Variant report

Variant	nsv883232
Chromosome Location	chr5:178626437-178805612
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1591)
CpG islands
(count:5923)
Chromatin interactive
region (count:59)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1591 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr5:178729527-178729868	K562	blood:	n/a	n/a
2	ATF1	chr5:178658394-178658571	K562	blood:	n/a	n/a
3	ATF2	chr5:178753597-178754030	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr5:178688256-178688623	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF3	chr5:178763657-178763929	K562	blood:	n/a	n/a
6	BACH1	chr5:178782018-178782023	K562	blood:	n/a	n/a
7	BACH1	chr5:178770779-178771405	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr5:178688361-178688719	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr5:178753623-178753861	H1-hESC	embryonic stem cell:	n/a	n/a
10	BCL3	chr5:178650193-178650886	GM12878	blood:	n/a	n/a
11	BCL3	chr5:178650528-178650927	GM12878	blood:	n/a	n/a
12	BCL3	chr5:178746077-178746614	GM12878	blood:	n/a	n/a
13	BCL3	chr5:178746298-178746633	GM12878	blood:	n/a	n/a
14	BHLHE40	chr5:178703014-178703214	K562	blood:	n/a	n/a
15	BHLHE40	chr5:178800328-178800428	K562	blood:	n/a	n/a
16	BHLHE40	chr5:178639943-178640216	K562	blood:	n/a	n/a
17	BHLHE40	chr5:178695327-178695745	HepG2	liver:	n/a	n/a
18	BHLHE40	chr5:178703446-178703646	K562	blood:	n/a	n/a
19	BHLHE40	chr5:178691705-178692905	HepG2	liver:	n/a	chr5:178692685-178692701 chr5:178692599-178692615
20	BHLHE40	chr5:178722893-178723057	K562	blood:	n/a	chr5:178723031-178723040 chr5:178723031-178723040
21	BHLHE40	chr5:178763708-178763938	K562	blood:	n/a	n/a
22	BHLHE40	chr5:178655800-178656133	K562	blood:	n/a	n/a
23	BHLHE40	chr5:178712032-178712059	K562	blood:	n/a	n/a
24	BRCA1	chr5:178754565-178754676	Hela-S3	cervix:	n/a	n/a
25	CBX3	chr5:178729517-178729803	K562	blood:	n/a	n/a
26	CCNT2	chr5:178772466-178772783	K562	blood:	n/a	n/a
27	CCNT2	chr5:178771882-178771973	K562	blood:	n/a	n/a
28	CCNT2	chr5:178702918-178703113	K562	blood:	n/a	n/a
29	CEBPB	chr5:178670851-178671041	HepG2	liver:	n/a	n/a
30	CEBPB	chr5:178692736-178692932	K562	blood:	n/a	chr5:178692842-178692853
31	CEBPB	chr5:178786162-178786480	Hela-S3	cervix:	n/a	chr5:178786328-178786339
32	CEBPB	chr5:178705679-178705982	IMR90	lung:	n/a	n/a
33	CEBPB	chr5:178691969-178692038	HepG2	liver:	n/a	n/a
34	CEBPB	chr5:178695431-178695549	HepG2	liver:	n/a	n/a
35	CEBPB	chr5:178628311-178628506	A549	lung:	n/a	chr5:178628403-178628414
36	CEBPB	chr5:178688281-178688621	IMR90	lung:	n/a	n/a
37	CEBPB	chr5:178692661-178693037	HepG2	liver:	n/a	chr5:178692842-178692853
38	CEBPB	chr5:178692660-178693031	HepG2	liver:	n/a	chr5:178692842-178692853
39	CEBPB	chr5:178692711-178693040	ECC-1	luminal epithelium:	n/a	chr5:178692842-178692853
40	CEBPB	chr5:178696901-178697251	IMR90	lung:	n/a	n/a
41	CEBPB	chr5:178731436-178731883	IMR90	lung:	n/a	n/a
42	CEBPB	chr5:178648671-178648772	K562	blood:	n/a	chr5:178648732-178648743
43	CEBPB	chr5:178695368-178695660	HepG2	liver:	n/a	n/a
44	CEBPB	chr5:178692615-178693038	HepG2	liver:	n/a	chr5:178692842-178692853
45	CEBPB	chr5:178749384-178749670	IMR90	lung:	n/a	n/a
46	CEBPB	chr5:178783581-178783974	IMR90	lung:	n/a	chr5:178783766-178783775 chr5:178783815-178783826 chr5:178783813-178783824 chr5:178783865-178783878 chr5:178783765-178783776
47	CEBPB	chr5:178692734-178692920	HepG2	liver:	n/a	chr5:178692842-178692853
48	CEBPB	chr5:178688305-178688589	HepG2	liver:	n/a	n/a
49	CEBPB	chr5:178688334-178688561	K562	blood:	n/a	n/a
50	CEBPB	chr5:178628273-178628533	H1-hESC	embryonic stem cell:	n/a	chr5:178628403-178628414

