Variant report

Variant	esv1822686
Chromosome Location	chr1:145154407-145291431
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2404)
CpG islands
(count:612)
Chromatin interactive
region (count:42)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2404 , 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	chr1:145289928-145289938	K562	blood:	n/a	n/a
2	ARID3A	chr1:145208951-145209121	K562	blood:	n/a	chr1:145209007-145209015
3	ARID3A	chr1:145208929-145209290	HepG2	liver:	n/a	chr1:145209007-145209015
4	ARID3A	chr1:145253698-145253898	K562	blood:	n/a	n/a
5	ARID3A	chr1:145254404-145254507	K562	blood:	n/a	n/a
6	ARID3A	chr1:145246167-145246562	HepG2	liver:	n/a	n/a
7	ATF1	chr1:145254447-145254481	K562	blood:	n/a	n/a
8	ATF1	chr1:145208937-145209133	K562	blood:	n/a	n/a
9	ATF1	chr1:145195978-145196042	K562	blood:	n/a	n/a
10	ATF1	chr1:145216140-145216326	K562	blood:	n/a	n/a
11	ATF2	chr1:145159486-145159715	GM12878	blood:	n/a	n/a
12	ATF2	chr1:145233655-145233883	GM12878	blood:	n/a	n/a
13	ATF2	chr1:145291190-145292070	GM12878	blood:	n/a	n/a
14	ATF2	chr1:145208822-145209212	GM12878	blood:	n/a	n/a
15	ATF3	chr1:145208827-145209217	A549	lung:	n/a	n/a
16	ATF3	chr1:145208814-145209112	A549	lung:	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	BACH1	chr1:145254231-145254659	K562	blood:	n/a	n/a
20	BACH1	chr1:145254230-145254652	H1-hESC	embryonic stem cell:	n/a	n/a
21	BATF	chr1:145213599-145213876	GM12878	blood:	n/a	n/a
22	BATF	chr1:145231709-145232035	GM12878	blood:	n/a	n/a
23	BATF	chr1:145154309-145155270	GM12878	blood:	n/a	n/a
24	BATF	chr1:145285189-145285435	GM12878	blood:	n/a	n/a
25	BATF	chr1:145219743-145220000	GM12878	blood:	n/a	n/a
26	BATF	chr1:145234411-145234753	GM12878	blood:	n/a	n/a
27	BATF	chr1:145212001-145212472	GM12878	blood:	n/a	n/a
28	BATF	chr1:145281369-145281733	GM12878	blood:	n/a	n/a
29	BATF	chr1:145208490-145209291	GM12878	blood:	n/a	chr1:145209134-145209142
30	BATF	chr1:145234955-145235323	GM12878	blood:	n/a	n/a
31	BATF	chr1:145210075-145210284	GM12878	blood:	n/a	n/a
32	BATF	chr1:145210057-145210394	GM12878	blood:	n/a	n/a
33	BATF	chr1:145218967-145219192	GM12878	blood:	n/a	chr1:145218977-145218990
34	BATF	chr1:145171479-145171789	GM12878	blood:	n/a	n/a
35	BATF	chr1:145209382-145209998	GM12878	blood:	n/a	n/a
36	BATF	chr1:145233237-145234045	GM12878	blood:	n/a	n/a
37	BATF	chr1:145210338-145210530	GM12878	blood:	n/a	n/a
38	BATF	chr1:145212132-145212476	GM12878	blood:	n/a	n/a
39	BATF	chr1:145277151-145277624	GM12878	blood:	n/a	n/a
40	BATF	chr1:145189103-145189407	GM12878	blood:	n/a	n/a
41	BATF	chr1:145290357-145290900	GM12878	blood:	n/a	n/a
42	BATF	chr1:145234968-145235329	GM12878	blood:	n/a	n/a
43	BATF	chr1:145159043-145159865	GM12878	blood:	n/a	n/a
44	BATF	chr1:145195914-145196301	GM12878	blood:	n/a	n/a
