Variant report

Variant	esv3411134
Chromosome Location	chr4:1339777-1342325
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	chr4:1340550-1341006	HepG2	liver:	n/a	n/a
2	ATF1	chr4:1340534-1341109	K562	blood:	n/a	n/a
3	ATF2	chr4:1340473-1340855	H1-hESC	embryonic stem cell:	n/a	chr4:1340720-1340731
4	ATF2	chr4:1340512-1341018	GM12878	blood:	n/a	chr4:1340720-1340731
5	ATF2	chr4:1340448-1340932	H1-hESC	embryonic stem cell:	n/a	chr4:1340720-1340731
6	ATF3	chr4:1340552-1341039	GM12878	blood:	n/a	chr4:1340719-1340732 chr4:1340720-1340733 chr4:1340720-1340731 chr4:1340720-1340731 chr4:1340722-1340732 chr4:1340814-1340823 chr4:1340721-1340735
7	ATF3	chr4:1340625-1341051	H1-hESC	embryonic stem cell:	n/a	chr4:1340719-1340732 chr4:1340720-1340733 chr4:1340720-1340731 chr4:1340720-1340731 chr4:1340722-1340732 chr4:1340814-1340823 chr4:1340721-1340735
8	ATF3	chr4:1340619-1341048	K562	blood:	n/a	chr4:1340719-1340732 chr4:1340720-1340733 chr4:1340720-1340731 chr4:1340720-1340731 chr4:1340722-1340732 chr4:1340814-1340823 chr4:1340721-1340735
9	ATF3	chr4:1340642-1341040	H1-hESC	embryonic stem cell:	n/a	chr4:1340719-1340732 chr4:1340720-1340733 chr4:1340720-1340731 chr4:1340720-1340731 chr4:1340722-1340732 chr4:1340814-1340823 chr4:1340721-1340735
10	ATF3	chr4:1341082-1341347	K562	blood:	n/a	n/a
11	ATF3	chr4:1340644-1341007	GM12878	blood:	n/a	chr4:1340719-1340732 chr4:1340720-1340733 chr4:1340720-1340731 chr4:1340720-1340731 chr4:1340722-1340732 chr4:1340814-1340823 chr4:1340721-1340735
12	ATF3	chr4:1340621-1341091	HepG2	liver:	n/a	chr4:1340719-1340732 chr4:1340720-1340733 chr4:1340720-1340731 chr4:1340720-1340731 chr4:1340722-1340732 chr4:1340814-1340823 chr4:1340721-1340735
13	ATF3	chr4:1340623-1341083	K562	blood:	n/a	chr4:1340719-1340732 chr4:1340720-1340733 chr4:1340720-1340731 chr4:1340720-1340731 chr4:1340722-1340732 chr4:1340814-1340823 chr4:1340721-1340735
14	BACH1	chr4:1340021-1340191	K562	blood:	n/a	n/a
15	BACH1	chr4:1339998-1340329	H1-hESC	embryonic stem cell:	n/a	n/a
16	BACH1	chr4:1340578-1340581	K562	blood:	n/a	n/a
17	BCLAF1	chr4:1340964-1341755	GM12878	blood:	n/a	chr4:1341175-1341188 chr4:1340998-1341011 chr4:1341311-1341320
18	BCLAF1	chr4:1340314-1340758	GM12878	blood:	n/a	chr4:1340687-1340700 chr4:1340532-1340545
19	BHLHE40	chr4:1340619-1340855	HepG2	liver:	n/a	chr4:1340803-1340812 chr4:1340803-1340812 chr4:1340802-1340811
20	BHLHE40	chr4:1339766-1339871	K562	blood:	n/a	n/a
21	BHLHE40	chr4:1340438-1341613	GM12878	blood:	n/a	chr4:1340803-1340812 chr4:1340803-1340812 chr4:1340802-1340811 chr4:1341208-1341224
22	BHLHE40	chr4:1340635-1340951	A549	lung:	n/a	chr4:1340803-1340812 chr4:1340803-1340812 chr4:1340802-1340811
23	BHLHE40	chr4:1339865-1340065	GM12878	blood:	n/a	n/a
24	BHLHE40	chr4:1340529-1341029	HepG2	liver:	n/a	chr4:1340803-1340812 chr4:1340803-1340812 chr4:1340802-1340811
25	BHLHE40	chr4:1340393-1341611	HepG2	liver:	n/a	chr4:1340803-1340812 chr4:1340803-1340812 chr4:1340802-1340811 chr4:1341208-1341224
26	BHLHE40	chr4:1340512-1341716	K562	blood:	n/a	chr4:1340803-1340812 chr4:1340803-1340812 chr4:1340802-1340811 chr4:1341208-1341224
27	BRCA1	chr4:1340540-1341037	Hela-S3	cervix:	n/a	n/a
28	BRCA1	chr4:1340810-1341514	H1-hESC	embryonic stem cell:	n/a	n/a
29	CBX3	chr4:1341123-1341698	K562	blood:	n/a	n/a
30	CBX3	chr4:1340078-1340360	K562	blood:	n/a	n/a
31	CBX3	chr4:1341976-1342292	K562	blood:	n/a	n/a
32	CBX3	chr4:1340440-1341078	K562	blood:	n/a	n/a
33	CCNT2	chr4:1339785-1341470	K562	blood:	n/a	chr4:1340680-1340689 chr4:1340814-1340823 chr4:1340985-1340994
34	CEBPB	chr4:1339753-1339911	K562	blood:	n/a	n/a
35	CEBPB	chr4:1340576-1341260	HepG2	liver:	n/a	n/a
36	CEBPB	chr4:1340663-1341032	IMR90	lung:	n/a	n/a
37	CEBPB	chr4:1340676-1340973	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr4:1339639-1339859	K562	blood:	n/a	n/a
39	CEBPB	chr4:1340660-1341014	K562	blood:	n/a	n/a
