Variant report

Variant	nsv1065710
Chromosome Location	chr17:17328111-17391443
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1598)
CpG islands
(count:1223)
Chromatin interactive
region (count:91)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1598 , 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	ARID3A	chr17:17338615-17338970	HepG2	liver:	n/a	n/a
2	ARID3A	chr17:17348967-17350218	HepG2	liver:	n/a	n/a
3	ARID3A	chr17:17336791-17336877	HepG2	liver:	n/a	n/a
4	ARID3A	chr17:17343355-17343673	HepG2	liver:	n/a	n/a
5	ARID3A	chr17:17380303-17380618	HepG2	liver:	n/a	n/a
6	ATF1	chr17:17376794-17376993	K562	blood:	n/a	n/a
7	ATF1	chr17:17380100-17380491	K562	blood:	n/a	n/a
8	ATF2	chr17:17387871-17388254	GM12878	blood:	n/a	n/a
9	ATF2	chr17:17380050-17380548	GM12878	blood:	n/a	n/a
10	ATF3	chr17:17380110-17380455	HepG2	liver:	n/a	chr17:17380281-17380290 chr17:17380282-17380302
11	ATF3	chr17:17380057-17380511	GM12878	blood:	n/a	chr17:17380281-17380290 chr17:17380282-17380302
12	ATF3	chr17:17380150-17380474	H1-hESC	embryonic stem cell:	n/a	chr17:17380281-17380290 chr17:17380282-17380302
13	ATF3	chr17:17380115-17380489	K562	blood:	n/a	chr17:17380281-17380290 chr17:17380282-17380302
14	ATF3	chr17:17380074-17380550	A549	lung:	n/a	chr17:17380281-17380290 chr17:17380282-17380302
15	ATF3	chr17:17338425-17338994	A549	lung:	n/a	n/a
16	ATF3	chr17:17349183-17350009	A549	lung:	n/a	n/a
17	ATF3	chr17:17380189-17380407	GM12878	blood:	n/a	chr17:17380281-17380290 chr17:17380282-17380302
18	ATF3	chr17:17349167-17350217	A549	lung:	n/a	n/a
19	ATF3	chr17:17380140-17380474	K562	blood:	n/a	chr17:17380281-17380290 chr17:17380282-17380302
20	ATF3	chr17:17352145-17352313	K562	blood:	n/a	n/a
21	ATF3	chr17:17380060-17380556	HepG2	liver:	n/a	chr17:17380281-17380290 chr17:17380282-17380302
22	ATF3	chr17:17380149-17380488	H1-hESC	embryonic stem cell:	n/a	chr17:17380281-17380290 chr17:17380282-17380302
23	BACH1	chr17:17343409-17344051	H1-hESC	embryonic stem cell:	n/a	n/a
24	BATF	chr17:17387900-17388253	GM12878	blood:	n/a	chr17:17388050-17388059
25	BCL3	chr17:17343257-17343960	A549	lung:	n/a	n/a
26	BCL3	chr17:17338460-17339116	A549	lung:	n/a	n/a
27	BCL3	chr17:17348977-17350181	A549	lung:	n/a	chr17:17349663-17349672 chr17:17349493-17349502
28	BCL3	chr17:17349053-17350073	A549	lung:	n/a	chr17:17349663-17349672 chr17:17349493-17349502
29	BCL3	chr17:17380075-17380883	A549	lung:	n/a	chr17:17380211-17380220 chr17:17380271-17380284
30	BCLAF1	chr17:17380128-17380568	GM12878	blood:	n/a	chr17:17380211-17380220 chr17:17380271-17380284
31	BHLHE40	chr17:17349466-17349957	HepG2	liver:	n/a	n/a
32	BHLHE40	chr17:17380168-17380514	GM12878	blood:	n/a	n/a
33	BHLHE40	chr17:17338684-17338974	K562	blood:	n/a	n/a
34	BHLHE40	chr17:17380236-17380590	K562	blood:	n/a	n/a
35	BHLHE40	chr17:17365437-17365962	HepG2	liver:	n/a	n/a
36	BRCA1	chr17:17380104-17380481	Hela-S3	cervix:	n/a	n/a
37	BRCA1	chr17:17349376-17349751	HepG2	liver:	n/a	n/a
38	BRCA1	chr17:17380149-17380444	H1-hESC	embryonic stem cell:	n/a	n/a
39	BRCA1	chr17:17380222-17380493	GM12878	blood:	n/a	n/a
40	BRCA1	chr17:17380179-17380411	HepG2	liver:	n/a	n/a
41	BRCA1	chr17:17349367-17349999	Hela-S3	cervix:	n/a	n/a
42	BRCA1	chr17:17338669-17338908	Hela-S3	cervix:	n/a	n/a
43	CBX3	chr17:17343275-17343681	K562	blood:	n/a	n/a
44	CBX3	chr17:17380179-17380490	K562	blood:	n/a	n/a
45	CBX3	chr17:17343171-17343831	HCT-116	colon:	n/a	n/a
46	CBX3	chr17:17327816-17328343	K562	blood:	n/a	n/a
47	CBX3	chr17:17327856-17328305	K562	blood:	n/a	n/a
48	CCNT2	chr17:17380190-17380570	K562	blood:	n/a	chr17:17380200-17380209 chr17:17380268-17380277
49	CEBPB	chr17:17380587-17380813	HepG2	liver:	n/a	n/a
50	CEBPB	chr17:17337787-17338208	A549	lung:	n/a	chr17:17337987-17337998

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:17377803-17377853	HCPEpiC	choroid plexus:	n/a
2	chr17:17359821-17359871	HEK293	kidney:	embryo
3	chr17:17379109-17379159	HRPEpiC	eye:	n/a
