Variant report

Variant	nsv907739
Chromosome Location	chr17:17404586-17424333
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:258)
CpG islands
(count:244)
Chromatin interactive
region (count:36)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:258 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr17:17412516-17412612	K562	blood:	n/a	n/a
2	BHLHE40	chr17:17415310-17415513	K562	blood:	n/a	n/a
3	CEBPB	chr17:17415261-17415620	IMR90	lung:	n/a	n/a
4	CEBPB	chr17:17410766-17411077	HepG2	liver:	n/a	chr17:17410908-17410921 chr17:17410908-17410919 chr17:17410910-17410919 chr17:17410908-17410921 chr17:17410910-17410921
5	CEBPB	chr17:17410775-17411042	IMR90	lung:	n/a	chr17:17410908-17410921 chr17:17410908-17410919 chr17:17410910-17410919 chr17:17410908-17410921 chr17:17410910-17410921
6	CEBPB	chr17:17418817-17419159	IMR90	lung:	n/a	chr17:17418961-17418972 chr17:17418961-17418974 chr17:17418960-17418977 chr17:17418961-17418972
7	CEBPB	chr17:17418611-17418647	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPB	chr17:17418912-17419112	H1-hESC	embryonic stem cell:	n/a	chr17:17418961-17418972 chr17:17418961-17418974 chr17:17418960-17418977 chr17:17418961-17418972
9	CEBPB	chr17:17410749-17411084	K562	blood:	n/a	chr17:17410908-17410921 chr17:17410908-17410919 chr17:17410910-17410919 chr17:17410908-17410921 chr17:17410910-17410921
10	CEBPB	chr17:17410796-17411057	A549	lung:	n/a	chr17:17410908-17410921 chr17:17410908-17410919 chr17:17410910-17410919 chr17:17410908-17410921 chr17:17410910-17410921
11	CEBPB	chr17:17405716-17405855	IMR90	lung:	n/a	n/a
12	CHD1	chr17:17417622-17417643	H1-hESC	embryonic stem cell:	n/a	n/a
13	CHD1	chr17:17415120-17415691	IMR90	lung:	n/a	n/a
14	CHD2	chr17:17418476-17418657	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD2	chr17:17407915-17407918	HepG2	liver:	n/a	n/a
16	CTCF	chr17:17414660-17414810	HRPEpiC	eye:	n/a	chr17:17414739-17414757
17	CTCF	chr17:17404720-17404870	AG04449	skin:	n/a	n/a
18	CTCF	chr17:17414600-17414750	HRPEpiC	eye:	n/a	n/a
19	CTCF	chr17:17404266-17404758	HCT-116	colon:	n/a	n/a
20	CTCF	chr17:17415360-17415510	AG09309	skin:	n/a	chr17:17415473-17415486
21	CTCF	chr17:17420380-17420530	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr17:17404460-17404610	HBMEC	blood vessel:	n/a	n/a
23	CTCF	chr17:17404390-17404632	MCF-7	breast:	n/a	n/a
24	CTCF	chr17:17404349-17404790	MCF-7	breast:	n/a	n/a
25	CTCF	chr17:17404440-17404590	AG04450	lung:	n/a	n/a
26	CTCF	chr17:17414620-17414770	GM12869	blood:	n/a	chr17:17414739-17414757
27	CTCF	chr17:17404264-17404719	MCF-7	breast:	n/a	n/a
28	CTCF	chr17:17415360-17415510	NHEK	skin:	n/a	chr17:17415473-17415486
29	CTCF	chr17:17414700-17414850	WERI-Rb-1	eye:	n/a	chr17:17414739-17414757
30	CTCF	chr17:17404426-17404597	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr17:17414748-17414815	K562	blood:	n/a	n/a
32	CTCF	chr17:17413006-17413062	GM19239	blood:	n/a	chr17:17413036-17413052
33	CTCF	chr17:17412860-17413010	K562	blood:	n/a	chr17:17412950-17412958 chr17:17412951-17412959
34	CTCF	chr17:17413000-17413150	Caco-2	colon:	n/a	chr17:17413036-17413052
35	CTCF	chr17:17415460-17415610	AG04449	skin:	n/a	chr17:17415473-17415486
36	CTCF	chr17:17404437-17404613	ProgFib	skin:	n/a	n/a
37	CTCF	chr17:17404440-17404590	AG09309	skin:	n/a	n/a
38	CTCF	chr17:17415388-17415505	NHEK	skin:	n/a	chr17:17415473-17415486
39	CTCF	chr17:17404376-17404656	GM19239	blood:	n/a	n/a
40	CTCF	chr17:17412920-17413070	GM12875	blood:	n/a	chr17:17412950-17412958 chr17:17412951-17412959 chr17:17413036-17413052
41	CTCF	chr17:17404440-17404590	SAEC	small airway:	n/a	n/a
42	CTCF	chr17:17420320-17420470	Caco-2	colon:	n/a	n/a
43	CTCF	chr17:17413041-17413042	GM12878	blood:	n/a	n/a
44	CTCF	chr17:17404338-17404658	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr17:17404480-17404630	HMEC	breast:	n/a	n/a
46	CTCF	chr17:17404460-17404610	HCT-116	colon:	n/a	n/a
47	CTCF	chr17:17414742-17414776	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr17:17412760-17412910	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr17:17407800-17407950	GM12864	blood:	n/a	n/a
50	CTCF	chr17:17413003-17413098	MCF-7	breast:	n/a	chr17:17413036-17413052

