Variant report

Variant	nsv581775
Chromosome Location	chr2:48619869-48714938
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1866)
CpG islands
(count:1223)
Chromatin interactive
region (count:105)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1866 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:48667292-48668059	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:48667530-48667810	K562	blood:	n/a	n/a
3	ARID3A	chr2:48698075-48698431	HepG2	liver:	n/a	n/a
4	ARID3A	chr2:48641447-48643593	HepG2	liver:	n/a	n/a
5	ARID3A	chr2:48647856-48648300	HepG2	liver:	n/a	chr2:48648263-48648279
6	ARID3A	chr2:48662165-48662370	HepG2	liver:	n/a	n/a
7	ARID3A	chr2:48674652-48674872	K562	blood:	n/a	n/a
8	ARID3A	chr2:48650664-48650736	HepG2	liver:	n/a	n/a
9	ARID3A	chr2:48675728-48676124	HepG2	liver:	n/a	n/a
10	ARID3A	chr2:48647918-48648395	K562	blood:	n/a	chr2:48648263-48648279
11	ARID3A	chr2:48679297-48679551	K562	blood:	n/a	n/a
12	ARID3A	chr2:48645524-48645797	HepG2	liver:	n/a	n/a
13	ARID3A	chr2:48677888-48678635	HepG2	liver:	n/a	n/a
14	ARID3A	chr2:48698156-48698419	K562	blood:	n/a	n/a
15	ATF1	chr2:48625397-48625664	K562	blood:	n/a	n/a
16	ATF1	chr2:48667550-48667968	K562	blood:	n/a	n/a
17	ATF1	chr2:48679268-48679595	K562	blood:	n/a	n/a
18	ATF2	chr2:48667556-48667908	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF2	chr2:48647788-48648178	H1-hESC	embryonic stem cell:	n/a	n/a
20	ATF2	chr2:48675414-48676231	GM12878	blood:	n/a	n/a
21	ATF2	chr2:48647819-48648264	GM12878	blood:	n/a	n/a
22	ATF2	chr2:48667229-48668006	GM12878	blood:	n/a	n/a
23	ATF2	chr2:48647681-48648144	GM12878	blood:	n/a	n/a
24	ATF2	chr2:48675415-48676646	GM12878	blood:	n/a	n/a
25	ATF3	chr2:48647752-48648198	K562	blood:	n/a	n/a
26	ATF3	chr2:48674601-48674952	K562	blood:	n/a	n/a
27	ATF3	chr2:48647740-48648262	A549	lung:	n/a	n/a
28	ATF3	chr2:48647605-48648237	A549	lung:	n/a	n/a
29	ATF3	chr2:48647812-48648177	H1-hESC	embryonic stem cell:	n/a	n/a
30	BACH1	chr2:48667436-48667656	K562	blood:	n/a	n/a
31	BACH1	chr2:48647837-48648132	H1-hESC	embryonic stem cell:	n/a	n/a
32	BATF	chr2:48675851-48676201	GM12878	blood:	n/a	n/a
33	BCL11A	chr2:48675840-48676202	GM12878	blood:	n/a	n/a
34	BCL11A	chr2:48675843-48676122	GM12878	blood:	n/a	n/a
35	BCL11A	chr2:48675383-48675687	GM12878	blood:	n/a	n/a
36	BCL3	chr2:48694580-48694941	GM12878	blood:	n/a	n/a
37	BCL3	chr2:48633958-48634206	GM12878	blood:	n/a	n/a
38	BCL3	chr2:48647501-48648398	A549	lung:	n/a	chr2:48648321-48648328
39	BCL3	chr2:48694574-48694865	GM12878	blood:	n/a	n/a
40	BCL3	chr2:48667156-48667950	A549	lung:	n/a	chr2:48667888-48667897 chr2:48667931-48667940
41	BCL3	chr2:48667283-48667975	A549	lung:	n/a	chr2:48667888-48667897 chr2:48667931-48667940
42	BCLAF1	chr2:48647847-48648226	GM12878	blood:	n/a	n/a
43	BCLAF1	chr2:48667199-48668375	GM12878	blood:	n/a	chr2:48667888-48667897 chr2:48668078-48668087 chr2:48667931-48667940 chr2:48668185-48668198
44	BCLAF1	chr2:48647780-48648306	GM12878	blood:	n/a	n/a
45	BCLAF1	chr2:48675778-48676526	GM12878	blood:	n/a	n/a
46	BHLHE40	chr2:48647799-48648183	K562	blood:	n/a	n/a
47	BHLHE40	chr2:48667402-48668177	HepG2	liver:	n/a	n/a
48	BHLHE40	chr2:48667440-48668273	K562	blood:	n/a	n/a
49	BHLHE40	chr2:48667158-48668415	GM12878	blood:	n/a	n/a
50	BHLHE40	chr2:48674566-48674822	K562	blood:	n/a	n/a