40	CEBPB	chr4:1340658-1340969	A549	lung:	n/a	n/a
41	CEBPB	chr4:1339696-1339908	HepG2	liver:	n/a	n/a
42	CEBPB	chr4:1339636-1339966	Hela-S3	cervix:	n/a	n/a
43	CEBPB	chr4:1340188-1340200	Hela-S3	cervix:	n/a	n/a
44	CEBPB	chr4:1340617-1340985	HepG2	liver:	n/a	n/a
45	CEBPB	chr4:1339638-1339907	H1-hESC	embryonic stem cell:	n/a	n/a
46	CEBPD	chr4:1339660-1339943	HepG2	liver:	n/a	n/a
47	CEBPD	chr4:1340141-1341264	HepG2	liver:	n/a	n/a
48	CHD1	chr4:1340484-1341667	GM12878	blood:	n/a	chr4:1340991-1341001 chr4:1340986-1340996
49	CHD2	chr4:1340421-1341581	Hela-S3	cervix:	n/a	chr4:1340991-1341001 chr4:1340986-1340996
50	CHD2	chr4:1340455-1341561	K562	blood:	n/a	chr4:1340991-1341001 chr4:1340986-1340996

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:1341064-1341114	HPAEpiC	pulmonary alveolar:	n/a
2	chr4:1340978-1341028	HCT-116	colon:	n/a
3	chr4:1341064-1341114	HPAEpiC	pulmonary alveolar:	n/a
4	chr4:1340978-1341028	HCT-116	colon:	n/a
5	chr4:1340937-1340987	HL-60	blood:	n/a
6	chr4:1340351-1340401	K562	blood:	n/a
7	chr4:1339909-1339959	HCPEpiC	choroid plexus:	n/a
8	chr4:1340084-1340134	T-47D	breast:	n/a
9	chr4:1340978-1341028	HUVEC	blood vessel:	n/a
10	chr4:1340937-1340987	GM12878	blood:	n/a
11	chr4:1340084-1340134	PrEC	prostate:	n/a
12	chr4:1340937-1340987	SK-N-SH	brain:	n/a
13	chr4:1341575-1341625	HRE	kidney:	n/a
14	chr4:1340912-1340962	HIPEpiC	eye:	n/a
15	chr4:1340204-1340254	HUVEC	blood vessel:	n/a
16	chr4:1339874-1339924	H1-hESC	embryonic stem cell:	embryo
17	chr4:1340354-1340404	H1-hESC	embryonic stem cell:	embryo
18	chr4:1340912-1340962	Hepatocyte	liver:	n/a
19	chr4:1340084-1340134	GM12892	blood:	n/a
20	chr4:1340969-1341019	PFSK-1	brain:	n/a
21	chr4:1339874-1339924	ovcar-3	ovarian:	n/a
22	chr4:1340883-1340933	NHBE	bronchial:	n/a
23	chr4:1340206-1340256	NHBE	bronchial:	n/a
24	chr4:1341064-1341114	AG10803	skin:	n/a
25	chr4:1340596-1340646	NT2-D1	testis:	n/a
26	chr4:1340596-1340646	AG09319	gingival:	n/a
27	chr4:1340602-1340652	T-47D	breast:	n/a
28	chr4:1340204-1340254	HMEC	breast:	n/a
29	chr4:1340978-1341028	HPAEpiC	pulmonary alveolar:	n/a
30	chr4:1340285-1340335	NB4	blood:	n/a
31	chr4:1342303-1342353	HUVEC	blood vessel:	n/a
32	chr4:1341575-1341625	ECC-1	luminal epithelium:	n/a
33	chr4:1340883-1340933	K562	blood:	n/a
34	chr4:1340354-1340404	HMEC	breast:	n/a
35	chr4:1340883-1340933	HRCEpiC	kidney:	n/a
36	chr4:1340981-1341031	HCF	heart:	n/a
37	chr4:1341064-1341114	NHDF-neo	bronchial:	n/a
38	chr4:1340883-1340933	HCT-116	colon:	n/a
39	chr4:1340206-1340256	A549	lung:	n/a
40	chr4:1340206-1340256	HNPCEpiC	eye:	n/a
41	chr4:1340883-1340933	SK-N-SH_RA	brain:	n/a
42	chr4:1340978-1341028	HIPEpiC	eye:	n/a
43	chr4:1340886-1340936	RPTEC	kidney:	n/a
44	chr4:1340990-1341040	ProgFib	skin:	n/a
45	chr4:1340285-1340335	GM12891	blood:	n/a
46	chr4:1339912-1339962	SK-N-SH	brain:	n/a
47	chr4:1340981-1341031	ECC-1	luminal epithelium:	n/a
48	chr4:1340886-1340936	K562	blood:	n/a
49	chr4:1341064-1341114	SAEC	small airway:	n/a
50	chr4:1341371-1341421	MCF-7	breast:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:1282437..1287650-chr4:1338224..1344043,13	MCF-7	breast:
2	chr4:1242535..1243295-chr4:1339796..1341533,6	NB4	blood:
3	chr4:1160924..1165328-chr4:1340425..1343058,5	MCF-7	breast:
4	chr4:1339661..1343694-chr4:1344237..1349254,11	K562	blood:
5	chr4:1340826..1341472-chr6:136610471..136611015,2	NB4	blood:
6	chr4:1323033..1328941-chr4:1337055..1342245,8	MCF-7	breast:
7	chr4:1339666..1341352-chr4:1711949..1713755,2	K562	blood:
8	chr4:1280840..1286312-chr4:1338111..1343712,9	K562	blood:
9	chr4:1240883..1245378-chr4:1339091..1342291,13	K562	blood:
10	chr4:1313002..1315500-chr4:1338426..1340938,2	MCF-7	breast:
11	chr4:1235141..1249133-chr4:1336906..1347308,118	MCF-7	breast:
12	chr4:1339838..1340828-chr4:53525211..53525918,2	Hela-S3	cervix:
13	chr4:1280807..1287593-chr4:1339102..1342185,6	K562	blood:
14	chr4:1339048..1342461-chr4:1794240..1796574,3	MCF-7	breast:
15	chr4:1292718..1295595-chr4:1336898..1340190,3	MCF-7	breast:
16	chr4:679728..681770-chr4:1339441..1342302,2	K562	blood:
17	chr4:1242111..1242677-chr4:1339960..1340721,2	MCF-7	breast:
18	chr4:1242623..1243687-chr4:1339944..1341149,3	MCF-7	breast:
19	chr4:984860..987749-chr4:1337412..1341360,3	MCF-7	breast:
20	chr4:1338673..1343611-chr4:1344125..1350325,16	MCF-7	breast:
21	chr4:1020442..1023399-chr4:1341128..1343589,2	MCF-7	breast:
22	chr4:1340727..1342434-chr4:1721413..1723633,2	K562	blood:
23	chr4:1336558..1338149-chr4:1338227..1340765,3	MCF-7	breast:
24	chr4:1295898..1297425-chr4:1338423..1340843,2	MCF-7	breast:
25	chr4:1242323..1243215-chr4:1340043..1340735,2	Hela-S3	cervix:
26	chr4:986608..988273-chr4:1340868..1342438,2	K562	blood:
27	chr4:1280977..1287340-chr4:1335495..1344055,33	MCF-7	breast:
28	chr4:1340887..1341514-chr6:27100502..27101039,2	Hela-S3	cervix:
29	chr4:1188846..1191354-chr4:1337880..1340557,2	MCF-7	breast:
30	chr4:1242855..1243623-chr4:1340043..1341052,3	MCF-7	breast:
31	chr4:1339117..1341001-chr4:1581105..1584040,2	K562	blood:
32	chr4:1239502..1245378-chr4:1336996..1344860,21	K562	blood:
33	chr4:1341512..1343900-chr4:1503503..1505335,2	K562	blood:
34	chr4:1339729..1343240-chr4:1359477..1362445,4	MCF-7	breast:
35	chr4:1340727..1343263-chr4:1721413..1722946,2	K562	blood:
36	chr4:1236808..1249320-chr4:1336333..1343819,66	MCF-7	breast:
37	chr19:46087664..46088172-chr4:1340936..1341514,2	Hela-S3	cervix:
38	chr4:1338699..1344021-chr4:1351274..1357737,7	MCF-7	breast:
39	chr4:1289122..1291329-chr4:1338444..1340407,2	MCF-7	breast:
40	chr4:1341180..1342012-chr7:100026036..100026804,2	NB4	blood:
41	chr4:1339011..1342367-chr4:1367715..1370691,3	MCF-7	breast:

Variant related genes	Relation type
UVSSA	TF binding region
UVSSA	CpG island
ENSG00000163950	chromatin interactions
ENSG00000169026	chromatin interactions
ENSG00000196787	chromatin interactions
ENSG00000124635	chromatin interactions
ENSG00000013810	chromatin interactions
ENSG00000078487	chromatin interactions
ENSG00000029363	chromatin interactions
ENSG00000159674	chromatin interactions
ENSG00000109189	chromatin interactions
ENSG00000196810	chromatin interactions
ENSG00000253399	chromatin interactions
ENSG00000244459	chromatin interactions
ENSG00000146834	chromatin interactions
ENSG00000159692	chromatin interactions
ENSG00000068078	chromatin interactions
ENSG00000163945	chromatin interactions
ENSG00000127415	chromatin interactions
ENSG00000250259	chromatin interactions
ENSG00000273179	chromatin interactions
ENSG00000248866	chromatin interactions
ENSG00000090316	chromatin interactions
ENSG00000145217	chromatin interactions
ENSG00000125741	chromatin interactions
ENSG00000168936	chromatin interactions

Extended variants
information (count: 118 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150435733	chr4:1339834-1339835	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
2	rs145271312	chr4:1339835-1339836	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
3	rs536145675	chr4:1339838-1339839	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
4	rs7671242	chr4:1339875-1339876	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs149160773	chr4:1339888-1339889	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
6	rs539605631	chr4:1339918-1339919	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
7	rs536930296	chr4:1339923-1339924	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
8	rs548621676	chr4:1339927-1339928	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
9	rs576098206	chr4:1339964-1339965	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
10	rs550856100	chr4:1339966-1339967	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
11	rs543535912	chr4:1339978-1339979	Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