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:17414998-17415048	NT2-D1	testis:	n/a
2	chr17:17407880-17407930	MCF-7	breast:	n/a
3	chr17:17407880-17407930	AG09309	skin:	n/a
4	chr17:17409003-17409053	HIPEpiC	eye:	n/a
5	chr17:17409003-17409053	GM12878	blood:	n/a
6	chr17:17409003-17409053	A549	lung:	n/a
7	chr17:17409003-17409053	LNCaP	prostate:	n/a
8	chr17:17409003-17409053	RPTEC	kidney:	n/a
9	chr17:17407880-17407930	SAEC	small airway:	n/a
10	chr17:17407880-17407930	HCM	heart:	n/a
11	chr17:17409003-17409053	HepG2	liver:	n/a
12	chr17:17409003-17409053	NB4	blood:	n/a
13	chr17:17407880-17407930	BE2_C	brain:	n/a
14	chr17:17407880-17407930	HAEpiC	amniotic membrane:	n/a
15	chr17:17409003-17409053	AG09309	skin:	n/a
16	chr17:17407880-17407930	NB4	blood:	n/a
17	chr17:17414998-17415048	GM12878	blood:	n/a
18	chr17:17414998-17415048	NH-A	brain:	n/a
19	chr17:17407880-17407930	AG04450	lung:	fetal
20	chr17:17414998-17415048	SK-N-SH_RA	brain:	n/a
21	chr17:17418691-17418741	HCPEpiC	choroid plexus:	n/a
22	chr17:17414998-17415048	AG04449	skin:	fetal
23	chr17:17414998-17415048	HCT-116	colon:	n/a
24	chr17:17414998-17415048	HRCEpiC	kidney:	n/a
25	chr17:17418691-17418741	Caco-2	colon:	n/a
26	chr17:17407880-17407930	NT2-D1	testis:	n/a
27	chr17:17414998-17415048	CMK	blood:	n/a
28	chr17:17418691-17418741	NB4	blood:	n/a
29	chr17:17407880-17407930	HEK293	kidney:	embryo
30	chr17:17414998-17415048	ProgFib	skin:	n/a
31	chr17:17414998-17415048	HNPCEpiC	eye:	n/a
32	chr17:17414998-17415048	HIPEpiC	eye:	n/a
33	chr17:17407880-17407930	K562	blood:	n/a
34	chr17:17418691-17418741	MCF-7	breast:	n/a
35	chr17:17409003-17409053	SK-N-SH	brain:	n/a
36	chr17:17409003-17409053	Hela-S3	cervix:	n/a
37	chr17:17409003-17409053	HCT-116	colon:	n/a
38	chr17:17414998-17415048	RPTEC	kidney:	n/a
39	chr17:17418691-17418741	NHDF-neo	bronchial:	n/a
40	chr17:17414998-17415048	HEEpiC	esophagus:	n/a
41	chr17:17414998-17415048	PANC-1	pancreas:	n/a
42	chr17:17418691-17418741	SK-N-MC	brain:	n/a
43	chr17:17418691-17418741	AG04449	skin:	fetal
44	chr17:17407880-17407930	IMR90	lung:	fetal
45	chr17:17418691-17418741	U87	brain:	n/a
46	chr17:17414998-17415048	AG04450	lung:	fetal
47	chr17:17409003-17409053	U87	brain:	n/a
48	chr17:17418691-17418741	IMR90	lung:	fetal
49	chr17:17414998-17415048	MCF10A-Er-Src	breast:	n/a
50	chr17:17418691-17418741	AG09319	gingival:	n/a

