Variant report

Variant	nsv962275
Chromosome Location	chr17:18272529-18471923
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1594)
CpG islands
(count:2197)
Chromatin interactive
region (count:19)
LncRNA
region (count:90)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1594 , 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	chr17:18283094-18283294	K562	blood:	n/a	n/a
2	ARID3A	chr17:18467518-18467720	HepG2	liver:	n/a	n/a
3	ATF2	chr17:18274795-18275169	GM12878	blood:	n/a	n/a
4	ATF2	chr17:18314118-18314356	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF3	chr17:18276575-18276810	K562	blood:	n/a	n/a
6	BACH1	chr17:18362390-18362672	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr17:18355389-18355575	H1-hESC	embryonic stem cell:	n/a	n/a
8	BATF	chr17:18306799-18307466	GM12878	blood:	n/a	n/a
9	BATF	chr17:18275512-18275864	GM12878	blood:	n/a	chr17:18275675-18275686
10	BATF	chr17:18411051-18411300	GM12878	blood:	n/a	chr17:18411156-18411166 chr17:18411155-18411166
11	BATF	chr17:18396259-18396664	GM12878	blood:	n/a	chr17:18396479-18396490
12	BATF	chr17:18306836-18307314	GM12878	blood:	n/a	n/a
13	BATF	chr17:18379787-18380078	GM12878	blood:	n/a	n/a
14	BATF	chr17:18301531-18301764	GM12878	blood:	n/a	n/a
15	BATF	chr17:18274867-18275146	GM12878	blood:	n/a	chr17:18275033-18275043 chr17:18275032-18275043
16	BATF	chr17:18467472-18467685	GM12878	blood:	n/a	n/a
17	BATF	chr17:18379801-18380128	GM12878	blood:	n/a	n/a
18	BATF	chr17:18275456-18275836	GM12878	blood:	n/a	chr17:18275675-18275686
19	BATF	chr17:18410950-18411370	GM12878	blood:	n/a	chr17:18411156-18411166 chr17:18411155-18411166
20	BATF	chr17:18396335-18396562	GM12878	blood:	n/a	chr17:18396479-18396490
21	BATF	chr17:18274788-18275214	GM12878	blood:	n/a	chr17:18275033-18275043 chr17:18275032-18275043
22	BATF	chr17:18276575-18276822	GM12878	blood:	n/a	chr17:18276707-18276718
23	BCL11A	chr17:18379825-18380074	GM12878	blood:	n/a	n/a
24	BCL11A	chr17:18274726-18275205	GM12878	blood:	n/a	n/a
25	BCL11A	chr17:18306873-18307246	GM12878	blood:	n/a	n/a
26	BCL11A	chr17:18275533-18275826	GM12878	blood:	n/a	n/a
27	BCL11A	chr17:18378052-18378384	GM12878	blood:	n/a	n/a
28	BCL11A	chr17:18379766-18380162	GM12878	blood:	n/a	n/a
29	BCL11A	chr17:18306911-18307191	GM12878	blood:	n/a	n/a
30	BCL11A	chr17:18275505-18275827	GM12878	blood:	n/a	n/a
31	BCL11A	chr17:18424410-18424651	GM12878	blood:	n/a	n/a
32	BCL11A	chr17:18274751-18275183	GM12878	blood:	n/a	n/a
33	BCL3	chr17:18314773-18315245	A549	lung:	n/a	n/a
34	BHLHE40	chr17:18396537-18396565	K562	blood:	n/a	n/a
35	BHLHE40	chr17:18280957-18281131	GM12878	blood:	n/a	n/a
36	BHLHE40	chr17:18284936-18285074	K562	blood:	n/a	n/a
37	BHLHE40	chr17:18466647-18467016	K562	blood:	n/a	n/a
38	BHLHE40	chr17:18274727-18275148	GM12878	blood:	n/a	n/a
39	BHLHE40	chr17:18277362-18277445	K562	blood:	n/a	n/a
40	BHLHE40	chr17:18282904-18283115	K562	blood:	n/a	n/a
41	BHLHE40	chr17:18424672-18424862	GM12878	blood:	n/a	n/a
42	BRCA1	chr17:18280767-18281046	Hela-S3	cervix:	n/a	n/a
43	BRCA1	chr17:18281434-18281557	Hela-S3	cervix:	n/a	n/a
44	CEBPB	chr17:18317946-18318165	IMR90	lung:	n/a	chr17:18318100-18318113 chr17:18318102-18318113 chr17:18318102-18318111
45	CEBPB	chr17:18318052-18318134	A549	lung:	n/a	chr17:18318100-18318113 chr17:18318102-18318113 chr17:18318102-18318111
46	CEBPB	chr17:18280775-18281332	HepG2	liver:	n/a	chr17:18280955-18280966
47	CEBPB	chr17:18280654-18281216	MCF-7	breast:	n/a	chr17:18280955-18280966
48	CEBPB	chr17:18272355-18272702	Hela-S3	cervix:	n/a	n/a
49	CEBPB	chr17:18467442-18467753	Hela-S3	cervix:	n/a	n/a
50	CEBPB	chr17:18467487-18467735	A549	lung:	n/a	n/a

