Variant report

Variant	nsv427993
Chromosome Location	chr17:20171398-20482061
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1741)
CpG islands
(count:2751)
Chromatin interactive
region (count:10)
LncRNA
region (count:51)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1741 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr17:20193406-20193703	HepG2	liver:	n/a	n/a
2	ATF1	chr17:20224178-20224437	K562	blood:	n/a	n/a
3	ATF3	chr17:20224059-20224450	H1-hESC	embryonic stem cell:	n/a	chr17:20224408-20224418 chr17:20224410-20224430 chr17:20224408-20224421 chr17:20224409-20224420 chr17:20224410-20224421 chr17:20224409-20224420 chr17:20224408-20224418 chr17:20224409-20224422 chr17:20224408-20224421 chr17:20224411-20224421 chr17:20224410-20224418 chr17:20224411-20224418 chr17:20224411-20224421 chr17:20224411-20224419 chr17:20224407-20224422
4	BACH1	chr17:20184460-20184504	K562	blood:	n/a	n/a
5	BACH1	chr17:20388438-20388633	H1-hESC	embryonic stem cell:	n/a	n/a
6	BATF	chr17:20255920-20256169	GM12878	blood:	n/a	n/a
7	BATF	chr17:20248455-20248916	GM12878	blood:	n/a	n/a
8	BATF	chr17:20443556-20444223	GM12878	blood:	n/a	n/a
9	BATF	chr17:20339552-20339955	GM12878	blood:	n/a	chr17:20339773-20339784 chr17:20339774-20339784
10	BATF	chr17:20284594-20284865	GM12878	blood:	n/a	n/a
11	BATF	chr17:20443708-20444186	GM12878	blood:	n/a	n/a
12	BATF	chr17:20268534-20268812	GM12878	blood:	n/a	n/a
13	BATF	chr17:20370764-20371076	GM12878	blood:	n/a	n/a
14	BATF	chr17:20449270-20449503	GM12878	blood:	n/a	n/a
15	BATF	chr17:20224099-20224508	GM12878	blood:	n/a	n/a
16	BATF	chr17:20268484-20268863	GM12878	blood:	n/a	n/a
17	BATF	chr17:20370787-20371117	GM12878	blood:	n/a	n/a
18	BATF	chr17:20354311-20354673	GM12878	blood:	n/a	chr17:20354476-20354487
19	BATF	chr17:20339605-20339854	GM12878	blood:	n/a	chr17:20339773-20339784 chr17:20339774-20339784
20	BATF	chr17:20354345-20354597	GM12878	blood:	n/a	chr17:20354476-20354487
21	BATF	chr17:20243234-20243495	GM12878	blood:	n/a	n/a
22	BCL11A	chr17:20268605-20268835	GM12878	blood:	n/a	n/a
23	BCL11A	chr17:20224116-20224588	GM12878	blood:	n/a	n/a
24	BCL11A	chr17:20370709-20371057	GM12878	blood:	n/a	n/a
25	BCL11A	chr17:20371063-20371231	GM12878	blood:	n/a	n/a
26	BCL11A	chr17:20372530-20372862	GM12878	blood:	n/a	n/a
27	BCL11A	chr17:20443676-20444145	GM12878	blood:	n/a	n/a
28	BCL11A	chr17:20443777-20444111	GM12878	blood:	n/a	n/a
29	BCL11A	chr17:20243128-20243463	GM12878	blood:	n/a	n/a
30	BCL11A	chr17:20370806-20371041	GM12878	blood:	n/a	n/a
31	BCL11A	chr17:20224157-20224416	GM12878	blood:	n/a	n/a
32	BCL11A	chr17:20326172-20326448	GM12878	blood:	n/a	n/a
33	BCL3	chr17:20438566-20438789	GM12878	blood:	n/a	n/a
34	BHLHE40	chr17:20285598-20285614	K562	blood:	n/a	n/a
35	BHLHE40	chr17:20354420-20354612	K562	blood:	n/a	n/a
36	BRCA1	chr17:20224169-20224376	H1-hESC	embryonic stem cell:	n/a	n/a
37	BRCA1	chr17:20224258-20224346	HepG2	liver:	n/a	n/a
38	CBX3	chr17:20210305-20210555	K562	blood:	n/a	n/a
39	CBX3	chr17:20224068-20224528	K562	blood:	n/a	n/a
40	CBX3	chr17:20224147-20224397	K562	blood:	n/a	n/a
41	CEBPB	chr17:20211599-20211963	IMR90	lung:	n/a	chr17:20211782-20211793
42	CEBPB	chr17:20173457-20173574	Hela-S3	cervix:	n/a	chr17:20173508-20173519
43	CEBPB	chr17:20211595-20211961	Hela-S3	cervix:	n/a	chr17:20211782-20211793
44	CEBPB	chr17:20177462-20177626	A549	lung:	n/a	n/a
45	CEBPB	chr17:20200541-20200898	A549	lung:	n/a	chr17:20200701-20200712
46	CEBPB	chr17:20224268-20224483	A549	lung:	n/a	n/a
47	CEBPB	chr17:20180974-20180981	K562	blood:	n/a	n/a
48	CEBPB	chr17:20224250-20224356	H1-hESC	embryonic stem cell:	n/a	n/a
49	CEBPB	chr17:20428677-20428912	K562	blood:	n/a	n/a
50	CEBPB	chr17:20175621-20175879	HepG2	liver:	n/a	n/a

