Variant report

Variant	nsv535735
Chromosome Location	chr2:58386271-58477536
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1113)
CpG islands
(count:732)
Chromatin interactive
region (count:73)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1113 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:58409811-58409980	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:58430323-58430835	HepG2	liver:	n/a	n/a
3	ARID3A	chr2:58455485-58455706	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:58397762-58398004	HepG2	liver:	n/a	n/a
5	ARID3A	chr2:58431284-58432117	HepG2	liver:	n/a	n/a
6	ARID3A	chr2:58429321-58429553	HepG2	liver:	n/a	n/a
7	ARID3A	chr2:58468521-58469032	K562	blood:	n/a	n/a
8	ARID3A	chr2:58467513-58468652	HepG2	liver:	n/a	n/a
9	ARID3A	chr2:58422904-58423108	HepG2	liver:	n/a	n/a
10	ARID3A	chr2:58464799-58465277	K562	blood:	n/a	n/a
11	ATF1	chr2:58464894-58465246	K562	blood:	n/a	n/a
12	ATF2	chr2:58468150-58468656	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr2:58468133-58468828	GM12878	blood:	n/a	n/a
14	BACH1	chr2:58468055-58468798	H1-hESC	embryonic stem cell:	n/a	n/a
15	BCL3	chr2:58468158-58468856	A549	lung:	n/a	chr2:58468232-58468241 chr2:58468295-58468308
16	BCL3	chr2:58467983-58468879	A549	lung:	n/a	chr2:58468232-58468241 chr2:58468295-58468308
17	BCLAF1	chr2:58468029-58468813	GM12878	blood:	n/a	chr2:58468232-58468241 chr2:58468295-58468308
18	BHLHE40	chr2:58431466-58431786	HepG2	liver:	n/a	n/a
19	BHLHE40	chr2:58468368-58468790	K562	blood:	n/a	n/a
20	BHLHE40	chr2:58468303-58468770	GM12878	blood:	n/a	n/a
21	BHLHE40	chr2:58397649-58397926	HepG2	liver:	n/a	n/a
22	BHLHE40	chr2:58397645-58397917	HepG2	liver:	n/a	n/a
23	BRCA1	chr2:58468275-58468663	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr2:58468326-58468778	H1-hESC	embryonic stem cell:	n/a	n/a
25	BRCA1	chr2:58468264-58468744	HepG2	liver:	n/a	n/a
26	CBX3	chr2:58437899-58438520	K562	blood:	n/a	n/a
27	CBX3	chr2:58468374-58468817	K562	blood:	n/a	n/a
28	CBX3	chr2:58468007-58468966	K562	blood:	n/a	n/a
29	CBX3	chr2:58463114-58463496	K562	blood:	n/a	n/a
30	CBX3	chr2:58438135-58438410	K562	blood:	n/a	n/a
31	CCNT2	chr2:58468034-58468802	K562	blood:	n/a	chr2:58468119-58468128
32	CEBPB	chr2:58422883-58423164	HepG2	liver:	n/a	n/a
33	CEBPB	chr2:58409559-58410164	A549	lung:	n/a	n/a
34	CEBPB	chr2:58468260-58468652	H1-hESC	embryonic stem cell:	n/a	n/a
35	CEBPB	chr2:58463667-58463886	A549	lung:	n/a	chr2:58463826-58463837
36	CEBPB	chr2:58422714-58423193	MCF-7	breast:	n/a	n/a
37	CEBPB	chr2:58468266-58468597	K562	blood:	n/a	n/a
38	CEBPB	chr2:58463689-58464001	HepG2	liver:	n/a	chr2:58463826-58463837
39	CEBPB	chr2:58422805-58423189	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chr2:58467501-58468730	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr2:58391097-58391399	A549	lung:	n/a	chr2:58391243-58391256
42	CEBPB	chr2:58468245-58468606	IMR90	lung:	n/a	n/a
43	CEBPB	chr2:58421888-58421916	K562	blood:	n/a	n/a
44	CEBPB	chr2:58391078-58391424	IMR90	lung:	n/a	chr2:58391243-58391256
45	CEBPB	chr2:58412977-58413018	A549	lung:	n/a	n/a
46	CEBPB	chr2:58437697-58437729	A549	lung:	n/a	n/a
47	CEBPB	chr2:58422891-58423058	HepG2	liver:	n/a	n/a
48	CEBPB	chr2:58391214-58391396	H1-hESC	embryonic stem cell:	n/a	chr2:58391243-58391256
49	CEBPB	chr2:58397770-58397914	HepG2	liver:	n/a	n/a
50	CEBPB	chr2:58389936-58389947	K562	blood:	n/a	n/a

