Variant report

Variant	nsv2174
Chromosome Location	chr18:240074-285087
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr18:269422-269886	HepG2	liver:	n/a	n/a
2	ARID3A	chr18:267953-268346	HepG2	liver:	n/a	n/a
3	ARID3A	chr18:268051-268209	K562	blood:	n/a	n/a
4	ATF1	chr18:267856-268252	K562	blood:	n/a	n/a
5	ATF2	chr18:267806-268299	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr18:267573-268458	GM12878	blood:	n/a	n/a
7	ATF2	chr18:267677-268450	GM12878	blood:	n/a	n/a
8	ATF2	chr18:267857-268299	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF3	chr18:267904-268183	GM12878	blood:	n/a	chr18:268062-268075 chr18:268064-268072 chr18:268065-268072 chr18:268061-268076 chr18:268062-268075 chr18:268062-268072 chr18:268061-268074 chr18:268062-268072 chr18:268053-268073 chr18:268061-268072 chr18:268062-268073
10	ATF3	chr18:267636-268296	H1-hESC	embryonic stem cell:	n/a	chr18:268062-268075 chr18:268064-268072 chr18:268065-268072 chr18:268061-268076 chr18:268062-268075 chr18:268062-268072 chr18:268061-268074 chr18:268062-268072 chr18:268053-268073 chr18:268061-268072 chr18:268062-268073
11	ATF3	chr18:267819-268244	K562	blood:	n/a	chr18:268062-268075 chr18:268064-268072 chr18:268065-268072 chr18:268061-268076 chr18:268062-268075 chr18:268062-268072 chr18:268061-268074 chr18:268062-268072 chr18:268053-268073 chr18:268061-268072 chr18:268062-268073
12	ATF3	chr18:267842-268358	GM12878	blood:	n/a	chr18:268062-268075 chr18:268064-268072 chr18:268065-268072 chr18:268061-268076 chr18:268062-268075 chr18:268062-268072 chr18:268061-268074 chr18:268062-268072 chr18:268053-268073 chr18:268061-268072 chr18:268062-268073
13	ATF3	chr18:267910-268154	H1-hESC	embryonic stem cell:	n/a	chr18:268062-268075 chr18:268064-268072 chr18:268065-268072 chr18:268061-268076 chr18:268062-268075 chr18:268062-268072 chr18:268061-268074 chr18:268062-268072 chr18:268053-268073 chr18:268061-268072 chr18:268062-268073
14	ATF3	chr18:267854-268179	HepG2	liver:	n/a	chr18:268062-268075 chr18:268064-268072 chr18:268065-268072 chr18:268061-268076 chr18:268062-268075 chr18:268062-268072 chr18:268061-268074 chr18:268062-268072 chr18:268053-268073 chr18:268061-268072 chr18:268062-268073
15	BACH1	chr18:267979-268355	H1-hESC	embryonic stem cell:	n/a	n/a
16	BATF	chr18:267919-268509	GM12878	blood:	n/a	n/a
17	BCL11A	chr18:267902-268405	GM12878	blood:	n/a	chr18:268153-268162 chr18:268049-268062
18	BCL3	chr18:267839-268276	A549	lung:	n/a	chr18:268153-268162 chr18:268049-268062
19	BCL3	chr18:267793-268331	A549	lung:	n/a	chr18:268153-268162 chr18:268049-268062
20	BCL3	chr18:267887-268393	GM12878	blood:	n/a	chr18:268153-268162 chr18:268049-268062
21	BCLAF1	chr18:267804-269077	GM12878	blood:	n/a	chr18:268153-268162 chr18:268049-268062
22	BCLAF1	chr18:267773-268502	GM12878	blood:	n/a	chr18:268153-268162 chr18:268049-268062
23	BHLHE40	chr18:268183-268376	A549	lung:	n/a	n/a
24	BHLHE40	chr18:267842-268511	GM12878	blood:	n/a	chr18:268046-268062 chr18:268047-268063
25	BHLHE40	chr18:267862-268321	K562	blood:	n/a	chr18:268046-268062 chr18:268047-268063
26	BHLHE40	chr18:267852-268323	HepG2	liver:	n/a	chr18:268046-268062 chr18:268047-268063
27	BRCA1	chr18:267974-268246	H1-hESC	embryonic stem cell:	n/a	n/a
28	BRCA1	chr18:267927-268244	Hela-S3	cervix:	n/a	n/a
29	BRCA1	chr18:267916-268222	HepG2	liver:	n/a	n/a
30	CBX3	chr18:267701-268641	K562	blood:	n/a	n/a
31	CBX3	chr18:268653-269146	K562	blood:	n/a	n/a
32	CBX3	chr18:271857-272187	K562	blood:	n/a	n/a
33	CBX3	chr18:267877-268270	K562	blood:	n/a	n/a
34	CCNT2	chr18:267628-268513	K562	blood:	n/a	n/a
35	CEBPB	chr18:269678-269795	K562	blood:	n/a	n/a
36	CEBPB	chr18:267818-268289	K562	blood:	n/a	n/a
37	CEBPB	chr18:269538-269869	K562	blood:	n/a	n/a
38	CEBPB	chr18:267829-268561	GM12878	blood:	n/a	n/a
39	CEBPB	chr18:268092-268184	H1-hESC	embryonic stem cell:	n/a	n/a