(count:2197 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:18280183-18280233	AG10803	skin:	n/a
2	chr17:18280183-18280233	AG10803	skin:	n/a
3	chr17:18280849-18280899	HEK293	kidney:	embryo
4	chr17:18287814-18287864	HMEC	breast:	n/a
5	chr17:18305305-18305355	GM12891	blood:	n/a
6	chr17:18280011-18280061	NHBE	bronchial:	n/a
7	chr17:18431043-18431093	HNPCEpiC	eye:	n/a
8	chr17:18280011-18280061	SK-N-MC	brain:	n/a
9	chr17:18324790-18324840	AG04450	lung:	fetal
10	chr17:18324895-18324945	BJ	skin:	n/a
11	chr17:18379129-18379179	HEEpiC	esophagus:	n/a
12	chr17:18378879-18378929	Jurkat	blood:	n/a
13	chr17:18379129-18379179	SK-N-SH_RA	brain:	n/a
14	chr17:18283678-18283728	MCF-7	breast:	n/a
15	chr17:18380354-18380404	NH-A	brain:	n/a
16	chr17:18324895-18324945	ovcar-3	ovarian:	n/a
17	chr17:18287814-18287864	HRCEpiC	kidney:	n/a
18	chr17:18287814-18287864	HRPEpiC	eye:	n/a
19	chr17:18285838-18285888	NHDF-neo	bronchial:	n/a
20	chr17:18290668-18290718	RPTEC	kidney:	n/a
21	chr17:18286412-18286462	HCM	heart:	n/a
22	chr17:18428092-18428142	HAEpiC	amniotic membrane:	n/a
23	chr17:18285810-18285860	Hela-S3	cervix:	n/a
24	chr17:18431043-18431093	Caco-2	colon:	n/a
25	chr17:18285838-18285888	SKMC	muscle:	n/a
26	chr17:18281021-18281071	Caco-2	colon:	n/a
27	chr17:18419896-18419946	HIPEpiC	eye:	n/a
28	chr17:18285838-18285888	PANC-1	pancreas:	n/a
29	chr17:18285810-18285860	SK-N-MC	brain:	n/a
30	chr17:18324895-18324945	HRPEpiC	eye:	n/a
31	chr17:18283586-18283636	SK-N-MC	brain:	n/a
32	chr17:18325001-18325051	HRPEpiC	eye:	n/a
33	chr17:18380159-18380209	ProgFib	skin:	n/a
34	chr17:18313121-18313171	BJ	skin:	n/a
35	chr17:18431043-18431093	RPTEC	kidney:	n/a
36	chr17:18287814-18287864	NT2-D1	testis:	n/a
37	chr17:18313048-18313098	PrEC	prostate:	n/a
38	chr17:18325001-18325051	HIPEpiC	eye:	n/a
39	chr17:18397849-18397899	LNCaP	prostate:	n/a
40	chr17:18305305-18305355	HRE	kidney:	n/a
41	chr17:18429951-18430001	CMK	blood:	n/a
42	chr17:18325001-18325051	HUVEC	blood vessel:	n/a
43	chr17:18428092-18428142	HIPEpiC	eye:	n/a
44	chr17:18281021-18281071	PFSK-1	brain:	n/a
45	chr17:18286412-18286462	HRCEpiC	kidney:	n/a
46	chr17:18302510-18302560	SAEC	small airway:	n/a
47	chr17:18285838-18285888	HepG2	liver:	n/a
48	chr17:18286644-18286694	SKMC	muscle:	n/a
49	chr17:18285838-18285888	H1-hESC	embryonic stem cell:	embryo
50	chr17:18429951-18430001	NHDF-neo	bronchial:	n/a