(count:5923 , 50 per page) page: 1 2 3 4 5 6 7 ... 119

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:178655042-178655092	GM19239	blood:	n/a
2	chr5:178771393-178771443	HUVEC	blood vessel:	n/a
3	chr5:178805558-178805608	AG10803	skin:	n/a
4	chr5:178763419-178763469	BJ	skin:	n/a
5	chr5:178771393-178771443	Hela-S3	cervix:	n/a
6	chr5:178636918-178636968	HIPEpiC	eye:	n/a
7	chr5:178655042-178655092	GM19239	blood:	n/a
8	chr5:178771393-178771443	HUVEC	blood vessel:	n/a
9	chr5:178805558-178805608	AG10803	skin:	n/a
10	chr5:178763419-178763469	BJ	skin:	n/a
11	chr5:178771393-178771443	Hela-S3	cervix:	n/a
12	chr5:178636918-178636968	HIPEpiC	eye:	n/a
13	chr5:178656269-178656319	HIPEpiC	eye:	n/a
14	chr5:178753432-178753482	GM12892	blood:	n/a
15	chr5:178770629-178770679	HPAEpiC	pulmonary alveolar:	n/a
16	chr5:178645682-178645732	PFSK-1	brain:	n/a
17	chr5:178631741-178631791	GM19239	blood:	n/a
18	chr5:178647332-178647382	K562	blood:	n/a
19	chr5:178776243-178776293	SK-N-SH	brain:	n/a
20	chr5:178771781-178771831	HL-60	blood:	n/a
21	chr5:178741205-178741255	GM06990	blood:	n/a
22	chr5:178771329-178771379	NT2-D1	testis:	n/a
23	chr5:178799709-178799759	HRCEpiC	kidney:	n/a
24	chr5:178631845-178631895	PrEC	prostate:	n/a
25	chr5:178684652-178684702	HEEpiC	esophagus:	n/a
26	chr5:178667709-178667759	RPTEC	kidney:	n/a
27	chr5:178650512-178650562	A549	lung:	n/a
28	chr5:178741374-178741424	HRE	kidney:	n/a
29	chr5:178741205-178741255	AG04450	lung:	fetal
30	chr5:178776243-178776293	HIPEpiC	eye:	n/a
31	chr5:178650512-178650562	ProgFib	skin:	n/a
32	chr5:178632502-178632552	BE2_C	brain:	n/a
33	chr5:178647332-178647382	SK-N-SH	brain:	n/a
34	chr5:178692691-178692741	ECC-1	luminal epithelium:	n/a
35	chr5:178687984-178688034	NH-A	brain:	n/a
36	chr5:178772372-178772422	HUVEC	blood vessel:	n/a
37	chr5:178770998-178771048	GM12878	blood:	n/a
38	chr5:178784097-178784147	MCF10A-Er-Src	breast:	n/a
39	chr5:178697400-178697450	NHDF-neo	bronchial:	n/a
40	chr5:178803207-178803257	GM19239	blood:	n/a
41	chr5:178712636-178712686	Jurkat	blood:	n/a
42	chr5:178801647-178801697	SK-N-SH	brain:	n/a
43	chr5:178801647-178801697	ECC-1	luminal epithelium:	n/a
44	chr5:178800355-178800405	SK-N-SH_RA	brain:	n/a
45	chr5:178680976-178681026	PrEC	prostate:	n/a
46	chr5:178650512-178650562	HEEpiC	esophagus:	n/a
47	chr5:178634615-178634665	CMK	blood:	n/a
48	chr5:178685787-178685837	SK-N-MC	brain:	n/a
49	chr5:178650512-178650562	HCPEpiC	choroid plexus:	n/a
50	chr5:178667819-178667869	NHBE	bronchial:	n/a