(count:2751 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:20454132-20454182	AG04450	lung:	fetal
2	chr17:20480574-20480624	NHBE	bronchial:	n/a
3	chr17:20180146-20180196	HRE	kidney:	n/a
4	chr17:20456901-20456951	PrEC	prostate:	n/a
5	chr17:20280166-20280216	LNCaP	prostate:	n/a
6	chr17:20217823-20217873	K562	blood:	n/a
7	chr17:20454132-20454182	AG04450	lung:	fetal
8	chr17:20480574-20480624	NHBE	bronchial:	n/a
9	chr17:20180146-20180196	HRE	kidney:	n/a
10	chr17:20456901-20456951	PrEC	prostate:	n/a
11	chr17:20280166-20280216	LNCaP	prostate:	n/a
12	chr17:20217823-20217873	K562	blood:	n/a
13	chr17:20203992-20204042	ovcar-3	ovarian:	n/a
14	chr17:20465437-20465487	AG04450	lung:	fetal
15	chr17:20465437-20465487	PrEC	prostate:	n/a
16	chr17:20203992-20204042	AG09309	skin:	n/a
17	chr17:20448558-20448608	SAEC	small airway:	n/a
18	chr17:20228619-20228669	AG04449	skin:	fetal
19	chr17:20456385-20456435	HCPEpiC	choroid plexus:	n/a
20	chr17:20346491-20346541	NHDF-neo	bronchial:	n/a
21	chr17:20480574-20480624	K562	blood:	n/a
22	chr17:20456901-20456951	HL-60	blood:	n/a
23	chr17:20405382-20405432	MCF-7	breast:	n/a
24	chr17:20224800-20224850	BJ	skin:	n/a
25	chr17:20217823-20217873	NB4	blood:	n/a
26	chr17:20409125-20409175	GM12891	blood:	n/a
27	chr17:20456901-20456951	NH-A	brain:	n/a
28	chr17:20223299-20223349	AG04450	lung:	fetal
29	chr17:20187457-20187507	GM19239	blood:	n/a
30	chr17:20187457-20187507	NH-A	brain:	n/a
31	chr17:20224800-20224850	MCF10A-Er-Src	breast:	n/a
32	chr17:20448558-20448608	PFSK-1	brain:	n/a
33	chr17:20467831-20467881	NT2-D1	testis:	n/a
34	chr17:20225674-20225724	RPTEC	kidney:	n/a
35	chr17:20370597-20370647	AG04449	skin:	fetal
36	chr17:20224345-20224395	HEK293	kidney:	embryo
37	chr17:20409125-20409175	RPTEC	kidney:	n/a
38	chr17:20180146-20180196	HepG2	liver:	n/a
39	chr17:20460588-20460638	T-47D	breast:	n/a
40	chr17:20450466-20450516	AG09319	gingival:	n/a
41	chr17:20339589-20339639	HCM	heart:	n/a
42	chr17:20448558-20448608	Caco-2	colon:	n/a
43	chr17:20433187-20433237	HNPCEpiC	eye:	n/a
44	chr17:20458986-20459036	RPTEC	kidney:	n/a
45	chr17:20405382-20405432	HEEpiC	esophagus:	n/a
46	chr17:20224414-20224464	PFSK-1	brain:	n/a
47	chr17:20465437-20465487	Hela-S3	cervix:	n/a
48	chr17:20409125-20409175	SAEC	small airway:	n/a
49	chr17:20408647-20408697	ECC-1	luminal epithelium:	n/a
50	chr17:20480574-20480624	RPTEC	kidney:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:20170600..20173338-chr17:20176185..20177778,2	K562	blood:
2	chr17:20183025..20185353-chr17:20193031..20195779,2	MCF-7	breast:
3	chr17:18289123..18291183-chr17:20462480..20465308,2	MCF-7	breast:
4	chr17:20164807..20165435-chr17:20223847..20224473,2	MCF-7	breast:
5	chr17:20193195..20195348-chr17:20196222..20198766,2	MCF-7	breast:
6	chr17:20187206..20188805-chr17:20191022..20192770,2	K562	blood:
7	chr17:20187206..20188805-chr17:20191022..20192770,2	K562	blood:
8	chr17:20170600..20173338-chr17:20176185..20177778,2	K562	blood:
9	chr17:20170501..20172130-chr17:20175746..20177689,2	MCF-7	breast:
10	chr17:20170501..20172130-chr17:20175746..20177689,2	MCF-7	breast:

(count:51 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LGALS9B-13	chr17:20462661-20462723	NONHSAT146793
2	lnc-CCDC144C-1	chr17:20268399-20269343	NR_023380
3	lnc-CCDC144C-1	chr17:20241470-20241543	NR_023380
4	lnc-LGALS9B-10	chr17:20435561-20436194	NONHSAT146584
5	lnc-LGALS9B-2	chr17:20478895-20479010	XLOC_012419
6	lnc-LGALS9B-7	chr17:20410726-20412244	ENSG00000266925.1
7	lnc-LGALS9B-13	chr17:20458740-20458896	NONHSAT146793
8	lnc-CCDC144C-1	chr17:20295677-20295897	NR_023380
9	lnc-CCDC144C-1	chr17:20305369-20305504	NR_023380
10	lnc-FAM106B-1	chr17:20320741-20322363	NONHSAT146570
11	lnc-LGALS9B-2	chr17:20478827-20479172	XLOC_012419
12	lnc-CCDC144C-1	chr17:20294788-20295081	NR_023380
13	lnc-CCDC144NL-9	chr17:20356330-20356786	NONHSAT146574
14	lnc-LGALS9B-2	chr17:20479798-20480107	XLOC_012419
15	lnc-LGALS9B-2	chr17:20478895-20479172	XLOC_012419
16	lnc-CCDC144C-1	chr17:20227496-20227566	NR_023380
17	lnc-CCDC144C-1	chr17:20266235-20266363	NR_023380
18	lnc-CCDC144C-1	chr17:20265497-20265680	NR_023380
19	lnc-LGALS9B-2	chr17:20481940-20482149	XLOC_012419
20	lnc-LGALS9B-2	chr17:20479866-20480107	XLOC_012419
21	lnc-SPECC1-2	chr17:20226371-20226650	ENSG00000266839.1
22	lnc-CCDC144NL-9	chr17:20355135-20355196	NONHSAT146574
23	lnc-CCDC144NL-9	chr17:20355664-20355708	NONHSAT146574
24	lnc-LGALS9B-2	chr17:20481940-20482234	XLOC_012419
25	lnc-CCDC144C-1	chr17:20254570-20254711	NR_023380
26	lnc-LGALS9B-2	chr17:20481940-20482234	XLOC_012419
27	lnc-LGALS9B-12	chr17:20446789-20446842	NONHSAT146601
28	lnc-LGALS9B-2	chr17:20479798-20480107	XLOC_012419
29	lnc-CCDC144NL-9	chr17:20355108-20355484	NONHSAT146573
30	lnc-FAM106B-2	chr17:20336519-20336570	ENSG00000265556.1
31	lnc-CCDC144C-1	chr17:20224487-20224973	NR_023380
32	lnc-CCDC144C-1	chr17:20242793-20243632	NR_023380
33	lnc-CCDC144C-1	chr17:20261192-20261409	NR_023380
34	lnc-SPECC1-3	chr17:20244056-20244356	NONHSAT146561
35	lnc-CCDC144C-1	chr17:20239145-20239393	NR_023380
36	lnc-CCDC144C-1	chr17:20303834-20303876	NR_023380
37	lnc-FAM106B-1	chr17:20320763-20321272	NONHSAT146571
38	lnc-CCDC144C-1	chr17:20245671-20245807	NR_023380
39	lnc-LGALS9B-2	chr17:20479798-20480255	XLOC_012419
40	lnc-CCDC144C-1	chr17:20254251-20254284	NR_023380
41	lnc-LGALS9B-2	chr17:20479980-20480210	ENSG00000264422.1
42	lnc-LGALS9B-12	chr17:20446287-20446510	NONHSAT146601
43	lnc-LGALS9B-13	chr17:20459470-20459532	NONHSAT146793
44	lnc-LGALS9B-12	chr17:20447359-20447436	NONHSAT146601
45	lnc-CCDC144NL-9	chr17:20354914-20355028	NONHSAT146573
46	lnc-FAM106B-2	chr17:20337350-20337598	ENSG00000265556.1
47	lnc-LGALS9B-4	chr17:20373955-20374185	ucscGeneNc_uc002gxd_1
48	lnc-LGALS9B-4	chr17:20375554-20376706	ucscGeneNc_uc002gxd_1
49	lnc-LGALS9B-1	chr17:20433355-20434194	ENSG00000260907.1
50	lnc-LGALS9B-2	chr17:20481940-20482061	ENSG00000264422.1