4	chr17:17377803-17377853	HCPEpiC	choroid plexus:	n/a
5	chr17:17359821-17359871	HEK293	kidney:	embryo
6	chr17:17379109-17379159	HRPEpiC	eye:	n/a
7	chr17:17377803-17377853	ECC-1	luminal epithelium:	n/a
8	chr17:17359719-17359769	HCPEpiC	choroid plexus:	n/a
9	chr17:17380423-17380473	T-47D	breast:	n/a
10	chr17:17380217-17380267	HRPEpiC	eye:	n/a
11	chr17:17383910-17383960	AG09319	gingival:	n/a
12	chr17:17338842-17338892	LNCaP	prostate:	n/a
13	chr17:17343875-17343925	HIPEpiC	eye:	n/a
14	chr17:17377803-17377853	SK-N-SH	brain:	n/a
15	chr17:17359821-17359871	ProgFib	skin:	n/a
16	chr17:17389863-17389913	HRPEpiC	eye:	n/a
17	chr17:17380209-17380259	GM06990	blood:	n/a
18	chr17:17359719-17359769	AG04450	lung:	fetal
19	chr17:17359737-17359787	PANC-1	pancreas:	n/a
20	chr17:17379752-17379802	HAEpiC	amniotic membrane:	n/a
21	chr17:17383910-17383960	SK-N-SH_RA	brain:	n/a
22	chr17:17379109-17379159	GM06990	blood:	n/a
23	chr17:17380635-17380685	HMEC	breast:	n/a
24	chr17:17380313-17380363	PFSK-1	brain:	n/a
25	chr17:17380423-17380473	LNCaP	prostate:	n/a
26	chr17:17379752-17379802	AG09319	gingival:	n/a
27	chr17:17343875-17343925	HEK293	kidney:	embryo
28	chr17:17380423-17380473	HCPEpiC	choroid plexus:	n/a
29	chr17:17389971-17390021	HEEpiC	esophagus:	n/a
30	chr17:17389863-17389913	NHBE	bronchial:	n/a
31	chr17:17359737-17359787	CMK	blood:	n/a
32	chr17:17390793-17390843	AG09309	skin:	n/a
33	chr17:17377803-17377853	Hepatocyte	liver:	n/a
34	chr17:17377803-17377853	NHDF-neo	bronchial:	n/a
35	chr17:17389971-17390021	ProgFib	skin:	n/a
36	chr17:17379752-17379802	BE2_C	brain:	n/a
37	chr17:17383910-17383960	NHBE	bronchial:	n/a
38	chr17:17349669-17349719	A549	lung:	n/a
39	chr17:17379358-17379408	GM06990	blood:	n/a
40	chr17:17349669-17349719	AG04450	lung:	fetal
41	chr17:17359719-17359769	PFSK-1	brain:	n/a
42	chr17:17359737-17359787	Caco-2	colon:	n/a
43	chr17:17380635-17380685	NHBE	bronchial:	n/a
44	chr17:17389863-17389913	HRE	kidney:	n/a
45	chr17:17390793-17390843	GM12892	blood:	n/a
46	chr17:17380209-17380259	CMK	blood:	n/a
47	chr17:17380217-17380267	HIPEpiC	eye:	n/a
48	chr17:17389863-17389913	PFSK-1	brain:	n/a
49	chr17:17380217-17380267	AG04449	skin:	fetal
50	chr17:17349669-17349719	AG10803	skin:	n/a

(count:91 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr17:17382779..17384449-chr17:17466823..17468946,2	MCF-7	breast:
2	chr17:17324473..17327302-chr17:17336395..17338556,2	MCF-7	breast:
3	chr17:17347836..17349791-chr17:17356884..17358605,2	MCF-7	breast:
4	chr17:17356389..17359026-chr17:17360679..17363170,2	MCF-7	breast:
5	chr17:17384082..17386692-chr17:17387080..17388772,2	MCF-7	breast:
6	chr17:17346012..17348708-chr17:17349032..17351296,2	MCF-7	breast:
7	chr17:17348329..17350736-chr18:19191275..19193632,2	MCF-7	breast:
8	chr17:17380272..17389088-chr17:17391260..17395887,13	K562	blood:
9	chr17:17335771..17338449-chr17:17342663..17345052,2	MCF-7	breast:
10	chr17:17255909..17258113-chr17:17342308..17343826,2	MCF-7	breast:
11	chr17:17349350..17351226-chr17:17382738..17384846,2	K562	blood:
12	chr17:17341170..17345071-chr17:17347034..17351413,6	MCF-7	breast:
13	chr17:17344282..17356772-chr17:17394630..17405312,31	MCF-7	breast:
14	chr17:17347836..17349791-chr17:17356884..17358605,2	MCF-7	breast:
15	chr17:17337262..17338945-chr17:17347016..17349151,2	MCF-7	breast:
16	chr17:17379236..17381999-chr17:17395224..17401626,6	MCF-7	breast:
17	chr17:17389683..17393183-chr17:17396173..17400344,4	K562	blood:
18	chr17:17382327..17386627-chr17:17397610..17400464,6	MCF-7	breast:
19	chr17:17296607..17299320-chr17:17351400..17353200,2	MCF-7	breast:
20	chr17:17347895..17349442-chr17:17385421..17387724,2	MCF-7	breast:
21	chr17:17344606..17346836-chr17:17348575..17350374,2	K562	blood:
22	chr17:17346876..17348557-chr17:17721789..17724493,2	MCF-7	breast:
23	chr17:17347895..17349442-chr17:17385421..17387724,2	MCF-7	breast:
24	chr17:17347145..17349329-chr17:17355004..17356599,2	MCF-7	breast:
25	chr17:17335195..17342131-chr17:17347291..17351486,7	MCF-7	breast:
26	chr17:17345336..17348353-chr17:17348575..17352300,3	K562	blood:
27	chr17:17319589..17321575-chr17:17348151..17350364,2	MCF-7	breast:
28	chr17:17290573..17292126-chr17:17346940..17348569,2	MCF-7	breast:
29	chr17:17261706..17263855-chr17:17343198..17345189,2	MCF-7	breast:
30	chr17:17335771..17338449-chr17:17342663..17345052,2	MCF-7	breast:
31	chr17:17336920..17339471-chr17:17342851..17344452,2	MCF-7	breast:
32	chr17:17338847..17340811-chr17:17396652..17398902,2	MCF-7	breast:
33	chr17:17290560..17292342-chr17:17378041..17380234,2	MCF-7	breast:
34	chr17:17367351..17374142-chr17:17375377..17382594,8	MCF-7	breast:
35	chr17:17356865..17358826-chr17:17575976..17578412,2	MCF-7	breast:
36	chr17:17391389..17393219-chr17:17395298..17398255,3	K562	blood:
37	chr17:17342531..17346072-chr17:17347773..17351460,6	MCF-7	breast:
38	chr17:17342531..17346072-chr17:17347773..17351460,6	MCF-7	breast:
39	chr17:17367834..17370645-chr22:35627497..35629414,2	MCF-7	breast:
40	chr17:17347145..17349329-chr17:17355004..17356599,2	MCF-7	breast:
41	chr17:17335195..17342131-chr17:17347291..17351486,7	MCF-7	breast:
42	chr17:17323645..17325361-chr17:17339131..17341105,2	MCF-7	breast:
43	chr17:17345875..17348341-chr17:17739755..17742747,2	MCF-7	breast:
44	chr17:17258968..17259852-chr17:17343043..17343948,2	K562	blood:
45	chr17:17353834..17356170-chr17:17357947..17360141,2	K562	blood:
46	chr17:17347016..17350522-chr17:17380134..17385375,9	MCF-7	breast:
47	chr1:149858995..149859736-chr17:17379941..17380611,2	Hela-S3	cervix:
48	chr17:17340093..17354118-chr17:17394085..17402192,31	MCF-7	breast:
49	chr17:17336920..17339471-chr17:17342851..17344452,2	MCF-7	breast:
50	chr17:17289655..17293959-chr17:17349314..17352438,5	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RASD1-1	chr17:17348295-17349118	NONHSAT146083
2	lnc-MED9-2	chr17:17359741-17359897	NONHSAT146084
3	lnc-RASD1-1	chr17:17349342-17349366	NONHSAT146083
4	lnc-MED9-2	chr17:17360216-17360573	NONHSAT146084

No data

Variant related genes	Relation type
MED9	TF binding region
ENSG00000201741	TF binding region
TSEN15P1	TF binding region
MED9	CpG island
ENSG00000201741	CpG island
TSEN15P1	CpG island
ENSG00000230865	chromatin interactions
ENSG00000072310	chromatin interactions
ENSG00000184270	chromatin interactions
ENSG00000167088	chromatin interactions
ENSG00000108551	chromatin interactions
ENSG00000141026	chromatin interactions
ENSG00000264666	chromatin interactions
ENSG00000227158	chromatin interactions
ENSG00000133027	chromatin interactions
ENSG00000178096	chromatin interactions
ENSG00000124225	chromatin interactions

Extended variants
information (count: 2443 )
Associated
traits (count: 162 )

Variant overlapped rSNPs/rCNVs (count:2443 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12949948	chr17:17328111-17328112	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs539081692	chr17:17328114-17328115	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547577073	chr17:17328156-17328157	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543371919	chr17:17328184-17328185	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs183682040	chr17:17328188-17328189	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150906571	chr17:17328260-17328261	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs112778145	chr17:17328268-17328269	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188294271	chr17:17328339-17328340	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574331342	chr17:17328355-17328356	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528444345	chr17:17328400-17328401	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs9916127	chr17:17328411-17328412	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs149982138	chr17:17328494-17328495	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536269756	chr17:17328500-17328501	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9914744	