(count:59 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr5:178669552..178671241-chr5:178672789..178674406,2	K562	blood:
2	chr5:178688082..178688899-chr5:178920410..178921212,2	MCF-7	breast:
3	chr5:178770291..178772174-chr5:178775649..178777213,2	MCF-7	breast:
4	chr5:178593807..178594987-chr5:178687910..178688845,5	MCF-7	breast:
5	chr5:178751231..178753197-chr5:178755873..178757949,2	MCF-7	breast:
6	chr5:178774195..178776525-chr5:178779659..178783563,3	K562	blood:
7	chr5:178762053..178764261-chr5:178817559..178819340,2	K562	blood:
8	chr5:178637418..178640045-chr5:178643551..178645345,3	MCF-7	breast:
9	chr5:178219952..178220766-chr5:178688074..178688887,3	MCF-7	breast:
10	chr5:178793109..178796105-chr5:179125384..179128079,2	K562	blood:
11	chr5:178786828..178788661-chr5:178798258..178800552,2	K562	blood:
12	chr5:178650071..178651966-chr5:178658345..178660809,2	MCF-7	breast:
13	chr5:178650614..178652876-chr5:178653305..178655920,2	K562	blood:
14	chr5:178694614..178696474-chr5:178699270..178701166,2	K562	blood:
15	chr5:178639660..178640480-chr5:178701010..178701947,3	MCF-7	breast:
16	chr5:178694647..178697268-chr5:179049140..179050881,2	MCF-7	breast:
17	chr5:178687965..178688655-chr5:178920708..178921301,2	K562	blood:
18	chr5:178649094..178651976-chr5:178660819..178662665,2	MCF-7	breast:
19	chr5:178802308..178804471-chr5:178807615..178809965,2	K562	blood:
20	chr5:178763364..178765890-chr5:178804717..178806886,2	K562	blood:
21	chr5:178673165..178675582-chr5:178682729..178684288,2	MCF-7	breast:
22	chr5:178649094..178651976-chr5:178660819..178662665,2	MCF-7	breast:
23	chr5:178650614..178652876-chr5:178653305..178655920,2	K562	blood:
24	chr5:178799420..178802506-chr5:178805933..178808859,3	K562	blood:
25	chr5:178570203..178571201-chr5:178687913..178688718,3	MCF-7	breast:
26	chr5:178631257..178632902-chr5:178635722..178638591,2	K562	blood:
27	chr5:178669552..178671241-chr5:178672789..178674406,2	K562	blood:
28	chr5:178639660..178640480-chr5:178701010..178701947,3	MCF-7	breast:
29	chr5:178751231..178753197-chr5:178755873..178757949,2	MCF-7	breast:
30	chr5:178626882..178628440-chr5:178635586..178638472,2	MCF-7	breast:
31	chr5:178694614..178696834-chr5:178698467..178700770,2	K562	blood:
32	chr5:178570556..178571105-chr5:178687987..178688905,2	MCF-7	breast:
33	chr5:178780858..178782954-chr5:178784606..178786505,2	MCF-7	breast:
34	chr5:178662646..178664463-chr5:178900746..178903231,2	K562	blood:
35	chr5:178770291..178772174-chr5:178775649..178777213,2	MCF-7	breast:
36	chr5:178639654..178640533-chr5:178687929..178688900,5	MCF-7	breast:
37	chr5:178673165..178675582-chr5:178682729..178684288,2	MCF-7	breast:
38	chr5:178748584..178750238-chr5:178758412..178760319,2	MCF-7	breast:
39	chr5:178780858..178782954-chr5:178784606..178786505,2	MCF-7	breast:
40	chr5:178748584..178750238-chr5:178758412..178760319,2	MCF-7	breast:
41	chr5:178669101..178670915-chr5:178673147..178675746,2	MCF-7	breast:
42	chr5:178719721..178723694-chr5:178743933..178746463,3	K562	blood:
43	chr5:178698907..178700648-chr5:178703533..178706246,2	MCF-7	breast:
44	chr5:178786828..178788661-chr5:178798258..178800552,2	K562	blood:
45	chr5:178694614..178696474-chr5:178699270..178701166,2	K562	blood:
46	chr5:178637418..178640045-chr5:178643551..178645345,3	MCF-7	breast:
47	chr5:178545417..178547035-chr5:178698975..178701216,2	K562	blood:
48	chr5:178626882..178628440-chr5:178635586..178638472,2	MCF-7	breast:
49	chr5:178639654..178640533-chr5:178687929..178688900,5	MCF-7	breast:
50	chr5:178650071..178651966-chr5:178658345..178660809,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADAMTS2-1	chr5:178805537-178805760	XLOC_005105
2	lnc-ADAMTS2-1	chr5:178804601-178804929	XLOC_005105
3	lnc-RUFY1-2	chr5:178804506-178804705	ENSG00000253979

No data

Variant related genes	Relation type
ADAMTS2	TF binding region
ENSG00000253979	TF binding region
ADAMTS2	CpG island
ENSG00000253979	CpG island
ENSG00000169045	chromatin interactions
ENSG00000253163	chromatin interactions
ENSG00000127022	chromatin interactions