40	CEBPD	chr18:267595-268288	HepG2	liver:	n/a	n/a
41	CEBPD	chr18:267772-268726	K562	blood:	n/a	n/a
42	CHD1	chr18:268180-268771	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD1	chr18:267960-268495	GM12878	blood:	n/a	chr18:268135-268145
44	CHD2	chr18:267876-268311	HepG2	liver:	n/a	chr18:268135-268145
45	CHD2	chr18:267902-268387	GM12878	blood:	n/a	chr18:268135-268145
46	CHD2	chr18:267987-268408	K562	blood:	n/a	chr18:268135-268145
47	CHD2	chr18:267938-268278	Hela-S3	cervix:	n/a	chr18:268135-268145
48	CHD2	chr18:267821-268371	H1-hESC	embryonic stem cell:	n/a	chr18:268135-268145
49	CREB1	chr18:267425-268446	HepG2	liver:	n/a	chr18:268062-268075
50	CREB1	chr18:267888-268270	A549	lung:	n/a	chr18:268062-268075

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:264576-264626	RPTEC	kidney:	n/a
2	chr18:268256-268306	GM12878	blood:	n/a
3	chr18:264576-264626	RPTEC	kidney:	n/a
4	chr18:268256-268306	GM12878	blood:	n/a
5	chr18:268278-268328	HNPCEpiC	eye:	n/a
6	chr18:264576-264626	AG09319	gingival:	n/a
7	chr18:268184-268234	HNPCEpiC	eye:	n/a
8	chr18:268278-268328	GM12892	blood:	n/a
9	chr18:267711-267761	HL-60	blood:	n/a
10	chr18:268278-268328	GM06990	blood:	n/a
11	chr18:268068-268118	AG10803	skin:	n/a
12	chr18:267711-267761	HCF	heart:	n/a
13	chr18:268278-268328	PFSK-1	brain:	n/a
14	chr18:268256-268306	HCF	heart:	n/a
15	chr18:268031-268081	Caco-2	colon:	n/a
16	chr18:268068-268118	K562	blood:	n/a
17	chr18:267637-267687	HMEC	breast:	n/a
18	chr18:268166-268216	SK-N-SH	brain:	n/a
19	chr18:271673-271723	AG04449	skin:	fetal
20	chr18:268131-268181	MCF-7	breast:	n/a
21	chr18:268601-268651	NHDF-neo	bronchial:	n/a
22	chr18:268381-268431	SAEC	small airway:	n/a
23	chr18:268256-268306	PFSK-1	brain:	n/a
24	chr18:268184-268234	HEK293	kidney:	embryo
25	chr18:268381-268431	CMK	blood:	n/a
26	chr18:268166-268216	HCPEpiC	choroid plexus:	n/a
27	chr18:267711-267761	NHBE	bronchial:	n/a
28	chr18:267637-267687	HCM	heart:	n/a
29	chr18:268256-268306	GM06990	blood:	n/a
30	chr18:268381-268431	SK-N-SH	brain:	n/a
31	chr18:268031-268081	PANC-1	pancreas:	n/a
32	chr18:268278-268328	ProgFib	skin:	n/a
33	chr18:268381-268431	ovcar-3	ovarian:	n/a
34	chr18:268381-268431	HEEpiC	esophagus:	n/a
35	chr18:268031-268081	A549	lung:	n/a
36	chr18:268256-268306	SK-N-MC	brain:	n/a
37	chr18:268031-268081	ECC-1	luminal epithelium:	n/a
38	chr18:268256-268306	AG09319	gingival:	n/a
39	chr18:267637-267687	BJ	skin:	n/a
40	chr18:268068-268118	CMK	blood:	n/a
41	chr18:267637-267687	HRE	kidney:	n/a
42	chr18:268031-268081	AoSMC	blood vessel:	n/a
43	chr18:268184-268234	HCT-116	colon:	n/a
44	chr18:271673-271723	BE2_C	brain:	n/a
45	chr18:271673-271723	MCF10A-Er-Src	breast:	n/a
46	chr18:268031-268081	GM12892	blood:	n/a
47	chr18:268068-268118	RPTEC	kidney:	n/a
48	chr18:268068-268118	HEK293	kidney:	embryo
49	chr18:268278-268328	AoSMC	blood vessel:	n/a
50	chr18:268031-268081	NH-A	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:250843..253350-chr18:266351..269442,3	MCF-7	breast:
2	chr18:254095..260758-chr18:263922..270842,11	K562	blood:
3	chr18:266563..269513-chr18:596555..599263,2	K562	blood:
4	chr18:240829..243989-chr18:256150..258223,3	K562	blood:
5	chr18:183411..185886-chr18:243582..245217,2	MCF-7	breast:
6	chr18:253259..255595-chr18:265697..268644,2	K562	blood:
7	chr18:227929..230720-chr18:265725..267925,3	K562	blood:
8	chr18:272315..274100-chr18:321177..323834,2	K562	blood:
9	chr18:274502..277151-chr18:285374..288213,2	K562	blood:
10	chr1:147806762..147807332-chr18:268331..269254,2	Hela-S3	cervix:
11	chr18:269547..271961-chr18:280130..281760,2	K562	blood:
12	chr18:240829..243989-chr18:256150..258223,3	K562	blood:
13	chr18:157295..159730-chr18:266988..268701,2	MCF-7	breast:
14	chr18:262066..265680-chr18:266517..269152,4	MCF-7	breast:
15	chr18:263619..266135-chr18:272357..275080,2	MCF-7	breast:
16	chr18:273687..277951-chr18:283700..285982,3	K562	blood:
17	chr18:273825..276341-chr18:276906..279543,2	K562	blood:
18	chr18:254095..260758-chr18:263922..270842,11	K562	blood:
19	chr18:239843..241900-chr18:243118..245785,2	K562	blood:
20	chr18:226011..228697-chr18:258254..260700,2	K562	blood:
21	chr18:245734..247470-chr18:268204..270574,2	K562	blood:
22	chr18:277729..280050-chr18:615244..618128,2	MCF-7	breast:
23	chr18:250566..253483-chr18:259670..262820,3	K562	blood:
24	chr18:250843..253350-chr18:266351..269442,3	MCF-7	breast:
25	chr18:229127..231742-chr18:269257..272237,2	K562	blood:
26	chr18:269547..271961-chr18:280130..281760,2	K562	blood:
27	chr18:248314..250346-chr18:271820..273799,2	K562	blood:
28	chr18:266113..269077-chr18:710034..713387,3	K562	blood:
29	chr18:257542..263185-chr18:266000..270349,8	MCF-7	breast:
30	chr18:273600..276346-chr18:278461..281773,3	MCF-7	breast:
31	chr18:267452..268053-chr9:134269416..134270075,2	Hela-S3	cervix:
32	chr18:264152..266955-chr18:267576..271730,4	MCF-7	breast:
33	chr18:158336..160794-chr18:268769..270393,2	K562	blood:
34	chr18:249334..252987-chr18:265974..268103,4	MCF-7	breast:
35	chr18:248314..250346-chr18:271820..273799,2	K562	blood:
36	chr18:233093..235805-chr18:238186..240596,2	MCF-7	breast:
37	chr18:245161..246691-chr18:267290..268798,2	MCF-7	breast:
38	chr18:267932..269522-chr18:657904..660311,2	K562	blood:
39	chr18:249334..252987-chr18:265974..268103,4	MCF-7	breast:
40	chr18:273244..275466-chr18:289138..290909,2	K562	blood:
41	chr18:257542..263185-chr18:266000..270349,8	MCF-7	breast:
42	chr18:250537..252163-chr18:257039..259067,2	MCF-7	breast:
43	chr18:267460..269280-chr18:657302..659143,2	MCF-7	breast:
44	chr18:248531..251029-chr18:267645..269804,2	K562	blood:
45	chr18:224129..226932-chr18:263404..265975,2	K562	blood:
46	chr18:245161..246691-chr18:267290..268798,2	MCF-7	breast:
47	chr17:58235617..58237608-chr18:268202..269943,2	MCF-7	breast:
48	chr18:269653..272578-chr18:297355..299675,2	K562	blood:
49	chr18:110119..112537-chr18:266561..268595,2	MCF-7	breast:
50	chr18:269454..272332-chr18:624341..626546,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-USP14-3	chr18:268148-270278	ENSG00000263884.1
2	lnc-USP14-6	chr18:270815-271054	NONHSAT056835
3	lnc-COLEC12-6	chr18:253324-253897	expReg_chr18_62_-

Variant related genes	Relation type
THOC1	TF binding region
ENSG00000263884	TF binding region
THOC1	CpG island
ENSG00000263884	CpG island
ENSG00000168958	chromatin interactions
ENSG00000101557	chromatin interactions
ENSG00000176890	chromatin interactions
ENSG00000132199	chromatin interactions
ENSG00000079101	chromatin interactions
ENSG00000176912	chromatin interactions
ENSG00000263006	chromatin interactions
ENSG00000202408	chromatin interactions
ENSG00000079134	chromatin interactions
ENSG00000263884	chromatin interactions
ENSG00000236432	chromatin interactions
ENSG00000130723	chromatin interactions

Extended variants
information (count: 1516 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:1516 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532309105	chr18:240074-240075	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs116017477	chr18:240098-240099	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs570027288	chr18:240158-240159	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs112406677	chr18:240166-240167	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs530968364	chr18:240228-240229	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs549097996	chr18:240252-240253	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs567995499	chr18:240273-240274	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs534988384	chr18:240327-240328	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs553217314	chr18:240399-240400	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs571528573	chr18:240423-240424	