Variant report

Variant	nsv482910
Chromosome Location	chr18:161390-305010
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	chr18:286488-286736	HepG2	liver:	n/a	n/a
2	ARID3A	chr18:189173-189528	HepG2	liver:	n/a	n/a
3	ARID3A	chr18:199881-200096	HepG2	liver:	n/a	n/a
4	ARID3A	chr18:269422-269886	HepG2	liver:	n/a	n/a
5	ARID3A	chr18:267953-268346	HepG2	liver:	n/a	n/a
6	ARID3A	chr18:268051-268209	K562	blood:	n/a	n/a
7	ATF1	chr18:267856-268252	K562	blood:	n/a	n/a
8	ATF2	chr18:267806-268299	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF2	chr18:267857-268299	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF2	chr18:267677-268450	GM12878	blood:	n/a	n/a
11	ATF2	chr18:267573-268458	GM12878	blood:	n/a	n/a
12	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
13	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
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	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
16	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
17	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
18	BACH1	chr18:267979-268355	H1-hESC	embryonic stem cell:	n/a	n/a
19	BATF	chr18:267919-268509	GM12878	blood:	n/a	n/a
20	BCL11A	chr18:219072-219489	GM12878	blood:	n/a	n/a
21	BCL11A	chr18:267902-268405	GM12878	blood:	n/a	chr18:268153-268162 chr18:268049-268062
22	BCL3	chr18:267793-268331	A549	lung:	n/a	chr18:268153-268162 chr18:268049-268062
23	BCL3	chr18:217619-218231	K562	blood:	n/a	n/a
24	BCL3	chr18:267887-268393	GM12878	blood:	n/a	chr18:268153-268162 chr18:268049-268062
25	BCL3	chr18:267839-268276	A549	lung:	n/a	chr18:268153-268162 chr18:268049-268062
26	BCLAF1	chr18:267804-269077	GM12878	blood:	n/a	chr18:268153-268162 chr18:268049-268062
27	BCLAF1	chr18:267773-268502	GM12878	blood:	n/a	chr18:268153-268162 chr18:268049-268062
28	BHLHE40	chr18:267852-268323	HepG2	liver:	n/a	chr18:268046-268062 chr18:268047-268063
29	BHLHE40	chr18:267862-268321	K562	blood:	n/a	chr18:268046-268062 chr18:268047-268063
30	BHLHE40	chr18:268183-268376	A549	lung:	n/a	n/a
31	BHLHE40	chr18:302234-302299	K562	blood:	n/a	n/a
32	BHLHE40	chr18:267842-268511	GM12878	blood:	n/a	chr18:268046-268062 chr18:268047-268063
33	BRCA1	chr18:267974-268246	H1-hESC	embryonic stem cell:	n/a	n/a
34	BRCA1	chr18:267927-268244	Hela-S3	cervix:	n/a	n/a
35	BRCA1	chr18:267916-268222	HepG2	liver:	n/a	n/a
36	CBX3	chr18:267701-268641	K562	blood:	n/a	n/a
37	CBX3	chr18:271857-272187	K562	blood:	n/a	n/a
38	CBX3	chr18:267877-268270	K562	blood:	n/a	n/a
39	CBX3	chr18:268653-269146	K562	blood:	n/a	n/a
40	CCNT2	chr18:267628-268513	K562	blood:	n/a	n/a
41	CEBPB	chr18:227537-227565	HepG2	liver:	n/a	chr18:227540-227551 chr18:227540-227553
42	CEBPB	chr18:212894-213037	HepG2	liver:	n/a	chr18:212950-212961
43	CEBPB	chr18:269538-269869	K562	blood:	n/a	n/a
44	CEBPB	chr18:212745-213108	MCF-7	breast:	n/a	chr18:212950-212961
45	CEBPB	chr18:267818-268289	K562	blood:	n/a	n/a
46	CEBPB	chr18:212939-213007	Hela-S3	cervix:	n/a	chr18:212950-212961
47	CEBPB	chr18:269678-269795	K562	blood:	n/a	n/a
48	CEBPB	chr18:212854-213068	H1-hESC	embryonic stem cell:	n/a	chr18:212950-212961
49	CEBPB	chr18:212882-213012	A549	lung:	n/a	chr18:212950-212961
50	CEBPB	chr18:212779-213059	MCF-7	breast:	n/a	chr18:212950-212961