(count:732 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:58468460-58468510	NHBE	bronchial:	n/a
2	chr2:58469051-58469101	IMR90	lung:	fetal
3	chr2:58468581-58468631	MCF10A-Er-Src	breast:	n/a
4	chr2:58468575-58468625	A549	lung:	n/a
5	chr2:58468575-58468625	HL-60	blood:	n/a
6	chr2:58468193-58468243	SKMC	muscle:	n/a
7	chr2:58386677-58386727	HCF	heart:	n/a
8	chr2:58468575-58468625	NHBE	bronchial:	n/a
9	chr2:58468460-58468510	AG09309	skin:	n/a
10	chr2:58468512-58468562	HCPEpiC	choroid plexus:	n/a
11	chr2:58468460-58468510	SAEC	small airway:	n/a
12	chr2:58468193-58468243	HIPEpiC	eye:	n/a
13	chr2:58386677-58386727	HCM	heart:	n/a
14	chr2:58462331-58462381	BE2_C	brain:	n/a
15	chr2:58469051-58469101	PANC-1	pancreas:	n/a
16	chr2:58468575-58468625	HEEpiC	esophagus:	n/a
17	chr2:58468581-58468631	LNCaP	prostate:	n/a
18	chr2:58468651-58468701	HepG2	liver:	n/a
19	chr2:58468575-58468625	BJ	skin:	n/a
20	chr2:58469051-58469101	SK-N-SH	brain:	n/a
21	chr2:58468512-58468562	NT2-D1	testis:	n/a
22	chr2:58469051-58469101	HIPEpiC	eye:	n/a
23	chr2:58467883-58467933	MCF-7	breast:	n/a
24	chr2:58468631-58468681	ovcar-3	ovarian:	n/a
25	chr2:58462331-58462381	AoSMC	blood vessel:	n/a
26	chr2:58468575-58468625	IMR90	lung:	fetal
27	chr2:58468460-58468510	Caco-2	colon:	n/a
28	chr2:58468651-58468701	HIPEpiC	eye:	n/a
29	chr2:58462331-58462381	HCT-116	colon:	n/a
30	chr2:58468512-58468562	A549	lung:	n/a
31	chr2:58386677-58386727	SK-N-MC	brain:	n/a
32	chr2:58469051-58469101	NH-A	brain:	n/a
33	chr2:58468460-58468510	H1-hESC	embryonic stem cell:	embryo
34	chr2:58468575-58468625	ovcar-3	ovarian:	n/a
35	chr2:58468651-58468701	IMR90	lung:	fetal
36	chr2:58468460-58468510	AG04449	skin:	fetal
37	chr2:58468431-58468481	HPAEpiC	pulmonary alveolar:	n/a
38	chr2:58468460-58468510	GM12878	blood:	n/a
39	chr2:58469051-58469101	ovcar-3	ovarian:	n/a
40	chr2:58468460-58468510	U87	brain:	n/a
41	chr2:58468581-58468631	SAEC	small airway:	n/a
42	chr2:58468460-58468510	BJ	skin:	n/a
43	chr2:58468631-58468681	NHDF-neo	bronchial:	n/a
44	chr2:58469051-58469101	GM12892	blood:	n/a
45	chr2:58468631-58468681	HEK293	kidney:	embryo
46	chr2:58468431-58468481	HRCEpiC	kidney:	n/a
47	chr2:58467883-58467933	HCF	heart:	n/a
48	chr2:58468575-58468625	LNCaP	prostate:	n/a
49	chr2:58462331-58462381	RPTEC	kidney:	n/a
50	chr2:58468581-58468631	ProgFib	skin:	n/a

