Variant report

Variant	nsv432730
Chromosome Location	chr5:28551143-28829943
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:28810841-28811178	K562	blood:	n/a	n/a
2	ATF1	chr5:28710259-28710312	K562	blood:	n/a	n/a
3	ATF1	chr5:28633929-28634173	K562	blood:	n/a	n/a
4	ATF1	chr5:28727124-28727126	K562	blood:	n/a	n/a
5	ATF1	chr5:28629799-28629979	K562	blood:	n/a	n/a
6	ATF1	chr5:28748273-28748340	K562	blood:	n/a	n/a
7	BHLHE40	chr5:28808920-28809724	K562	blood:	n/a	n/a
8	BHLHE40	chr5:28814502-28814623	K562	blood:	n/a	n/a
9	BHLHE40	chr5:28751531-28751557	GM12878	blood:	n/a	n/a
10	BHLHE40	chr5:28816335-28816476	K562	blood:	n/a	n/a
11	BHLHE40	chr5:28636212-28636238	GM12878	blood:	n/a	n/a
12	BHLHE40	chr5:28810355-28810693	K562	blood:	n/a	chr5:28810481-28810497 chr5:28810394-28810410
13	BHLHE40	chr5:28748213-28748330	K562	blood:	n/a	n/a
14	BRCA1	chr5:28815213-28815234	Hela-S3	cervix:	n/a	n/a
15	BRCA1	chr5:28727024-28727297	Hela-S3	cervix:	n/a	n/a
16	BRCA1	chr5:28766717-28767229	Hela-S3	cervix:	n/a	n/a
17	CBX3	chr5:28809015-28809399	K562	blood:	n/a	n/a
18	CBX3	chr5:28823321-28823730	K562	blood:	n/a	n/a
19	CBX3	chr5:28823373-28823651	K562	blood:	n/a	n/a
20	CCNT2	chr5:28809192-28810112	K562	blood:	n/a	n/a
21	CCNT2	chr5:28816425-28816641	K562	blood:	n/a	n/a
22	CCNT2	chr5:28585631-28585761	K562	blood:	n/a	n/a
23	CCNT2	chr5:28810313-28810825	K562	blood:	n/a	chr5:28810357-28810366
24	CEBPB	chr5:28743189-28743489	A549	lung:	n/a	chr5:28743323-28743332 chr5:28743323-28743332 chr5:28743322-28743333 chr5:28743323-28743332 chr5:28743321-28743332 chr5:28743321-28743334 chr5:28743323-28743332 chr5:28743321-28743334 chr5:28743321-28743334
25	CEBPB	chr5:28818648-28818936	K562	blood:	n/a	chr5:28818791-28818802
26	CEBPB	chr5:28763630-28763938	K562	blood:	n/a	chr5:28763789-28763800
27	CEBPB	chr5:28703785-28704059	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr5:28713573-28713854	A549	lung:	n/a	n/a
29	CEBPB	chr5:28623857-28624057	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr5:28708665-28708964	H1-hESC	embryonic stem cell:	n/a	n/a
31	CEBPB	chr5:28743173-28743511	HepG2	liver:	n/a	chr5:28743323-28743332 chr5:28743323-28743332 chr5:28743322-28743333 chr5:28743323-28743332 chr5:28743321-28743332 chr5:28743321-28743334 chr5:28743323-28743332 chr5:28743321-28743334 chr5:28743321-28743334
32	CEBPB	chr5:28763632-28764408	HepG2	liver:	n/a	chr5:28764292-28764305 chr5:28763789-28763800
33	CEBPB	chr5:28708674-28708931	MCF-7	breast:	n/a	n/a
34	CEBPB	chr5:28676292-28676416	H1-hESC	embryonic stem cell:	n/a	chr5:28676367-28676380 chr5:28676369-28676380 chr5:28676369-28676378 chr5:28676367-28676378
35	CEBPB	chr5:28763690-28763856	A549	lung:	n/a	chr5:28763789-28763800
36	CEBPB	chr5:28686057-28686307	HepG2	liver:	n/a	n/a
37	CEBPB	chr5:28737268-28738143	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr5:28763702-28764332	Hela-S3	cervix:	n/a	chr5:28764292-28764305 chr5:28763789-28763800
39	CEBPB	chr5:28743140-28743512	IMR90	lung:	n/a	chr5:28743323-28743332 chr5:28743323-28743332 chr5:28743322-28743333 chr5:28743323-28743332 chr5:28743321-28743332 chr5:28743321-28743334 chr5:28743323-28743332 chr5:28743321-28743334 chr5:28743321-28743334
40	CEBPB	chr5:28585069-28585342	HepG2	liver:	n/a	chr5:28585203-28585214 chr5:28585136-28585147
41	CEBPB	chr5:28743153-28743495	K562	blood:	n/a	chr5:28743323-28743332 chr5:28743323-28743332 chr5:28743322-28743333 chr5:28743323-28743332 chr5:28743321-28743332 chr5:28743321-28743334 chr5:28743323-28743332 chr5:28743321-28743334 chr5:28743321-28743334
42	CEBPB	chr5:28635196-28635424	Hela-S3	cervix:	n/a	chr5:28635327-28635338 chr5:28635327-28635340 chr5:28635327-28635340 chr5:28635329-28635340 chr5:28635329-28635338
43	CEBPB	chr5:28676243-28676489	HepG2	liver:	n/a	chr5:28676367-28676380 chr5:28676369-28676380 chr5:28676369-28676378 chr5:28676367-28676378
