Variant report

Variant	esv3345580
Chromosome Location	chr4:1339177-1341725
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	chr4:1340642-1341040	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
7	ATF3	chr4:1341082-1341347	K562	blood:	n/a	n/a
8	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
9	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
10	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
11	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
12	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
13	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
14	BACH1	chr4:1339998-1340329	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr4:1340578-1340581	K562	blood:	n/a	n/a
16	BACH1	chr4:1340021-1340191	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	chr4:1340393-1341611	HepG2	liver:	n/a	chr4:1340803-1340812 chr4:1340803-1340812 chr4:1340802-1340811 chr4:1341208-1341224
20	BHLHE40	chr4:1340438-1341613	GM12878	blood:	n/a	chr4:1340803-1340812 chr4:1340803-1340812 chr4:1340802-1340811 chr4:1341208-1341224
21	BHLHE40	chr4:1340512-1341716	K562	blood:	n/a	chr4:1340803-1340812 chr4:1340803-1340812 chr4:1340802-1340811 chr4:1341208-1341224
22	BHLHE40	chr4:1339766-1339871	K562	blood:	n/a	n/a
23	BHLHE40	chr4:1340635-1340951	A549	lung:	n/a	chr4:1340803-1340812 chr4:1340803-1340812 chr4:1340802-1340811
24	BHLHE40	chr4:1340619-1340855	HepG2	liver:	n/a	chr4:1340803-1340812 chr4:1340803-1340812 chr4:1340802-1340811
25	BHLHE40	chr4:1340529-1341029	HepG2	liver:	n/a	chr4:1340803-1340812 chr4:1340803-1340812 chr4:1340802-1340811
26	BHLHE40	chr4:1339865-1340065	GM12878	blood:	n/a	n/a
27	BRCA1	chr4:1340810-1341514	H1-hESC	embryonic stem cell:	n/a	n/a
28	BRCA1	chr4:1340540-1341037	Hela-S3	cervix:	n/a	n/a
29	CBX3	chr4:1340078-1340360	K562	blood:	n/a	n/a
30	CBX3	chr4:1340440-1341078	K562	blood:	n/a	n/a
31	CBX3	chr4:1341123-1341698	K562	blood:	n/a	n/a
32	CCNT2	chr4:1339785-1341470	K562	blood:	n/a	chr4:1340680-1340689 chr4:1340814-1340823 chr4:1340985-1340994
33	CEBPB	chr4:1339753-1339911	K562	blood:	n/a	n/a
34	CEBPB	chr4:1340658-1340969	A549	lung:	n/a	n/a
35	CEBPB	chr4:1340188-1340200	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr4:1339696-1339908	HepG2	liver:	n/a	n/a
37	CEBPB	chr4:1339636-1339966	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	chr4:1340663-1341032	IMR90	lung:	n/a	n/a
41	CEBPB	chr4:1339638-1339907	H1-hESC	embryonic stem cell:	n/a	n/a
42	CEBPB	chr4:1340676-1340973	Hela-S3	cervix:	n/a	n/a
43	CEBPB	chr4:1340576-1341260	HepG2	liver:	n/a	n/a
44	CEBPB	chr4:1340617-1340985	HepG2	liver:	n/a	n/a
45	CEBPD	chr4:1339660-1339943	HepG2	liver:	n/a	n/a
46	CEBPD	chr4:1340141-1341264	HepG2	liver:	n/a	n/a
47	CHD1	chr4:1340484-1341667	GM12878	blood:	n/a	chr4:1340991-1341001 chr4:1340986-1340996
48	CHD2	chr4:1340385-1340403	HepG2	liver:	n/a	n/a
49	CHD2	chr4:1339740-1341572	GM12878	blood:	n/a	chr4:1340991-1341001 chr4:1340986-1340996
50	CHD2	chr4:1340539-1341456	H1-hESC	embryonic stem cell:	n/a	chr4:1340991-1341001 chr4:1340986-1340996

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:1340351-1340401	H1-hESC	embryonic stem cell:	embryo
2	chr4:1340351-1340401	H1-hESC	embryonic stem cell:	embryo
3	chr4:1340285-1340335	HRCEpiC	kidney:	n/a
4	chr4:1340084-1340134	GM12878	blood:	n/a
5	chr4:1340602-1340652	RPTEC	kidney:	n/a
6	chr4:1341539-1341589	HCM	heart:	n/a
7	chr4:1340029-1340079	MCF-7	breast:	n/a
8	chr4:1341575-1341625	SKMC	muscle:	n/a
9	chr4:1341539-1341589	Hela-S3	cervix:	n/a
10	chr4:1340981-1341031	GM12878	blood:	n/a
11	chr4:1340916-1340966	SK-N-SH_RA	brain:	n/a
12	chr4:1339547-1339597	HCM	heart:	n/a
