Variant report

Variant	nsv1059979
Chromosome Location	chr17:18313818-18474634
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1235)
CpG islands
(count:1100)
Chromatin interactive
region (count:1)
LncRNA
region (count:87)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1235 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr17:18467518-18467720	HepG2	liver:	n/a	n/a
2	ATF2	chr17:18314118-18314356	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr17:18355389-18355575	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr17:18472043-18472169	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr17:18362390-18362672	H1-hESC	embryonic stem cell:	n/a	n/a
6	BATF	chr17:18379801-18380128	GM12878	blood:	n/a	n/a
7	BATF	chr17:18411051-18411300	GM12878	blood:	n/a	chr17:18411156-18411166 chr17:18411155-18411166
8	BATF	chr17:18396335-18396562	GM12878	blood:	n/a	chr17:18396479-18396490
9	BATF	chr17:18379787-18380078	GM12878	blood:	n/a	n/a
10	BATF	chr17:18467472-18467685	GM12878	blood:	n/a	n/a
11	BATF	chr17:18410950-18411370	GM12878	blood:	n/a	chr17:18411156-18411166 chr17:18411155-18411166
12	BATF	chr17:18396259-18396664	GM12878	blood:	n/a	chr17:18396479-18396490
13	BCL11A	chr17:18378052-18378384	GM12878	blood:	n/a	n/a
14	BCL11A	chr17:18379766-18380162	GM12878	blood:	n/a	n/a
15	BCL11A	chr17:18424410-18424651	GM12878	blood:	n/a	n/a
16	BCL11A	chr17:18472933-18473174	H1-hESC	embryonic stem cell:	n/a	n/a
17	BCL11A	chr17:18379825-18380074	GM12878	blood:	n/a	n/a
18	BCL11A	chr17:18472981-18473247	H1-hESC	embryonic stem cell:	n/a	n/a
19	BCL3	chr17:18314773-18315245	A549	lung:	n/a	n/a
20	BHLHE40	chr17:18466647-18467016	K562	blood:	n/a	n/a
21	BHLHE40	chr17:18396537-18396565	K562	blood:	n/a	n/a
22	BHLHE40	chr17:18424672-18424862	GM12878	blood:	n/a	n/a
23	CEBPB	chr17:18317946-18318165	IMR90	lung:	n/a	chr17:18318100-18318113 chr17:18318102-18318113 chr17:18318102-18318111
24	CEBPB	chr17:18362356-18362662	IMR90	lung:	n/a	chr17:18362363-18362376
25	CEBPB	chr17:18362210-18362602	Hela-S3	cervix:	n/a	chr17:18362363-18362376
26	CEBPB	chr17:18322037-18322380	K562	blood:	n/a	n/a
27	CEBPB	chr17:18467442-18467753	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr17:18467515-18467676	HepG2	liver:	n/a	n/a
29	CEBPB	chr17:18467516-18467710	MCF-7	breast:	n/a	n/a
30	CEBPB	chr17:18322048-18322324	K562	blood:	n/a	n/a
31	CEBPB	chr17:18322055-18322251	K562	blood:	n/a	n/a
32	CEBPB	chr17:18318052-18318134	A549	lung:	n/a	chr17:18318100-18318113 chr17:18318102-18318113 chr17:18318102-18318111
33	CEBPB	chr17:18467487-18467735	A549	lung:	n/a	n/a
34	CHD1	chr17:18315013-18315207	H1-hESC	embryonic stem cell:	n/a	n/a
35	CHD2	chr17:18314139-18314423	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr17:18467520-18467670	GM12865	blood:	n/a	n/a
37	CTCF	chr17:18400520-18400670	HPF	lung:	n/a	n/a
38	CTCF	chr17:18466781-18467077	MCF-7	breast:	n/a	n/a
39	CTCF	chr17:18466700-18466850	HMEC	breast:	n/a	n/a
40	CTCF	chr17:18346928-18346958	Spleen_OC	spleen:	n/a	n/a
41	CTCF	chr17:18400380-18400530	RPTEC	kidney:	n/a	n/a
42	CTCF	chr17:18391514-18391577	GM13976	blood:	n/a	n/a
43	CTCF	chr17:18347085-18347183	LNCaP	prostate:	n/a	n/a
44	CTCF	chr17:18472160-18472310	HEK293	kidney:	n/a	n/a
45	CTCF	chr17:18467520-18467670	GM12868	blood:	n/a	n/a
46	CTCF	chr17:18400502-18400663	GM12891	blood:	n/a	n/a
47	CTCF	chr17:18403677-18404119	NHEK	skin:	n/a	n/a
48	CTCF	chr17:18326750-18326836	A549	lung:	n/a	n/a
49	CTCF	chr17:18467480-18467630	GM12873	blood:	n/a	n/a
50	CTCF	chr17:18345500-18345650	Hela-S3	cervix:	n/a	n/a