No data

Variant related genes	Relation type
UPF3AP2	TF binding region
SPECC1	TF binding region
ENSG00000260907	TF binding region
YWHAEP3	TF binding region
ENSG00000266042	TF binding region
FAM106B	TF binding region
NOS2P3	TF binding region
KRT16P5	TF binding region
RN7SL17P	TF binding region
ENSG00000266925	TF binding region
ENSG00000263946	TF binding region
ENSG00000230339	TF binding region
ENSG00000265916	TF binding region
ENSG00000205215	TF binding region
COTL1P2	TF binding region
CCDC144CP	TF binding region
USP32P3	TF binding region
ENSG00000231645	TF binding region
ENSG00000264422	TF binding region
TBC1D3P3	TF binding region
SRP68P3	TF binding region
KRT16P3	TF binding region
ENSG00000229586	TF binding region
ENSG00000266839	TF binding region
ENSG00000265556	TF binding region
LGALS9B	TF binding region
ENSG00000264981	TF binding region
ENSG00000267075	TF binding region
CDRT15L2	TF binding region
RNU6-1057P	TF binding region
UPF3AP2	CpG island
SPECC1	CpG island
ENSG00000260907	CpG island
YWHAEP3	CpG island
ENSG00000266042	CpG island
FAM106B	CpG island
NOS2P3	CpG island
KRT16P5	CpG island
RN7SL17P	CpG island
ENSG00000266925	CpG island
ENSG00000263946	CpG island
ENSG00000230339	CpG island
ENSG00000265916	CpG island
ENSG00000205215	CpG island
COTL1P2	CpG island
CCDC144CP	CpG island
USP32P3	CpG island
ENSG00000231645	CpG island
ENSG00000264422	CpG island
TBC1D3P3	CpG island
SRP68P3	CpG island
KRT16P3	CpG island
ENSG00000229586	CpG island
ENSG00000266839	CpG island
ENSG00000265556	CpG island
LGALS9B	CpG island
ENSG00000264981	CpG island
ENSG00000267075	CpG island
CDRT15L2	CpG island
RNU6-1057P	CpG island
ENSG00000214860	chromatin interactions
ENSG00000252971	chromatin interactions
GTF3C4	miRNA target sites
RNF125	miRNA target sites
VPS4B	miRNA target sites

Extended variants
information (count: 7239 )
Associated
traits (count: 154 )

Variant overlapped rSNPs/rCNVs (count:7239 , 50 per page) page: 1 2 3 4 5 6 7 ... 145

