Variant report

Variant	esv3422320
Chromosome Location	chr4:1241377-1243925
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:738)
CpG islands
(count:489)
Chromatin interactive
region (count:66)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:738 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:1243037-1243147	K562	blood:	n/a	n/a
2	ARID3A	chr4:1243563-1244084	HepG2	liver:	n/a	n/a
3	ARID3A	chr4:1242986-1242997	HepG2	liver:	n/a	n/a
4	ATF2	chr4:1241945-1242234	GM12878	blood:	n/a	n/a
5	ATF3	chr4:1242368-1242575	K562	blood:	n/a	n/a
6	BACH1	chr4:1241799-1243347	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr4:1241299-1241511	H1-hESC	embryonic stem cell:	n/a	n/a
8	BCLAF1	chr4:1242263-1242556	GM12878	blood:	n/a	chr4:1242402-1242415 chr4:1242292-1242305 chr4:1242456-1242469
9	BCLAF1	chr4:1243289-1243733	GM12878	blood:	n/a	n/a
10	BCLAF1	chr4:1242821-1243259	GM12878	blood:	n/a	n/a
11	BHLHE40	chr4:1243736-1244131	HepG2	liver:	n/a	n/a
12	BHLHE40	chr4:1241912-1242608	K562	blood:	n/a	chr4:1241963-1241979 chr4:1242087-1242103
13	BHLHE40	chr4:1241856-1242621	HepG2	liver:	n/a	chr4:1241963-1241979 chr4:1242087-1242103
14	BHLHE40	chr4:1241762-1244280	GM12878	blood:	n/a	chr4:1241963-1241979 chr4:1242087-1242103 chr4:1242757-1242773
15	BHLHE40	chr4:1242896-1243252	K562	blood:	n/a	n/a
16	BRCA1	chr4:1241705-1241710	HepG2	liver:	n/a	n/a
17	CCNT2	chr4:1241770-1243561	K562	blood:	n/a	chr4:1242380-1242389
18	CEBPB	chr4:1242550-1242861	HepG2	liver:	n/a	n/a
19	CEBPB	chr4:1243700-1244072	HepG2	liver:	n/a	chr4:1243882-1243893 chr4:1243884-1243895
20	CEBPB	chr4:1243753-1243954	HepG2	liver:	n/a	chr4:1243882-1243893 chr4:1243884-1243895
21	CEBPB	chr4:1242015-1243113	HepG2	liver:	n/a	n/a
22	CEBPB	chr4:1242473-1242963	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr4:1243763-1244032	H1-hESC	embryonic stem cell:	n/a	chr4:1243882-1243893 chr4:1243884-1243895
24	CEBPB	chr4:1243711-1244025	MCF-7	breast:	n/a	chr4:1243882-1243893 chr4:1243884-1243895
25	CEBPB	chr4:1243714-1244048	IMR90	lung:	n/a	chr4:1243882-1243893 chr4:1243884-1243895
26	CEBPB	chr4:1243710-1244077	K562	blood:	n/a	chr4:1243882-1243893 chr4:1243884-1243895
27	CEBPB	chr4:1242575-1242881	IMR90	lung:	n/a	n/a
28	CEBPB	chr4:1243752-1244053	Hela-S3	cervix:	n/a	chr4:1243882-1243893 chr4:1243884-1243895
29	CEBPB	chr4:1242708-1242753	K562	blood:	n/a	n/a
30	CEBPD	chr4:1242262-1243142	HepG2	liver:	n/a	n/a
31	CHD1	chr4:1241707-1242359	GM12878	blood:	n/a	chr4:1242276-1242286
32	CHD1	chr4:1243521-1243721	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD1	chr4:1240686-1241462	GM12878	blood:	n/a	n/a
34	CHD1	chr4:1243026-1243997	GM12878	blood:	n/a	n/a
35	CHD2	chr4:1241670-1242140	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD2	chr4:1240327-1241586	GM12878	blood:	n/a	n/a
37	CHD2	chr4:1241628-1242272	K562	blood:	n/a	n/a
38	CHD2	chr4:1242901-1243441	Hela-S3	cervix:	n/a	n/a