(count:1100 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:18397849-18397899	AG04449	skin:	fetal
2	chr17:18324895-18324945	HRE	kidney:	n/a
3	chr17:18397849-18397899	AG04449	skin:	fetal
4	chr17:18324895-18324945	HRE	kidney:	n/a
5	chr17:18419896-18419946	NH-A	brain:	n/a
6	chr17:18317909-18317959	AG09319	gingival:	n/a
7	chr17:18432149-18432199	HEEpiC	esophagus:	n/a
8	chr17:18419896-18419946	BE2_C	brain:	n/a
9	chr17:18326064-18326114	K562	blood:	n/a
10	chr17:18419896-18419946	HCF	heart:	n/a
11	chr17:18380159-18380209	HPAEpiC	pulmonary alveolar:	n/a
12	chr17:18378879-18378929	AG04449	skin:	fetal
13	chr17:18421335-18421385	MCF10A-Er-Src	breast:	n/a
14	chr17:18325001-18325051	MCF-7	breast:	n/a
15	chr17:18378879-18378929	Caco-2	colon:	n/a
16	chr17:18378879-18378929	AG09319	gingival:	n/a
17	chr17:18324790-18324840	AG04450	lung:	fetal
18	chr17:18378879-18378929	AoSMC	blood vessel:	n/a
19	chr17:18324790-18324840	SK-N-SH	brain:	n/a
20	chr17:18325001-18325051	ovcar-3	ovarian:	n/a
21	chr17:18379129-18379179	HAEpiC	amniotic membrane:	n/a
22	chr17:18421335-18421385	PrEC	prostate:	n/a
23	chr17:18379129-18379179	GM19239	blood:	n/a
24	chr17:18473054-18473104	HepG2	liver:	n/a
25	chr17:18317909-18317959	GM12891	blood:	n/a
26	chr17:18380159-18380209	PANC-1	pancreas:	n/a
27	chr17:18325001-18325051	SK-N-SH_RA	brain:	n/a
28	chr17:18429951-18430001	NT2-D1	testis:	n/a
29	chr17:18428092-18428142	NHDF-neo	bronchial:	n/a
30	chr17:18429951-18430001	K562	blood:	n/a
31	chr17:18380354-18380404	HPAEpiC	pulmonary alveolar:	n/a
32	chr17:18324790-18324840	HAEpiC	amniotic membrane:	n/a
33	chr17:18325001-18325051	BJ	skin:	n/a
34	chr17:18432149-18432199	K562	blood:	n/a
35	chr17:18429951-18430001	NHDF-neo	bronchial:	n/a
36	chr17:18324790-18324840	BE2_C	brain:	n/a
37	chr17:18419896-18419946	BJ	skin:	n/a
38	chr17:18379129-18379179	HCT-116	colon:	n/a
39	chr17:18324895-18324945	SK-N-MC	brain:	n/a
40	chr17:18326064-18326114	SK-N-SH_RA	brain:	n/a
41	chr17:18378879-18378929	RPTEC	kidney:	n/a
42	chr17:18317909-18317959	Hepatocyte	liver:	n/a
43	chr17:18325001-18325051	NT2-D1	testis:	n/a
44	chr17:18429951-18430001	HEEpiC	esophagus:	n/a
45	chr17:18419896-18419946	HRE	kidney:	n/a
46	chr17:18432149-18432199	SK-N-SH	brain:	n/a
47	chr17:18324895-18324945	BE2_C	brain:	n/a
48	chr17:18379129-18379179	HRE	kidney:	n/a
49	chr17:18380159-18380209	BJ	skin:	n/a
50	chr17:18431043-18431093	AG04450	lung:	fetal