(count:1223 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:48664738-48664788	NHBE	bronchial:	n/a
2	chr2:48668251-48668301	ovcar-3	ovarian:	n/a
3	chr2:48667887-48667937	HEEpiC	esophagus:	n/a
4	chr2:48664738-48664788	NHBE	bronchial:	n/a
5	chr2:48668251-48668301	ovcar-3	ovarian:	n/a
6	chr2:48667887-48667937	HEEpiC	esophagus:	n/a
7	chr2:48667747-48667797	BJ	skin:	n/a
8	chr2:48668145-48668195	BE2_C	brain:	n/a
9	chr2:48667825-48667875	HepG2	liver:	n/a
10	chr2:48710712-48710762	GM12878	blood:	n/a
11	chr2:48664738-48664788	SK-N-SH_RA	brain:	n/a
12	chr2:48668145-48668195	HL-60	blood:	n/a
13	chr2:48648025-48648075	PrEC	prostate:	n/a
14	chr2:48668020-48668070	HepG2	liver:	n/a
15	chr2:48667825-48667875	RPTEC	kidney:	n/a
16	chr2:48647546-48647596	MCF-7	breast:	n/a
17	chr2:48667654-48667704	HNPCEpiC	eye:	n/a
18	chr2:48667639-48667689	Jurkat	blood:	n/a
19	chr2:48642414-48642464	HCM	heart:	n/a
20	chr2:48667654-48667704	HRPEpiC	eye:	n/a
21	chr2:48667531-48667581	BJ	skin:	n/a
22	chr2:48677627-48677677	SK-N-SH_RA	brain:	n/a
23	chr2:48671699-48671749	HepG2	liver:	n/a
24	chr2:48647546-48647596	GM12891	blood:	n/a
25	chr2:48667531-48667581	SAEC	small airway:	n/a
26	chr2:48667807-48667857	BE2_C	brain:	n/a
27	chr2:48648104-48648154	AG09319	gingival:	n/a
28	chr2:48667825-48667875	ECC-1	luminal epithelium:	n/a
29	chr2:48677627-48677677	HepG2	liver:	n/a
30	chr2:48667874-48667924	HCM	heart:	n/a
31	chr2:48667747-48667797	GM12878	blood:	n/a
32	chr2:48667874-48667924	HPAEpiC	pulmonary alveolar:	n/a
33	chr2:48667825-48667875	SK-N-MC	brain:	n/a
34	chr2:48671699-48671749	Jurkat	blood:	n/a
35	chr2:48710712-48710762	HCM	heart:	n/a
36	chr2:48664738-48664788	HEK293	kidney:	embryo
37	chr2:48647546-48647596	PANC-1	pancreas:	n/a
38	chr2:48667654-48667704	NT2-D1	testis:	n/a
39	chr2:48668145-48668195	HCF	heart:	n/a
40	chr2:48642414-48642464	NH-A	brain:	n/a
41	chr2:48667639-48667689	AG10803	skin:	n/a
42	chr2:48667887-48667937	SAEC	small airway:	n/a
43	chr2:48710712-48710762	GM06990	blood:	n/a
44	chr2:48642414-48642464	ECC-1	luminal epithelium:	n/a
45	chr2:48667874-48667924	MCF10A-Er-Src	breast:	n/a
46	chr2:48668145-48668195	PANC-1	pancreas:	n/a
47	chr2:48648025-48648075	IMR90	lung:	fetal
48	chr2:48648104-48648154	CMK	blood:	n/a
49	chr2:48667747-48667797	HNPCEpiC	eye:	n/a
50	chr2:48667531-48667581	HCT-116	colon:	n/a