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs142045506	chr18:240436-240437	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs199878891	chr18:240448-240449	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs369857994	chr18:240451-240452	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs56980090	chr18:240491-240492	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs575242330	chr18:240506-240507	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs556337834	chr18:240507-240508	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs375237401	chr18:240511-240512	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs545785623	chr18:240552-240553	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs542656351	chr18:240558-240559	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs554273674	chr18:240612-240613	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs547590	chr18:240616-240617	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs9944598	chr18:240675-240676	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs565833410	chr18:240708-240709	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs565145248	chr18:240774-240775	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs577136782	chr18:240776-240777	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs541556409	chr18:240844-240845	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs544059168	chr18:240851-240852	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs371652238	chr18:240868-240869	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs9965064	chr18:240927-240928	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs572348700	chr18:240928-240929	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs530783333	chr18:240986-240987	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs530904943	chr18:241022-241023	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs370111331	chr18:241028-241029	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs534527530	chr18:241040-241041	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs528439953	chr18:241070-241071	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs546917290	chr18:241075-241076	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs373528320	chr18:241085-241086	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs541075794	chr18:241106-241107	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs35347115	chr18:241136-241137	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs188346985	chr18:241141-241142	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs538888422	chr18:241147-241148	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs550594063	chr18:241148-241149	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs550893720	chr18:241167-241168	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs200831174	chr18:241177-241178	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs377397007	chr18:241196-241197	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs554803657	chr18:241220-241221	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs569389776	chr18:241268-241269	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs1893155	chr18:241347-241348	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs554611899	chr18:241385-241386	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs572895466	chr18:241409-241410	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Esophageal cancer	21851588	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Breast cancer	17899364	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	CNVD
Gastrointestinal cancer	17018589	CNVD
