Variant report

Variant	esv3319147
Chromosome Location	chr19:42082742-42212770
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2343)
CpG islands
(count:1160)
Chromatin interactive
region (count:61)
LncRNA
region (count:21)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2343 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:42103941-42104349	K562	blood:	n/a	n/a
2	ARID3A	chr19:42148361-42148615	HepG2	liver:	n/a	n/a
3	ARID3A	chr19:42195384-42195550	HepG2	liver:	n/a	n/a
4	ATF3	chr19:42210716-42211031	K562	blood:	n/a	n/a
5	ATF3	chr19:42210396-42211270	A549	lung:	n/a	n/a
6	BCL3	chr19:42205893-42206698	A549	lung:	n/a	chr19:42205950-42205959
7	BCL3	chr19:42210325-42211072	A549	lung:	n/a	n/a
8	BCL3	chr19:42205755-42206672	A549	lung:	n/a	chr19:42205950-42205959
9	BCL3	chr19:42195097-42195928	A549	lung:	n/a	n/a
10	BHLHE40	chr19:42148329-42148592	GM12878	blood:	n/a	n/a
11	BHLHE40	chr19:42104075-42104211	K562	blood:	n/a	n/a
12	BHLHE40	chr19:42210843-42211130	K562	blood:	n/a	n/a
13	BRCA1	chr19:42175497-42175768	Hela-S3	cervix:	n/a	n/a
14	CBX3	chr19:42088705-42088947	K562	blood:	n/a	n/a
15	CBX3	chr19:42087500-42087699	K562	blood:	n/a	n/a
16	CBX3	chr19:42170024-42170506	HCT-116	colon:	n/a	n/a
17	CBX3	chr19:42210620-42211131	K562	blood:	n/a	n/a
18	CBX3	chr19:42170041-42170347	K562	blood:	n/a	n/a
19	CBX3	chr19:42170019-42170400	K562	blood:	n/a	n/a
20	CBX3	chr19:42170022-42170413	HCT-116	colon:	n/a	n/a
21	CBX3	chr19:42089010-42089278	K562	blood:	n/a	n/a
22	CBX3	chr19:42150591-42150800	K562	blood:	n/a	n/a
23	CCNT2	chr19:42210774-42211033	K562	blood:	n/a	n/a
24	CEBPB	chr19:42123191-42123505	IMR90	lung:	n/a	n/a
25	CEBPB	chr19:42103964-42104235	K562	blood:	n/a	n/a
26	CEBPB	chr19:42118846-42119235	Hela-S3	cervix:	n/a	chr19:42119020-42119031 chr19:42119021-42119030 chr19:42119019-42119032 chr19:42119019-42119030
27	CEBPB	chr19:42118854-42119215	HepG2	liver:	n/a	chr19:42119020-42119031 chr19:42119021-42119030 chr19:42119019-42119032 chr19:42119019-42119030
28	CEBPB	chr19:42185694-42185965	IMR90	lung:	n/a	chr19:42185842-42185853
29	CEBPB	chr19:42123244-42123427	K562	blood:	n/a	n/a
30	CEBPB	chr19:42210499-42210766	A549	lung:	n/a	chr19:42210571-42210582
31	CEBPB	chr19:42171759-42172077	IMR90	lung:	n/a	chr19:42171916-42171927
32	CEBPB	chr19:42150425-42150804	A549	lung:	n/a	chr19:42150628-42150641 chr19:42150630-42150641 chr19:42150630-42150641
33	CEBPB	chr19:42090185-42090207	K562	blood:	n/a	n/a
34	CEBPB	chr19:42110437-42110713	HepG2	liver:	n/a	chr19:42110585-42110596
35	CEBPB	chr19:42110484-42110652	IMR90	lung:	n/a	chr19:42110585-42110596
36	CEBPB	chr19:42103945-42104257	A549	lung:	n/a	n/a
37	CEBPB	chr19:42205863-42206694	A549	lung:	n/a	n/a
38	CEBPB	chr19:42185708-42185997	HepG2	liver:	n/a	chr19:42185842-42185853
39	CEBPB	chr19:42090040-42090299	IMR90	lung:	n/a	chr19:42090204-42090215
40	CEBPB	chr19:42171829-42172082	HepG2	liver:	n/a	chr19:42171916-42171927
41	CEBPB	chr19:42118851-42119181	K562	blood:	n/a	chr19:42119020-42119031 chr19:42119021-42119030 chr19:42119019-42119032 chr19:42119019-42119030
42	CEBPB	chr19:42178135-42178449	A549	lung:	n/a	chr19:42178305-42178316
43	CEBPB	chr19:42150556-42150769	K562	blood:	n/a	chr19:42150628-42150641 chr19:42150630-42150641 chr19:42150630-42150641
44	CEBPB	chr19:42083432-42083775	HepG2	liver:	n/a	chr19:42083597-42083608
45	CEBPB	chr19:42110476-42110735	A549	lung:	n/a	chr19:42110585-42110596
46	CEBPB	chr19:42185750-42186044	K562	blood:	n/a	chr19:42185842-42185853
47	CEBPB	chr19:42103946-42104265	Hela-S3	cervix:	n/a	n/a
48	CEBPB	chr19:42171770-42172084	A549	lung:	n/a	chr19:42171916-42171927
49	CEBPB	chr19:42148206-42148538	A549	lung:	n/a	n/a
50	CEBPB	chr19:42090057-42090363	A549	lung:	n/a	chr19:42090204-42090215