(count:105 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr2:48676938..48678484-chr2:48681452..48684358,2	K562	blood:
2	chr1:153962792..153963676-chr2:48667297..48668086,2	Hela-S3	cervix:
3	chr2:48333421..48335488-chr2:48695315..48698262,2	K562	blood:
4	chr2:48671387..48674060-chr2:48675787..48677578,2	K562	blood:
5	chr2:48539557..48542081-chr2:48666297..48668955,4	MCF-7	breast:
6	chr2:48676938..48678484-chr2:48681452..48684358,2	K562	blood:
7	chr2:48145654..48147755-chr2:48678957..48680778,2	K562	blood:
8	chr17:62500259..62503119-chr2:48667200..48670117,2	MCF-7	breast:
9	chr2:48652219..48654602-chr2:48666881..48668587,2	MCF-7	breast:
10	chr2:48540805..48543133-chr2:48691336..48694309,2	K562	blood:
11	chr2:48339056..48340844-chr2:48670929..48673082,2	K562	blood:
12	chr2:48667058..48667588-chr3:186288059..186288961,2	Hela-S3	cervix:
13	chr2:48648611..48650964-chr2:48651861..48653662,2	MCF-7	breast:
14	chr2:48337541..48339290-chr2:48647557..48648526,13	MCF-7	breast:
15	chr2:48712026..48714820-chr2:48719875..48721592,2	K562	blood:
16	chr2:48645150..48646743-chr2:48650153..48652145,2	MCF-7	breast:
17	chr2:48668357..48671385-chr2:48673634..48677025,4	K562	blood:
18	chr2:48633890..48635428-chr2:48640629..48643120,2	K562	blood:
19	chr2:48541412..48543498-chr2:48651556..48653117,2	K562	blood:
20	chr2:48647311..48649443-chr2:48666220..48667845,2	MCF-7	breast:
21	chr2:48655319..48657262-chr2:48667568..48669240,2	K562	blood:
22	chr2:48667796..48668307-chr3:170074902..170075694,2	Hela-S3	cervix:
23	chr2:48712939..48715886-chr2:48719769..48722227,2	MCF-7	breast:
24	chr2:48648611..48650964-chr2:48651861..48653662,2	MCF-7	breast:
25	chr2:48666828..48669731-chr2:48691807..48694698,2	MCF-7	breast:
26	chr2:48010725..48012661-chr2:48674765..48677186,2	K562	blood:
27	chr2:48671546..48674285-chr2:48724778..48726392,2	MCF-7	breast:
28	chr2:48667785..48669496-chr2:48677557..48679118,2	K562	blood:
29	chr1:25757159..25757659-chr2:48667961..48668464,2	Hela-S3	cervix:
30	chr2:48689547..48691665-chr2:48695369..48698344,3	K562	blood:
31	chr2:48540493..48542753-chr2:48643021..48644548,2	K562	blood:
32	chr2:48540677..48543829-chr2:48665802..48669252,3	K562	blood:
33	chr2:48673221..48675776-chr2:48684217..48685788,2	MCF-7	breast:
34	chr2:48420748..48422643-chr2:48628237..48631229,2	K562	blood:
35	chr2:48337576..48339769-chr2:48655484..48657436,2	MCF-7	breast:
36	chr2:48540572..48542662-chr2:48702493..48704566,2	K562	blood:
37	chr2:48009330..48011315-chr2:48667151..48669363,2	MCF-7	breast:
38	chr2:48692373..48694497-chr2:48695624..48697843,2	MCF-7	breast:
39	chr2:48694010..48695584-chr2:48696649..48698358,2	MCF-7	breast:
40	chr2:48695108..48697075-chr2:48713631..48716190,2	K562	blood:
41	chr2:48398522..48400210-chr2:48663770..48666421,2	K562	blood:
42	chr2:48333414..48334265-chr2:48647971..48648489,2	K562	blood:
43	chr2:48671387..48674060-chr2:48675787..48677578,2	K562	blood:
44	chr2:48666372..48668105-chr2:48676694..48678547,2	MCF-7	breast:
45	chr2:48643733..48645696-chr2:48650632..48652708,2	K562	blood:
46	chr2:48670330..48672555-chr2:48677413..48681489,3	MCF-7	breast:
47	chr2:48649795..48653171-chr2:48665814..48667830,3	K562	blood:
48	chr2:48335435..48337113-chr2:48675018..48677889,2	K562	blood:
49	chr2:48698342..48700177-chr2:48704128..48705717,2	K562	blood:
50	chr2:48337730..48339827-chr2:48662908..48664410,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LHCGR-2	chr2:48667224-48667870	NONHSAT070622
2	lnc-LHCGR-2	chr2:48667182-48667736	ENSG00000272663.1

No data

Variant related genes	Relation type
ENSG00000272663	TF binding region
PPP1R21	TF binding region
ENSG00000272663	CpG island
PPP1R21	CpG island
ENSG00000233230	chromatin interactions
ENSG00000090520	chromatin interactions
ENSG00000177954	chromatin interactions
ENSG00000138081	chromatin interactions
ENSG00000136603	chromatin interactions
ENSG00000258890	chromatin interactions
ENSG00000272663	chromatin interactions
ENSG00000197956	chromatin interactions
ENSG00000108654	chromatin interactions
ENSG00000272525	chromatin interactions
ENSG00000143933	chromatin interactions
ENSG00000170802	chromatin interactions
ENSG00000204178	chromatin interactions
ENSG00000162869	chromatin interactions
ENSG00000116062	chromatin interactions
ENSG00000145741	chromatin interactions
ENSG00000113838	chromatin interactions

Extended variants
information (count: 4299 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:4299 , 50 per page) page: 1 2 3 4 5 6 7 ... 86