13	chr4:1340981-1341031	HL-60	blood:	n/a
14	chr4:1340351-1340401	IMR90	lung:	fetal
15	chr4:1340978-1341028	IMR90	lung:	fetal
16	chr4:1340981-1341031	IMR90	lung:	fetal
17	chr4:1340204-1340254	ECC-1	luminal epithelium:	n/a
18	chr4:1341059-1341109	HRCEpiC	kidney:	n/a
19	chr4:1339874-1339924	Hela-S3	cervix:	n/a
20	chr4:1340204-1340254	Caco-2	colon:	n/a
21	chr4:1340084-1340134	T-47D	breast:	n/a
22	chr4:1339912-1339962	MCF-7	breast:	n/a
23	chr4:1340084-1340134	NHDF-neo	bronchial:	n/a
24	chr4:1341064-1341114	HRE	kidney:	n/a
25	chr4:1340206-1340256	AG09319	gingival:	n/a
26	chr4:1339912-1339962	BJ	skin:	n/a
27	chr4:1340285-1340335	AG04450	lung:	fetal
28	chr4:1340981-1341031	SK-N-SH_RA	brain:	n/a
29	chr4:1340912-1340962	Jurkat	blood:	n/a
30	chr4:1341575-1341625	K562	blood:	n/a
31	chr4:1339912-1339962	H1-hESC	embryonic stem cell:	embryo
32	chr4:1340807-1340857	U87	brain:	n/a
33	chr4:1340886-1340936	HEEpiC	esophagus:	n/a
34	chr4:1340831-1340881	HIPEpiC	eye:	n/a
35	chr4:1340978-1341028	RPTEC	kidney:	n/a
36	chr4:1340937-1340987	LNCaP	prostate:	n/a
37	chr4:1340285-1340335	U87	brain:	n/a
38	chr4:1340981-1341031	MCF10A-Er-Src	breast:	n/a
39	chr4:1340602-1340652	BE2_C	brain:	n/a
40	chr4:1340978-1341028	HL-60	blood:	n/a
41	chr4:1340354-1340404	PrEC	prostate:	n/a
42	chr4:1341575-1341625	LNCaP	prostate:	n/a
43	chr4:1340883-1340933	AG09309	skin:	n/a
44	chr4:1341064-1341114	Caco-2	colon:	n/a
45	chr4:1340990-1341040	K562	blood:	n/a
46	chr4:1339909-1339959	AoSMC	blood vessel:	n/a
47	chr4:1339874-1339924	U87	brain:	n/a
48	chr4:1340288-1340338	HMEC	breast:	n/a
49	chr4:1340596-1340646	HPAEpiC	pulmonary alveolar:	n/a
50	chr4:1340978-1341028	A549	lung:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:1236808..1249320-chr4:1336333..1343819,66	MCF-7	breast:
2	chr4:1235141..1249133-chr4:1336906..1347308,118	MCF-7	breast:
3	chr4:1280807..1287593-chr4:1339102..1342185,6	K562	blood:
4	chr4:1280977..1287340-chr4:1335495..1344055,33	MCF-7	breast:
5	chr4:1339661..1343694-chr4:1344237..1349254,11	K562	blood:
6	chr4:1188846..1191354-chr4:1337880..1340557,2	MCF-7	breast:
7	chr4:1242535..1243295-chr4:1339796..1341533,6	NB4	blood:
8	chr4:1242623..1243687-chr4:1339944..1341149,3	MCF-7	breast:
9	chr4:986608..988273-chr4:1340868..1342438,2	K562	blood:
10	chr4:1338699..1344021-chr4:1351274..1357737,7	MCF-7	breast:
11	chr4:1339011..1342367-chr4:1367715..1370691,3	MCF-7	breast:
12	chr4:1336595..1339547-chr4:1340996..1343146,3	MCF-7	breast:
13	chr4:1295898..1297425-chr4:1338423..1340843,2	MCF-7	breast:
14	chr4:1340727..1342434-chr4:1721413..1723633,2	K562	blood:
15	chr4:1020442..1023399-chr4:1341128..1343589,2	MCF-7	breast:
16	chr4:1339729..1343240-chr4:1359477..1362445,4	MCF-7	breast:
17	chr4:1336558..1338149-chr4:1338227..1340765,3	MCF-7	breast:
18	chr4:1341180..1342012-chr7:100026036..100026804,2	NB4	blood:
19	chr4:1339048..1342461-chr4:1794240..1796574,3	MCF-7	breast:
20	chr4:1340727..1343263-chr4:1721413..1722946,2	K562	blood:
21	chr4:1239502..1245378-chr4:1336996..1344860,21	K562	blood:
22	chr4:1323033..1328941-chr4:1337055..1342245,8	MCF-7	breast:
23	chr4:1292718..1295595-chr4:1336898..1340190,3	MCF-7	breast:
24	chr4:1280840..1286312-chr4:1338111..1343712,9	K562	blood:
25	chr4:1340826..1341472-chr6:136610471..136611015,2	NB4	blood:
26	chr4:1339838..1340828-chr4:53525211..53525918,2	Hela-S3	cervix:
27	chr4:1289122..1291329-chr4:1338444..1340407,2	MCF-7	breast:
28	chr4:1313002..1315500-chr4:1338426..1340938,2	MCF-7	breast:
29	chr4:1282437..1287650-chr4:1338224..1344043,13	MCF-7	breast:
30	chr4:1338673..1343611-chr4:1344125..1350325,16	MCF-7	breast:
31	chr4:1339117..1341001-chr4:1581105..1584040,2	K562	blood:
32	chr4:984860..987749-chr4:1337412..1341360,3	MCF-7	breast:
33	chr4:679728..681770-chr4:1339441..1342302,2	K562	blood:
34	chr4:1341512..1343900-chr4:1503503..1505335,2	K562	blood:
35	chr4:1340887..1341514-chr6:27100502..27101039,2	Hela-S3	cervix:
36	chr4:1339666..1341352-chr4:1711949..1713755,2	K562	blood:
37	chr4:1242855..1243623-chr4:1340043..1341052,3	MCF-7	breast:
38	chr4:1160924..1165328-chr4:1340425..1343058,5	MCF-7	breast:
39	chr19:46087664..46088172-chr4:1340936..1341514,2	Hela-S3	cervix:
40	chr4:1242323..1243215-chr4:1340043..1340735,2	Hela-S3	cervix:
41	chr4:1240883..1245378-chr4:1339091..1342291,13	K562	blood:
42	chr4:1242111..1242677-chr4:1339960..1340721,2	MCF-7	breast:

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

Extended variants
information (count: 112 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183011168	chr4:1339184-1339185	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
2	rs186979449	chr4:1339217-1339218	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
3	rs569633156	chr4:1339261-1339262	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
4	rs146850786	chr4:1339299-1339300	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
5	rs191872918	chr4:1339302-1339303	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
6	rs182539383	chr4:1339310-1339311	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
7	rs536178642	chr4:1339325-1339326	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
8	rs187718546	chr4:1339337-1339338	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
9	rs572591507	chr4:1339357-1339358	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs374188038	chr4:1339381-1339382	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
11	rs192383734	chr4:1339394-1339395	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
12	rs566074938	chr4:1339425-1339426	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
13	rs371091946	chr4:1339433-1339434	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
14	rs71168831	chr4:1339456-1339457	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
15	rs546273518	chr4:1339471-1339472	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
16	rs564377128	chr4:1339479-1339480	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
17	rs576491023	chr4:1339490-1339491	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
18	rs140647711	chr4:1339512-1339513	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
19	rs561765777	chr4:1339565-1339566	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
20	rs549604327	chr4:1339591-1339592	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
21	rs185573146	chr4:1339606-1339607	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
22	rs547319919	chr4:1339628-1339629	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
23	rs190494519	chr4:1339640-1339641	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
24	rs559491942	chr4:1339655-1339656	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
25	rs533028079	chr4:1339685-1339686	Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
26	rs551559870	chr4:1339694-1339695	Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
27	rs534966985	chr4:1339697-1339698	Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
28	rs192091002	chr4:1339742-1339743	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
29	rs59391666	chr4:1339774-1339775	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	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
50	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