chr17:17328519-17328520	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs116660406	chr17:17328560-17328561	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568116883	chr17:17328570-17328571	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192389285	chr17:17328577-17328578	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558771000	chr17:17328581-17328582	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114080150	chr17:17328587-17328588	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs145215575	chr17:17328592-17328593	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185079271	chr17:17328608-17328609	ZNF genes & repeats Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371847651	chr17:17328622-17328623	ZNF genes & repeats Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs117432750	chr17:17328623-17328624	ZNF genes & repeats Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141289872	chr17:17328632-17328633	ZNF genes & repeats Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532151702	chr17:17328633-17328634	ZNF genes & repeats Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545881923	chr17:17328635-17328636	ZNF genes & repeats Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs116310357	chr17:17328650-17328651	ZNF genes & repeats Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190230725	chr17:17328690-17328691	ZNF genes & repeats Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548373174	chr17:17328698-17328699	ZNF genes & repeats Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561988595	chr17:17328700-17328701	ZNF genes & repeats Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4924833	chr17:17328748-17328749	ZNF genes & repeats Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs111583279	chr17:17328752-17328753	ZNF genes & repeats Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78321725	chr17:17328757-17328758	ZNF genes & repeats Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs386507759	chr17:17328760-17328761	ZNF genes & repeats Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538609039	chr17:17328804-17328805	Active TSS Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs552263722	chr17:17328831-17328832	Active TSS Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs181843384	chr17:17328846-17328847	Active TSS Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs534910087	chr17:17328853-17328854	Active TSS Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs376739531	chr17:17328861-17328862	Active TSS Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs9889501	chr17:17328865-17328866	Active TSS Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs186462216	chr17:17328915-17328916	Active TSS Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs189442824	chr17:17328920-17328921	Active TSS Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs576778727	chr17:17329047-17329048	Active TSS Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs34407974	chr17:17329085-17329086	Active TSS Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs559511512	chr17:17329086-17329087	Active TSS Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs141025471	chr17:17329090-17329091	Active TSS Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs73978908	chr17:17329117-17329118	Active TSS Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs573208444	chr17:17329118-17329119	Active TSS Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs561855098	chr17:17329124-17329125	Active TSS Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs530759660	chr17:17329138-17329139	Active TSS Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:162)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
lymphocytic leukemia	21291569	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Urothelial carcinoma	21177765	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