12	rs143259196	chr4:1340082-1340083	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
13	rs573739223	chr4:1340108-1340109	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
14	rs540926114	chr4:1340144-1340145	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
15	rs559340647	chr4:1340224-1340225	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
16	rs370851628	chr4:1340251-1340252	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
17	rs533269417	chr4:1340296-1340297	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
18	rs551253409	chr4:1340322-1340323	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
19	rs563520588	chr4:1340336-1340337	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
20	rs13141169	chr4:1340353-1340354	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs371892357	chr4:1340383-1340384	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
22	rs371140977	chr4:1340389-1340390	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
23	rs7672406	chr4:1340430-1340431	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs528044655	chr4:1340450-1340451	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
25	rs546584030	chr4:1340453-1340454	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
26	rs566208676	chr4:1340497-1340498	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
27	rs78774104	chr4:1340521-1340522	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
28	rs558044633	chr4:1340558-1340559	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
29	rs569947111	chr4:1340560-1340561	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
30	rs560026651	chr4:1340578-1340579	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
31	rs188657131	chr4:1340663-1340664	Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
32	rs527462213	chr4:1340697-1340698	Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
33	rs541028068	chr4:1340726-1340727	Active TSS Weak transcription	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
34	rs13141992	chr4:1340765-1340766	Active TSS Weak transcription	TF binding region Chromatin interactive region	18 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs7690727	chr4:1340811-1340812	Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	18 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs375372137	chr4:1340828-1340829	Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
37	rs200195372	chr4:1340830-1340831	Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
38	rs13117334	chr4:1340847-1340848	Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
39	rs563324338	chr4:1340854-1340855	Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
40	rs530771506	chr4:1340879-1340880	Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
41	rs13123016	chr4:1340889-1340890	Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs560924169	chr4:1340906-1340907	Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
43	rs13140926	chr4:1340939-1340940	Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	20 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs568744120	chr4:1340972-1340973	Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
45	rs546248132	chr4:1340976-1340977	Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
46	rs571246496	chr4:1341005-1341006	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
47	rs533440628	chr4:1341012-1341013	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
48	rs375205319	chr4:1341035-1341036	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
49	rs552090550	chr4:1341047-1341048	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
50	rs369800228	chr4:1341052-1341053	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Wolf-Hirschhorn syndrome	21549014	CNVD
Breast cancer	21806811	CNVD
Wolf-Hirschhorn syndrome	22283845	CNVD
