Variant report

Variant	esv1819193
Chromosome Location	chr1:145190073-145287537
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2029)
CpG islands
(count:612)
Chromatin interactive
region (count:36)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2029 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:145253698-145253898	K562	blood:	n/a	n/a
2	ARID3A	chr1:145208929-145209290	HepG2	liver:	n/a	chr1:145209007-145209015
3	ARID3A	chr1:145208951-145209121	K562	blood:	n/a	chr1:145209007-145209015
4	ARID3A	chr1:145246167-145246562	HepG2	liver:	n/a	n/a
5	ARID3A	chr1:145254404-145254507	K562	blood:	n/a	n/a
6	ATF1	chr1:145254447-145254481	K562	blood:	n/a	n/a
7	ATF1	chr1:145216140-145216326	K562	blood:	n/a	n/a
8	ATF1	chr1:145195978-145196042	K562	blood:	n/a	n/a
9	ATF1	chr1:145208937-145209133	K562	blood:	n/a	n/a
10	ATF2	chr1:145233655-145233883	GM12878	blood:	n/a	n/a
11	ATF2	chr1:145208822-145209212	GM12878	blood:	n/a	n/a
12	ATF3	chr1:145208814-145209112	A549	lung:	n/a	n/a
13	ATF3	chr1:145208827-145209217	A549	lung:	n/a	n/a
14	BACH1	chr1:145254231-145254659	K562	blood:	n/a	n/a
15	BACH1	chr1:145254230-145254652	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr1:145253854-145253876	K562	blood:	n/a	n/a
17	BACH1	chr1:145208936-145209146	H1-hESC	embryonic stem cell:	n/a	n/a
18	BATF	chr1:145234968-145235329	GM12878	blood:	n/a	n/a
19	BATF	chr1:145233198-145234079	GM12878	blood:	n/a	n/a
20	BATF	chr1:145231709-145232035	GM12878	blood:	n/a	n/a
21	BATF	chr1:145212132-145212476	GM12878	blood:	n/a	n/a
22	BATF	chr1:145219743-145220000	GM12878	blood:	n/a	n/a
23	BATF	chr1:145234411-145234753	GM12878	blood:	n/a	n/a
24	BATF	chr1:145281369-145281733	GM12878	blood:	n/a	n/a
25	BATF	chr1:145233237-145234045	GM12878	blood:	n/a	n/a
26	BATF	chr1:145218967-145219192	GM12878	blood:	n/a	chr1:145218977-145218990
27	BATF	chr1:145210338-145210530	GM12878	blood:	n/a	n/a
28	BATF	chr1:145195914-145196301	GM12878	blood:	n/a	n/a
29	BATF	chr1:145208490-145209291	GM12878	blood:	n/a	chr1:145209134-145209142
30	BATF	chr1:145210075-145210284	GM12878	blood:	n/a	n/a
31	BATF	chr1:145210057-145210394	GM12878	blood:	n/a	n/a
32	BATF	chr1:145259491-145259713	GM12878	blood:	n/a	chr1:145259620-145259631
33	BATF	chr1:145234955-145235323	GM12878	blood:	n/a	n/a
34	BATF	chr1:145277155-145277522	GM12878	blood:	n/a	n/a
35	BATF	chr1:145277151-145277624	GM12878	blood:	n/a	n/a
36	BATF	chr1:145213599-145213876	GM12878	blood:	n/a	n/a
37	BATF	chr1:145260188-145260447	GM12878	blood:	n/a	n/a
38	BATF	chr1:145209382-145209998	GM12878	blood:	n/a	n/a
39	BATF	chr1:145285189-145285435	GM12878	blood:	n/a	n/a
40	BATF	chr1:145212001-145212472	GM12878	blood:	n/a	n/a
41	BCL11A	chr1:145208600-145209261	GM12878	blood:	n/a	chr1:145209027-145209040 chr1:145209045-145209058 chr1:145209041-145209054 chr1:145209010-145209019
42	BCL11A	chr1:145246837-145247151	GM12878	blood:	n/a	chr1:145246927-145246934
43	BCL11A	chr1:145228759-145228989	GM12878	blood:	n/a	n/a
44	BCL11A	chr1:145219707-145219881	GM12878	blood:	n/a	n/a
45	BCL11A	chr1:145208329-145208557	GM12878	blood:	n/a	n/a
46	BCL11A	chr1:145277160-145277602	GM12878	blood:	n/a	n/a
47	BCL11A	chr1:145211543-145211917	GM12878	blood:	n/a	n/a
48	BCL11A	chr1:145234917-145235601	GM12878	blood:	n/a	chr1:145235133-145235142
49	BCL11A	chr1:145281502-145281945	GM12878	blood:	n/a	chr1:145281806-145281815
50	BCL11A	chr1:145233149-145234028	GM12878	blood:	n/a	n/a