(count:73 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr2:58438532..58441136-chr2:58448840..58451034,2	K562	blood:
2	chr2:58444634..58446465-chr2:58458026..58460794,3	MCF-7	breast:
3	chr2:58465119..58467411-chr2:58475928..58478281,2	K562	blood:
4	chr2:58453422..58455575-chr2:58455818..58457363,2	K562	blood:
5	chr2:58428111..58430458-chr2:58435742..58437845,2	K562	blood:
6	chr2:58455073..58459456-chr2:58466641..58469255,4	K562	blood:
7	chr2:58453422..58455575-chr2:58455818..58457533,3	K562	blood:
8	chr11:70117301..70117801-chr2:58467877..58468578,2	Hela-S3	cervix:
9	chr2:58458402..58460893-chr2:58461273..58462970,2	MCF-7	breast:
10	chr2:58448319..58453371-chr2:58460380..58466527,5	K562	blood:
11	chr2:58448017..58451286-chr2:58451498..58454786,5	K562	blood:
12	chr2:58390705..58393005-chr2:58433793..58436781,2	K562	blood:
13	chr2:58454709..58457250-chr2:58468268..58470995,2	K562	blood:
14	chr2:58454709..58457250-chr2:58468268..58470995,2	K562	blood:
15	chr2:58444316..58447844-chr2:58463533..58467170,3	K562	blood:
16	chr2:58457454..58459312-chr2:58461373..58464013,3	K562	blood:
17	chr2:58421065..58422732-chr2:58460055..58462156,2	K562	blood:
18	chr2:58459530..58463779-chr2:58463929..58469122,8	K562	blood:
19	chr2:58470871..58473115-chr2:58475772..58477795,2	K562	blood:
20	chr2:58368906..58371663-chr2:58384969..58387445,2	K562	blood:
21	chr2:58467615..58468590-chr20:47538011..47538890,2	Hela-S3	cervix:
22	chr2:58373370..58376170-chr2:58468989..58470731,2	K562	blood:
23	chr2:58273167..58274943-chr2:58395167..58397109,2	K562	blood:
24	chr2:58463999..58466723-chr2:58466859..58468849,2	K562	blood:
25	chr2:58457766..58459918-chr2:58466362..58468351,2	MCF-7	breast:
26	chr2:58475275..58477327-chr2:58514997..58517275,2	K562	blood:
27	chr2:58466846..58469394-chr2:58473611..58475427,3	MCF-7	breast:
28	chr2:58470992..58473115-chr2:58475772..58478288,2	K562	blood:
29	chr2:58382472..58384235-chr2:58388859..58391605,2	MCF-7	breast:
30	chr2:58421065..58422732-chr2:58460055..58462156,2	K562	blood:
31	chr2:58468241..58469136-chr2:96874014..96874530,2	Hela-S3	cervix:
32	chr2:58472143..58474612-chr2:58480304..58482330,2	K562	blood:
33	chr2:58427142..58430868-chr2:58432407..58434605,4	K562	blood:
34	chr2:58418370..58420145-chr2:58421628..58423129,2	K562	blood:
35	chr2:58448319..58453371-chr2:58460380..58466527,5	K562	blood:
36	chr14:66359504..66360065-chr2:58426278..58426972,2	MCF-7	breast:
37	chr2:58442380..58445315-chr2:58458064..58460897,2	MCF-7	breast:
38	chr19:40476701..40477573-chr2:58468129..58468983,2	Hela-S3	cervix:
39	chr2:58455073..58459456-chr2:58466641..58469255,4	K562	blood:
40	chr2:58442380..58445315-chr2:58458064..58460897,2	MCF-7	breast:
41	chr2:58448017..58451286-chr2:58451498..58454786,5	K562	blood:
42	chr2:58272245..58275889-chr2:58464232..58469335,5	K562	blood:
43	chr2:58382175..58383987-chr2:58385684..58387729,3	MCF-7	breast:
44	chr2:58418370..58420145-chr2:58421628..58423129,2	K562	blood:
45	chr2:58379595..58382000-chr2:58385023..58386619,2	K562	blood:
46	chr2:58444634..58446465-chr2:58458026..58460794,3	MCF-7	breast:
47	chr2:58467038..58468702-chr2:58472950..58475674,2	K562	blood:
48	chr2:58457454..58459312-chr2:58461373..58464013,3	K562	blood:
49	chr2:32264410..32265258-chr2:58467951..58468569,2	HCT-116	colon:
50	chr2:58452149..58455977-chr2:58466804..58469435,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VRK2-9	chr2:58468484-58468821	ENSG00000273063.1

No data

Variant related genes	Relation type
ENSG00000273063	TF binding region
FANCL	TF binding region
EIF3FP3	TF binding region
ENSG00000273063	CpG island
FANCL	CpG island
EIF3FP3	CpG island
ENSG00000131626	chromatin interactions
ENSG00000242110	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000028116	chromatin interactions
ENSG00000124198	chromatin interactions
ENSG00000115392	chromatin interactions
ENSG00000273063	chromatin interactions
ENSG00000013275	chromatin interactions
ENSG00000162961	chromatin interactions
ENSG00000204685	chromatin interactions

Extended variants
information (count: 3861 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:3861 , 50 per page) page: 1 2 3 4 5 6 7 ... 78

