830-145209880	HIPEpiC	eye:	n/a
6	chr1:145208980-145209030	HCT-116	colon:	n/a
7	chr1:145207943-145207993	GM19239	blood:	n/a
8	chr1:145210014-145210064	Caco-2	colon:	n/a
9	chr1:145213338-145213388	AG04449	skin:	fetal
10	chr1:145211389-145211439	LNCaP	prostate:	n/a
11	chr1:145250914-145250964	MCF10A-Er-Src	breast:	n/a
12	chr1:145213338-145213388	NT2-D1	testis:	n/a
13	chr1:145209830-145209880	MCF10A-Er-Src	breast:	n/a
14	chr1:145207943-145207993	Hepatocyte	liver:	n/a
15	chr1:145207943-145207993	NHDF-neo	bronchial:	n/a
16	chr1:145213338-145213388	HIPEpiC	eye:	n/a
17	chr1:145207943-145207993	HRE	kidney:	n/a
18	chr1:145205174-145205224	AoSMC	blood vessel:	n/a
19	chr1:145209236-145209286	SK-N-SH	brain:	n/a
20	chr1:145210014-145210064	HAEpiC	amniotic membrane:	n/a
21	chr1:145208980-145209030	AG04450	lung:	fetal
22	chr1:145211389-145211439	HCPEpiC	choroid plexus:	n/a
23	chr1:145209236-145209286	ProgFib	skin:	n/a
24	chr1:145250914-145250964	HL-60	blood:	n/a
25	chr1:145207943-145207993	HCF	heart:	n/a
26	chr1:145209830-145209880	ovcar-3	ovarian:	n/a
27	chr1:145213338-145213388	GM12891	blood:	n/a
28	chr1:145210014-145210064	HIPEpiC	eye:	n/a
29	chr1:145210014-145210064	GM12878	blood:	n/a
30	chr1:145205174-145205224	HCF	heart:	n/a
31	chr1:145210014-145210064	NT2-D1	testis:	n/a
32	chr1:145209236-145209286	RPTEC	kidney:	n/a
33	chr1:145209930-145209980	HCM	heart:	n/a
34	chr1:145209236-145209286	AG04449	skin:	fetal
35	chr1:145211389-145211439	HRCEpiC	kidney:	n/a
36	chr1:145213338-145213388	HRCEpiC	kidney:	n/a
37	chr1:145209830-145209880	SK-N-SH	brain:	n/a
38	chr1:145209930-145209980	HCF	heart:	n/a
39	chr1:145213338-145213388	ovcar-3	ovarian:	n/a
40	chr1:145250914-145250964	HCPEpiC	choroid plexus:	n/a
41	chr1:145209236-145209286	IMR90	lung:	fetal
42	chr1:145250914-145250964	NH-A	brain:	n/a
43	chr1:145213338-145213388	AG10803	skin:	n/a
44	chr1:145209830-145209880	MCF-7	breast:	n/a
45	chr1:145211389-145211439	SK-N-SH_RA	brain:	n/a
46	chr1:145213338-145213388	SAEC	small airway:	n/a
47	chr1:145209930-145209980	HRPEpiC	eye:	n/a
48	chr1:145250914-145250964	PANC-1	pancreas:	n/a
49	chr1:145250914-145250964	AoSMC	blood vessel:	n/a
50	chr1:145250914-145250964	SK-N-SH_RA	brain:	n/a