(count:612 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:145211389-145211439	MCF10A-Er-Src	breast:	n/a
2	chr1:145205174-145205224	HepG2	liver:	n/a
3	chr1:145211389-145211439	MCF10A-Er-Src	breast:	n/a
4	chr1:145205174-145205224	HepG2	liver:	n/a
5	chr1:145209236-145209286	T-47D	breast:	n/a
6	chr1:145211389-145211439	T-47D	breast:	n/a
7	chr1:145209830-145209880	NT2-D1	testis:	n/a
8	chr1:145213338-145213388	AG10803	skin:	n/a
9	chr1:145209236-145209286	BJ	skin:	n/a
10	chr1:145207943-145207993	HEEpiC	esophagus:	n/a
11	chr1:145210014-145210064	HMEC	breast:	n/a
12	chr1:145211389-145211439	NHBE	bronchial:	n/a
13	chr1:145211389-145211439	AG04450	lung:	fetal
14	chr1:145207943-145207993	ECC-1	luminal epithelium:	n/a
15	chr1:145209236-145209286	HL-60	blood:	n/a
16	chr1:145208980-145209030	LNCaP	prostate:	n/a
17	chr1:145209236-145209286	HIPEpiC	eye:	n/a
18	chr1:145209930-145209980	HCT-116	colon:	n/a
19	chr1:145205174-145205224	SK-N-MC	brain:	n/a
20	chr1:145209830-145209880	H1-hESC	embryonic stem cell:	embryo
21	chr1:145211389-145211439	HAEpiC	amniotic membrane:	n/a
22	chr1:145250914-145250964	NB4	blood:	n/a
23	chr1:145211389-145211439	HIPEpiC	eye:	n/a
24	chr1:145250914-145250964	HCPEpiC	choroid plexus:	n/a
25	chr1:145209930-145209980	H1-hESC	embryonic stem cell:	embryo
26	chr1:145213338-145213388	SK-N-SH_RA	brain:	n/a
27	chr1:145209930-145209980	AoSMC	blood vessel:	n/a
28	chr1:145210014-145210064	Hepatocyte	liver:	n/a
29	chr1:145213338-145213388	ovcar-3	ovarian:	n/a
30	chr1:145210014-145210064	HPAEpiC	pulmonary alveolar:	n/a
31	chr1:145205174-145205224	CMK	blood:	n/a
32	chr1:145207943-145207993	CMK	blood:	n/a
33	chr1:145213338-145213388	MCF10A-Er-Src	breast:	n/a
34	chr1:145250914-145250964	MCF10A-Er-Src	breast:	n/a
35	chr1:145209830-145209880	AG04450	lung:	fetal
36	chr1:145207943-145207993	IMR90	lung:	fetal
37	chr1:145205174-145205224	NB4	blood:	n/a
38	chr1:145208980-145209030	AG10803	skin:	n/a
39	chr1:145209930-145209980	GM12892	blood:	n/a
40	chr1:145211389-145211439	SK-N-SH	brain:	n/a
41	chr1:145208980-145209030	NB4	blood:	n/a
42	chr1:145211389-145211439	ProgFib	skin:	n/a
43	chr1:145209236-145209286	SK-N-SH_RA	brain:	n/a
44	chr1:145209236-145209286	GM06990	blood:	n/a
45	chr1:145205174-145205224	PrEC	prostate:	n/a
46	chr1:145210014-145210064	MCF-7	breast:	n/a
47	chr1:145210014-145210064	Hela-S3	cervix:	n/a
48	chr1:145209930-145209980	HMEC	breast:	n/a
49	chr1:145209830-145209880	SAEC	small airway:	n/a
50	chr1:145250914-145250964	HepG2	liver:	n/a

(count:36 , 50 per page) page: 1

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

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

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

No data

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

Extended variants
information (count: 2535 )
Associated
traits (count: 170 )