45	BATF	chr1:145277155-145277522	GM12878	blood:	n/a	n/a
46	BATF	chr1:145159059-145159858	GM12878	blood:	n/a	n/a
47	BATF	chr1:145260188-145260447	GM12878	blood:	n/a	n/a
48	BATF	chr1:145259491-145259713	GM12878	blood:	n/a	chr1:145259620-145259631
49	BATF	chr1:145233198-145234079	GM12878	blood:	n/a	n/a
50	BATF	chr1:145154286-145155318	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	chr1:145208980-145209030	GM12892	blood:	n/a
2	chr1:145210014-145210064	Caco-2	colon:	n/a
3	chr1:145208980-145209030	GM12892	blood:	n/a
4	chr1:145210014-145210064	Caco-2	colon:	n/a
5	chr1:145210014-145210064	A549	lung:	n/a
6	chr1:145209236-145209286	T-47D	breast:	n/a
7	chr1:145208980-145209030	BE2_C	brain:	n/a
8	chr1:145210014-145210064	HMEC	breast:	n/a
9	chr1:145211389-145211439	NHDF-neo	bronchial:	n/a
10	chr1:145208980-145209030	SAEC	small airway:	n/a
11	chr1:145209830-145209880	U87	brain:	n/a
12	chr1:145250914-145250964	MCF-7	breast:	n/a
13	chr1:145213338-145213388	PANC-1	pancreas:	n/a
14	chr1:145209236-145209286	H1-hESC	embryonic stem cell:	embryo
15	chr1:145209930-145209980	LNCaP	prostate:	n/a
16	chr1:145211389-145211439	K562	blood:	n/a
17	chr1:145208980-145209030	SK-N-SH	brain:	n/a
18	chr1:145210014-145210064	T-47D	breast:	n/a
19	chr1:145205174-145205224	SK-N-SH_RA	brain:	n/a
20	chr1:145209236-145209286	BE2_C	brain:	n/a
21	chr1:145210014-145210064	NH-A	brain:	n/a
22	chr1:145209830-145209880	SK-N-SH_RA	brain:	n/a
23	chr1:145208980-145209030	HPAEpiC	pulmonary alveolar:	n/a
24	chr1:145213338-145213388	AG04449	skin:	fetal
25	chr1:145209236-145209286	HepG2	liver:	n/a
26	chr1:145211389-145211439	IMR90	lung:	fetal
27	chr1:145205174-145205224	NB4	blood:	n/a
28	chr1:145213338-145213388	Caco-2	colon:	n/a
29	chr1:145211389-145211439	HRE	kidney:	n/a
30	chr1:145209236-145209286	HRCEpiC	kidney:	n/a
31	chr1:145209830-145209880	CMK	blood:	n/a
32	chr1:145209930-145209980	AG04449	skin:	fetal
33	chr1:145250914-145250964	BE2_C	brain:	n/a
34	chr1:145213338-145213388	NH-A	brain:	n/a
35	chr1:145250914-145250964	GM19239	blood:	n/a
36	chr1:145209236-145209286	SKMC	muscle:	n/a
37	chr1:145209930-145209980	HIPEpiC	eye:	n/a
38	chr1:145205174-145205224	HNPCEpiC	eye:	n/a
39	chr1:145213338-145213388	HAEpiC	amniotic membrane:	n/a
40	chr1:145211389-145211439	NB4	blood:	n/a
41	chr1:145209236-145209286	AoSMC	blood vessel:	n/a
42	chr1:145209930-145209980	HRCEpiC	kidney:	n/a
43	chr1:145213338-145213388	HCPEpiC	choroid plexus:	n/a
44	chr1:145211389-145211439	A549	lung:	n/a
45	chr1:145210014-145210064	RPTEC	kidney:	n/a
46	chr1:145209236-145209286	HCT-116	colon:	n/a
47	chr1:145211389-145211439	NT2-D1	testis:	n/a
48	chr1:145208980-145209030	T-47D	breast:	n/a
49	chr1:145210014-145210064	GM12892	blood:	n/a
50	chr1:145213338-145213388	AG09309	skin:	n/a