(count:1160 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:42211479-42211529	GM12891	blood:	n/a
2	chr19:42211479-42211529	GM12891	blood:	n/a
3	chr19:42189514-42189564	ECC-1	luminal epithelium:	n/a
4	chr19:42133416-42133466	HMEC	breast:	n/a
5	chr19:42211171-42211221	Jurkat	blood:	n/a
6	chr19:42083748-42083798	HEK293	kidney:	embryo
7	chr19:42192976-42193026	ProgFib	skin:	n/a
8	chr19:42191563-42191613	H1-hESC	embryonic stem cell:	embryo
9	chr19:42133416-42133466	HUVEC	blood vessel:	n/a
10	chr19:42212501-42212551	HL-60	blood:	n/a
11	chr19:42193084-42193134	HRCEpiC	kidney:	n/a
12	chr19:42133416-42133466	AG09309	skin:	n/a
13	chr19:42134128-42134178	SK-N-MC	brain:	n/a
14	chr19:42083748-42083798	T-47D	breast:	n/a
15	chr19:42189514-42189564	HRPEpiC	eye:	n/a
16	chr19:42134128-42134178	AoSMC	blood vessel:	n/a
17	chr19:42125367-42125417	IMR90	lung:	fetal
18	chr19:42211252-42211302	AG04449	skin:	fetal
19	chr19:42193084-42193134	SKMC	muscle:	n/a
20	chr19:42134620-42134670	NT2-D1	testis:	n/a
21	chr19:42191563-42191613	T-47D	breast:	n/a
22	chr19:42212594-42212644	NH-A	brain:	n/a
23	chr19:42211252-42211302	AG04450	lung:	fetal
24	chr19:42133492-42133542	GM12891	blood:	n/a
25	chr19:42211160-42211210	BE2_C	brain:	n/a
26	chr19:42189514-42189564	HCF	heart:	n/a
27	chr19:42134620-42134670	HCF	heart:	n/a
28	chr19:42133492-42133542	HRCEpiC	kidney:	n/a
29	chr19:42211160-42211210	ovcar-3	ovarian:	n/a
30	chr19:42211171-42211221	HEK293	kidney:	embryo
31	chr19:42192976-42193026	SKMC	muscle:	n/a
32	chr19:42191563-42191613	MCF-7	breast:	n/a
33	chr19:42211479-42211529	HRPEpiC	eye:	n/a
34	chr19:42191563-42191613	NT2-D1	testis:	n/a
35	chr19:42211171-42211221	NHBE	bronchial:	n/a
36	chr19:42133416-42133466	HCF	heart:	n/a
37	chr19:42133416-42133466	BE2_C	brain:	n/a
38	chr19:42125367-42125417	SK-N-MC	brain:	n/a
39	chr19:42125367-42125417	MCF10A-Er-Src	breast:	n/a
40	chr19:42134128-42134178	SAEC	small airway:	n/a
41	chr19:42211479-42211529	HCPEpiC	choroid plexus:	n/a
42	chr19:42133492-42133542	Caco-2	colon:	n/a
43	chr19:42125367-42125417	HepG2	liver:	n/a
44	chr19:42189514-42189564	HAEpiC	amniotic membrane:	n/a
45	chr19:42134620-42134670	HL-60	blood:	n/a
46	chr19:42211160-42211210	GM12891	blood:	n/a
47	chr19:42189514-42189564	GM19239	blood:	n/a
48	chr19:42093086-42093136	IMR90	lung:	fetal
49	chr19:42211160-42211210	ECC-1	luminal epithelium:	n/a
50	chr19:42125367-42125417	BE2_C	brain:	n/a