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572442268	chr17:20171426-20171427	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541345284	chr17:20171453-20171454	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554551551	chr17:20171472-20171473	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574612455	chr17:20171495-20171496	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs543247427	chr17:20171498-20171499	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568345353	chr17:20171521-20171522	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2158472	chr17:20171524-20171525	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs80140414	chr17:20171526-20171527	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192817315	chr17:20171546-20171547	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184530858	chr17:20171591-20171592	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112886870	chr17:20171593-20171594	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs7210809	chr17:20171610-20171611	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs200689400	chr17:20171611-20171612	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77891018	chr17:20171620-20171621	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138820506	chr17:20171634-20171635	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548106988	chr17:20171640-20171641	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs554107326	chr17:20171641-20171642	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567855156	chr17:20171706-20171707	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530365992	chr17:20171718-20171719	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs8071309	chr17:20171719-20171720	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs117888607	chr17:20171735-20171736	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs62066875	chr17:20171774-20171775	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144590895	chr17:20171812-20171813	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189414994	chr17:20171841-20171842	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs199621504	chr17:20171851-20171852	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539425025	chr17:20171870-20171871	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs3850779	chr17:20171872-20171873	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs147984926	chr17:20171891-20171892	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs141612737	chr17:20171900-20171901	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575414183	chr17:20171903-20171904	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs576030825	chr17:20171917-20171918	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574645514	chr17:20171924-20171925	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs537309621	chr17:20171925-20171926	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556751819	chr17:20171945-20171946	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545665916	chr17:20171984-20171985	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528965481	chr17:20171988-20171989	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs193135133	chr17:20172011-20172012	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs536052233	chr17:20172083-20172084	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572839229	chr17:20172106-20172107	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541458423	chr17:20172125-20172126	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs561679371	chr17:20172174-20172175	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs530338572	chr17:20172215-20172216	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs145970219	chr17:20172228-20172229	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563898883	chr17:20172293-20172294	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs61286151	chr17:20172298-20172299	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532737188	chr17:20172303-20172304	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs377337046	chr17:20172363-20172364	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs552744291	chr17:20172399-20172400	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566172950	chr17:20172414-20172415	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs16959946	chr17:20172447-20172448	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:154)

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
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
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	22522925	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1896 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20136400-20209800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr17:20151600-20190000	Weak transcription	Colonic Mucosa	Colon
3	chr17:20152800-20176200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr17:20161800-20180200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr17:20162000-20172600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr17:20162000-20172800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr17:20162000-20174600	Weak transcription	Thymus	Thymus
8	chr17:20162000-20176600	Weak transcription	Fetal Brain Male	brain
9	chr17:20162000-20187600	Weak transcription	Pancreas	Pancrea
10	chr17:20164000-20172800	Weak transcription	Left Ventricle	heart
11	chr17:20164000-20200200	Weak transcription	Fetal Intestine Large	intestine
12	chr17:20164000-20205600	Weak transcription	Esophagus	oesophagus
13	chr17:20164200-20172600	Weak transcription	Adipose Nuclei	Adipose
14	chr17:20164200-20176200	Weak transcription	Fetal Brain Female	brain
15	chr17:20164200-20200200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr17:20164400-20202200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr17:20164600-20203800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr17:20164600-20204000	Weak transcription	Gastric	stomach
19	chr17:20165000-20173600	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr17:20165000-20182000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr17:20165600-20177200	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr17:20165800-20180400	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr17:20166000-20185000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr17:20166200-20174400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr17:20166600-20174000	Enhancers	Primary T cells from cord blood	blood
26	chr17:20166600-20187400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr17:20167200-20183200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr17:20167400-20172000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr17:20167400-20174600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr17:20167400-20187600	Weak transcription	A549	lung
31	chr17:20167400-20200200	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr17:20167600-20173800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr17:20168000-20177000	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr17:20168200-20182000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr17:20168200-20182400	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr17:20168400-20176400	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr17:20169000-20174000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr17:20170000-20171400	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr17:20170000-20171400	Enhancers	HSMM	muscle
40	chr17:20170000-20171600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr17:20170000-20171600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr17:20170000-20171600	Enhancers	Fetal Muscle Leg	muscle
43	chr17:20170000-20171600	Enhancers	HSMMtube	muscle
44	chr17:20170000-20171800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr17:20170000-20173000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr17:20170000-20175000	Enhancers	Primary T cells fromperipheralblood	blood
47	chr17:20170000-20182000	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr17:20170200-20171400	Enhancers	Primary hematopoietic stem cells	blood
49	chr17:20170200-20171400	Enhancers	HUVEC	blood vessel
50	chr17:20170200-20172000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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