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:18222850..18223360-chr17:18466465..18467335,2	MCF-7	breast:

(count:87 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL353997.5.1-2	chr17:18317464-18317623	XLOC_012131
2	lnc-FAM106A-2	chr17:18431887-18432061	ENSG00000273018.1
3	lnc-FAM106A-2	chr17:18444241-18444277	NONHSAT146384
4	lnc-FAM106A-2	chr17:18422796-18422988	ENSG00000273018.1
5	lnc-AL353997.5.1-1	chr17:18327635-18327951	ENSG00000205266.5
6	lnc-FAM106A-2	chr17:18431887-18431914	ENSG00000273018.1
7	lnc-FAM106A-2	chr17:18422796-18422988	ENSG00000273018.1
8	lnc-FAM106A-2	chr17:18427120-18427191	ENSG00000273018.1
9	lnc-FAM106A-2	chr17:18427091-18427191	ENSG00000273018.1
10	lnc-AL353997.5.1-5	chr17:18380114-18380207	NONHSAT146376
11	lnc-FAM106A-2	chr17:18420725-18420787	ENSG00000273018.1
12	lnc-AL353997.5.1-2	chr17:18315789-18316112	XLOC_012131
13	lnc-FAM106A-2	chr17:18446987-18447029	ENSG00000273018.1
14	lnc-FAM106A-2	chr17:18427091-18427191	ENSG00000273018.1
15	lnc-FAM106A-2	chr17:18435820-18435911	ENSG00000273018.1
16	lnc-FAM106A-2	chr17:18454820-18454999	ENSG00000273018.1
17	lnc-FAM106A-2	chr17:18420696-18420787	ENSG00000273018.1
18	lnc-FAM106A-2	chr17:18444241-18444550	ENSG00000273018.1
19	lnc-AL353997.5.1-6	chr17:18395939-18396053	NONHSAT146378
20	lnc-FAM106A-2	chr17:18435820-18435911	ENSG00000273018.1
21	lnc-FAM106A-2	chr17:18430884-18431074	ENSG00000273018.1
22	lnc-FAM106A-2	chr17:18431900-18432061	ENSG00000273018.1
23	lnc-FAM106A-2	chr17:18422796-18422988	ENSG00000273018.1
24	lnc-FAM106A-2	chr17:18436661-18436705	ENSG00000273018.1
25	lnc-AL353997.5.1-2	chr17:18315660-18315823	XLOC_012131
26	lnc-FAM106A-2	chr17:18422796-18422988	ENSG00000273018.1
27	lnc-FAM106A-2	chr17:18427091-18427711	ENSG00000273018.1
28	lnc-FAM106A-2	chr17:18446987-18447029	ENSG00000273018.1
29	lnc-FAM106A-2	chr17:18431887-18432061	ENSG00000273018.1
30	lnc-FAM106A-2	chr17:18422796-18422988	ENSG00000273018.1
31	lnc-FAM106A-2	chr17:18422796-18422988	ENSG00000273018.1
32	lnc-AL353997.5.1-2	chr17:18317468-18317702	XLOC_012131
33	lnc-AL353997.5.1-5	chr17:18387189-18387649	NONHSAT146376
34	lnc-FAM106A-2	chr17:18436661-18436852	ENSG00000273018.1
35	lnc-FAM106A-2	chr17:18436661-18437376	ENSG00000273018.1
36	lnc-FAM106A-2	chr17:18431887-18432061	ENSG00000273018.1
37	lnc-FAM106A-2	chr17:18445402-18445501	ENSG00000273018.1
38	lnc-FAM106A-2	chr17:18454820-18455008	ENSG00000273018.1
39	lnc-FAM106A-2	chr17:18435820-18435911	ENSG00000273018.1
40	lnc-AL353997.5.1-4	chr17:18343220-18343625	NONHSAT146373
41	lnc-FAM106A-2	chr17:18435820-18435911	ENSG00000273018.1
42	lnc-FAM106A-2	chr17:18445402-18445501	ENSG00000273018.1
43	lnc-FAM106A-2	chr17:18446987-18447029	ENSG00000273018.1
44	lnc-FAM106A-2	chr17:18426379-18426609	NONHSAT146382
45	lnc-FAM106A-1	chr17:18427880-18430160	NR_026809
46	lnc-FAM106A-2	chr17:18431887-18432126	NONHSAT146381
47	lnc-FAM106A-2	chr17:18420604-18420787	ENSG00000273018.1
48	lnc-FAM106A-2	chr17:18435820-18436192	ENSG00000273018.1
49	lnc-FAM106A-2	chr17:18445402-18445501	ENSG00000273018.1
50	lnc-FAM106A-2	chr17:18430884-18431074	ENSG00000273018.1

