Variant report

Variant	nsv946256
Chromosome Location	chr1:145139519-145205298
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:729)
CpG islands
(count:307)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:729 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr1:145195978-145196042	K562	blood:	n/a	n/a
2	ATF2	chr1:145159486-145159715	GM12878	blood:	n/a	n/a
3	BATF	chr1:145171479-145171789	GM12878	blood:	n/a	n/a
4	BATF	chr1:145153039-145153342	GM12878	blood:	n/a	n/a
5	BATF	chr1:145159059-145159858	GM12878	blood:	n/a	n/a
6	BATF	chr1:145154309-145155270	GM12878	blood:	n/a	n/a
7	BATF	chr1:145189103-145189407	GM12878	blood:	n/a	n/a
8	BATF	chr1:145152894-145153398	GM12878	blood:	n/a	n/a
9	BATF	chr1:145139292-145139563	GM12878	blood:	n/a	n/a
10	BATF	chr1:145195914-145196301	GM12878	blood:	n/a	n/a
11	BATF	chr1:145159043-145159865	GM12878	blood:	n/a	n/a
12	BATF	chr1:145154286-145155318	GM12878	blood:	n/a	n/a
13	BCL11A	chr1:145195841-145196148	GM12878	blood:	n/a	n/a
14	BCL11A	chr1:145144553-145144865	GM12878	blood:	n/a	n/a
15	BCL11A	chr1:145139604-145139939	GM12878	blood:	n/a	chr1:145139838-145139847
16	BCL11A	chr1:145159326-145159774	GM12878	blood:	n/a	chr1:145159481-145159490
17	BCL11A	chr1:145139734-145139968	GM12878	blood:	n/a	chr1:145139838-145139847
18	BCL11A	chr1:145152888-145153390	GM12878	blood:	n/a	n/a
19	BCL11A	chr1:145154296-145154577	GM12878	blood:	n/a	n/a
20	BCL11A	chr1:145153041-145153282	GM12878	blood:	n/a	n/a
21	BCL11A	chr1:145159061-145159897	GM12878	blood:	n/a	chr1:145159481-145159490
22	BCL11A	chr1:145159097-145159259	GM12878	blood:	n/a	n/a
23	BCL11A	chr1:145154296-145155300	GM12878	blood:	n/a	n/a
24	BCL11A	chr1:145154599-145155238	GM12878	blood:	n/a	n/a
25	BHLHE40	chr1:145159350-145159641	GM12878	blood:	n/a	n/a
26	CBX3	chr1:145138713-145140124	K562	blood:	n/a	n/a
27	CBX3	chr1:145144450-145144949	K562	blood:	n/a	n/a
28	CEBPB	chr1:145200185-145200534	A549	lung:	n/a	n/a
29	CEBPB	chr1:145200225-145200545	HepG2	liver:	n/a	n/a
30	CEBPB	chr1:145173818-145173894	HepG2	liver:	n/a	n/a
31	CEBPB	chr1:145160809-145160847	IMR90	lung:	n/a	n/a
32	CEBPB	chr1:145196032-145196042	IMR90	lung:	n/a	n/a
33	CEBPB	chr1:145200297-145200427	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr1:145144618-145144655	IMR90	lung:	n/a	n/a
35	CEBPB	chr1:145200187-145200542	IMR90	lung:	n/a	n/a
36	CEBPB	chr1:145159615-145159623	IMR90	lung:	n/a	n/a
37	CEBPB	chr1:145159283-145159768	GM12878	blood:	n/a	n/a
38	CEBPB	chr1:145200231-145200536	K562	blood:	n/a	n/a
39	CEBPB	chr1:145203555-145203769	IMR90	lung:	n/a	chr1:145203645-145203656
40	CEBPB	chr1:145200277-145200477	H1-hESC	embryonic stem cell:	n/a	n/a
41	CEBPB	chr1:145181255-145181435	A549	lung:	n/a	n/a
42	CEBPD	chr1:145190507-145190882	K562	blood:	n/a	n/a
43	CEBPD	chr1:145139668-145140151	K562	blood:	n/a	n/a
44	CHD1	chr1:145160716-145160940	IMR90	lung:	n/a	n/a
45	CTCF	chr1:145197340-145197490	WERI-Rb-1	eye:	n/a	n/a
46	CTCF	chr1:145139940-145140090	HCPEpiC	choroid plexus:	n/a	n/a
47	CTCF	chr1:145139860-145140010	SK-N-SH_RA	brain:	n/a	chr1:145139860-145139869
48	CTCF	chr1:145194020-145194170	HMEC	breast:	n/a	n/a
49	CTCF	chr1:145139920-145140070	HPAF	blood vessel:	n/a	n/a
50	CTCF	chr1:145139900-145140050	HRE	kidney:	n/a	n/a

