Variant report

Variant	esv1825325
Chromosome Location	chr17:18354335-18431736
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:483)
CpG islands
(count:674)
Chromatin interactive
region (count:0)
LncRNA
region (count:40)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:483 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr17:18355389-18355575	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr17:18362390-18362672	H1-hESC	embryonic stem cell:	n/a	n/a
3	BATF	chr17:18396259-18396664	GM12878	blood:	n/a	chr17:18396479-18396490
4	BATF	chr17:18379787-18380078	GM12878	blood:	n/a	n/a
5	BATF	chr17:18410950-18411370	GM12878	blood:	n/a	chr17:18411156-18411166 chr17:18411155-18411166
6	BATF	chr17:18411051-18411300	GM12878	blood:	n/a	chr17:18411156-18411166 chr17:18411155-18411166
7	BATF	chr17:18379801-18380128	GM12878	blood:	n/a	n/a
8	BATF	chr17:18396335-18396562	GM12878	blood:	n/a	chr17:18396479-18396490
9	BCL11A	chr17:18379766-18380162	GM12878	blood:	n/a	n/a
10	BCL11A	chr17:18424410-18424651	GM12878	blood:	n/a	n/a
11	BCL11A	chr17:18379825-18380074	GM12878	blood:	n/a	n/a
12	BCL11A	chr17:18378052-18378384	GM12878	blood:	n/a	n/a
13	BHLHE40	chr17:18424672-18424862	GM12878	blood:	n/a	n/a
14	BHLHE40	chr17:18396537-18396565	K562	blood:	n/a	n/a
15	CEBPB	chr17:18362210-18362602	Hela-S3	cervix:	n/a	chr17:18362363-18362376
16	CEBPB	chr17:18362356-18362662	IMR90	lung:	n/a	chr17:18362363-18362376
17	CTCF	chr17:18400429-18400672	A549	lung:	n/a	n/a
18	CTCF	chr17:18403691-18403943	A549	lung:	n/a	n/a
19	CTCF	chr17:18429608-18429640	Spleen_OC	spleen:	n/a	n/a
20	CTCF	chr17:18392977-18393087	GM13976	blood:	n/a	n/a
21	CTCF	chr17:18400495-18400709	IMR90	lung:	n/a	n/a
22	CTCF	chr17:18403736-18403897	K562	blood:	n/a	n/a
23	CTCF	chr17:18400514-18400622	GM12878	blood:	n/a	n/a
24	CTCF	chr17:18400502-18400663	GM12891	blood:	n/a	n/a
25	CTCF	chr17:18400368-18400707	A549	lung:	n/a	n/a
26	CTCF	chr17:18400380-18400530	NHEK	skin:	n/a	n/a
27	CTCF	chr17:18360846-18360874	Pancreas_OC	pancreas:	n/a	n/a
28	CTCF	chr17:18400520-18400750	AG04449	skin:	n/a	n/a
29	CTCF	chr17:18381209-18381333	GM19240	blood:	n/a	chr17:18381256-18381277 chr17:18381261-18381279 chr17:18381264-18381274 chr17:18381262-18381278
30	CTCF	chr17:18400493-18400677	GM13977	blood:	n/a	n/a
31	CTCF	chr17:18403556-18404144	A549	lung:	n/a	n/a
32	CTCF	chr17:18400380-18400670	GM12875	blood:	n/a	n/a
33	CTCF	chr17:18429619-18429651	Kidney_OC	kidney:	n/a	n/a
34	CTCF	chr17:18428396-18428715	A549	lung:	n/a	chr17:18428545-18428561 chr17:18428546-18428567
35	CTCF	chr17:18400451-18400688	GM12878	blood:	n/a	n/a
36	CTCF	chr17:18400380-18400530	HPF	lung:	n/a	n/a
37	CTCF	chr17:18403785-18403801	GM20000	blood:	n/a	n/a
38	CTCF	chr17:18400380-18400530	BJ	skin:	n/a	n/a
39	CTCF	chr17:18428470-18428627	GM10266	blood:	n/a	chr17:18428545-18428561 chr17:18428546-18428567
40	CTCF	chr17:18403738-18403868	GM12892	blood:	n/a	n/a
41	CTCF	chr17:18398155-18398202	Kidney_OC	kidney:	n/a	n/a
42	CTCF	chr17:18428466-18428592	GM12892	blood:	n/a	chr17:18428545-18428561 chr17:18428546-18428567
43	CTCF	chr17:18355310-18355403	Lung_OC	lung:	n/a	n/a
44	CTCF	chr17:18355360-18355510	HMEC	breast:	n/a	chr17:18355490-18355499
45	CTCF	chr17:18371898-18371975	Kidney_OC	kidney:	n/a	n/a
46	CTCF	chr17:18400360-18400510	HRE	kidney:	n/a	n/a
47	CTCF	chr17:18392118-18392178	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr17:18403794-18403837	GM13977	blood:	n/a	n/a
49	CTCF	chr17:18355394-18355409	MCF-7	breast:	n/a	n/a
50	CTCF	chr17:18400475-18400657	GM19239	blood:	n/a	n/a