Extended variants
information (count: 8895 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:8895 , 50 per page) page: 1 2 3 4 5 6 7 ... 178

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs252060	chr5:178626437-178626438	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs531851092	chr5:178626444-178626445	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs190839095	chr5:178626476-178626477	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs568695126	chr5:178626511-178626512	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs529557405	chr5:178626543-178626544	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs547834559	chr5:178626547-178626548	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs566035951	chr5:178626548-178626549	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs539951422	chr5:178626562-178626563	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs577974868	chr5:178626606-178626607	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs570134305	chr5:178626607-178626608	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs6869589	chr5:178626609-178626610	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs111997864	chr5:178626617-178626618	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs11747650	chr5:178626639-178626640	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs77770971	chr5:178626651-178626652	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs557317417	chr5:178626657-178626658	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs577177437	chr5:178626678-178626679	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs544594043	chr5:178626704-178626705	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs563284930	chr5:178626722-178626723	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs530613391	chr5:178626727-178626728	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs543671764	chr5:178626738-178626739	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs10042679	chr5:178626760-178626761	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs529616711	chr5:178626798-178626799	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs113343410	chr5:178626815-178626816	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs77274102	chr5:178626844-178626845	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs566370680	chr5:178626848-178626849	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533413612	chr5:178626866-178626867	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs139191479	chr5:178626867-178626868	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs149938397	chr5:178626872-178626873	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537516692	chr5:178626892-178626893	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs367642661	chr5:178626898-178626899	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs58399646	chr5:178626965-178626966	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs567405622	chr5:178626972-178626973	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs534613103	chr5:178627005-178627006	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs552888245	chr5:178627023-178627024	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577511363	chr5:178627056-178627057	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs370927541	chr5:178627057-178627058	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs79287550	chr5:178627084-178627085	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs186241543	chr5:178627183-178627184	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs368515302	chr5:178627228-178627229	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150167890	chr5:178627234-178627235	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200419007	chr5:178627240-178627241	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562155237	chr5:178627241-178627242	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62397461	chr5:178627244-178627245	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75097509	chr5:178627245-178627246	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77481814	chr5:178627247-178627248	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191786875	chr5:178627289-178627290	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183125629	chr5:178627310-178627311	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371861124	chr5:178627311-178627312	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567739733	chr5:178627326-178627327	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146478157	chr5:178627327-178627328	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:3540 , 50 per page) page: 1 2 3 4 5 6 7 ... 71

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178594800-178627600	Weak transcription	Right Atrium	heart
2	chr5:178607400-178636200	Weak transcription	HSMM	muscle
3	chr5:178607800-178629000	Weak transcription	NHLF	lung
4	chr5:178619000-178635000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:178619600-178627200	Weak transcription	Fetal Intestine Small	intestine
6	chr5:178619800-178650200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:178620200-178650200	Weak transcription	Fetal Lung	lung
8	chr5:178620400-178636400	Weak transcription	Ovary	ovary
9	chr5:178621000-178630200	Weak transcription	Osteobl	bone
10	chr5:178622200-178631600	Weak transcription	Spleen	Spleen
11	chr5:178622600-178629200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr5:178622600-178630000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr5:178623200-178629600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:178623800-178628000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:178623800-178633200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr5:178623800-178636000	Weak transcription	Adipose Nuclei	Adipose
17	chr5:178623800-178636000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr5:178623800-178640600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr5:178624200-178627200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:178624400-178626600	Strong transcription	Fetal Stomach	stomach
21	chr5:178624400-178627200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr5:178625000-178626800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:178625200-178626800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr5:178625800-178626600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr5:178626000-178626600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr5:178626000-178626800	Strong transcription	HSMMtube	muscle
27	chr5:178626200-178626600	Enhancers	Esophagus	oesophagus
28	chr5:178626200-178626800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr5:178626400-178626600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr5:178626400-178628000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr5:178626600-178629200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:178626600-178629200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr5:178626600-178630200	Weak transcription	Fetal Stomach	stomach
34	chr5:178626600-178630400	Weak transcription	Esophagus	oesophagus
35	chr5:178626800-178628800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr5:178626800-178629000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr5:178626800-178629800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr5:178626800-178636800	Weak transcription	HSMMtube	muscle
39	chr5:178627200-178627600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:178627200-178629600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr5:178627600-178627800	Enhancers	Right Atrium	heart
42	chr5:178627600-178628000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr5:178627600-178628000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:178628000-178628400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr5:178628000-178629200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr5:178628000-178634200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr5:178628400-178629400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr5:178628800-178630000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr5:178629000-178629200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr5:178629000-178630400	Strong transcription	NHLF	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links