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:268256-268306	HCF	heart:	n/a
2	chr18:268256-268306	HCF	heart:	n/a
3	chr18:268601-268651	HMEC	breast:	n/a
4	chr18:264576-264626	HNPCEpiC	eye:	n/a
5	chr18:165402-165452	NHBE	bronchial:	n/a
6	chr18:264576-264626	PrEC	prostate:	n/a
7	chr18:268278-268328	HIPEpiC	eye:	n/a
8	chr18:165402-165452	ProgFib	skin:	n/a
9	chr18:264576-264626	AoSMC	blood vessel:	n/a
10	chr18:268381-268431	GM12891	blood:	n/a
11	chr18:165402-165452	NH-A	brain:	n/a
12	chr18:165402-165452	HCM	heart:	n/a
13	chr18:163067-163117	NB4	blood:	n/a
14	chr18:268031-268081	Hela-S3	cervix:	n/a
15	chr18:268166-268216	ProgFib	skin:	n/a
16	chr18:165402-165452	HCPEpiC	choroid plexus:	n/a
17	chr18:165402-165452	ovcar-3	ovarian:	n/a
18	chr18:268135-268185	A549	lung:	n/a
19	chr18:268031-268081	MCF-7	breast:	n/a
20	chr18:268184-268234	HUVEC	blood vessel:	n/a
21	chr18:268381-268431	GM19239	blood:	n/a
22	chr18:268278-268328	U87	brain:	n/a
23	chr18:268256-268306	MCF10A-Er-Src	breast:	n/a
24	chr18:268135-268185	HRPEpiC	eye:	n/a
25	chr18:268256-268306	HCT-116	colon:	n/a
26	chr18:268166-268216	NT2-D1	testis:	n/a
27	chr18:268135-268185	AG09309	skin:	n/a
28	chr18:271673-271723	HMEC	breast:	n/a
29	chr18:264576-264626	NHBE	bronchial:	n/a
30	chr18:163067-163117	ECC-1	luminal epithelium:	n/a
31	chr18:267711-267761	SKMC	muscle:	n/a
32	chr18:268278-268328	NH-A	brain:	n/a
33	chr18:271673-271723	ovcar-3	ovarian:	n/a
34	chr18:268278-268328	AG10803	skin:	n/a
35	chr18:268278-268328	NHDF-neo	bronchial:	n/a
36	chr18:267711-267761	HEK293	kidney:	embryo
37	chr18:271673-271723	U87	brain:	n/a
38	chr18:213653-213703	MCF10A-Er-Src	breast:	n/a
39	chr18:163067-163117	Jurkat	blood:	n/a
40	chr18:268381-268431	LNCaP	prostate:	n/a
41	chr18:213653-213703	PFSK-1	brain:	n/a
42	chr18:267711-267761	AG09309	skin:	n/a
43	chr18:267637-267687	ProgFib	skin:	n/a
44	chr18:264576-264626	GM19239	blood:	n/a
45	chr18:165402-165452	PANC-1	pancreas:	n/a
46	chr18:264576-264626	MCF10A-Er-Src	breast:	n/a
47	chr18:267637-267687	HNPCEpiC	eye:	n/a
48	chr18:268601-268651	K562	blood:	n/a
49	chr18:213653-213703	HAEpiC	amniotic membrane:	n/a
50	chr18:267711-267761	BJ	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:215700..218023-chr18:223770..226749,2	K562	blood:
2	chr18:218670..220555-chr18:223382..226341,3	K562	blood:
3	chr18:224129..226932-chr18:263404..265975,2	K562	blood:
4	chr18:164894..167848-chr18:172518..174416,3	K562	blood:
5	chr18:158226..159980-chr18:161322..163085,2	MCF-7	breast:
6	chr18:185477..188373-chr18:192212..194752,2	K562	blood:
7	chr18:262066..265680-chr18:266517..269152,4	MCF-7	breast:
8	chr18:254095..260758-chr18:263922..270842,11	K562	blood:
9	chr18:173629..175507-chr18:185992..188221,2	MCF-7	breast:
10	chr18:180232..183559-chr18:185783..188549,3	K562	blood:
11	chr18:267452..268053-chr9:134269416..134270075,2	Hela-S3	cervix:
12	chr18:292167..293133-chr18:616102..616665,2	MCF-7	breast:
13	chr18:204844..208179-chr18:208509..211348,3	K562	blood:
14	chr18:302419..306527-chr18:308522..311824,4	K562	blood:
15	chr18:250566..253483-chr18:259670..262820,3	K562	blood:
16	chr18:181273..184246-chr18:226060..228939,2	K562	blood:
17	chr18:294145..296995-chr18:298267..301076,2	K562	blood:
18	chr18:292316..292911-chr18:477341..478167,2	MCF-7	breast:
19	chr18:250843..253350-chr18:266351..269442,3	MCF-7	breast:
20	chr18:211515..213254-chr18:241268..242902,2	K562	blood:
21	chr18:267460..269280-chr18:657302..659143,2	MCF-7	breast:
22	chr18:227929..230720-chr18:265725..267925,3	K562	blood:
23	chr18:157295..159730-chr18:266988..268701,2	MCF-7	breast:
24	chr18:273825..276341-chr18:276906..279543,2	K562	blood:
25	chr18:211515..213254-chr18:241268..242902,2	K562	blood:
26	chr18:226011..228697-chr18:258254..260700,2	K562	blood:
27	chr18:231648..233697-chr18:238465..240469,2	K562	blood:
28	chr18:158336..160794-chr18:268769..270393,2	K562	blood:
29	chr18:249334..252987-chr18:265974..268103,4	MCF-7	breast:
30	chr18:229127..231742-chr18:269257..272237,2	K562	blood:
31	chr18:263619..266135-chr18:272357..275080,2	MCF-7	breast:
32	chr18:248531..251029-chr18:267645..269804,2	K562	blood:
33	chr18:286089..286649-chr18:19535847..19536611,2	K562	blood:
34	chr18:228215..230385-chr18:232509..234575,2	K562	blood:
35	chr18:222084..224693-chr18:231367..235268,3	K562	blood:
36	chr18:181284..183295-chr18:192261..194255,2	K562	blood:
37	chr18:183411..185886-chr18:243582..245217,2	MCF-7	breast:
38	chr18:210003..212039-chr18:215583..218232,2	K562	blood:
39	chr18:273600..276346-chr18:278461..281773,3	MCF-7	breast:
40	chr18:269653..272578-chr18:297355..299675,2	K562	blood:
41	chr18:208647..210877-chr18:212851..214807,2	MCF-7	breast:
42	chr18:204844..208399-chr18:208509..211522,4	K562	blood:
43	chr18:245734..247470-chr18:268204..270574,2	K562	blood:
44	chr18:286401..287237-chr18:477304..478254,5	MCF-7	breast:
45	chr18:175956..178936-chr18:178964..180560,2	K562	blood:
46	chr18:294145..296995-chr18:298267..301076,2	K562	blood:
47	chr18:286140..286815-chr18:616539..617291,2	MCF-7	breast:
48	chr18:225092..228063-chr18:231717..233531,3	K562	blood:
49	chr18:181732..184561-chr18:191775..193318,2	K562	blood:
50	chr18:248724..251192-chr18:298155..299664,2	K562	blood:

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	THOC1	hsa-miR-186-5p	chr18:214607-214625
2	USP14	hsa-miR-204-5p	chr18:212024-212043
3	THOC1	hsa-miR-186-5p	chr18:225149-225174
4	USP14	hsa-miR-204-5p	chr18:213710-213731

Variant related genes	Relation type
THOC1	TF binding region
ENSG00000263884	TF binding region
USP14	TF binding region
THOC1	CpG island
ENSG00000263884	CpG island
USP14	CpG island
ENSG00000101557	chromatin interactions
ENSG00000236432	chromatin interactions
ENSG00000079134	chromatin interactions
ENSG00000079101	chromatin interactions
ENSG00000168958	chromatin interactions
ENSG00000176912	chromatin interactions
ENSG00000263006	chromatin interactions
ENSG00000263884	chromatin interactions
ENSG00000130723	chromatin interactions
ENSG00000132199	chromatin interactions
ENSG00000202408	chromatin interactions
ENSG00000176890	chromatin interactions

Extended variants
information (count: 5195 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:5195 , 50 per page) page: 1 2 3 4 5 6 7 ... 104

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567229726	chr18:161424-161425	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs192768053	chr18:161453-161454	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs553021970	chr18:161520-161521	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs369684930	chr18:161548-161549	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs570055248	chr18:161560-161561	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs544016883	chr18:161573-161574	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs577686855	chr18:161597-161598	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs545341640	chr18:161605-161606	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs373310210	chr18:161624-161625	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs557255230	chr18:161627-161628	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs575426453	chr18:161652-161653	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs184799224	chr18:161654-161655	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs562252626	chr18:161671-161672	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs537099518	chr18:161728-161729	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs529379667	chr18:161799-161800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs536861512	chr18:161834-161835	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs187764255	chr18:161852-161853	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs547256591	chr18:161854-161855	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs117052953	chr18:161909-161910	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs2027675	chr18:161922-161923	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs570230640	chr18:161927-161928	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs531181374	chr18:162031-162032	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs523239	chr18:162039-162040	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs567805698	chr18:162044-162045	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs546374260	chr18:162047-162048	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs192683440	chr18:162049-162050	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs141924448	chr18:162082-162083	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs114124773	chr18:162092-162093	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs538620303	chr18:162165-162166	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs35515450	chr18:162172-162173	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs557272402	chr18:162175-162176	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs575442081	chr18:162200-162201	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs377614300	chr18:162206-162207	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs1784375	chr18:162214-162215	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs573542243	chr18:162290-162291	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs554471848	chr18:162311-162312	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs201404886	chr18:162353-162354	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs572966011	chr18:162376-162377	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs541143000	chr18:162398-162399	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs375503360	chr18:162403-162404	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs559406278	chr18:162418-162419	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs577643087	chr18:162428-162429	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs577106236	chr18:162439-162440	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs150697196	chr18:162443-162444	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs183631698	chr18:162452-162453	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs531118264	chr18:162463-162464	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs189476389	chr18:162481-162482	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs561343477	chr18:162500-162501	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs528660380	chr18:162564-162565	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs542492530	chr18:162601-162602	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Pancreatic cancer	17952125	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
Non-syndromic sensorineural hearing loss	21293372	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Developmental delay	21147756	CNVD
Non-syndromic sensorineural hearing loss	22037309	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:3467 , 50 per page) page: 1 2 3 4 5 6 7 ... 70

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:159400-186000	Weak transcription	Aorta	Aorta
2	chr18:159600-161400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
3	chr18:159600-161600	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr18:159600-165000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr18:159600-166800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr18:159600-168400	Weak transcription	Lung	lung
7	chr18:159600-169800	Weak transcription	Esophagus	oesophagus
8	chr18:159600-170600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr18:159600-199000	Weak transcription	Colonic Mucosa	Colon
10	chr18:159800-161400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr18:159800-161400	Enhancers	Adipose Nuclei	Adipose
12	chr18:159800-161400	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr18:159800-161400	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr18:159800-161400	Enhancers	Fetal Brain Male	brain
15	chr18:159800-161600	Enhancers	Brain Cingulate Gyrus	brain
16	chr18:159800-162200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr18:159800-162200	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr18:159800-163200	Weak transcription	HSMMtube	muscle
19	chr18:159800-163800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr18:159800-163800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr18:159800-164400	Weak transcription	Fetal Intestine Large	intestine
22	chr18:159800-164600	Weak transcription	Fetal Kidney	kidney
23	chr18:159800-165400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr18:159800-191400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr18:159800-199200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr18:160000-161400	Enhancers	Liver	Liver
27	chr18:160000-162200	Enhancers	HUVEC	blood vessel
28	chr18:160000-163000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr18:160000-163000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr18:160000-163000	Weak transcription	NH-A	brain
31	chr18:160000-163200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr18:160000-164400	Weak transcription	Fetal Intestine Small	intestine
33	chr18:160000-165400	Weak transcription	Colon Smooth Muscle	Colon
34	chr18:160000-168400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr18:160000-203000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr18:160200-162200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr18:160200-163200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr18:160200-163200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr18:160200-163200	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr18:160200-163200	Weak transcription	HSMM	muscle
41	chr18:160200-163200	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr18:160200-163200	Weak transcription	NHLF	lung
43	chr18:160200-163400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr18:160200-169000	Weak transcription	Right Ventricle	heart
45	chr18:160200-180400	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr18:160200-210800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr18:160200-218000	Weak transcription	Stomach Mucosa	stomach
48	chr18:160200-218400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr18:160400-161600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr18:160400-161600	Enhancers	Hela-S3	cervix

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