Wolf-Hirschhorn syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Wolf-Hirschhorn syndrome	22470819	CNVD
Wolf-Hirschhorn syndrome	18541967	CNVD
sporadic birth defects	19047251	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17142309	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	20932292	CNVD
Breast cancer	22522925	CNVD
Type 2 diabetes	21754918	CNVD

Chromatin state (count:438 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1338800-1342400	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr4:1339000-1340000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:1339000-1341600	Active TSS	Osteobl	bone
4	chr4:1339000-1341800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:1339000-1342000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr4:1339000-1342000	Active TSS	HSMM	muscle
7	chr4:1339200-1339800	Active TSS	Brain Germinal Matrix	brain
8	chr4:1339200-1339800	Flanking Active TSS	Fetal Brain Female	brain
9	chr4:1339200-1340000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:1339200-1340000	Flanking Active TSS	Fetal Lung	lung
11	chr4:1339200-1341400	Active TSS	HMEC	breast
12	chr4:1339200-1341400	Active TSS	NH-A	brain
13	chr4:1339200-1341600	Active TSS	Muscle Satellite Cultured Cells	--
14	chr4:1339200-1342000	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr4:1339400-1339800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:1339400-1339800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:1339400-1339800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:1339400-1339800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:1339400-1339800	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr4:1339400-1339800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
21	chr4:1339400-1339800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr4:1339400-1339800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr4:1339400-1339800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr4:1339400-1339800	Flanking Active TSS	Brain Angular Gyrus	brain
25	chr4:1339400-1339800	Flanking Active TSS	Brain Substantia Nigra	brain
26	chr4:1339400-1339800	Flanking Active TSS	Fetal Muscle Trunk	muscle
27	chr4:1339400-1339800	Flanking Active TSS	Fetal Muscle Leg	muscle
28	chr4:1339400-1339800	Flanking Active TSS	Fetal Stomach	stomach
29	chr4:1339400-1339800	Enhancers	Spleen	Spleen
30	chr4:1339400-1339800	Flanking Active TSS	Dnd41	blood
31	chr4:1339400-1339800	Flanking Active TSS	GM12878-XiMat	blood
32	chr4:1339400-1339800	Flanking Active TSS	Hela-S3	cervix
33	chr4:1339400-1339800	Flanking Active TSS	HUVEC	blood vessel
34	chr4:1339400-1339800	Flanking Active TSS	K562	blood
35	chr4:1339400-1340000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
36	chr4:1339400-1340000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
37	chr4:1339400-1340000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr4:1339400-1340000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr4:1339400-1340000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr4:1339400-1340000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
41	chr4:1339400-1340000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr4:1339400-1340000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr4:1339400-1340000	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr4:1339400-1340000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
45	chr4:1339400-1340000	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr4:1339400-1340000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr4:1339400-1340000	Flanking Active TSS	Placenta	Placenta
48	chr4:1339400-1340000	Flanking Active TSS	Fetal Thymus	thymus
49	chr4:1339400-1340000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
50	chr4:1339400-1340000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle

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