(count:307 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:145139908-145139958	IMR90	lung:	fetal
2	chr1:145139679-145139729	HepG2	liver:	n/a
3	chr1:145139908-145139958	IMR90	lung:	fetal
4	chr1:145139679-145139729	HepG2	liver:	n/a
5	chr1:145205174-145205224	HRE	kidney:	n/a
6	chr1:145205174-145205224	HCM	heart:	n/a
7	chr1:145139679-145139729	HNPCEpiC	eye:	n/a
8	chr1:145139908-145139958	Hela-S3	cervix:	n/a
9	chr1:145205174-145205224	NT2-D1	testis:	n/a
10	chr1:145139679-145139729	HCM	heart:	n/a
11	chr1:145139896-145139946	K562	blood:	n/a
12	chr1:145139908-145139958	HRCEpiC	kidney:	n/a
13	chr1:145139896-145139946	Caco-2	colon:	n/a
14	chr1:145205174-145205224	NHBE	bronchial:	n/a
15	chr1:145139896-145139946	MCF10A-Er-Src	breast:	n/a
16	chr1:145139908-145139958	GM12892	blood:	n/a
17	chr1:145139473-145139523	GM19239	blood:	n/a
18	chr1:145139908-145139958	BE2_C	brain:	n/a
19	chr1:145139473-145139523	HCM	heart:	n/a
20	chr1:145139896-145139946	HIPEpiC	eye:	n/a
21	chr1:145139473-145139523	SK-N-SH	brain:	n/a
22	chr1:145139679-145139729	NH-A	brain:	n/a
23	chr1:145139896-145139946	SKMC	muscle:	n/a
24	chr1:145205174-145205224	K562	blood:	n/a
25	chr1:145139679-145139729	ProgFib	skin:	n/a
26	chr1:145205174-145205224	SK-N-SH	brain:	n/a
27	chr1:145139679-145139729	BJ	skin:	n/a
28	chr1:145139908-145139958	AG04449	skin:	fetal
29	chr1:145139473-145139523	CMK	blood:	n/a
30	chr1:145139679-145139729	HEEpiC	esophagus:	n/a
31	chr1:145139473-145139523	AG09319	gingival:	n/a
32	chr1:145205174-145205224	NH-A	brain:	n/a
33	chr1:145139896-145139946	HRE	kidney:	n/a
34	chr1:145139473-145139523	K562	blood:	n/a
35	chr1:145139473-145139523	AoSMC	blood vessel:	n/a
36	chr1:145139908-145139958	SK-N-MC	brain:	n/a
37	chr1:145139473-145139523	HCT-116	colon:	n/a
38	chr1:145205174-145205224	Caco-2	colon:	n/a
39	chr1:145139473-145139523	SAEC	small airway:	n/a
40	chr1:145139679-145139729	AG10803	skin:	n/a
41	chr1:145139896-145139946	AG10803	skin:	n/a
42	chr1:145205174-145205224	U87	brain:	n/a
43	chr1:145139679-145139729	Hepatocyte	liver:	n/a
44	chr1:145139896-145139946	PFSK-1	brain:	n/a
45	chr1:145139679-145139729	GM12892	blood:	n/a
46	chr1:145139473-145139523	NHDF-neo	bronchial:	n/a
47	chr1:145139896-145139946	NB4	blood:	n/a
48	chr1:145205174-145205224	SAEC	small airway:	n/a
49	chr1:145139679-145139729	AG04450	lung:	fetal
50	chr1:145205174-145205224	AG10803	skin:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr1:145137959..145140660-chr1:145381811..145384748,2	K562	blood:
2	chr1:145138455..145140955-chr1:145381729..145384293,2	MCF-7	breast:
3	chr1:145193254..145195284-chr1:145382712..145384267,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PDE4DIP-6	chr1:145200338-145200891	ENSG00000272709.1

No data

Variant related genes	Relation type
NUDT4P1	TF binding region
ENSG00000272709	TF binding region
NOTCH2NL	TF binding region
ENSG00000255168	TF binding region
RNU6-1071P	TF binding region
NUDT4P1	CpG island
ENSG00000272709	CpG island
NOTCH2NL	CpG island
ENSG00000255168	CpG island
RNU6-1071P	CpG island
ENSG00000233396	chromatin interactions
ENSG00000201558	chromatin interactions

Extended variants
information (count: 1966 )
Associated
traits (count: 171 )