44	CEBPB	chr5:28708731-28708929	A549	lung:	n/a	n/a
45	CEBPB	chr5:28828802-28828896	A549	lung:	n/a	n/a
46	CEBPB	chr5:28818678-28818966	HepG2	liver:	n/a	chr5:28818791-28818802
47	CEBPB	chr5:28703848-28703955	H1-hESC	embryonic stem cell:	n/a	n/a
48	CEBPB	chr5:28676298-28676468	K562	blood:	n/a	chr5:28676367-28676380 chr5:28676369-28676380 chr5:28676369-28676378 chr5:28676367-28676378
49	CEBPB	chr5:28743140-28743713	Hela-S3	cervix:	n/a	chr5:28743323-28743332 chr5:28743323-28743332 chr5:28743322-28743333 chr5:28743323-28743332 chr5:28743321-28743332 chr5:28743321-28743334 chr5:28743323-28743332 chr5:28743321-28743334 chr5:28743321-28743334
50	CEBPB	chr5:28676283-28676521	IMR90	lung:	n/a	chr5:28676367-28676380 chr5:28676369-28676380 chr5:28676369-28676378 chr5:28676367-28676378

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:28810402-28810452	ProgFib	skin:	n/a
2	chr5:28809622-28809672	HRPEpiC	eye:	n/a
3	chr5:28810402-28810452	ProgFib	skin:	n/a
4	chr5:28809622-28809672	HRPEpiC	eye:	n/a
5	chr5:28596874-28596924	Jurkat	blood:	n/a
6	chr5:28799238-28799288	GM12891	blood:	n/a
7	chr5:28809622-28809672	GM06990	blood:	n/a
8	chr5:28810148-28810198	HPAEpiC	pulmonary alveolar:	n/a
9	chr5:28810148-28810198	HRE	kidney:	n/a
10	chr5:28799238-28799288	SK-N-SH	brain:	n/a
11	chr5:28810402-28810452	AG09319	gingival:	n/a
12	chr5:28799238-28799288	BJ	skin:	n/a
13	chr5:28799238-28799288	LNCaP	prostate:	n/a
14	chr5:28810645-28810695	PrEC	prostate:	n/a
15	chr5:28810645-28810695	CMK	blood:	n/a
16	chr5:28810402-28810452	ovcar-3	ovarian:	n/a
17	chr5:28809121-28809171	HMEC	breast:	n/a
18	chr5:28809997-28810047	AG09319	gingival:	n/a
19	chr5:28809622-28809672	AoSMC	blood vessel:	n/a
20	chr5:28810148-28810198	H1-hESC	embryonic stem cell:	embryo
21	chr5:28596874-28596924	HCM	heart:	n/a
22	chr5:28809997-28810047	SKMC	muscle:	n/a
23	chr5:28810645-28810695	HEK293	kidney:	embryo
24	chr5:28810148-28810198	SAEC	small airway:	n/a
25	chr5:28809121-28809171	HEK293	kidney:	embryo
26	chr5:28596874-28596924	AG09319	gingival:	n/a
27	chr5:28596874-28596924	SK-N-SH	brain:	n/a
28	chr5:28810148-28810198	GM06990	blood:	n/a
29	chr5:28810148-28810198	HNPCEpiC	eye:	n/a
30	chr5:28810645-28810695	GM06990	blood:	n/a
31	chr5:28596874-28596924	HMEC	breast:	n/a
32	chr5:28810402-28810452	AG04449	skin:	fetal
33	chr5:28809121-28809171	SK-N-SH_RA	brain:	n/a
34	chr5:28809037-28809087	AG09309	skin:	n/a
35	chr5:28799238-28799288	HCF	heart:	n/a
36	chr5:28810148-28810198	HRCEpiC	kidney:	n/a
37	chr5:28809997-28810047	Jurkat	blood:	n/a
38	chr5:28809997-28810047	PFSK-1	brain:	n/a
39	chr5:28809121-28809171	SK-N-MC	brain:	n/a
40	chr5:28809997-28810047	Hela-S3	cervix:	n/a
41	chr5:28810148-28810198	HIPEpiC	eye:	n/a
42	chr5:28810402-28810452	AG09309	skin:	n/a
43	chr5:28810645-28810695	NHDF-neo	bronchial:	n/a
44	chr5:28809037-28809087	HCF	heart:	n/a
45	chr5:28810402-28810452	NH-A	brain:	n/a
46	chr5:28809037-28809087	Hepatocyte	liver:	n/a
47	chr5:28596874-28596924	IMR90	lung:	fetal
48	chr5:28809622-28809672	T-47D	breast:	n/a
49	chr5:28809121-28809171	LNCaP	prostate:	n/a
50	chr5:28810402-28810452	HEEpiC	esophagus:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:28473713..28474256-chr5:28575899..28576440,2	MCF-7	breast:
2	chr5:28607591..28610399-chr5:28611364..28613106,2	K562	blood:
3	chr5:28743512..28746337-chr5:28749369..28752061,2	K562	blood:
4	chr5:28647172..28649912-chr5:28655483..28658266,2	K562	blood:
5	chr5:28607591..28610399-chr5:28611364..28613106,2	K562	blood:
6	chr5:28770203..28772237-chr6:49079734..49082291,2	MCF-7	breast:
7	chr5:28743630..28746249-chr5:28809920..28812616,2	K562	blood:
8	chr5:28765020..28766870-chr5:28809812..28812642,2	K562	blood:
9	chr5:28826049..28828145-chr5:28828270..28829851,2	K562	blood:
10	chr5:28622865..28624500-chr5:28625376..28628306,2	MCF-7	breast:
11	chr5:28826049..28828145-chr5:28828270..28829851,2	K562	blood:
12	chr5:28473383..28474265-chr5:28734098..28735113,3	MCF-7	breast:
13	chr5:28344853..28345525-chr5:28576087..28576818,2	MCF-7	breast:
14	chr5:28473336..28474039-chr5:28734455..28735092,2	MCF-7	breast:
15	chr5:28665183..28667336-chr5:28683760..28686377,2	K562	blood:
16	chr5:28344204..28345499-chr5:28766065..28767256,3	MCF-7	breast:
17	chr5:28777228..28779572-chr5:28784624..28787544,2	K562	blood:
18	chr5:28786798..28789363-chr5:28791647..28793398,2	K562	blood:
19	chr5:28806282..28808048-chr5:28853726..28856182,2	K562	blood:
20	chr5:28743512..28746337-chr5:28749369..28752061,2	K562	blood:
21	chr5:28708085..28710925-chr5:28712121..28714327,2	K562	blood:
22	chr5:28805163..28807259-chr5:28812094..28813798,2	K562	blood:
23	chr5:28473399..28474025-chr5:28710323..28711039,2	MCF-7	breast:
24	chr5:28666253..28668874-chr5:28670926..28672814,2	K562	blood:
25	chr5:28779022..28779987-chr5:28896759..28897898,5	MCF-7	breast:
26	chr5:28809387..28811298-chr5:29193650..29195834,2	K562	blood:
27	chr5:28811938..28814493-chr5:28819966..28823203,3	K562	blood:
28	chr1:121484566..121485406-chr5:28783478..28783978,2	MCF-7	breast:
29	chr5:28344802..28345403-chr5:28575923..28576762,2	MCF-7	breast:
30	chr5:28816134..28818756-chr5:28819776..28822041,3	K562	blood:
31	chr5:27139047..27140972-chr5:28754402..28756411,2	MCF-7	breast:
32	chr5:28765020..28766870-chr5:28809812..28812642,2	K562	blood:
33	chr5:28827388..28830378-chr5:28832041..28834686,2	K562	blood:
34	chr5:28743630..28746249-chr5:28809920..28812616,2	K562	blood:
35	chr5:28556590..28559536-chr7:6098281..6100048,2	MCF-7	breast:
36	chr5:28823907..28826639-chr5:28834141..28835828,2	K562	blood:
37	chr17:57913887..57916844-chr5:28684524..28686984,2	MCF-7	breast:
38	chr5:28344669..28345343-chr5:28766345..28767141,3	MCF-7	breast:
39	chr5:28771345..28773063-chr5:28782403..28784396,2	K562	blood:
40	chr5:28805163..28807259-chr5:28812094..28813798,2	K562	blood:
41	chr5:28647172..28649912-chr5:28655483..28658266,2	K562	blood:
42	chr5:28763389..28766520-chr5:28808448..28811312,3	K562	blood:
43	chr5:28786798..28789363-chr5:28791647..28793398,2	K562	blood:
44	chr5:28666253..28668874-chr5:28670926..28672814,2	K562	blood:
45	chr5:28811938..28814493-chr5:28819966..28823203,3	K562	blood:
46	chr5:28622865..28624500-chr5:28625376..28628306,2	MCF-7	breast:
47	chr5:28805922..28808420-chr5:28809202..28811186,4	K562	blood:
48	chr5:28808032..28811102-chr5:28813971..28817710,5	K562	blood:
49	chr5:28771345..28773063-chr5:28782403..28784396,2	K562	blood:
50	chr5:28665183..28667336-chr5:28683760..28686377,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDH6-18	chr5:28602704-28602803	NONHSAT100815
2	lnc-CDH9-6	chr5:28782785-28782942	ENSG00000250453
3	lnc-CDH9-6	chr5:28809063-28809356	ENSG00000250453
4	lnc-CDH6-16	chr5:28808645-28809362	NONHSAT100821
5	lnc-CDH6-17	chr5:28603723-28604954	NONHSAT100817
6	lnc-CDH9-11	chr5:28629932-28630057	NONHSAT100819
7	lnc-CDH6-18	chr5:28602704-28602704	FPKM1_group_25126_transcript_1
8	lnc-CDH9-11	chr5:28625400-28625629	NONHSAT100819

Variant related genes	Relation type
ENSG00000250453	TF binding region
RNU6-909P	TF binding region
ENSG00000270495	TF binding region
ENSG00000250453	CpG island
RNU6-909P	CpG island
ENSG00000270495	CpG island
ENSG00000250453	chromatin interactions
ENSG00000086232	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000270495	chromatin interactions

Extended variants
