Variant report

Variant	nsv907881
Chromosome Location	chr17:20417975-20613642
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1055)
CpG islands
(count:2015)
Chromatin interactive
region (count:2)
LncRNA
region (count:25)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1055 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr17:20552401-20552830	GM12878	blood:	n/a	n/a
2	ATF2	chr17:20552417-20552929	GM12878	blood:	n/a	n/a
3	BATF	chr17:20573899-20574074	GM12878	blood:	n/a	n/a
4	BATF	chr17:20602164-20602479	GM12878	blood:	n/a	n/a
5	BATF	chr17:20568713-20568948	GM12878	blood:	n/a	chr17:20568784-20568795
6	BATF	chr17:20443556-20444223	GM12878	blood:	n/a	n/a
7	BATF	chr17:20552419-20552811	GM12878	blood:	n/a	n/a
8	BATF	chr17:20443708-20444186	GM12878	blood:	n/a	n/a
9	BATF	chr17:20449270-20449503	GM12878	blood:	n/a	n/a
10	BATF	chr17:20552423-20552925	GM12878	blood:	n/a	n/a
11	BATF	chr17:20602187-20602524	GM12878	blood:	n/a	n/a
12	BATF	chr17:20554357-20554645	GM12878	blood:	n/a	n/a
13	BCL11A	chr17:20554375-20554592	GM12878	blood:	n/a	n/a
14	BCL11A	chr17:20602069-20602629	GM12878	blood:	n/a	n/a
15	BCL11A	chr17:20554373-20554609	GM12878	blood:	n/a	n/a
16	BCL11A	chr17:20552438-20552751	GM12878	blood:	n/a	n/a
17	BCL11A	chr17:20443676-20444145	GM12878	blood:	n/a	n/a
18	BCL11A	chr17:20602137-20602533	GM12878	blood:	n/a	n/a
19	BCL11A	chr17:20443777-20444111	GM12878	blood:	n/a	n/a
20	BCL11A	chr17:20581794-20582050	GM12878	blood:	n/a	chr17:20582005-20582012
21	BCL11A	chr17:20552374-20552875	GM12878	blood:	n/a	n/a
22	BCL11A	chr17:20559489-20559685	GM12878	blood:	n/a	n/a
23	BCL11A	chr17:20603932-20604264	GM12878	blood:	n/a	n/a
24	BCL3	chr17:20438566-20438789	GM12878	blood:	n/a	n/a
25	BHLHE40	chr17:20514794-20515059	K562	blood:	n/a	chr17:20514926-20514939 chr17:20514929-20514938 chr17:20514928-20514937
26	BHLHE40	chr17:20602321-20602362	GM12878	blood:	n/a	n/a
27	BHLHE40	chr17:20552469-20552691	GM12878	blood:	n/a	n/a
28	CEBPB	chr17:20474504-20474704	Hela-S3	cervix:	n/a	chr17:20474573-20474584
29	CEBPB	chr17:20568666-20568987	K562	blood:	n/a	chr17:20568791-20568804
30	CEBPB	chr17:20557555-20557814	IMR90	lung:	n/a	chr17:20557790-20557807
31	CEBPB	chr17:20474419-20474705	HepG2	liver:	n/a	chr17:20474573-20474584
32	CEBPB	chr17:20557457-20557822	Hela-S3	cervix:	n/a	chr17:20557790-20557807
33	CEBPB	chr17:20474412-20474706	A549	lung:	n/a	chr17:20474573-20474584
34	CEBPB	chr17:20428677-20428912	K562	blood:	n/a	n/a
35	CEBPB	chr17:20516625-20516934	HepG2	liver:	n/a	n/a
36	CEBPB	chr17:20469051-20469059	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr17:20432904-20432946	K562	blood:	n/a	n/a
38	CEBPB	chr17:20432902-20433054	IMR90	lung:	n/a	chr17:20432946-20432955 chr17:20432944-20432957 chr17:20432944-20432955
39	CEBPB	chr17:20432878-20433065	A549	lung:	n/a	chr17:20432946-20432955 chr17:20432944-20432957 chr17:20432944-20432955
40	CEBPB	chr17:20469063-20469069	K562	blood:	n/a	n/a
41	CEBPB	chr17:20468918-20469141	HepG2	liver:	n/a	chr17:20469062-20469073
42	CEBPB	chr17:20474531-20474698	IMR90	lung:	n/a	chr17:20474573-20474584
43	CHD1	chr17:20434510-20434553	H1-hESC	embryonic stem cell:	n/a	n/a
44	CHD1	chr17:20552549-20552628	GM12878	blood:	n/a	n/a
45	CHD2	chr17:20602331-20602356	GM12878	blood:	n/a	n/a
46	CTCF	chr17:20549859-20550357	SK-N-SH	brain:	n/a	chr17:20550147-20550160
47	CTCF	chr17:20514740-20514890	WERI-Rb-1	eye:	n/a	n/a
48	CTCF	chr17:20570020-20570170	HPAF	blood vessel:	n/a	n/a
49	CTCF	chr17:20592388-20592420	GM10266	blood:	n/a	n/a
50	CTCF	chr17:20550027-20550304	GM19239	blood:	n/a	chr17:20550147-20550160