No data

Variant related genes	Relation type
ENSG00000205266	TF binding region
USP32P2	TF binding region
KRT16P4	TF binding region
LGALS9C	TF binding region
ENSG00000227919	TF binding region
ENSG00000267492	TF binding region
KRT16P1	TF binding region
TNPO1P2	TF binding region
ENSG00000240279	TF binding region
ENSG00000227077	TF binding region
YWHAEP2	TF binding region
FAM106A	TF binding region
KRT17P2	TF binding region
SRP68P2	TF binding region
ENSG00000220161	TF binding region
NOS2P2	TF binding region
CCDC144B	TF binding region
ENSG00000273018	TF binding region
ENSG00000205266	CpG island
USP32P2	CpG island
KRT16P4	CpG island
LGALS9C	CpG island
ENSG00000227919	CpG island
ENSG00000267492	CpG island
KRT16P1	CpG island
TNPO1P2	CpG island
ENSG00000240279	CpG island
ENSG00000227077	CpG island
YWHAEP2	CpG island
FAM106A	CpG island
KRT17P2	CpG island
SRP68P2	CpG island
ENSG00000220161	CpG island
NOS2P2	CpG island
CCDC144B	CpG island
ENSG00000273018	CpG island
KIAA0528	miRNA target sites
KIAA0664	miRNA target sites

Extended variants
information (count: 3506 )
Associated
traits (count: 169 )

Variant overlapped rSNPs/rCNVs (count:3506 , 50 per page) page: 1 2 3 4 5 6 7 ... 71

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564129892	chr17:18313825-18313826	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs532890018	chr17:18313852-18313853	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs145835293	chr17:18313879-18313880	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs559675346	chr17:18313897-18313898	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs528711849	chr17:18313940-18313941	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs548468115	chr17:18313977-18313978	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs199870035	chr17:18313984-18313985	Active TSS Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs568454718	chr17:18314004-18314005	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs374530583	chr17:18314011-18314012	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs537006591	chr17:18314032-18314033	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs550563011	chr17:18314047-18314048	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs570893301	chr17:18314073-18314074	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs539562902	chr17:18314083-18314084	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs553468338	chr17:18314094-18314095	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs572933978	chr17:18314109-18314110	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs535688139	chr17:18314139-18314140	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs560289	chr17:18314142-18314143	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	mRNA abundance
18	rs555693339	chr17:18314143-18314144	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs575620447	chr17:18314167-18314168	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs572584317	chr17:18314192-18314193	Active TSS Enhancers Weak transcription Flanking Active TSS	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs78362755	chr17:18314238-18314239	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs544182242	chr17:18314250-18314251	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs564092874	chr17:18314265-18314266	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs115535233	chr17:18314273-18314274	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs539927762	chr17:18314275-18314276	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs560240781	chr17:18314284-18314285	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs77946669	chr17:18314287-18314288	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs533624115	chr17:18314291-18314292	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs528667706	chr17:18314294-18314295	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs636275	chr17:18314339-18314340	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs143755618	chr17:18314372-18314373	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs548382617	chr17:18314396-18314397	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs528837469	chr17:18314412-18314413	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs536552	chr17:18314433-18314434	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs531130171	chr17:18314501-18314502	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs550524177	chr17:18314520-18314521	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs199570565	chr17:18314534-18314535	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs570739301	chr17:18314547-18314548	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs201354272	chr17:18314581-18314582	Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs539851579	chr17:18314606-18314607	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs142008001	chr17:18314629-18314630	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs546777552	chr17:18314769-18314770	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs566997044	chr17:18314776-18314777	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs62074236	chr17:18314830-18314831	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs535604846	chr17:18314834-18314835	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs371635546	chr17:18314880-18314881	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs569145577	chr17:18314910-18314911	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs62074237	chr17:18314913-18314914	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs369561962	chr17:18314930-18314931	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs558059620	chr17:18314947-18314948	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:169)