(count:674 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:18431043-18431093	K562	blood:	n/a
2	chr17:18429951-18430001	NT2-D1	testis:	n/a
3	chr17:18419896-18419946	Jurkat	blood:	n/a
4	chr17:18431043-18431093	K562	blood:	n/a
5	chr17:18429951-18430001	NT2-D1	testis:	n/a
6	chr17:18419896-18419946	Jurkat	blood:	n/a
7	chr17:18378879-18378929	ProgFib	skin:	n/a
8	chr17:18431043-18431093	PFSK-1	brain:	n/a
9	chr17:18419896-18419946	AG10803	skin:	n/a
10	chr17:18429951-18430001	AG09319	gingival:	n/a
11	chr17:18419896-18419946	A549	lung:	n/a
12	chr17:18428092-18428142	NT2-D1	testis:	n/a
13	chr17:18397849-18397899	HMEC	breast:	n/a
14	chr17:18378879-18378929	GM12878	blood:	n/a
15	chr17:18378879-18378929	HCPEpiC	choroid plexus:	n/a
16	chr17:18419896-18419946	NHDF-neo	bronchial:	n/a
17	chr17:18429951-18430001	Caco-2	colon:	n/a
18	chr17:18428092-18428142	HUVEC	blood vessel:	n/a
19	chr17:18429951-18430001	HEK293	kidney:	embryo
20	chr17:18428092-18428142	AG04449	skin:	fetal
21	chr17:18421335-18421385	HEEpiC	esophagus:	n/a
22	chr17:18430908-18430958	AG09309	skin:	n/a
23	chr17:18380354-18380404	HL-60	blood:	n/a
24	chr17:18419896-18419946	T-47D	breast:	n/a
25	chr17:18430908-18430958	IMR90	lung:	fetal
26	chr17:18428092-18428142	BJ	skin:	n/a
27	chr17:18430908-18430958	RPTEC	kidney:	n/a
28	chr17:18419896-18419946	AoSMC	blood vessel:	n/a
29	chr17:18380159-18380209	SKMC	muscle:	n/a
30	chr17:18431043-18431093	T-47D	breast:	n/a
31	chr17:18421335-18421385	HL-60	blood:	n/a
32	chr17:18379129-18379179	AG10803	skin:	n/a
33	chr17:18397849-18397899	NT2-D1	testis:	n/a
34	chr17:18430908-18430958	NH-A	brain:	n/a
35	chr17:18421335-18421385	NB4	blood:	n/a
36	chr17:18430908-18430958	AG09319	gingival:	n/a
37	chr17:18430908-18430958	PFSK-1	brain:	n/a
38	chr17:18429951-18430001	A549	lung:	n/a
39	chr17:18419896-18419946	HCM	heart:	n/a
40	chr17:18431043-18431093	GM12892	blood:	n/a
41	chr17:18419896-18419946	GM12892	blood:	n/a
42	chr17:18379129-18379179	RPTEC	kidney:	n/a
43	chr17:18421335-18421385	NHBE	bronchial:	n/a
44	chr17:18378879-18378929	RPTEC	kidney:	n/a
45	chr17:18419896-18419946	NB4	blood:	n/a
46	chr17:18430908-18430958	HRCEpiC	kidney:	n/a
47	chr17:18397849-18397899	BE2_C	brain:	n/a
48	chr17:18397849-18397899	Hepatocyte	liver:	n/a
49	chr17:18397849-18397899	HPAEpiC	pulmonary alveolar:	n/a
50	chr17:18380159-18380209	BE2_C	brain:	n/a