information (count: 2143 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:2143 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577814564	chr5:28556623-28556624	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs148616177	chr5:28556643-28556644	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs538784014	chr5:28556647-28556648	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs558372012	chr5:28556680-28556681	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs143135875	chr5:28556694-28556695	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs187055829	chr5:28556729-28556730	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs564458397	chr5:28556733-28556734	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs562430014	chr5:28556772-28556773	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs77751508	chr5:28556777-28556778	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs10472134	chr5:28556780-28556781	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs562597268	chr5:28556781-28556782	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs533410492	chr5:28556807-28556808	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs540833309	chr5:28556819-28556820	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs4285234	chr5:28556821-28556822	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs551500463	chr5:28556834-28556835	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs529489753	chr5:28556867-28556868	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs144557529	chr5:28556879-28556880	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs146177023	chr5:28556898-28556899	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs370811292	chr5:28556903-28556904	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs61187858	chr5:28556906-28556907	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs527504704	chr5:28556912-28556913	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs10472647	chr5:28556918-28556919	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs567559169	chr5:28556954-28556955	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs537394654	chr5:28556995-28556996	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs192441884	chr5:28557063-28557064	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs569358880	chr5:28557102-28557103	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs181531436	chr5:28557163-28557164	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs62357847	chr5:28557174-28557175	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs553940106	chr5:28557214-28557215	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs6866860	chr5:28557222-28557223	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs186273022	chr5:28557251-28557252	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs35086443	chr5:28557254-28557255	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs375255416	chr5:28557255-28557256	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs555745823	chr5:28557270-28557271	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs574279912	chr5:28557305-28557306	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs544625408	chr5:28557311-28557312	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs556130178	chr5:28557320-28557321	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs375704236	chr5:28557353-28557354	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs190207136	chr5:28557372-28557373	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs114254314	chr5:28557382-28557383	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs527454961	chr5:28557411-28557412	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs542809798	chr5:28557417-28557418	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs111403937	chr5:28557419-28557420	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs4371765	chr5:28557437-28557438	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs182524506	chr5:28557470-28557471	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs571239538	chr5:28557490-28557491	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs188272247	chr5:28557491-28557492	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs547482025	chr5:28557558-28557559	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs35171040	chr5:28557583-28557584	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs139448744	chr5:28557651-28557652	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Compulsive disorder	18923513	CNVD