(count:2015 , 50 per page) page: 1 2 3 4 5 6 7 ... 41

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:20467917-20467967	U87	brain:	n/a
2	chr17:20517129-20517179	SAEC	small airway:	n/a
3	chr17:20467917-20467967	U87	brain:	n/a
4	chr17:20517129-20517179	SAEC	small airway:	n/a
5	chr17:20515873-20515923	A549	lung:	n/a
6	chr17:20489071-20489121	HPAEpiC	pulmonary alveolar:	n/a
7	chr17:20517129-20517179	Jurkat	blood:	n/a
8	chr17:20467965-20468015	HMEC	breast:	n/a
9	chr17:20454132-20454182	NT2-D1	testis:	n/a
10	chr17:20433187-20433237	PFSK-1	brain:	n/a
11	chr17:20458672-20458722	MCF10A-Er-Src	breast:	n/a
12	chr17:20446526-20446576	GM12892	blood:	n/a
13	chr17:20448558-20448608	MCF-7	breast:	n/a
14	chr17:20516172-20516222	AG09319	gingival:	n/a
15	chr17:20458672-20458722	RPTEC	kidney:	n/a
16	chr17:20467831-20467881	HL-60	blood:	n/a
17	chr17:20536885-20536935	MCF10A-Er-Src	breast:	n/a
18	chr17:20464366-20464416	A549	lung:	n/a
19	chr17:20456385-20456435	RPTEC	kidney:	n/a
20	chr17:20492631-20492681	IMR90	lung:	fetal
21	chr17:20493386-20493436	GM06990	blood:	n/a
22	chr17:20464366-20464416	IMR90	lung:	fetal
23	chr17:20456385-20456435	HepG2	liver:	n/a
24	chr17:20454132-20454182	NH-A	brain:	n/a
25	chr17:20460627-20460677	SKMC	muscle:	n/a
26	chr17:20433187-20433237	ECC-1	luminal epithelium:	n/a
27	chr17:20458672-20458722	HPAEpiC	pulmonary alveolar:	n/a
28	chr17:20467965-20468015	BE2_C	brain:	n/a
29	chr17:20480574-20480624	HUVEC	blood vessel:	n/a
30	chr17:20458986-20459036	A549	lung:	n/a
31	chr17:20460627-20460677	ProgFib	skin:	n/a
32	chr17:20493386-20493436	NH-A	brain:	n/a
33	chr17:20493503-20493553	HPAEpiC	pulmonary alveolar:	n/a
34	chr17:20481830-20481880	NHDF-neo	bronchial:	n/a
35	chr17:20467917-20467967	PANC-1	pancreas:	n/a
36	chr17:20460588-20460638	U87	brain:	n/a
37	chr17:20493503-20493553	HRPEpiC	eye:	n/a
38	chr17:20516019-20516069	SAEC	small airway:	n/a
39	chr17:20458986-20459036	PANC-1	pancreas:	n/a
40	chr17:20493503-20493553	ProgFib	skin:	n/a
41	chr17:20467965-20468015	HPAEpiC	pulmonary alveolar:	n/a
42	chr17:20493386-20493436	NB4	blood:	n/a
43	chr17:20536885-20536935	CMK	blood:	n/a
44	chr17:20445757-20445807	MCF10A-Er-Src	breast:	n/a
45	chr17:20517129-20517179	HCPEpiC	choroid plexus:	n/a
46	chr17:20517129-20517179	GM06990	blood:	n/a
47	chr17:20467831-20467881	HEEpiC	esophagus:	n/a
48	chr17:20491042-20491092	SK-N-SH	brain:	n/a
49	chr17:20450466-20450516	HPAEpiC	pulmonary alveolar:	n/a
50	chr17:20516019-20516069	BE2_C	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:18289123..18291183-chr17:20462480..20465308,2	MCF-7	breast:
2	chr17:20610050..20610947-chr17:30454022..30454629,2	Hela-S3	cervix:

(count:25 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LGALS9B-13	chr17:20462661-20462723	NONHSAT146793
2	lnc-LGALS9B-1	chr17:20433355-20434194	ENSG00000260907.1
3	lnc-LGALS9B-12	chr17:20446287-20446510	NONHSAT146601
4	lnc-LGALS9B-2	chr17:20478827-20479172	XLOC_012419
5	lnc-LGALS9B-3	chr17:20516225-20516387	ENSG00000227685.1
6	lnc-LGALS9B-3	chr17:20517801-20517981	ENSG00000227685.1
7	lnc-LGALS9B-3	chr17:20536347-20536572	NONHSAT146828
8	lnc-LGALS9B-2	chr17:20478895-20479010	XLOC_012419
9	lnc-LGALS9B-2	chr17:20478895-20479172	XLOC_012419
10	lnc-LGALS9B-10	chr17:20435561-20436194	NONHSAT146584
11	lnc-LGALS9B-3	chr17:20534785-20534862	ENSG00000227685.1
12	lnc-LGALS9B-2	chr17:20479866-20480107	XLOC_012419
13	lnc-LGALS9B-12	chr17:20446789-20446842	NONHSAT146601
14	lnc-LGALS9B-2	chr17:20481940-20482061	ENSG00000264422.1
15	lnc-LGALS9B-2	chr17:20481940-20482234	XLOC_012419
16	lnc-LGALS9B-2	chr17:20481940-20482234	XLOC_012419
17	lnc-LGALS9B-2	chr17:20479798-20480255	XLOC_012419
18	lnc-LGALS9B-13	chr17:20458740-20458896	NONHSAT146793
19	lnc-LGALS9B-2	chr17:20479980-20480210	ENSG00000264422.1
20	lnc-LGALS9B-12	chr17:20447359-20447436	NONHSAT146601
21	lnc-LGALS9B-13	chr17:20459470-20459532	NONHSAT146793
22	lnc-LGALS9B-2	chr17:20479798-20480107	XLOC_012419
23	lnc-LGALS9B-2	chr17:20479798-20480107	XLOC_012419
24	lnc-LGALS9B-3	chr17:20536350-20536547	ENSG00000227685.1
25	lnc-LGALS9B-2	chr17:20481940-20482149	XLOC_012419

No data

Variant related genes	Relation type
ENSG00000227685	TF binding region
ENSG00000263946	TF binding region
ENSG00000230339	TF binding region
ENSG00000265916	TF binding region
ENSG00000205215	TF binding region
COTL1P2	TF binding region
ENSG00000264422	TF binding region
ZSWIM5P2	TF binding region
ENSG00000232889	TF binding region
ENSG00000235546	TF binding region
ENSG00000266364	TF binding region
CDRT15L2	TF binding region
ENSG00000260907	TF binding region
ENSG00000266042	TF binding region
ENSG00000231645	TF binding region
MEIS3P2	TF binding region
ENSG00000236504	TF binding region
ENSG00000226096	TF binding region
TBC1D3P3	TF binding region
KRT16P3	TF binding region
ENSG00000264981	TF binding region
ENSG00000267075	TF binding region
ENSG00000227685	CpG island
ENSG00000263946	CpG island
ENSG00000230339	CpG island
ENSG00000265916	CpG island
ENSG00000205215	CpG island
COTL1P2	CpG island
ENSG00000264422	CpG island
ZSWIM5P2	CpG island
ENSG00000232889	CpG island
ENSG00000235546	CpG island
ENSG00000266364	CpG island
CDRT15L2	CpG island
ENSG00000260907	CpG island
ENSG00000266042	CpG island
ENSG00000231645	CpG island
MEIS3P2	CpG island
ENSG00000236504	CpG island
ENSG00000226096	CpG island
TBC1D3P3	CpG island
KRT16P3	CpG island
ENSG00000264981	CpG island
ENSG00000267075	CpG island
ENSG00000214860	chromatin interactions
RNF125	miRNA target sites
GTF3C4	miRNA target sites
VPS4B	miRNA target sites