(count:61 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr19:42201439..42203685-chr19:42204589..42206522,2	MCF-7	breast:
2	chr19:42199149..42200978-chr19:42202401..42204371,2	K562	blood:
3	chr19:42199364..42201968-chr19:42204770..42207753,2	K562	blood:
4	chr19:42194707..42197200-chr19:42201363..42204085,2	MCF-7	breast:
5	chr19:42206272..42207887-chr19:42208137..42210800,2	K562	blood:
6	chr19:42190379..42192601-chr19:42208251..42211218,2	K562	blood:
7	chr19:42090966..42093146-chr19:42106951..42108907,2	MCF-7	breast:
8	chr19:42185627..42187160-chr19:42190673..42192636,2	K562	blood:
9	chr19:42103041..42104870-chr19:42110509..42112697,2	K562	blood:
10	chr19:42078682..42081058-chr19:42082951..42085705,2	MCF-7	breast:
11	chr19:42211076..42212814-chr19:42288522..42291440,2	MCF-7	breast:
12	chr19:42170762..42173510-chr19:42176907..42179632,2	K562	blood:
13	chr19:42201688..42202322-chr19:42210240..42210766,2	K562	blood:
14	chr19:41832909..41835024-chr19:42101795..42103812,2	MCF-7	breast:
15	chr19:42148024..42148877-chr19:42195016..42195762,2	K562	blood:
16	chr19:42147580..42148927-chr19:42194859..42196377,8	MCF-7	breast:
17	chr19:42204838..42207532-chr19:42209650..42212423,2	MCF-7	breast:
18	chr19:42128745..42130555-chr19:42132891..42134764,2	MCF-7	breast:
19	chr19:42116399..42118234-chr19:42119238..42121472,2	K562	blood:
20	chr19:41954968..41955934-chr19:42101318..42102296,4	MCF-7	breast:
21	chr19:42199364..42201968-chr19:42204770..42207753,2	K562	blood:
22	chr19:42168589..42171356-chr19:42173176..42175470,2	MCF-7	breast:
23	chr19:42192804..42194422-chr19:42196991..42198512,2	K562	blood:
24	chr19:42175293..42177532-chr19:42178658..42181248,2	K562	blood:
25	chr19:42124874..42127284-chr19:42129933..42131883,2	K562	blood:
26	chr19:42194707..42197200-chr19:42201363..42204085,2	MCF-7	breast:
27	chr19:42147220..42149633-chr19:42250736..42252324,3	MCF-7	breast:
28	chr19:42077943..42079577-chr19:42084170..42086427,2	K562	blood:
29	chr19:42168589..42171356-chr19:42173176..42175470,2	MCF-7	breast:
30	chr19:42187020..42188703-chr19:42193918..42196262,2	K562	blood:
31	chr19:42148303..42148992-chr19:42250108..42251260,4	K562	blood:
32	chr19:42201688..42202322-chr19:42210240..42210766,2	K562	blood:
33	chr19:42147995..42149203-chr19:42195085..42195974,8	MCF-7	breast:
34	chr19:42118056..42120670-chr19:42122238..42124677,3	K562	blood:
35	chr19:42147995..42149203-chr19:42195085..42195974,8	MCF-7	breast:
36	chr19:42124874..42127284-chr19:42129933..42131883,2	K562	blood:
37	chr19:42201439..42203685-chr19:42204589..42206522,2	MCF-7	breast:
38	chr19:42192804..42194422-chr19:42196991..42198512,2	K562	blood:
39	chr19:42199149..42200978-chr19:42202401..42204371,2	K562	blood:
40	chr19:42195068..42195942-chr19:42210669..42211245,2	MCF-7	breast:
41	chr19:42211491..42212027-chr19:42250292..42251139,2	K562	blood:
42	chr12:69104029..69104938-chr19:42147801..42148493,2	MCF-7	breast:
43	chr19:41933534..41935688-chr19:42105256..42107275,2	K562	blood:
44	chr19:42147964..42148906-chr19:42250000..42251190,4	MCF-7	breast:
45	chr19:42185660..42188707-chr19:42191136..42193889,3	K562	blood:
46	chr19:42118056..42120670-chr19:42122238..42124677,3	K562	blood:
47	chr19:42209137..42209823-chr19:42250235..42251244,3	MCF-7	breast:
48	chr19:42148024..42148877-chr19:42195016..42195762,2	K562	blood:
49	chr19:42116399..42118234-chr19:42119238..42121472,2	K562	blood:
50	chr19:42122210..42124944-chr19:42127760..42129362,2	K562	blood:

(count:21 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CEACAM21-4	chr19:42111318-42111576	NONHSAT066475
2	lnc-CEACAM21-1	chr19:42092817-42093197	NR_110107
3	lnc-CEACAM4-1	chr19:42131941-42132334	NONHSAT066478
4	lnc-CEACAM21-1	chr19:42090703-42090796	NR_110107
5	lnc-CEACAM4-2	chr19:42144937-42145267	NONHSAT066479
6	lnc-CEACAM6-1	chr19:42212540-42212714	NONHSAT066483
7	lnc-CEACAM21-4	chr19:42107567-42107882	NONHSAT066475
8	lnc-CEACAM4-3	chr19:42146027-42146227	NONHSAT066480
9	lnc-CEACAM21-4	chr19:42110519-42110612	NONHSAT066476
10	lnc-CEACAM4-4	chr19:42111897-42112026	NONHSAT066477
11	lnc-CEACAM21-4	chr19:42108598-42108907	NONHSAT066476
12	lnc-CEACAM21-1	chr19:42091796-42091848	NR_110107
13	lnc-CEACAM21-4	chr19:42106090-42106152	NONHSAT066475
14	lnc-CEACAM21-1	chr19:42085623-42085981	NR_110107
15	lnc-CEACAM5-1	chr19:42156601-42156888	NONHSAT066481
16	lnc-CEACAM4-3	chr19:42146917-42146970	NONHSAT066480
17	lnc-CEACAM4-4	chr19:42111696-42111867	NONHSAT066477
18	lnc-CEACAM4-1	chr19:42133268-42133442	NONHSAT066478
19	lnc-CEACAM21-1	chr19:42092193-42092224	NR_110107
20	lnc-CEACAM21-4	chr19:42111196-42112339	NONHSAT066476
21	lnc-CEACAM21-1	chr19:42083552-42083911	NR_110107

No data

Variant related genes	Relation type
CEACAMP3	TF binding region
ENSG00000268582	TF binding region
CEACAM4	TF binding region
DNAJC19P2	TF binding region
CEACAM5	TF binding region
CEACAM7	TF binding region
DNAJC19P3	TF binding region
ENSG00000267881	TF binding region
ENSG00000269354	TF binding region
CEACAMP3	CpG island
ENSG00000268582	CpG island
CEACAM4	CpG island
DNAJC19P2	CpG island
CEACAM5	CpG island
CEACAM7	CpG island
DNAJC19P3	CpG island
ENSG00000267881	CpG island
ENSG00000269354	CpG island
ENSG00000239736	chromatin interactions
ENSG00000177191	chromatin interactions
ENSG00000007306	chromatin interactions
ENSG00000268833	chromatin interactions
ENSG00000105352	chromatin interactions
ENSG00000268582	chromatin interactions
ENSG00000269266	chromatin interactions

Extended variants
information (count: 4567 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:4567 , 50 per page) page: 1 2 3 4 5 6 7 ... 92