39	CHD2	chr4:1243054-1243152	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD2	chr4:1243652-1243902	HepG2	liver:	n/a	n/a
41	CHD2	chr4:1242941-1243151	HepG2	liver:	n/a	n/a
42	CHD2	chr4:1243051-1243251	K562	blood:	n/a	n/a
43	CHD2	chr4:1241874-1242296	HepG2	liver:	n/a	chr4:1242276-1242286
44	CHD2	chr4:1242897-1244523	GM12878	blood:	n/a	n/a
45	CHD2	chr4:1241878-1242580	Hela-S3	cervix:	n/a	chr4:1242461-1242471 chr4:1242276-1242286
46	CHD2	chr4:1241814-1242452	GM12878	blood:	n/a	chr4:1242276-1242286
47	CREB1	chr4:1242650-1243456	A549	lung:	n/a	n/a
48	CREB1	chr4:1241942-1242604	A549	lung:	n/a	n/a
49	CREB1	chr4:1241759-1244538	HepG2	liver:	n/a	n/a
50	CTBP2	chr4:1241939-1242313	H1-hESC	embryonic stem cell:	n/a	n/a

(count:489 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:1242276-1242326	LNCaP	prostate:	n/a
2	chr4:1242276-1242326	LNCaP	prostate:	n/a
3	chr4:1241727-1241777	HPAEpiC	pulmonary alveolar:	n/a
4	chr4:1243392-1243442	NHDF-neo	bronchial:	n/a
5	chr4:1241727-1241777	ProgFib	skin:	n/a
6	chr4:1242751-1242801	SAEC	small airway:	n/a
7	chr4:1243392-1243442	NH-A	brain:	n/a
8	chr4:1242757-1242807	NH-A	brain:	n/a
9	chr4:1243392-1243442	A549	lung:	n/a
10	chr4:1242757-1242807	U87	brain:	n/a
11	chr4:1242276-1242326	Caco-2	colon:	n/a
12	chr4:1242411-1242461	H1-hESC	embryonic stem cell:	embryo
13	chr4:1243849-1243899	SK-N-MC	brain:	n/a
14	chr4:1242757-1242807	HCF	heart:	n/a
15	chr4:1242276-1242326	MCF10A-Er-Src	breast:	n/a
16	chr4:1243087-1243137	IMR90	lung:	fetal
17	chr4:1243392-1243442	GM19239	blood:	n/a
18	chr4:1243392-1243442	HPAEpiC	pulmonary alveolar:	n/a
19	chr4:1243087-1243137	HCF	heart:	n/a
20	chr4:1242757-1242807	IMR90	lung:	fetal
21	chr4:1242757-1242807	SK-N-SH_RA	brain:	n/a
22	chr4:1242411-1242461	Hela-S3	cervix:	n/a
23	chr4:1243087-1243137	SK-N-MC	brain:	n/a
24	chr4:1242757-1242807	SK-N-SH	brain:	n/a
25	chr4:1242757-1242807	HEEpiC	esophagus:	n/a
26	chr4:1241727-1241777	SK-N-MC	brain:	n/a
27	chr4:1242757-1242807	ProgFib	skin:	n/a
28	chr4:1242411-1242461	SK-N-MC	brain:	n/a
29	chr4:1242411-1242461	SK-N-SH	brain:	n/a
30	chr4:1242276-1242326	SK-N-SH_RA	brain:	n/a
31	chr4:1242411-1242461	LNCaP	prostate:	n/a
32	chr4:1241727-1241777	MCF10A-Er-Src	breast:	n/a
33	chr4:1242411-1242461	HCT-116	colon:	n/a
34	chr4:1242757-1242807	AG09319	gingival:	n/a
35	chr4:1242751-1242801	HEK293	kidney:	embryo
36	chr4:1242757-1242807	SK-N-MC	brain:	n/a
37	chr4:1243849-1243899	ProgFib	skin:	n/a
38	chr4:1243087-1243137	AG09309	skin:	n/a
39	chr4:1243849-1243899	HEEpiC	esophagus:	n/a
40	chr4:1242757-1242807	HL-60	blood:	n/a
41	chr4:1242751-1242801	HIPEpiC	eye:	n/a
42	chr4:1242751-1242801	HUVEC	blood vessel:	n/a
43	chr4:1241727-1241777	AoSMC	blood vessel:	n/a
44	chr4:1242276-1242326	AG09309	skin:	n/a
45	chr4:1242757-1242807	ovcar-3	ovarian:	n/a
46	chr4:1242411-1242461	PFSK-1	brain:	n/a
47	chr4:1242751-1242801	HPAEpiC	pulmonary alveolar:	n/a
48	chr4:1242411-1242461	AG09319	gingival:	n/a
49	chr4:1243392-1243442	HepG2	liver:	n/a