Extended variants
information (count: 4421 )
Associated
traits (count: 153 )

Variant overlapped rSNPs/rCNVs (count:4421 , 50 per page) page: 1 2 3 4 5 6 7 ... 89

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572069971	chr17:20418611-20418612	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs545809189	chr17:20418649-20418650	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs564214929	chr17:20418650-20418651	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs560057136	chr17:20420182-20420183	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs533644118	chr17:20420184-20420185	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs552135986	chr17:20420217-20420218	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs59911309	chr17:20420253-20420254	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs570452827	chr17:20420263-20420264	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs373416651	chr17:20420264-20420265	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs531380406	chr17:20420320-20420321	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs549807921	chr17:20420327-20420328	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs200612424	chr17:20420333-20420334	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs201293256	chr17:20420345-20420346	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs199629341	chr17:20420412-20420413	Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs535612204	chr17:20420418-20420419	Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs553664829	chr17:20420428-20420429	Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs565576064	chr17:20420444-20420445	Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs539340213	chr17:20420445-20420446	Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs16963659	chr17:20420448-20420449	Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs557679944	chr17:20420478-20420479	Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs575984387	chr17:20420492-20420493	Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs543460007	chr17:20420497-20420498	Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs16963676	chr17:20420499-20420500	Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs555794115	chr17:20420508-20420509	Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs574070248	chr17:20420509-20420510	Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs541539576	chr17:20420545-20420546	Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs28393568	chr17:20420551-20420552	Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs199833867	chr17:20420552-20420553	Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs559969292	chr17:20420571-20420572	Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs191628497	chr17:20420572-20420573	Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs375780861	chr17:20420577-20420578	Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs545711876	chr17:20420594-20420595	Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs563974208	chr17:20420642-20420643	Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs201755381	chr17:20420652-20420653	Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs531303024	chr17:20420668-20420669	Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs549533050	chr17:20420693-20420694	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs568077922	chr17:20420716-20420717	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs183654361	chr17:20420717-20420718	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs62068039	chr17:20420719-20420720	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs528965405	chr17:20420722-20420723	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs547132858	chr17:20420727-20420728	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs565537377	chr17:20420734-20420735	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs539255213	chr17:20420749-20420750	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs557593744	chr17:20420754-20420755	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs569627486	chr17:20420763-20420764	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs376556959	chr17:20420776-20420777	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs555451879	chr17:20420802-20420803	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs201667334	chr17:20420803-20420804	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs150994365	chr17:20420805-20420806	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs201115891	chr17:20420838-20420839	Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:153)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
lymphocytic leukemia	21291569	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Chordoma	21602918	CNVD
Miller-Dieker syndrome	22283845	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Cancer	22429812	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Ewing''s sarcoma	21437220	CNVD
Follicular lymphoma	19010834	CNVD
Colorectal cancer	20709793	CNVD
Acute myeloid leukemia	16864856	CNVD
Endometrial cancer	22040021	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Breast cancer	22028636	CNVD
Breast cancer	20837533	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
colon cancer	17210682	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Chronic lymphocytic leukemia	17971485	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16461572	CNVD
Colorectal cancer	16272173	CNVD
Follicular lymphoma	17170743	CNVD
Human rectal carcinomas	16397240	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Moyamoya disease	22323933	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20724749	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Colorectal cancer	21645411	CNVD
HIV/AIDS	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