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
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
Non-syndromic sensorineural hearing loss	18496225	CNVD
Autism	22543975	CNVD
Ovarian cancer	22355333	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Sezary syndrome	18413736	CNVD
Medulloblastoma	16783165	CNVD
Recurrent pregnancy loss	19789632	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Tetralogy of Fallot	22912587	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD

Chromatin state (count:784 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18306800-18314200	Weak transcription	GM12878-XiMat	blood
2	chr17:18312200-18314000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
3	chr17:18312200-18314400	Enhancers	Primary T cells from cord blood	blood
4	chr17:18312400-18314000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr17:18312400-18314000	Enhancers	NHEK	skin
6	chr17:18312400-18314200	Weak transcription	Primary hematopoietic stem cells	blood
7	chr17:18312400-18314200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr17:18312400-18314200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr17:18312600-18314200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr17:18312600-18314200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr17:18312600-18314200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr17:18312600-18315400	Active TSS	Brain Germinal Matrix	brain
13	chr17:18312800-18314800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr17:18313000-18314000	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr17:18313000-18314000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr17:18313000-18314000	Weak transcription	Fetal Heart	heart
17	chr17:18313000-18314200	Weak transcription	Primary B cells from peripheral blood	blood
18	chr17:18313000-18314200	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr17:18313000-18314200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr17:18313000-18314200	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr17:18313000-18315400	Active TSS	Fetal Brain Female	brain
22	chr17:18313000-18315400	Active TSS	Fetal Stomach	stomach
23	chr17:18313200-18314000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr17:18313200-18314000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr17:18313200-18314000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr17:18313200-18314200	Weak transcription	Brain Substantia Nigra	brain
27	chr17:18313200-18315400	Active TSS	Fetal Thymus	thymus
28	chr17:18313400-18314000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr17:18313400-18315400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr17:18313400-18315400	Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr17:18313400-18315400	Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr17:18313400-18315400	Active TSS	iPS-20b Cell Line	embryonic stem cell
33	chr17:18313400-18315400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr17:18313400-18315400	Active TSS	Thymus	Thymus
35	chr17:18313600-18314400	Flanking Active TSS	Dnd41	blood
36	chr17:18313600-18315400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr17:18313600-18315400	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr17:18313600-18315400	Active TSS	A549	lung
39	chr17:18313600-18315400	Active TSS	NH-A	brain
40	chr17:18313800-18314000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr17:18313800-18314200	Enhancers	Primary monocytes fromperipheralblood	blood
42	chr17:18313800-18314200	Enhancers	Primary T cells fromperipheralblood	blood
43	chr17:18313800-18314200	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr17:18313800-18315200	Active TSS	Colon Smooth Muscle	Colon
45	chr17:18313800-18315200	Active TSS	Fetal Brain Male	brain
46	chr17:18313800-18315400	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr17:18313800-18315400	Active TSS	H9 Cell Line	embryonic stem cell
48	chr17:18313800-18315400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr17:18313800-18315400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr17:18313800-18315400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

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