Acute myeloid leukemia	17237825	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
Adenoid cystic carcinoma	18332873	CNVD
Colorectal cancer	16774939	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
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Gastric cancer	18160780	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
Breast cancer	21509527	CNVD
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Multiple myeloma	17550852	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	22543975	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	17440070	CNVD

Chromatin state (count:1646 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17324600-17328600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr17:17326000-17329800	ZNF genes & repeats	Dnd41	blood
3	chr17:17326200-17328400	Weak transcription	Left Ventricle	heart
4	chr17:17326200-17328400	Weak transcription	Right Ventricle	heart
5	chr17:17326200-17343400	Weak transcription	Right Atrium	heart
6	chr17:17327000-17328800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr17:17327200-17328800	ZNF genes & repeats	Fetal Muscle Leg	muscle
8	chr17:17327400-17328400	ZNF genes & repeats	Brain Germinal Matrix	brain
9	chr17:17327400-17328600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr17:17327400-17328800	ZNF genes & repeats	Spleen	Spleen
11	chr17:17327600-17328600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr17:17327600-17330200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr17:17328400-17328800	Enhancers	Fetal Muscle Trunk	muscle
14	chr17:17328400-17329200	Enhancers	Right Ventricle	heart
15	chr17:17328400-17329400	Enhancers	Adipose Nuclei	Adipose
16	chr17:17328400-17329400	Enhancers	Left Ventricle	heart
17	chr17:17328600-17328800	Enhancers	Osteobl	bone
18	chr17:17328600-17329200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr17:17328600-17329400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr17:17328600-17329600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr17:17328800-17329000	Weak transcription	Fetal Muscle Leg	muscle
22	chr17:17329000-17329200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr17:17329000-17329400	Enhancers	Fetal Muscle Leg	muscle
24	chr17:17329000-17329600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr17:17329000-17330400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr17:17329200-17329400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr17:17329200-17330200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr17:17329400-17335800	Weak transcription	Left Ventricle	heart
29	chr17:17329600-17338000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr17:17330200-17350000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr17:17331600-17333800	Enhancers	HepG2	liver
32	chr17:17332600-17332800	Enhancers	Hela-S3	cervix
33	chr17:17332600-17333400	Enhancers	Liver	Liver
34	chr17:17332800-17333000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr17:17332800-17333400	Weak transcription	Hela-S3	cervix
36	chr17:17333000-17333200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr17:17333200-17334000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr17:17333400-17333600	Enhancers	Hela-S3	cervix
39	chr17:17333600-17336000	Weak transcription	Hela-S3	cervix
40	chr17:17333800-17334800	Weak transcription	HepG2	liver
41	chr17:17334800-17335200	Enhancers	Fetal Brain Female	brain
42	chr17:17334800-17335400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr17:17334800-17337600	Enhancers	Dnd41	blood
44	chr17:17334800-17339200	Enhancers	Thymus	Thymus
45	chr17:17334800-17339400	Enhancers	HepG2	liver
46	chr17:17334800-17340400	Enhancers	Fetal Thymus	thymus
47	chr17:17335000-17336200	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr17:17335200-17335400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr17:17335400-17337400	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr17:17335400-17348800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links