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:18222850..18223360-chr17:18466465..18467335,2	MCF-7	breast:
2	chr17:18271062..18274039-chr17:18283398..18285584,2	MCF-7	breast:
3	chr17:18289123..18291183-chr17:20462480..20465308,2	MCF-7	breast:
4	chr17:18278481..18280376-chr17:18284493..18286607,2	K562	blood:
5	chr13:111365369..111366036-chr17:18280882..18281427,2	Hela-S3	cervix:
6	chr17:18266644..18269551-chr17:18275910..18277412,2	K562	blood:
7	chr17:18271062..18274039-chr17:18283398..18285584,2	MCF-7	breast:
8	chr17:18278481..18280376-chr17:18284493..18286607,2	K562	blood:
9	chr17:18273227..18274953-chr17:18289917..18291736,2	K562	blood:
10	chr17:18273227..18274953-chr17:18289917..18291736,2	K562	blood:
11	chr17:18271239..18274758-chr17:18277396..18280809,3	MCF-7	breast:
12	chr17:18272997..18276591-chr17:18278173..18282382,3	MCF-7	breast:
13	chr17:18160932..18162896-chr17:18279447..18281125,2	MCF-7	breast:
14	chr17:18267096..18271121-chr17:18271318..18274892,4	K562	blood:
15	chr17:18274257..18276063-chr17:18279560..18281416,2	K562	blood:
16	chr17:18218839..18221214-chr17:18276166..18278374,2	MCF-7	breast:
17	chr17:18269319..18271121-chr17:18273220..18274892,2	K562	blood:
18	chr17:18271239..18274758-chr17:18277396..18280809,3	MCF-7	breast:
19	chr17:18266722..18268365-chr17:18275980..18278903,2	MCF-7	breast:

(count:90 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM106A-2	chr17:18422796-18422988	ENSG00000273018.1
2	lnc-FAM106A-2	chr17:18424393-18424459	ENSG00000273018.1
3	lnc-FAM106A-2	chr17:18420696-18420787	ENSG00000273018.1
4	lnc-FAM106A-2	chr17:18422796-18422988	ENSG00000273018.1
5	lnc-FAM106A-2	chr17:18427091-18427711	ENSG00000273018.1
6	lnc-FAM106A-2	chr17:18431887-18432061	ENSG00000273018.1
7	lnc-FAM106A-2	chr17:18422796-18422988	ENSG00000273018.1
8	lnc-FAM106A-2	chr17:18422796-18422988	ENSG00000273018.1
9	lnc-FAM106A-2	chr17:18430884-18431074	ENSG00000273018.1
10	lnc-FAM106A-2	chr17:18435820-18435911	ENSG00000273018.1
11	lnc-FAM106A-2	chr17:18445402-18445501	ENSG00000273018.1
12	lnc-FAM106A-2	chr17:18427120-18427191	ENSG00000273018.1
13	lnc-FAM106A-2	chr17:18435820-18436192	ENSG00000273018.1
14	lnc-FAM106A-2	chr17:18445402-18445501	ENSG00000273018.1
15	lnc-FAM106A-2	chr17:18431887-18431914	ENSG00000273018.1
16	lnc-FAM106A-2	chr17:18431887-18432061	ENSG00000273018.1
17	lnc-FAM106A-1	chr17:18427880-18430160	NR_026809
18	lnc-FAM106A-2	chr17:18436661-18437376	ENSG00000273018.1
19	lnc-FAM106A-2	chr17:18420725-18420787	ENSG00000273018.1
20	lnc-FAM106A-2	chr17:18436661-18436705	ENSG00000273018.1
21	lnc-FAM106A-2	chr17:18436661-18436852	ENSG00000273018.1
22	lnc-FAM106A-2	chr17:18431887-18432126	NONHSAT146381
23	lnc-FAM106A-2	chr17:18427457-18427714	ENSG00000273018.1
24	lnc-FAM106A-2	chr17:18420696-18420787	ENSG00000273018.1
25	lnc-FAM106A-2	chr17:18444241-18444550	ENSG00000273018.1
26	lnc-FAM106A-2	chr17:18446183-18446301	ENSG00000273018.1
27	lnc-AL353997.5.1-5	chr17:18380114-18380207	NONHSAT146376
28	lnc-FAM106A-2	chr17:18446987-18447029	ENSG00000273018.1
29	lnc-AL353997.5.1-6	chr17:18395483-18395859	NONHSAT146378
30	lnc-FAM106A-2	chr17:18435820-18435911	ENSG00000273018.1
31	lnc-FAM106A-2	chr17:18427091-18427191	ENSG00000273018.1
32	lnc-AL353997.5.1-2	chr17:18315660-18315823	XLOC_012131
33	lnc-AL353997.5.1-1	chr17:18328108-18328411	ENSG00000205266.5
34	lnc-FAM106A-2	chr17:18435820-18435911	ENSG00000273018.1
35	lnc-FAM106A-2	chr17:18426379-18426609	NONHSAT146382
36	lnc-AL353997.5.1-4	chr17:18343740-18343831	NONHSAT146373
37	lnc-FAM106A-2	chr17:18435820-18435911	ENSG00000273018.1
38	lnc-FAM106A-2	chr17:18431887-18432061	ENSG00000273018.1
39	lnc-FAM106A-2	chr17:18431887-18432298	ENSG00000273018.1
40	lnc-FAM106A-2	chr17:18435820-18435911	ENSG00000273018.1
41	lnc-FAM106A-2	chr17:18431887-18432061	ENSG00000273018.1
42	lnc-AL353997.5.1-4	chr17:18344268-18344334	NONHSAT146373
43	lnc-FAM106A-2	chr17:18427091-18427191	ENSG00000273018.1
44	lnc-AL353997.5.1-5	chr17:18387189-18387649	NONHSAT146376
45	lnc-FAM106A-2	chr17:18422796-18422988	ENSG00000273018.1
46	lnc-FAM106A-2	chr17:18422796-18422988	ENSG00000273018.1
47	lnc-AL353997.5.1-6	chr17:18395939-18396053	NONHSAT146378
48	lnc-FAM106A-2	chr17:18454820-18454999	ENSG00000273018.1
49	lnc-FAM106A-2	chr17:18422796-18422988	NONHSAT146381
50	lnc-AL353997.5.1-2	chr17:18315789-18316112	XLOC_012131