Variant overlapped rSNPs/rCNVs (count:1966 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs587713999	chr1:145139526-145139527	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs587596804	chr1:145139587-145139588	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs141085634	chr1:145139594-145139595	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs200716520	chr1:145139601-145139602	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs150282922	chr1:145139602-145139603	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs3831335	chr1:145139613-145139614	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs587694681	chr1:145139629-145139630	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs587754325	chr1:145139635-145139636	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs587652082	chr1:145139637-145139638	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs190311023	chr1:145139657-145139658	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs1341427	chr1:145139661-145139662	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs587616498	chr1:145139695-145139696	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs587702517	chr1:145139705-145139706	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs587759764	chr1:145139707-145139708	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs587634483	chr1:145139813-145139814	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs112945491	chr1:145139830-145139831	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs372319651	chr1:145139833-145139834	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs61811104	chr1:145139852-145139853	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs587695908	chr1:145139861-145139862	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs74119790	chr1:145139912-145139913	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs587751592	chr1:145139923-145139924	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs369286709	chr1:145139926-145139927	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs184807077	chr1:145139933-145139934	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs587703474	chr1:145139941-145139942	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs76259760	chr1:145139948-145139949	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs587765464	chr1:145139967-145139968	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs369946309	chr1:145140019-145140020	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs2487614	chr1:145140034-145140035	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs587718908	chr1:145140086-145140087	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs201777148	chr1:145140087-145140088	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs587617420	chr1:145140114-145140115	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs587698858	chr1:145140130-145140131	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs374721391	chr1:145140205-145140206	Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs587731469	chr1:145140294-145140295	Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs587627678	chr1:145140304-145140305	Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs587668399	chr1:145140334-145140335	Enhancers Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs587744297	chr1:145140382-145140383	Enhancers Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs144838270	chr1:145140410-145140411	Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs587602410	chr1:145140433-145140434	Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs587672172	chr1:145140466-145140467	Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs587740889	chr1:145140488-145140489	Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs587616031	chr1:145140509-145140510	Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs200815586	chr1:145140533-145140534	Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs587693703	chr1:145140589-145140590	Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs587728544	chr1:145140592-145140593	Enhancers Weak transcription Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs587621054	chr1:145140703-145140704	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs587686029	chr1:145140714-145140715	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs587758682	chr1:145140763-145140764	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs201786159	chr1:145140778-145140779	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs28538802	chr1:145140780-145140781	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:171)

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	17289997	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
Ovarian cancer	21720365	CNVD

Chromatin state (count:997 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:145138400-145140000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:145139000-145139600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr1:145139000-145139800	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:145139000-145140000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr1:145139000-145140000	Active TSS	Primary monocytes fromperipheralblood	blood
6	chr1:145139000-145140000	Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr1:145139000-145140000	Active TSS	Primary B cells from cord blood	blood
8	chr1:145139000-145140000	Active TSS	Primary B cells from peripheral blood	blood
9	chr1:145139000-145140000	Active TSS	Primary T cells fromperipheralblood	blood
10	chr1:145139000-145140000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr1:145139000-145140000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
12	chr1:145139000-145140000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
13	chr1:145139000-145140000	Active TSS	Muscle Satellite Cultured Cells	--
14	chr1:145139000-145140000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:145139000-145140000	Active TSS	Adipose Nuclei	Adipose
16	chr1:145139000-145140000	Active TSS	Thymus	Thymus
17	chr1:145139000-145140000	Active TSS	Hela-S3	cervix
18	chr1:145139000-145140000	Active TSS	HSMM	muscle
19	chr1:145139000-145140000	Active TSS	HUVEC	blood vessel
20	chr1:145139000-145140000	Active TSS	Monocytes-CD14+_RO01746	blood
21	chr1:145139000-145140000	Active TSS	NHEK	skin
22	chr1:145139000-145140200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:145139000-145140200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
24	chr1:145139000-145140200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:145139000-145140200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:145139000-145140200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr1:145139000-145140200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:145139000-145140200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:145139000-145140200	Active TSS	Liver	Liver
30	chr1:145139000-145140200	Active TSS	Brain Cingulate Gyrus	brain
31	chr1:145139000-145140200	Active TSS	Brain Germinal Matrix	brain
32	chr1:145139000-145140200	Active TSS	Duodenum Mucosa	Duodenum
33	chr1:145139000-145140200	Active TSS	Fetal Kidney	kidney
34	chr1:145139000-145140200	Active TSS	Fetal Muscle Leg	muscle
35	chr1:145139000-145140200	Active TSS	Psoas Muscle	Psoas
36	chr1:145139000-145140200	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr1:145139000-145140200	Active TSS	Rectal Mucosa Donor 31	rectum
38	chr1:145139000-145140200	Active TSS	Rectal Smooth Muscle	rectum
39	chr1:145139000-145140200	Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr1:145139000-145140200	Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr1:145139000-145140200	Active TSS	Stomach Smooth Muscle	stomach
42	chr1:145139000-145140200	Active TSS	HSMMtube	muscle
43	chr1:145139000-145140200	Active TSS	NHDF-Ad	bronchial
44	chr1:145139000-145140800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr1:145139200-145139600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr1:145139200-145139600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr1:145139200-145139600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
48	chr1:145139200-145139600	Active TSS	Primary T helper naive cells from peripheral blood	blood
49	chr1:145139200-145139600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
50	chr1:145139200-145139600	Active TSS	Primary T killer memory cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links