(count:42 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:145209779..145211659-chr1:145381647..145384503,2	MCF-7	breast:
2	chr1:120611958..120612515-chr1:145208972..145209639,2	NB4	blood:
3	chr1:120611941..120612674-chr1:145209107..145209637,6	MCF-7	breast:
4	chr1:120555279..120557791-chr1:145264672..145267612,3	K562	blood:
5	chr1:145288943..145293306-chr1:149221737..149224658,6	MCF-7	breast:
6	chr1:120610124..120613523-chr1:145208226..145211226,7	MCF-7	breast:
7	chr1:120562041..120564945-chr1:145257130..145258905,2	K562	blood:
8	chr1:145258606..145260477-chr1:145381662..145384269,2	MCF-7	breast:
9	chr1:120611825..120612753-chr1:145208933..145209629,3	Hela-S3	cervix:
10	chr1:145208214..145210170-chr1:145381446..145384467,3	MCF-7	breast:
11	chr1:120606120..120607638-chr1:145207438..145208952,2	MCF-7	breast:
12	chr1:145208945..145211572-chr1:145290799..145293780,3	MCF-7	breast:
13	chr1:120576520..120578439-chr1:145242059..145244929,2	MCF-7	breast:
14	chr1:145257082..145259251-chr1:145260108..145261925,2	MCF-7	breast:
15	chr1:120602747..120604407-chr1:145216153..145218112,2	MCF-7	breast:
16	chr1:120573750..120576750-chr1:145244417..145247281,4	MCF-7	breast:
17	chr1:145210633..145213326-chr1:149222498..149224954,2	MCF-7	breast:
18	chr1:145209043..145210611-chr1:149222292..149224968,3	MCF-7	breast:
19	chr1:145130093..145132779-chr1:145291052..145292604,2	K562	blood:
20	chr1:120561821..120563990-chr1:145256491..145258504,4	MCF-7	breast:
21	chr1:120610094..120613669-chr1:145207447..145211087,11	MCF-7	breast:
22	chr1:145246366..145248846-chr1:149222454..149225152,2	MCF-7	breast:
23	chr1:120565033..120566748-chr1:145252742..145255259,2	MCF-7	breast:
24	chr1:145110521..145113203-chr1:145271699..145274224,2	MCF-7	breast:
25	chr1:145209133..145210911-chr1:145213297..145216185,2	MCF-7	breast:
26	chr1:145257082..145259251-chr1:145260108..145261925,2	MCF-7	breast:
27	chr1:145287740..145289244-chr18:67226861..67228381,2	MCF-7	breast:
28	chr1:120562393..120564845-chr1:145256114..145258582,3	MCF-7	breast:
29	chr1:145209931..145210445-chr19:58874333..58874839,2	Hela-S3	cervix:
30	chr1:145238836..145241577-chr1:145243504..145245771,2	K562	blood:
31	chr1:120611803..120612535-chr1:145208972..145209627,6	MCF-7	breast:
32	chr1:145264618..145267295-chr1:145381743..145384010,2	K562	blood:
33	chr1:145193254..145195284-chr1:145382712..145384267,2	MCF-7	breast:
34	chr1:145208945..145211572-chr1:145290799..145293780,3	MCF-7	breast:
35	chr1:120533140..120534660-chr1:145287386..145288888,2	MCF-7	breast:
36	chr1:120574754..120575346-chr1:145245858..145246575,2	MCF-7	breast:
37	chr1:145238836..145241577-chr1:145243504..145245771,2	K562	blood:
38	chr1:145289699..145292602-chr1:149222944..149224949,3	MCF-7	breast:
39	chr1:145209435..145210070-chr1:145293272..145293941,2	MCF-7	breast:
40	chr1:145290091..145292740-chr1:145382337..145384639,2	MCF-7	breast:
41	chr1:53163301..53163992-chr1:145209547..145210339,2	Hela-S3	cervix:
42	chr1:145207909..145210605-chr1:145214441..145216644,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NOTCH2NL-2	chr1:145289770-145289906	NR_104217
2	lnc-NBPF10-1	chr1:145213108-145213374	expReg_chr1_15650_+
3	lnc-NOTCH2NL-2	chr1:145290781-145290850	NONHSAT005883
4	lnc-NOTCH2NL-2	chr1:145290422-145290511	NONHSAT005883
5	lnc-NOTCH2NL-2	chr1:145290429-145290511	NR_104217
6	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
RNU6-1071P	TF binding region
ENSG00000272709	CpG island
NOTCH2NL	CpG island
ENSG00000255168	CpG island
NBPF10	CpG island
RNU6-1071P	CpG island
ENSG00000255168	chromatin interactions
ENSG00000163386	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000162377	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000252211	chromatin interactions
ENSG00000213240	chromatin interactions
ENSG00000233396	chromatin interactions
ENSG00000134250	chromatin interactions