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:17402735..17405355-chr17:17407250..17409232,2	K562	blood:
2	chr17:17407715..17410629-chr17:17418150..17421035,2	MCF-7	breast:
3	chr17:17422447..17424302-chr17:17424957..17427591,2	MCF-7	breast:
4	chr17:17404221..17407416-chr17:17410177..17412032,3	K562	blood:
5	chr17:17402799..17405333-chr17:17413416..17415879,2	K562	blood:
6	chr17:17404753..17406377-chr17:17407243..17409547,3	K562	blood:
7	chr17:17255931..17259232-chr17:17416483..17420040,4	K562	blood:
8	chr17:17254871..17257854-chr17:17406200..17408838,2	K562	blood:
9	chr17:17405820..17407609-chr17:17411201..17413921,2	MCF-7	breast:
10	chr17:17418461..17420867-chr17:17565358..17567430,2	K562	blood:
11	chr17:17400013..17403525-chr17:17411408..17414122,3	MCF-7	breast:
12	chr17:17396995..17404908-chr17:17406815..17414609,13	MCF-7	breast:
13	chr17:17417278..17420062-chr17:17491860..17494692,3	MCF-7	breast:
14	chr17:17415079..17418148-chr17:17445039..17448328,3	MCF-7	breast:
15	chr17:17259223..17259968-chr17:17404096..17405018,2	MCF-7	breast:
16	chr17:17412469..17415269-chr17:17430447..17432803,2	MCF-7	breast:
17	chr17:17405820..17407609-chr17:17411201..17413921,2	MCF-7	breast:
18	chr17:17417655..17420606-chr17:17424227..17426115,2	K562	blood:
19	chr17:17349656..17350278-chr17:17417464..17418315,2	MCF-7	breast:
20	chr17:17402799..17405333-chr17:17413416..17415879,2	K562	blood:
21	chr17:17403140..17409448-chr17:17410177..17415726,8	K562	blood:
22	chr17:17391754..17393754-chr17:17403950..17406372,2	MCF-7	breast:
23	chr17:17404753..17406377-chr17:17407243..17409547,3	K562	blood:
24	chr17:17415416..17417029-chr17:17420667..17422439,2	MCF-7	breast:
25	chr17:17396995..17404908-chr17:17406815..17414609,13	MCF-7	breast:
26	chr17:17398634..17401491-chr17:17403383..17405495,2	K562	blood:
27	chr17:17402735..17405355-chr17:17407250..17409232,2	K562	blood:
28	chr17:17414329..17416478-chr17:17418151..17420327,2	K562	blood:
29	chr17:17398131..17401509-chr17:17403115..17406009,4	MCF-7	breast:
30	chr17:17258335..17259042-chr17:17404049..17404955,3	MCF-7	breast:
31	chr17:17414329..17416478-chr17:17418151..17420327,2	K562	blood:
32	chr17:17413540..17416682-chr17:17491858..17494964,3	MCF-7	breast:
33	chr17:17396965..17400190-chr17:17416535..17418625,3	MCF-7	breast:
34	chr17:17377592..17379713-chr17:17402478..17404778,3	K562	blood:
35	chr17:17417655..17420606-chr17:17424227..17426115,2	K562	blood:
36	chr17:17399866..17402763-chr17:17404179..17406127,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MED9-1	chr17:17411095-17411622	ENSG00000265511.1
2	lnc-MED9-1	chr17:17410665-17410931	ENSG00000265511.1

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	PEMT	hsa-miR-124-3p	chr17:17408980-17408974
2	PEMT	hsa-miR-124-3p	chr17:17408974-17408994

Variant related genes	Relation type
PEMT	TF binding region
ENSG00000265511	TF binding region
RASD1	TF binding region
PEMT	CpG island
ENSG00000265511	CpG island
RASD1	CpG island
ENSG00000265511	chromatin interactions
ENSG00000264666	chromatin interactions
ENSG00000108551	chromatin interactions
ENSG00000133027	chromatin interactions

Extended variants
information (count: 826 )
Associated
traits (count: 162 )