HIV/AIDS	17953491	CNVD
HIV/AIDS	20877625	CNVD
Immune disease	21076436	CNVD
Rheumatoid arthritis	17953491	CNVD
Type 1 diabetes	17953491	CNVD
HIV/AIDS	15637236	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Neurofibromatosis	18196300	CNVD
Breast cancer	17001317	CNVD
Rhabdomyosarcoma	16790082	CNVD
Charcot-marie-tooth disease	16463004	CNVD
Osteosarcoma	22292074	CNVD
Breast cancer	17603634	CNVD
Charcot	16760730	CNVD
Mental retardation	17901693	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
ovarian endometriomas	16273235	CNVD
Smith-Magenis syndrome	18923513	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	22492990	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	18414209	CNVD
Developmental delay	21549014	CNVD
Epilepsy	20970697	CNVD
Mental retardation	18414209	CNVD
Mental retardation	21549014	CNVD
Smith-Magenis syndrome	21981782	CNVD
Smith-Magenis syndrome	20188345	CNVD
Smith-Magenis syndrome	16775514	CNVD
Smith-Magenis syndrome	22585170	CNVD
Smith-Magenis syndrome	22241247	CNVD
Autism	20970697	CNVD
Mental retardation	19951919	CNVD
Potocki-Lupski syndrome	21271655	CNVD
Potocki-lupski syndrome	17357070	CNVD
Potocki-lupski syndrome	20110824	CNVD
Potocki-lupski syndrome	18923514	CNVD
Potocki-lupski syndrome	22241247	CNVD
Potocki-lupski syndrome	20188345	CNVD
Schizophrenia	21399695	CNVD
Mental retardation	16773131	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Charcot-marie-tooth disease	22470819	CNVD
Neurofibromatosis	22470819	CNVD
Neuropathy	22470819	CNVD
Smith-Magenis syndrome	18301319	CNVD
Smith-Magenis syndrome	17357070	CNVD
Smith-Magenis syndrome	18469339	CNVD
Smith-Magenis syndrome	22241097	CNVD
Smith-Magenis syndrome	22470819	CNVD
Tourette syndrome	18923514	CNVD
Type 1 diabetes	22470819	CNVD
Potocki-lupski syndrome	18469339	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Neuropathy	17597781	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	17015230	CNVD
Smith-Magenis syndrome	17597781	CNVD
Potocki-lupski syndrome	18059269	CNVD
Potocki-lupski syndrome	17597781	CNVD
Mental retardation	17847001	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:529 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20420400-20421000	Active TSS	Fetal Thymus	thymus
2	chr17:20421000-20424800	Weak transcription	Fetal Thymus	thymus
3	chr17:20424800-20425200	Enhancers	Fetal Thymus	thymus
4	chr17:20432800-20433400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr17:20432800-20433800	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr17:20433200-20434400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr17:20433400-20433600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr17:20433400-20434400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr17:20433600-20433800	Enhancers	H1 Cell Line	embryonic stem cell
10	chr17:20433600-20433800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr17:20433600-20434000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr17:20433600-20434200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr17:20433600-20434400	Enhancers	Dnd41	blood
14	chr17:20433800-20434000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr17:20433800-20434200	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr17:20433800-20434400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr17:20433800-20437600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr17:20434000-20434200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr17:20434000-20437600	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr17:20434200-20434400	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr17:20434200-20434400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr17:20434200-20434400	Enhancers	Primary B cells from peripheral blood	blood
23	chr17:20434200-20434400	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr17:20434200-20434400	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr17:20434200-20434400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr17:20434200-20434400	Enhancers	A549	lung
27	chr17:20434200-20434400	Active TSS	Monocytes-CD14+_RO01746	blood
28	chr17:20434200-20437000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
29	chr17:20434200-20437200	Active TSS	H9 Cell Line	embryonic stem cell
30	chr17:20434200-20437200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr17:20434200-20437600	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr17:20434200-20437600	Active TSS	Fetal Thymus	thymus
33	chr17:20434400-20434600	Active TSS	Primary B cells from cord blood	blood
34	chr17:20434400-20434600	Flanking Active TSS	Primary B cells from peripheral blood	blood
35	chr17:20434400-20434600	Enhancers	Primary T cells fromperipheralblood	blood
36	chr17:20434400-20434600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr17:20434400-20434600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr17:20434400-20434600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr17:20434400-20434600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
40	chr17:20434400-20434600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr17:20434400-20434600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr17:20434400-20434600	Active TSS	NHEK	skin
43	chr17:20434400-20434800	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr17:20434400-20434800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr17:20434400-20434800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr17:20434400-20434800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr17:20434400-20434800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr17:20434400-20434800	Active TSS	Primary T cells from cord blood	blood
49	chr17:20434400-20434800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr17:20434400-20434800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links