(count:37 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:145208214..145210170-chr1:145381446..145384467,3	MCF-7	breast:
2	chr1:120602747..120604407-chr1:145216153..145218112,2	MCF-7	breast:
3	chr1:120555279..120557791-chr1:145264672..145267612,3	K562	blood:
4	chr1:120574754..120575346-chr1:145245858..145246575,2	MCF-7	breast:
5	chr1:145207909..145210605-chr1:145214441..145216644,2	MCF-7	breast:
6	chr1:120611825..120612753-chr1:145208933..145209629,3	Hela-S3	cervix:
7	chr1:145209435..145210070-chr1:145293272..145293941,2	MCF-7	breast:
8	chr1:145209043..145210611-chr1:149222292..149224968,3	MCF-7	breast:
9	chr1:145208945..145211572-chr1:145290799..145293780,3	MCF-7	breast:
10	chr1:145238836..145241577-chr1:145243504..145245771,2	K562	blood:
11	chr1:145209779..145211659-chr1:145381647..145384503,2	MCF-7	breast:
12	chr1:145193254..145195284-chr1:145382712..145384267,2	MCF-7	breast:
13	chr1:120565033..120566748-chr1:145252742..145255259,2	MCF-7	breast:
14	chr1:120533140..120534660-chr1:145287386..145288888,2	MCF-7	breast:
15	chr1:120611958..120612515-chr1:145208972..145209639,2	NB4	blood:
16	chr1:145258606..145260477-chr1:145381662..145384269,2	MCF-7	breast:
17	chr1:120611941..120612674-chr1:145209107..145209637,6	MCF-7	breast:
18	chr1:120610094..120613669-chr1:145207447..145211087,11	MCF-7	breast:
19	chr1:120611803..120612535-chr1:145208972..145209627,6	MCF-7	breast:
20	chr1:145287740..145289244-chr18:67226861..67228381,2	MCF-7	breast:
21	chr1:145209931..145210445-chr19:58874333..58874839,2	Hela-S3	cervix:
22	chr1:145238836..145241577-chr1:145243504..145245771,2	K562	blood:
23	chr1:145209133..145210911-chr1:145213297..145216185,2	MCF-7	breast:
24	chr1:120610124..120613523-chr1:145208226..145211226,7	MCF-7	breast:
25	chr1:120561821..120563990-chr1:145256491..145258504,4	MCF-7	breast:
26	chr1:120562041..120564945-chr1:145257130..145258905,2	K562	blood:
27	chr1:145257082..145259251-chr1:145260108..145261925,2	MCF-7	breast:
28	chr1:120576520..120578439-chr1:145242059..145244929,2	MCF-7	breast:
29	chr1:120606120..120607638-chr1:145207438..145208952,2	MCF-7	breast:
30	chr1:120562393..120564845-chr1:145256114..145258582,3	MCF-7	breast:
31	chr1:145210633..145213326-chr1:149222498..149224954,2	MCF-7	breast:
32	chr1:145257082..145259251-chr1:145260108..145261925,2	MCF-7	breast:
33	chr1:145264618..145267295-chr1:145381743..145384010,2	K562	blood:
34	chr1:53163301..53163992-chr1:145209547..145210339,2	Hela-S3	cervix:
35	chr1:120573750..120576750-chr1:145244417..145247281,4	MCF-7	breast:
36	chr1:145246366..145248846-chr1:149222454..149225152,2	MCF-7	breast:
37	chr1:145110521..145113203-chr1:145271699..145274224,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PDE4DIP-6	chr1:145200338-145200891	ENSG00000272709.1
2	lnc-NBPF10-1	chr1:145213108-145213374	expReg_chr1_15650_+

No data

Variant related genes	Relation type
ENSG00000272709	TF binding region
NUDT4P1	TF binding region
NOTCH2NL	TF binding region
ENSG00000255168	TF binding region
NBPF10	TF binding region
RNU6-1071P	TF binding region
ENSG00000272709	CpG island
NUDT4P1	CpG island
NOTCH2NL	CpG island
ENSG00000255168	CpG island
NBPF10	CpG island
RNU6-1071P	CpG island
ENSG00000134250	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000233396	chromatin interactions
ENSG00000213240	chromatin interactions
ENSG00000162377	chromatin interactions
ENSG00000252211	chromatin interactions
ENSG00000255168	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000163386	chromatin interactions

Extended variants
information (count: 4010 )
Associated
traits (count: 170 )

Variant overlapped rSNPs/rCNVs (count:4010 , 50 per page) page: 1 2 3 4 5 6 7 ... 81