Variant overlapped rSNPs/rCNVs (count:826 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7220132	chr17:17404586-17404587	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs528035351	chr17:17404595-17404596	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs548159980	chr17:17404616-17404617	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs139613311	chr17:17404637-17404638	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs569518395	chr17:17404655-17404656	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs550637430	chr17:17404689-17404690	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs570623976	chr17:17404696-17404697	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs35682866	chr17:17404716-17404717	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs533181324	chr17:17404790-17404791	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs373606693	chr17:17404814-17404815	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs7220217	chr17:17404819-17404820	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs144531747	chr17:17404827-17404828	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs12938634	chr17:17404886-17404887	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs568390359	chr17:17404889-17404890	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs192461713	chr17:17404934-17404935	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs114144869	chr17:17404935-17404936	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs12451764	chr17:17404944-17404945	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs567360751	chr17:17404947-17404948	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs141129601	chr17:17404957-17404958	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs553192648	chr17:17404981-17404982	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs572894133	chr17:17404984-17404985	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs184542129	chr17:17405016-17405017	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs561711992	chr17:17405026-17405027	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs535940445	chr17:17405047-17405048	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs544487521	chr17:17405150-17405151	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs564373651	chr17:17405163-17405164	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs56767863	chr17:17405170-17405171	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs546805323	chr17:17405216-17405217	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs190281590	chr17:17405224-17405225	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs59150865	chr17:17405273-17405274	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs548427367	chr17:17405328-17405329	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs568408075	chr17:17405332-17405333	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs537054320	chr17:17405407-17405408	Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs549375671	chr17:17405441-17405442	Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs144296021	chr17:17405476-17405477	Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs552951014	chr17:17405489-17405490	Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs570801456	chr17:17405502-17405503	Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs4479310	chr17:17405504-17405505	Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs55874034	chr17:17405577-17405578	Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs573393980	chr17:17405588-17405589	Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs541878084	chr17:17405593-17405594	Weak transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs181938203	chr17:17405601-17405602	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs144940997	chr17:17405602-17405603	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs544234318	chr17:17405620-17405621	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs185945726	chr17:17405623-17405624	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs115270628	chr17:17405647-17405648	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs189243241	chr17:17405652-17405653	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs111718799	chr17:17405677-17405678	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs560279543	chr17:17405683-17405684	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs149071339	chr17:17405689-17405690	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	22183965	CNVD

Chromatin state (count:516 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17399600-17413800	Weak transcription	Dnd41	blood
2	chr17:17400600-17406800	Weak transcription	Brain Angular Gyrus	brain
3	chr17:17400600-17409800	Weak transcription	Esophagus	oesophagus
4	chr17:17400600-17410000	Weak transcription	Liver	Liver
5	chr17:17400600-17415200	Weak transcription	Ovary	ovary
6	chr17:17400600-17422000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr17:17400800-17406400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr17:17400800-17407000	Weak transcription	Fetal Brain Female	brain
9	chr17:17400800-17409000	Weak transcription	Right Ventricle	heart
10	chr17:17400800-17413000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr17:17400800-17419200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr17:17401000-17406000	Weak transcription	Fetal Brain Male	brain
13	chr17:17401000-17406200	Weak transcription	Fetal Heart	heart
14	chr17:17401000-17406600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr17:17401000-17411200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr17:17401000-17418800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr17:17401000-17425400	Weak transcription	Thymus	Thymus
18	chr17:17401200-17411000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr17:17401200-17415200	Weak transcription	Gastric	stomach
20	chr17:17401400-17406400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr17:17401600-17406600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr17:17401600-17407000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr17:17401600-17409200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr17:17402200-17408200	Weak transcription	Fetal Intestine Small	intestine
25	chr17:17405400-17405600	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr17:17405600-17408800	Enhancers	Fetal Muscle Leg	muscle
27	chr17:17405600-17412000	Enhancers	Fetal Muscle Trunk	muscle
28	chr17:17405800-17413200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr17:17406000-17406200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr17:17406000-17408400	Enhancers	Fetal Brain Male	brain
31	chr17:17406200-17407400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr17:17406200-17415800	Enhancers	Fetal Heart	heart
33	chr17:17406400-17406600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr17:17406400-17406800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr17:17406400-17407400	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr17:17406600-17407000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr17:17406600-17408400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr17:17406600-17409000	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr17:17406600-17414600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr17:17406800-17407000	Enhancers	Brain Angular Gyrus	brain
41	chr17:17406800-17407600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr17:17406800-17407800	Enhancers	Brain Germinal Matrix	brain
43	chr17:17406800-17408000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr17:17406800-17408200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr17:17406800-17410600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr17:17407000-17407200	Enhancers	Brain Hippocampus Middle	brain
47	chr17:17407000-17407400	Enhancers	Fetal Stomach	stomach
48	chr17:17407000-17407800	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr17:17407000-17407800	Weak transcription	Brain Angular Gyrus	brain
50	chr17:17407000-17408000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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