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548613360	chr2:58386287-58386288	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs368119259	chr2:58386318-58386319	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146574564	chr2:58386336-58386337	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs140082762	chr2:58386359-58386360	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570786939	chr2:58386369-58386370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs372037880	chr2:58386404-58386405	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185709887	chr2:58386432-58386433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs199954173	chr2:58386446-58386447	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374683786	chr2:58386490-58386491	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369748775	chr2:58386495-58386496	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575242941	chr2:58386514-58386515	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs377436957	chr2:58386529-58386530	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs34038214	chr2:58386546-58386547	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs535874314	chr2:58386560-58386561	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147811379	chr2:58386567-58386568	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572868322	chr2:58386573-58386574	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs201610023	chr2:58386604-58386605	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138006413	chr2:58386628-58386629	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558816519	chr2:58386649-58386650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201239590	chr2:58386673-58386674	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371409919	chr2:58386677-58386678	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374699085	chr2:58386678-58386679	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368279793	chr2:58386679-58386680	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149451697	chr2:58386689-58386690	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562772305	chr2:58386693-58386694	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs148197441	chr2:58386718-58386719	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs199732201	chr2:58386755-58386756	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192754138	chr2:58386773-58386774	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146396399	chr2:58386788-58386789	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560604367	chr2:58386798-58386799	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76348639	chr2:58386805-58386806	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs367894688	chr2:58386832-58386833	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368986645	chr2:58386854-58386855	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372719547	chr2:58386866-58386867	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552335433	chr2:58386867-58386868	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs376006932	chr2:58386881-58386882	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369752377	chr2:58386885-58386886	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545084971	chr2:58386904-58386905	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149803148	chr2:58386913-58386914	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200412376	chr2:58386932-58386933	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373033673	chr2:58386941-58386942	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536835374	chr2:58386972-58386973	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs3732136	chr2:58387000-58387001	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs3732137	chr2:58387009-58387010	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs369523860	chr2:58387037-58387038	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554291694	chr2:58387183-58387184	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs72948815	chr2:58387185-58387186	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs533911686	chr2:58387210-58387211	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188673141	chr2:58387218-58387219	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373854636	chr2:58387225-58387226	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Mental retardation	19951919	CNVD
Myelofibrosis	22110671	CNVD
Microcephaly	20799320	CNVD
camptodactyly	20799320	CNVD
cognitive delay	20799320	CNVD
prenatal and postnatal growth deficiency	20799320	CNVD
ptosis of eyelids	20799320	CNVD
Maculopathy	20981449	CNVD
2p16.1 microdeletion syndrome	22283845	CNVD
Autism	22579565	CNVD
Autism	16963482	CNVD
Autism	21750575	CNVD
idiopathic intellectual disability	16963482	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Multiple myeloma	16616336	CNVD
Follicular lymphoma	17699855	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1868 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58315200-58389600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr2:58346800-58387200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr2:58347800-58386600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr2:58349000-58421200	Weak transcription	Brain Substantia Nigra	brain
5	chr2:58353800-58388200	Weak transcription	Small Intestine	intestine
6	chr2:58358200-58393800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr2:58358400-58389000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr2:58359000-58386600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr2:58359000-58387400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:58359000-58391400	Weak transcription	Fetal Muscle Leg	muscle
11	chr2:58359000-58399000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr2:58359000-58454000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr2:58359200-58395200	Weak transcription	Fetal Stomach	stomach
14	chr2:58359200-58399200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:58359400-58389400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr2:58359800-58392000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr2:58360800-58388600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr2:58363400-58399000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr2:58363600-58406800	Weak transcription	Brain Hippocampus Middle	brain
20	chr2:58365200-58390000	Weak transcription	Psoas Muscle	Psoas
21	chr2:58365600-58438000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr2:58368200-58387400	Weak transcription	NHLF	lung
23	chr2:58368200-58403000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:58368200-58417000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:58368600-58399000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:58370800-58387200	Weak transcription	Brain Anterior Caudate	brain
27	chr2:58372200-58386400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:58373800-58389600	Weak transcription	Thymus	Thymus
29	chr2:58374000-58389400	Weak transcription	Right Ventricle	heart
30	chr2:58374400-58386600	Weak transcription	HUVEC	blood vessel
31	chr2:58374400-58393400	Weak transcription	NHEK	skin
32	chr2:58374400-58397400	Weak transcription	Fetal Heart	heart
33	chr2:58374600-58386600	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr2:58374600-58387400	Weak transcription	HMEC	breast
35	chr2:58379800-58389400	Strong transcription	Primary B cells from cord blood	blood
36	chr2:58380800-58387800	Weak transcription	Fetal Brain Female	brain
37	chr2:58380800-58398800	Weak transcription	Spleen	Spleen
38	chr2:58381000-58398800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:58381200-58391600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr2:58381800-58390000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr2:58382200-58388800	Strong transcription	GM12878-XiMat	blood
42	chr2:58382200-58390200	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr2:58382200-58393200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:58382400-58389200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr2:58382400-58390000	Strong transcription	Adipose Nuclei	Adipose
46	chr2:58382400-58390200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr2:58382400-58390400	Strong transcription	Fetal Intestine Large	intestine
48	chr2:58382400-58391800	Strong transcription	Dnd41	blood
49	chr2:58382600-58386600	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr2:58382600-58390600	Strong transcription	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links