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587618894	chr1:145142725-145142726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs587682373	chr1:145142781-145142782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs587756618	chr1:145142788-145142789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs587640696	chr1:145142820-145142821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2793996	chr1:145142826-145142827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs587720651	chr1:145142859-145142860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs587753716	chr1:145142877-145142878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs587651012	chr1:145142879-145142880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs587705607	chr1:145142962-145142963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs587610616	chr1:145143133-145143134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs587657570	chr1:145143147-145143148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs587721047	chr1:145143177-145143178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs587599624	chr1:145143201-145143202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs587701090	chr1:145143205-145143206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs587756240	chr1:145143273-145143274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs587654002	chr1:145143278-145143279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs587691080	chr1:145143350-145143351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs587723969	chr1:145143425-145143426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs587624115	chr1:145143456-145143457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs587676391	chr1:145143531-145143532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs2603892	chr1:145143536-145143537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2603891	chr1:145143580-145143581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs587765201	chr1:145143601-145143602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs587616253	chr1:145143623-145143624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs587698058	chr1:145143672-145143673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs587755620	chr1:145143704-145143705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs587654852	chr1:145143727-145143728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs587708756	chr1:145143755-145143756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs587763038	chr1:145143788-145143789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs2793995	chr1:145143803-145143804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs111636320	chr1:145143823-145143824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76214403	chr1:145143855-145143856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs587719756	chr1:145143860-145143861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs587619193	chr1:145143882-145143883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs369033152	chr1:145143893-145143894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs587678457	chr1:145143912-145143913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs587733949	chr1:145143973-145143974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs587594716	chr1:145144072-145144073	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs587663609	chr1:145144112-145144113	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs143185006	chr1:145144117-145144118	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs587727373	chr1:145144154-145144155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs587602987	chr1:145144253-145144254	Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs199799607	chr1:145144309-145144310	Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs369255389	chr1:145144352-145144353	Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs375229001	chr1:145144354-145144355	Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs71664047	chr1:145144383-145144384	Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs587662535	chr1:145144430-145144431	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs587738281	chr1:145144445-145144446	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs3936475	chr1:145144473-145144474	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs587618243	chr1:145144488-145144489	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:170)

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
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:4476 , 50 per page) page: 1 2 3 4 5 6 7 ... 90

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:145139600-145143400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr1:145140000-145144200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr1:145140000-145144200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr1:145140000-145144400	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr1:145140000-145144400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:145140200-145143600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:145140200-145144000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:145140200-145144000	Weak transcription	Primary B cells from peripheral blood	blood
9	chr1:145140200-145144000	Weak transcription	Fetal Intestine Large	intestine
10	chr1:145140200-145144000	Weak transcription	Fetal Lung	lung
11	chr1:145140200-145144000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:145140200-145144200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:145140200-145144200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr1:145140200-145144200	Weak transcription	Brain Anterior Caudate	brain
15	chr1:145140200-145144200	Weak transcription	Colon Smooth Muscle	Colon
16	chr1:145140200-145144200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr1:145140200-145144200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr1:145140200-145144200	Weak transcription	Fetal Intestine Small	intestine
19	chr1:145140200-145144200	Weak transcription	Fetal Kidney	kidney
20	chr1:145140200-145144200	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr1:145140200-145144200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr1:145140200-145144200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr1:145140200-145144200	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr1:145140200-145144200	Weak transcription	NH-A	brain
25	chr1:145140200-145144400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:145140200-145144400	Weak transcription	Fetal Muscle Leg	muscle
27	chr1:145140200-145144400	Weak transcription	Fetal Stomach	stomach
28	chr1:145140200-145145000	Weak transcription	NHLF	lung
29	chr1:145140200-145145400	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr1:145140200-145146800	Weak transcription	Fetal Heart	heart
31	chr1:145140200-145148600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr1:145140200-145165600	Weak transcription	Primary hematopoietic stem cells	blood
33	chr1:145140800-145144000	Weak transcription	HepG2	liver
34	chr1:145140800-145144000	Weak transcription	K562	blood
35	chr1:145141000-145143600	Weak transcription	NHDF-Ad	bronchial
36	chr1:145141000-145144000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:145141000-145144000	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr1:145141000-145144000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr1:145141000-145144000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr1:145141000-145144000	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr1:145141000-145144000	Weak transcription	Adipose Nuclei	Adipose
42	chr1:145141000-145144000	Weak transcription	Liver	Liver
43	chr1:145141000-145144000	Weak transcription	HSMM	muscle
44	chr1:145141000-145144000	Weak transcription	HSMMtube	muscle
45	chr1:145141000-145144000	Weak transcription	Osteobl	bone
46	chr1:145141000-145144200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:145141000-145144200	Weak transcription	A549	lung
48	chr1:145141400-145143400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr1:145141400-145143600	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr1:145143000-145144400	Weak transcription	Fetal Muscle Trunk	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links