Extended variants
information (count: 3849 )
Associated
traits (count: 170 )

Variant overlapped rSNPs/rCNVs (count:3849 , 50 per page) page: 1 2 3 4 5 6 7 ... 77

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587699151	chr1:145154580-145154581	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs587758097	chr1:145154626-145154627	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs201205593	chr1:145154642-145154643	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs201296562	chr1:145154691-145154692	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs587607265	chr1:145154721-145154722	Weak transcription Enhancers Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs112027674	chr1:145154909-145154910	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs587670208	chr1:145154945-145154946	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs587722029	chr1:145154979-145154980	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs587622102	chr1:145155015-145155016	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs374513824	chr1:145155075-145155076	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs587702096	chr1:145155131-145155132	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs587736576	chr1:145155151-145155152	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs587632471	chr1:145155160-145155161	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs587687981	chr1:145155173-145155174	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs587765552	chr1:145155238-145155239	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs587598206	chr1:145155343-145155344	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs587633335	chr1:145155433-145155434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201806220	chr1:145155489-145155490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs587696381	chr1:145155497-145155498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs199993843	chr1:145155522-145155523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200953888	chr1:145155543-145155544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs587748402	chr1:145155583-145155584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs587670920	chr1:145155604-145155605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs587727514	chr1:145155605-145155606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs587623363	chr1:145155614-145155615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs587656255	chr1:145155698-145155699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs587709830	chr1:145155729-145155730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs587613436	chr1:145155730-145155731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs587661728	chr1:145155735-145155736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs587723249	chr1:145155825-145155826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs587603308	chr1:145155836-145155837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs587677739	chr1:145155890-145155891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs61811128	chr1:145155925-145155926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369693681	chr1:145155931-145155932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs587734769	chr1:145155932-145155933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs587630686	chr1:145155939-145155940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs587665152	chr1:145155940-145155941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs587738200	chr1:145156000-145156001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369950972	chr1:145156031-145156032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs587689513	chr1:145156188-145156189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs372311804	chr1:145156198-145156199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs587645967	chr1:145156200-145156201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs587703002	chr1:145156241-145156242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs587773589	chr1:145156297-145156298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs587678540	chr1:145156298-145156299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs587713020	chr1:145156301-145156302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs111329656	chr1:145156321-145156322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs587765047	chr1:145156323-145156324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs587644475	chr1:145156367-145156368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs587718030	chr1:145156406-145156407	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:4479 , 50 per page) page: 1 2 3 4 5 6 7 ... 90

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:145140200-145165600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr1:145145400-145155800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr1:145145400-145156600	Weak transcription	HSMMtube	muscle
4	chr1:145145600-145159000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:145145800-145156000	Weak transcription	NHLF	lung
6	chr1:145146400-145156000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:145148600-145155800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:145148600-145155800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:145148600-145155800	Weak transcription	Osteobl	bone
10	chr1:145149000-145156600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:145152800-145156000	Enhancers	Primary B cells from cord blood	blood
12	chr1:145153000-145159000	Weak transcription	Fetal Thymus	thymus
13	chr1:145153000-145160000	Weak transcription	Placenta	Placenta
14	chr1:145153200-145155200	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr1:145153200-145156000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr1:145153200-145157000	Weak transcription	NH-A	brain
17	chr1:145153600-145156000	Weak transcription	NHDF-Ad	bronchial
18	chr1:145153800-145155000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr1:145153800-145155800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:145154000-145155000	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr1:145154000-145155000	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr1:145154000-145155000	Weak transcription	Primary B cells from peripheral blood	blood
23	chr1:145154000-145155000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr1:145154000-145155000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr1:145154000-145155000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr1:145154000-145155000	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr1:145154000-145155000	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr1:145154000-145155000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr1:145154000-145155000	Weak transcription	Dnd41	blood
30	chr1:145154000-145155000	Weak transcription	GM12878-XiMat	blood
31	chr1:145154000-145155000	Active TSS	Monocytes-CD14+_RO01746	blood
32	chr1:145154000-145155200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr1:145154000-145155200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr1:145154000-145158400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:145154000-145158600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:145154000-145159400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr1:145155000-145155200	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr1:145155000-145155200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr1:145155000-145155200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr1:145155000-145155200	Enhancers	Dnd41	blood
41	chr1:145155000-145155400	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr1:145155000-145155400	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr1:145155000-145155400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr1:145155000-145155400	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr1:145155000-145155400	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr1:145155000-145155400	Flanking Active TSS	GM12878-XiMat	blood
47	chr1:145155000-145155400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr1:145155000-145156000	Enhancers	Primary B cells from peripheral blood	blood
49	chr1:145155000-145157400	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr1:145155200-145155400	Enhancers	Primary T cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

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