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576873064	chr19:42082742-42082743	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs534610630	chr19:42082747-42082748	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs554395278	chr19:42082751-42082752	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs572643462	chr19:42082762-42082763	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs547080026	chr19:42082777-42082778	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs116010471	chr19:42082815-42082816	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs189654771	chr19:42082858-42082859	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs145016580	chr19:42082881-42082882	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs543479353	chr19:42082966-42082967	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs565050902	chr19:42082989-42082990	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs536287212	chr19:42082995-42082996	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs554537717	chr19:42083009-42083010	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs181497960	chr19:42083040-42083041	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs36035116	chr19:42083047-42083048	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs541064550	chr19:42083050-42083051	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs559740205	chr19:42083051-42083052	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs374318418	chr19:42083058-42083059	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs548491052	chr19:42083065-42083066	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs377719916	chr19:42083119-42083120	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs569837664	chr19:42083134-42083135	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs117416787	chr19:42083152-42083153	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs536252024	chr19:42083196-42083197	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs570563097	chr19:42083198-42083199	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs184732556	chr19:42083236-42083237	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552682438	chr19:42083274-42083275	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568080152	chr19:42083306-42083307	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs77705252	chr19:42083325-42083326	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs558976939	chr19:42083356-42083357	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs147965974	chr19:42083382-42083383	Weak transcription Enhancers Flanking Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs149001189	chr19:42083414-42083415	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs543614229	chr19:42083418-42083419	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs558772986	chr19:42083432-42083433	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs148980547	chr19:42083433-42083434	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs576917454	chr19:42083450-42083451	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs188435741	chr19:42083484-42083485	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs143775364	chr19:42083495-42083496	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs530128209	chr19:42083528-42083529	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs75057543	chr19:42083535-42083536	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs75807723	chr19:42083539-42083540	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs199801483	chr19:42083552-42083553	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
41	rs34196305	chr19:42083554-42083555	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
42	rs567084634	chr19:42083557-42083558	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
43	rs200674532	chr19:42083567-42083568	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
44	rs148130632	chr19:42083571-42083572	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
45	rs545179785	chr19:42083574-42083575	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
46	rs535449616	chr19:42083578-42083579	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
47	rs372228462	chr19:42083601-42083602	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs200535080	chr19:42083626-42083627	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs199984746	chr19:42083634-42083635	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs376809290	chr19:42083642-42083643	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Invasive pancreatic ductal carcinoma	18765526	CNVD
Rhabdomyosarcoma	16790082	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Ovarian neoplasms	16753589	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	19029149	CNVD
Breast cancer	20409316	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Genital abnormality	22378287	CNVD
Hypospadia	22378287	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Astrocytoma	22246337	CNVD
Schizophrenia	18511947	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:765 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42081600-42083000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr19:42081800-42082800	Enhancers	Left Ventricle	heart
3	chr19:42081800-42083200	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr19:42082000-42082800	Enhancers	Lung	lung
5	chr19:42082000-42082800	Enhancers	Right Ventricle	heart
6	chr19:42082000-42083200	Enhancers	Thymus	Thymus
7	chr19:42082000-42083800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr19:42082000-42084000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr19:42082200-42082800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
10	chr19:42082200-42082800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr19:42082200-42082800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
12	chr19:42082200-42082800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr19:42082200-42082800	Enhancers	Right Atrium	heart
14	chr19:42082200-42082800	Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr19:42082200-42083000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
16	chr19:42082200-42083000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr19:42082200-42083000	Flanking Active TSS	GM12878-XiMat	blood
18	chr19:42082200-42085200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr19:42082400-42082800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
20	chr19:42082400-42082800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
21	chr19:42082400-42082800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr19:42082400-42082800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr19:42082400-42082800	Enhancers	Duodenum Mucosa	Duodenum
24	chr19:42082400-42082800	Flanking Active TSS	Fetal Thymus	thymus
25	chr19:42082400-42083000	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr19:42082400-42083000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr19:42082400-42083200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
28	chr19:42082400-42083200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr19:42082400-42083200	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr19:42082400-42083600	Flanking Active TSS	Primary B cells from cord blood	blood
31	chr19:42082400-42084000	Enhancers	Placenta	Placenta
32	chr19:42082600-42082800	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr19:42082600-42082800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
34	chr19:42082600-42082800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
35	chr19:42082600-42082800	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr19:42082600-42082800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
37	chr19:42082600-42082800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
38	chr19:42082600-42082800	Flanking Active TSS	Fetal Muscle Leg	muscle
39	chr19:42082600-42082800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
40	chr19:42082600-42083000	Flanking Active TSS	Primary B cells from peripheral blood	blood
41	chr19:42082600-42083000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
42	chr19:42082600-42083200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
43	chr19:42082600-42083800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr19:42082600-42083800	Enhancers	Spleen	Spleen
45	chr19:42082800-42083000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr19:42082800-42083000	Active TSS	Rectal Smooth Muscle	rectum
47	chr19:42082800-42083200	Active TSS	Primary hematopoietic stem cells	blood
48	chr19:42082800-42083200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr19:42082800-42083200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr19:42082800-42083400	Enhancers	Primary T cells fromperipheralblood	blood

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