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7578522	chr2:48619869-48619870	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs560078811	chr2:48619940-48619941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115070767	chr2:48619945-48619946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187365338	chr2:48619949-48619950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561552655	chr2:48619958-48619959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145518247	chr2:48619967-48619968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191984978	chr2:48619972-48619973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544390245	chr2:48619994-48619995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75424672	chr2:48620021-48620022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs147725375	chr2:48620083-48620084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142592261	chr2:48620135-48620136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566430196	chr2:48620174-48620175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs527392874	chr2:48620180-48620181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549142112	chr2:48620191-48620192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567354343	chr2:48620207-48620208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568795424	chr2:48620224-48620225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144916700	chr2:48620233-48620234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs114533115	chr2:48620238-48620239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571860470	chr2:48620239-48620240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182605984	chr2:48620279-48620280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553751269	chr2:48620282-48620283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572065994	chr2:48620300-48620301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs542600941	chr2:48620321-48620322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187662366	chr2:48620330-48620331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576460408	chr2:48620357-48620358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544111845	chr2:48620366-48620367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562675817	chr2:48620467-48620468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533268880	chr2:48620487-48620488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs151338017	chr2:48620502-48620503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201309178	chr2:48620505-48620506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560463600	chr2:48620521-48620522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs568350399	chr2:48620538-48620539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs12470638	chr2:48620547-48620548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs4547570	chr2:48620587-48620588	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs116904704	chr2:48620627-48620628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531404983	chr2:48620670-48620671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78694550	chr2:48620682-48620683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs61592994	chr2:48620703-48620704	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs74628453	chr2:48620711-48620712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10197056	chr2:48620749-48620750	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs542271425	chr2:48620780-48620781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191532501	chr2:48620822-48620823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs557899926	chr2:48620838-48620839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182469922	chr2:48620868-48620869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572945816	chr2:48620871-48620872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371756996	chr2:48620876-48620877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576482562	chr2:48620901-48620902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543852436	chr2:48620906-48620907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187107670	chr2:48620914-48620915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150096224	chr2:48620942-48620943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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
Bladder cancer	21909424	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
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:3207 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48619200-48622800	Weak transcription	HepG2	liver
2	chr2:48619200-48624600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:48619400-48622400	Weak transcription	Fetal Intestine Small	intestine
4	chr2:48619400-48622800	Weak transcription	Adipose Nuclei	Adipose
5	chr2:48619400-48623000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr2:48619400-48623000	Weak transcription	Fetal Intestine Large	intestine
7	chr2:48619400-48624000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:48619400-48624600	Weak transcription	Brain Angular Gyrus	brain
9	chr2:48619400-48624600	Weak transcription	Brain Anterior Caudate	brain
10	chr2:48619400-48624600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr2:48619400-48625400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:48619600-48624400	Weak transcription	Brain Hippocampus Middle	brain
13	chr2:48621200-48623600	Weak transcription	Primary B cells from cord blood	blood
14	chr2:48622400-48623000	ZNF genes & repeats	Fetal Intestine Small	intestine
15	chr2:48622600-48622800	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr2:48622600-48622800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:48622600-48622800	Enhancers	Dnd41	blood
18	chr2:48622600-48623200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:48622600-48623400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr2:48622600-48623600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr2:48622600-48623600	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr2:48622800-48623200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr2:48622800-48623200	Enhancers	Primary B cells from peripheral blood	blood
24	chr2:48622800-48623200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr2:48622800-48623200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:48622800-48623200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr2:48622800-48623200	Enhancers	Adipose Nuclei	Adipose
28	chr2:48622800-48623200	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr2:48622800-48623200	Flanking Active TSS	Dnd41	blood
30	chr2:48622800-48623400	Enhancers	HepG2	liver
31	chr2:48622800-48623400	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr2:48622800-48623600	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr2:48622800-48623600	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr2:48622800-48623600	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr2:48622800-48623600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr2:48622800-48623600	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr2:48622800-48623600	Enhancers	Duodenum Mucosa	Duodenum
38	chr2:48622800-48623600	Enhancers	Fetal Thymus	thymus
39	chr2:48622800-48623800	Enhancers	Primary T cells fromperipheralblood	blood
40	chr2:48622800-48623800	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr2:48622800-48623800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr2:48622800-48623800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr2:48622800-48624000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr2:48622800-48624200	Enhancers	Primary T cells from cord blood	blood
45	chr2:48623000-48623200	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr2:48623000-48623600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr2:48623000-48623600	Enhancers	Fetal Intestine Large	intestine
48	chr2:48623000-48623600	Enhancers	Fetal Intestine Small	intestine
49	chr2:48623200-48623600	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr2:48623200-48623800	Enhancers	Dnd41	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links