Epilepsy	18923513	CNVD
Prader-willi syndrome	18923513	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:28561600-28562200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:28574800-28575600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:28575400-28576000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:28580600-28581600	Enhancers	NH-A	brain
5	chr5:28580800-28581400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:28612600-28613000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:28624600-28626600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:28636200-28636600	Active TSS	A549	lung
9	chr5:28637400-28637800	Active TSS	K562	blood
10	chr5:28648200-28648600	Enhancers	NH-A	brain
11	chr5:28667800-28669000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
12	chr5:28681200-28682200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:28685600-28686200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr5:28703600-28704600	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr5:28703800-28704400	Enhancers	H9 Cell Line	embryonic stem cell
16	chr5:28703800-28704400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr5:28703800-28704600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr5:28703800-28705200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr5:28704000-28704200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:28704000-28704600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr5:28704200-28704600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:28704200-28704600	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr5:28704200-28704600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr5:28704200-28704600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr5:28711200-28711600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:28711600-28715000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:28715000-28715400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:28723800-28724200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr5:28726400-28727600	Enhancers	Hela-S3	cervix
30	chr5:28726600-28727600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr5:28728600-28728800	Enhancers	Liver	Liver
32	chr5:28728800-28729000	Flanking Active TSS	Liver	Liver
33	chr5:28729000-28729400	Active TSS	Liver	Liver
34	chr5:28729400-28730600	Enhancers	Liver	Liver
35	chr5:28732000-28732400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:28733800-28735000	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr5:28734000-28734800	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr5:28734400-28734800	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr5:28734400-28735000	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr5:28734600-28735000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr5:28734800-28735000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr5:28736800-28737800	Enhancers	Hela-S3	cervix
43	chr5:28737800-28743200	Weak transcription	Hela-S3	cervix
44	chr5:28743200-28743600	Enhancers	Fetal Heart	heart
45	chr5:28743200-28743800	Enhancers	Hela-S3	cervix
46	chr5:28743200-28744000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr5:28743400-28743800	Enhancers	Fetal Stomach	stomach
48	chr5:28743400-28744200	Enhancers	NH-A	brain
49	chr5:28752800-28753000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr5:28763200-28763600	Enhancers	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links