No data

(count:40 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM106A-2	chr17:18420633-18420787	NONHSAT146382
2	lnc-FAM106A-2	chr17:18420725-18420787	ENSG00000273018.1
3	lnc-FAM106A-2	chr17:18427457-18427714	ENSG00000273018.1
4	lnc-AL353997.5.1-5	chr17:18380114-18380207	NONHSAT146376
5	lnc-FAM106A-2	chr17:18424393-18424459	ENSG00000273018.1
6	lnc-AL353997.5.1-6	chr17:18395939-18396053	NONHSAT146378
7	lnc-FAM106A-2	chr17:18422796-18422988	ENSG00000273018.1
8	lnc-FAM106A-2	chr17:18422958-18422988	ENSG00000273018.1
9	lnc-AL353997.5.1-5	chr17:18387189-18387649	NONHSAT146376
10	lnc-FAM106A-2	chr17:18427120-18427191	ENSG00000273018.1
11	lnc-AL353997.5.1-6	chr17:18395483-18395859	NONHSAT146378
12	lnc-FAM106A-2	chr17:18422796-18422988	ENSG00000273018.1
13	lnc-FAM106A-2	chr17:18420696-18420787	ENSG00000273018.1
14	lnc-FAM106A-2	chr17:18427091-18427191	ENSG00000273018.1
15	lnc-FAM106A-2	chr17:18427091-18427191	ENSG00000273018.1
16	lnc-FAM106A-2	chr17:18430884-18431074	ENSG00000273018.1
17	lnc-FAM106A-2	chr17:18422796-18422988	ENSG00000273018.1
18	lnc-FAM106A-2	chr17:18420696-18420787	ENSG00000273018.1
19	lnc-FAM106A-2	chr17:18420604-18420787	NONHSAT146381
20	lnc-FAM106A-2	chr17:18422796-18422988	ENSG00000273018.1
21	lnc-FAM106A-2	chr17:18422796-18422988	ENSG00000273018.1
22	lnc-FAM106A-2	chr17:18430884-18431074	ENSG00000273018.1
23	lnc-FAM106A-2	chr17:18427091-18427191	ENSG00000273018.1
24	lnc-FAM106A-2	chr17:18422796-18422988	ENSG00000273018.1
25	lnc-FAM106A-1	chr17:18427880-18430160	NR_026809
26	lnc-FAM106A-2	chr17:18420696-18420787	ENSG00000273018.1
27	lnc-FAM106A-2	chr17:18426379-18426609	NONHSAT146382
28	lnc-FAM106A-2	chr17:18420604-18420787	ENSG00000273018.1
29	lnc-FAM106A-2	chr17:18422796-18422988	NONHSAT146381
30	lnc-FAM106A-2	chr17:18422796-18422988	ENSG00000273018.1
31	lnc-FAM106A-2	chr17:18422796-18422988	ENSG00000273018.1
32	lnc-FAM106A-2	chr17:18420696-18420787	ENSG00000273018.1
33	lnc-FAM106A-2	chr17:18427091-18427711	ENSG00000273018.1
34	lnc-FAM106A-2	chr17:18420696-18420787	ENSG00000273018.1
35	lnc-FAM106A-2	chr17:18420696-18420787	ENSG00000273018.1
36	lnc-FAM106A-2	chr17:18420696-18420787	ENSG00000273018.1
37	lnc-FAM106A-2	chr17:18422796-18422988	ENSG00000273018.1
38	lnc-FAM106A-2	chr17:18422796-18422988	ENSG00000273018.1
39	lnc-FAM106A-2	chr17:18426965-18427191	ENSG00000273018.1
40	lnc-FAM106A-2	chr17:18422796-18422988	NONHSAT146382

No data

Variant related genes	Relation type
USP32P2	TF binding region
LGALS9C	TF binding region
ENSG00000227919	TF binding region
ENSG00000267492	TF binding region
TNPO1P2	TF binding region
FAM106A	TF binding region
SRP68P2	TF binding region
NOS2P2	TF binding region
ENSG00000273018	TF binding region
USP32P2	CpG island
LGALS9C	CpG island
ENSG00000227919	CpG island
ENSG00000267492	CpG island
TNPO1P2	CpG island
FAM106A	CpG island
SRP68P2	CpG island
NOS2P2	CpG island
ENSG00000273018	CpG island

Extended variants
information (count: 1992 )
Associated
traits (count: 168 )