prenatal diagnosis	20453657	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Renal cell carcinoma	18765545	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	18172304	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Melanoma	17363583	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21785460	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	20808228	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
Cancer	20164919	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Autism	21865298	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

Chromatin state (count:1383 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:199800-251000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr18:212000-256400	Weak transcription	Gastric	stomach
3	chr18:214400-251600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr18:214400-252000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr18:215800-244000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr18:217200-247000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr18:218000-267400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr18:218200-245400	Weak transcription	Aorta	Aorta
9	chr18:218400-245600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr18:218600-240800	Weak transcription	Spleen	Spleen
11	chr18:218600-244800	Weak transcription	Psoas Muscle	Psoas
12	chr18:218600-245200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr18:218600-245400	Weak transcription	Esophagus	oesophagus
14	chr18:218600-245600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr18:218600-245600	Weak transcription	Brain Angular Gyrus	brain
16	chr18:218600-248200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr18:218600-250400	Weak transcription	Colonic Mucosa	Colon
18	chr18:218600-261400	Weak transcription	Pancreas	Pancrea
19	chr18:218600-267200	Weak transcription	Stomach Mucosa	stomach
20	chr18:218800-241000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr18:218800-241400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr18:219000-245400	Weak transcription	Small Intestine	intestine
23	chr18:219000-247200	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr18:219000-251400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr18:219000-251600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr18:219000-267200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr18:219000-267200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr18:219800-240400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr18:220400-244400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr18:224000-244400	Weak transcription	Fetal Brain Male	brain
31	chr18:224000-248000	Weak transcription	NHLF	lung
32	chr18:224200-244400	Weak transcription	Colon Smooth Muscle	Colon
33	chr18:224200-250600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr18:224800-245200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr18:225000-244400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr18:225000-244600	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr18:225000-250800	Weak transcription	HSMMtube	muscle
38	chr18:225200-254600	Weak transcription	Right Ventricle	heart
39	chr18:225400-245200	Weak transcription	Brain Substantia Nigra	brain
40	chr18:225600-240200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr18:225600-240400	Weak transcription	Hela-S3	cervix
42	chr18:225600-245400	Weak transcription	Brain Cingulate Gyrus	brain
43	chr18:225600-251200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr18:225800-246400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr18:225800-250400	Weak transcription	Brain Hippocampus Middle	brain
46	chr18:226400-241600	Weak transcription	Fetal Thymus	thymus
47	chr18:226400-251200	Weak transcription	NHEK	skin
48	chr18:226600-241600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr18:226600-241800	Weak transcription	HUVEC	blood vessel
50	chr18:226600-242800	Weak transcription	Rectal Smooth Muscle	rectum

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