No data

Variant related genes	Relation type
ENSG00000205266	TF binding region
USP32P2	TF binding region
ENSG00000267492	TF binding region
KRT16P1	TF binding region
ENSG00000267441	TF binding region
YWHAEP2	TF binding region
EVPLL	TF binding region
KRT17P2	TF binding region
SRP68P2	TF binding region
NOS2P2	TF binding region
TBC1D3P4	TF binding region
ENSG00000264177	TF binding region
KRT16P4	TF binding region
LGALS9C	TF binding region
ENSG00000227919	TF binding region
TNPO1P2	TF binding region
ENSG00000240279	TF binding region
ENSG00000227077	TF binding region
FAM106A	TF binding region
ENSG00000220161	TF binding region
CCDC144B	TF binding region
ENSG00000273018	TF binding region
ENSG00000205266	CpG island
USP32P2	CpG island
ENSG00000267492	CpG island
KRT16P1	CpG island
ENSG00000267441	CpG island
YWHAEP2	CpG island
EVPLL	CpG island
KRT17P2	CpG island
SRP68P2	CpG island
NOS2P2	CpG island
TBC1D3P4	CpG island
ENSG00000264177	CpG island
KRT16P4	CpG island
LGALS9C	CpG island
ENSG00000227919	CpG island
TNPO1P2	CpG island
ENSG00000240279	CpG island
ENSG00000227077	CpG island
FAM106A	CpG island
ENSG00000220161	CpG island
CCDC144B	CpG island
ENSG00000273018	CpG island
ENSG00000214860	chromatin interactions
ENSG00000153487	chromatin interactions
ENSG00000176974	chromatin interactions
ENSG00000263946	chromatin interactions
ENSG00000177731	chromatin interactions
ENSG00000134905	chromatin interactions
KIAA0664	miRNA target sites
KIAA0528	miRNA target sites

Extended variants
information (count: 4579 )
Associated
traits (count: 169 )

Variant overlapped rSNPs/rCNVs (count:4579 , 50 per page) page: 1 2 3 4 5 6 7 ... 92