Variant overlapped rSNPs/rCNVs (count:2535 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200276465	chr1:145190211-145190212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs368640353	chr1:145190282-145190283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs375164467	chr1:145190322-145190323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs587770734	chr1:145190329-145190330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs201187239	chr1:145190356-145190357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs587644000	chr1:145190411-145190412	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs200168136	chr1:145190415-145190416	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79896053	chr1:145190419-145190420	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs2924832	chr1:145190435-145190436	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs199748277	chr1:145190472-145190473	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs61814481	chr1:145190614-145190615	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112810156	chr1:145190622-145190623	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs58567136	chr1:145190636-145190637	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs587776067	chr1:145190637-145190638	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs61814482	chr1:145190643-145190644	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs587637387	chr1:145190690-145190691	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs372933823	chr1:145190704-145190705	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs587723048	chr1:145190705-145190706	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs61814483	chr1:145190708-145190709	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs587752449	chr1:145190714-145190715	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200927166	chr1:145190768-145190769	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs587654537	chr1:145190772-145190773	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs201906708	chr1:145190804-145190805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2996431	chr1:145190860-145190861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs202192577	chr1:145190865-145190866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs200199227	chr1:145190882-145190883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs113411874	chr1:145190929-145190930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs587710508	chr1:145190969-145190970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs587609550	chr1:145191013-145191014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs587675506	chr1:145191049-145191050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs587708448	chr1:145191067-145191068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs377465152	chr1:145191082-145191083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs2799297	chr1:145191083-145191084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs587607555	chr1:145191102-145191103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs199546839	chr1:145191133-145191134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs587739535	chr1:145191188-145191189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs587609934	chr1:145191189-145191190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs200977858	chr1:145191216-145191217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs587690923	chr1:145191267-145191268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs856455	chr1:145191274-145191275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs587748013	chr1:145191326-145191327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs587655947	chr1:145191396-145191397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs374883338	chr1:145191417-145191418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs368130170	chr1:145191462-145191463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs4649535	chr1:145191531-145191532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs374285032	chr1:145191551-145191552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs368828499	chr1:145191556-145191557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs587711489	chr1:145191565-145191566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs76865315	chr1:145191608-145191609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs587765036	chr1:145191611-145191612	Weak transcription Enhancers	n/a	n/a	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:3811 , 50 per page) page: 1 2 3 4 5 6 7 ... 77

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:145177600-145191800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr1:145178200-145190600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr1:145186600-145195800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:145187400-145195600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:145187400-145195600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:145187600-145191200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:145187600-145194600	Weak transcription	Osteobl	bone
8	chr1:145188200-145195800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:145188800-145191400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:145189000-145190600	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr1:145189000-145191400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr1:145189200-145190400	Weak transcription	Primary B cells from cord blood	blood
13	chr1:145189200-145190600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr1:145189200-145191400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr1:145189200-145192000	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr1:145189400-145190400	Weak transcription	Primary B cells from peripheral blood	blood
17	chr1:145189400-145190400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr1:145189400-145191200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr1:145189400-145191200	Weak transcription	Fetal Thymus	thymus
20	chr1:145189400-145192200	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr1:145189400-145194800	Weak transcription	Dnd41	blood
22	chr1:145189400-145195600	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr1:145189400-145195600	Weak transcription	HMEC	breast
24	chr1:145189400-145195600	Weak transcription	NHDF-Ad	bronchial
25	chr1:145189400-145197200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr1:145189400-145199600	Weak transcription	Primary T cells from cord blood	blood
27	chr1:145190000-145190600	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr1:145190000-145190800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr1:145190000-145191000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:145190000-145204000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr1:145190400-145190600	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr1:145190400-145190800	Genic enhancers	Primary B cells from peripheral blood	blood
33	chr1:145190400-145192200	Enhancers	Primary B cells from cord blood	blood
34	chr1:145190600-145190800	Enhancers	Primary T helper cells PMA-I stimulated	--
35	chr1:145190600-145191000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr1:145190600-145192000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr1:145190800-145192200	Enhancers	Primary B cells from peripheral blood	blood
38	chr1:145190800-145192200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr1:145190800-145195200	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr1:145191000-145192000	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr1:145191200-145191400	Enhancers	Spleen	Spleen
42	chr1:145191200-145192000	Enhancers	Primary hematopoietic stem cells	blood
43	chr1:145191200-145192000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr1:145191200-145192000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:145191200-145192000	Enhancers	Muscle Satellite Cultured Cells	--
46	chr1:145191200-145192000	Enhancers	Fetal Lung	lung
47	chr1:145191200-145192000	Enhancers	Fetal Thymus	thymus
48	chr1:145191400-145195800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr1:145191400-145197200	Weak transcription	Spleen	Spleen
50	chr1:145192000-145193000	Enhancers	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links