Variant overlapped rSNPs/rCNVs (count:1992 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200103996	chr17:18354340-18354341	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567080843	chr17:18354386-18354387	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188060027	chr17:18354423-18354424	Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371538158	chr17:18354457-18354458	Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141898341	chr17:18354462-18354463	Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
6	rs375579282	chr17:18354467-18354468	Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs526547	chr17:18354468-18354469	Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575179345	chr17:18354495-18354496	Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs184830512	chr17:18354515-18354516	Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554094111	chr17:18354516-18354517	Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs189249091	chr17:18354532-18354533	Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
12	rs538246529	chr17:18354536-18354537	Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs558256199	chr17:18354558-18354559	Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs181609813	chr17:18354565-18354566	Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540757489	chr17:18354605-18354606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560069446	chr17:18354625-18354626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs573829379	chr17:18354636-18354637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1682246	chr17:18354645-18354646	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
19	rs562443648	chr17:18354656-18354657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112967636	chr17:18354697-18354698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550975950	chr17:18354722-18354723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1682245	chr17:18354726-18354727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564571674	chr17:18354772-18354773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199948270	chr17:18354813-18354814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs527372639	chr17:18354853-18354854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547515949	chr17:18354969-18354970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs566943046	chr17:18354991-18354992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs116577020	chr17:18355010-18355011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549651958	chr17:18355193-18355194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569593804	chr17:18355194-18355195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538209615	chr17:18355372-18355373	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs558170152	chr17:18355376-18355377	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs140274939	chr17:18355400-18355401	Weak transcription Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
34	rs577993901	chr17:18355404-18355405	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs534034209	chr17:18355407-18355408	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs554284833	chr17:18355424-18355425	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs62076318	chr17:18355428-18355429	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs375677960	chr17:18355434-18355435	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs496440	chr17:18355439-18355440	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs367770134	chr17:18355478-18355479	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs542432685	chr17:18355479-18355480	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs562406894	chr17:18355489-18355490	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs184220188	chr17:18355520-18355521	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs148418132	chr17:18355521-18355522	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs201361562	chr17:18355559-18355560	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs189614147	chr17:18355566-18355567	Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs181104895	chr17:18355609-18355610	Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs527328867	chr17:18355614-18355615	Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs540723117	chr17:18355631-18355632	Flanking Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs561047822	chr17:18355660-18355661	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:168)

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
Non-syndromic sensorineural hearing loss	19212409	CNVD

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18351400-18355400	Weak transcription	NHEK	skin
2	chr17:18353600-18354400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr17:18353600-18354600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr17:18354400-18354600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr17:18354600-18355400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr17:18354600-18355400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr17:18355400-18355600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr17:18355400-18355600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr17:18355400-18355800	Enhancers	NHEK	skin
10	chr17:18355600-18355800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr17:18355600-18355800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr17:18361000-18362400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr17:18361600-18361800	Enhancers	Hela-S3	cervix
14	chr17:18361600-18362000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr17:18362000-18362400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr17:18362200-18362600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr17:18362200-18362600	Active TSS	A549	lung
18	chr17:18362200-18362800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr17:18362400-18362600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr17:18362400-18362600	Bivalent Enhancer	Fetal Lung	lung
21	chr17:18362400-18362600	Active TSS	Hela-S3	cervix
22	chr17:18362400-18362800	Enhancers	H1 Cell Line	embryonic stem cell
23	chr17:18362400-18362800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr17:18362400-18362800	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr17:18362400-18362800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr17:18362400-18362800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr17:18362400-18363400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr17:18362600-18362800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr17:18362600-18362800	Enhancers	Muscle Satellite Cultured Cells	--
30	chr17:18362600-18362800	Flanking Active TSS	Hela-S3	cervix
31	chr17:18362600-18362800	Enhancers	Osteobl	bone
32	chr17:18362600-18372000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr17:18367200-18367400	Enhancers	Fetal Intestine Large	intestine
34	chr17:18370000-18380000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr17:18370400-18370600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr17:18370600-18371000	Enhancers	Esophagus	oesophagus
37	chr17:18371000-18372000	Weak transcription	Esophagus	oesophagus
38	chr17:18372000-18372200	Enhancers	Esophagus	oesophagus
39	chr17:18372000-18372200	Enhancers	NHEK	skin
40	chr17:18372000-18372400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr17:18372200-18375200	Weak transcription	Esophagus	oesophagus
42	chr17:18372200-18379800	Weak transcription	NHEK	skin
43	chr17:18377800-18378000	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr17:18377800-18382600	Weak transcription	Esophagus	oesophagus
45	chr17:18378000-18378800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr17:18378200-18378400	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr17:18378200-18381400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr17:18378600-18379600	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr17:18378800-18379000	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr17:18379000-18379800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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