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:451 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1303600-1339400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:1317800-1339600	Weak transcription	Right Atrium	heart
3	chr4:1333400-1339400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr4:1333800-1339200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr4:1333800-1339400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr4:1333800-1339400	Weak transcription	K562	blood
7	chr4:1334000-1339400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr4:1334000-1339400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr4:1334000-1339400	Weak transcription	Hela-S3	cervix
10	chr4:1334400-1339600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:1334600-1339400	Weak transcription	HSMMtube	muscle
12	chr4:1335000-1339400	Weak transcription	Aorta	Aorta
13	chr4:1335200-1339400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:1335200-1339400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr4:1335200-1339400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr4:1335200-1339400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr4:1335200-1339600	Weak transcription	Small Intestine	intestine
18	chr4:1335400-1339200	Weak transcription	Primary B cells from peripheral blood	blood
19	chr4:1335400-1339400	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr4:1335400-1339400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:1335400-1339400	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr4:1335400-1339400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr4:1335400-1339400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr4:1335400-1339400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr4:1335400-1339400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr4:1335400-1339400	Weak transcription	A549	lung
27	chr4:1335400-1339400	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr4:1335400-1339600	Weak transcription	Ovary	ovary
29	chr4:1335400-1339600	Weak transcription	Psoas Muscle	Psoas
30	chr4:1335400-1339600	Weak transcription	Right Ventricle	heart
31	chr4:1335600-1339400	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr4:1335600-1339400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr4:1335600-1339400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr4:1335600-1339400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr4:1335600-1339400	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr4:1335600-1339400	Weak transcription	Brain Hippocampus Middle	brain
37	chr4:1335600-1339400	Weak transcription	Brain Substantia Nigra	brain
38	chr4:1335600-1339400	Weak transcription	Colon Smooth Muscle	Colon
39	chr4:1335600-1339400	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr4:1335600-1339400	Weak transcription	Fetal Intestine Large	intestine
41	chr4:1335600-1339400	Weak transcription	Fetal Kidney	kidney
42	chr4:1335600-1339600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr4:1335600-1339600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr4:1335600-1339600	Weak transcription	Left Ventricle	heart
45	chr4:1335600-1339600	Weak transcription	Lung	lung
46	chr4:1335600-1339600	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr4:1336000-1339400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr4:1336200-1339400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr4:1336200-1339400	Weak transcription	Fetal Heart	heart
50	chr4:1336200-1339400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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