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567861350	chr17:18272551-18272552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536982977	chr17:18272555-18272556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs566514886	chr17:18272595-18272596	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374558033	chr17:18272606-18272607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191066443	chr17:18272607-18272608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576401741	chr17:18272642-18272643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183210981	chr17:18272643-18272644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs559101253	chr17:18272670-18272671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572609388	chr17:18272692-18272693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541222905	chr17:18272701-18272702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568938565	chr17:18272708-18272709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561162381	chr17:18272725-18272726	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113927616	chr17:18272726-18272727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
14	rs543715458	chr17:18272746-18272747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563108838	chr17:18272762-18272763	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541572979	chr17:18272766-18272767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532136340	chr17:18272792-18272793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11657395	chr17:18272800-18272801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs62074169	chr17:18272818-18272819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113499940	chr17:18272856-18272857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527901527	chr17:18272866-18272867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548076554	chr17:18272891-18272892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113215893	chr17:18272927-18272928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528219302	chr17:18272947-18272948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs547566019	chr17:18272977-18272978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs567885408	chr17:18273005-18273006	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs533695260	chr17:18273028-18273029	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs550474756	chr17:18273047-18273048	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs554641894	chr17:18273050-18273051	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs569908409	chr17:18273139-18273140	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs539023123	chr17:18273153-18273154	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs550195571	chr17:18273167-18273168	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs116076546	chr17:18273171-18273172	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs569991414	chr17:18273191-18273192	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs187872900	chr17:18273236-18273237	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs535156473	chr17:18273308-18273309	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs190786913	chr17:18273361-18273362	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs139319135	chr17:18273462-18273463	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs150017703	chr17:18273494-18273495	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs779536	chr17:18273514-18273515	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs810490	chr17:18273544-18273545	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs543304944	chr17:18273558-18273559	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs372902564	chr17:18273560-18273561	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs183588961	chr17:18273580-18273581	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs576170270	chr17:18273645-18273646	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs576767849	chr17:18273651-18273652	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs57603936	chr17:18273654-18273655	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs113060859	chr17:18273664-18273665	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs376143785	chr17:18273677-18273678	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs531505043	chr17:18273679-18273680	Weak transcription Enhancers	Chromatin interactive 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	22522925	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
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD

Chromatin state (count:964 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18267200-18274600	Weak transcription	NHEK	skin
2	chr17:18267200-18288200	Weak transcription	Right Atrium	heart
3	chr17:18267400-18274600	Weak transcription	Hela-S3	cervix
4	chr17:18267400-18277400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr17:18267600-18274800	Weak transcription	K562	blood
6	chr17:18271800-18273800	Enhancers	Placenta	Placenta
7	chr17:18272200-18272600	Enhancers	A549	lung
8	chr17:18272200-18272800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr17:18272600-18274600	Weak transcription	A549	lung
10	chr17:18273800-18276000	Weak transcription	Placenta	Placenta
11	chr17:18274400-18275000	Enhancers	Liver	Liver
12	chr17:18274600-18275000	Enhancers	NHEK	skin
13	chr17:18274600-18275200	Enhancers	A549	lung
14	chr17:18274600-18275400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr17:18274600-18275800	Enhancers	Hela-S3	cervix
16	chr17:18274600-18276600	Enhancers	GM12878-XiMat	blood
17	chr17:18274800-18275000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr17:18274800-18275000	Bivalent Enhancer	NHLF	lung
19	chr17:18274800-18275200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr17:18274800-18275200	Enhancers	K562	blood
21	chr17:18275000-18280200	Weak transcription	NHEK	skin
22	chr17:18275200-18277400	Weak transcription	A549	lung
23	chr17:18275800-18277200	Weak transcription	Hela-S3	cervix
24	chr17:18276000-18276600	Enhancers	Placenta	Placenta
25	chr17:18276600-18277400	Weak transcription	Placenta	Placenta
26	chr17:18277200-18277800	Enhancers	Hela-S3	cervix
27	chr17:18277400-18277600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr17:18277400-18277600	Enhancers	Placenta	Placenta
29	chr17:18277400-18277800	Enhancers	A549	lung
30	chr17:18277800-18280600	Weak transcription	Hela-S3	cervix
31	chr17:18277800-18281000	Weak transcription	A549	lung
32	chr17:18278400-18278800	Weak transcription	Thymus	Thymus
33	chr17:18278800-18279000	ZNF genes & repeats	Thymus	Thymus
34	chr17:18279000-18280600	Weak transcription	Thymus	Thymus
35	chr17:18279800-18280600	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr17:18279800-18281400	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr17:18279800-18281400	Enhancers	Spleen	Spleen
38	chr17:18279800-18281800	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr17:18280200-18281000	Enhancers	NHEK	skin
40	chr17:18280400-18280600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr17:18280400-18280600	Enhancers	HepG2	liver
42	chr17:18280400-18281600	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr17:18280400-18281600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr17:18280400-18284200	Enhancers	Stomach Mucosa	stomach
45	chr17:18280600-18280800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr17:18280600-18280800	Flanking Active TSS	Hela-S3	cervix
47	chr17:18280600-18281000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr17:18280600-18281200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr17:18280600-18281200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr17:18280600-18281200	Flanking Active TSS	HepG2	liver

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