50	chr4:1242276-1242326	ECC-1	luminal epithelium:	n/a

(count:66 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr4:1240615..1242380-chr4:1393657..1396651,2	MCF-7	breast:
2	chr4:1207031..1209938-chr4:1240960..1243998,4	K562	blood:
3	chr11:65188897..65190954-chr4:1242152..1244163,2	MCF-7	breast:
4	chr4:1051885..1054795-chr4:1239634..1242106,2	MCF-7	breast:
5	chr4:986510..988350-chr4:1240959..1243694,2	MCF-7	breast:
6	chr4:1236808..1249320-chr4:1336333..1343819,66	MCF-7	breast:
7	chr4:1241603..1244374-chr4:1357960..1359883,2	MCF-7	breast:
8	chr4:1243202..1244078-chrX:118925366..118926206,2	Hela-S3	cervix:
9	chr4:1103766..1108037-chr4:1241801..1244610,3	K562	blood:
10	chr12:6977980..6980393-chr4:1240474..1243068,2	MCF-7	breast:
11	chr4:926176..927850-chr4:1242051..1244022,2	K562	blood:
12	chr4:1005389..1007539-chr4:1241239..1243031,2	K562	blood:
13	chr4:1218830..1221524-chr4:1242783..1244802,2	MCF-7	breast:
14	chr12:109124373..109125308-chr4:1242591..1243335,2	Hela-S3	cervix:
15	chr4:1158166..1163360-chr4:1238498..1245354,13	MCF-7	breast:
16	chr4:1240390..1245150-chr4:1578422..1582537,5	MCF-7	breast:
17	chr4:1239325..1241522-chr4:1343447..1345640,2	K562	blood:
18	chr4:1241391..1244102-chr4:1870513..1873994,3	MCF-7	breast:
19	chr4:1240883..1245378-chr4:1339091..1342291,13	K562	blood:
20	chr15:90808545..90809368-chr4:1242287..1242851,2	Hela-S3	cervix:
21	chr12:7052897..7053630-chr4:1242466..1243112,2	HCT-116	colon:
22	chr4:1207031..1209440-chr4:1241875..1243998,2	K562	blood:
23	chr4:1238004..1246805-chr4:1279798..1288475,25	K562	blood:
24	chr11:62432567..62434148-chr4:1241541..1243058,2	MCF-7	breast:
25	chr4:1239502..1245378-chr4:1336996..1344860,21	K562	blood:
26	chr4:1121885..1124644-chr4:1239644..1241550,2	MCF-7	breast:
27	chr4:1002287..1006934-chr4:1240837..1243326,5	MCF-7	breast:
28	chr4:1215555..1220351-chr4:1239288..1242893,7	K562	blood:
29	chr4:1241391..1244976-chr4:1289369..1292052,3	MCF-7	breast:
30	chr4:1159747..1163015-chr4:1240558..1244483,3	K562	blood:
31	chr4:1242535..1243295-chr4:1339796..1341533,6	NB4	blood:
32	chr4:1005389..1008246-chr4:1241169..1243031,3	K562	blood:
33	chr4:1142514..1145503-chr4:1240960..1243114,2	K562	blood:
34	chr4:990681..994690-chr4:1238010..1243594,6	MCF-7	breast:
35	chr11:10324322..10325309-chr4:1241810..1242369,2	Hela-S3	cervix:
36	chr4:1235141..1249133-chr4:1336906..1347308,118	MCF-7	breast:
37	chr4:1216435..1221821-chr4:1240439..1244617,5	MCF-7	breast:
38	chr4:1242011..1244764-chr6:161122775..161125242,2	MCF-7	breast:
39	chr4:1198322..1201004-chr4:1242228..1244589,3	K562	blood:
40	chr4:1201438..1204113-chr4:1239051..1243365,5	MCF-7	breast:
41	chr4:1242091..1248517-chr4:1279714..1285424,16	MCF-7	breast:
42	chr4:1242456..1244235-chr4:1794617..1797238,2	MCF-7	breast:
43	chr4:1236833..1250005-chr4:1276188..1292579,54	MCF-7	breast:
44	chr4:1240362..1242023-chr4:1330911..1332884,2	MCF-7	breast:
45	chr4:1242623..1243687-chr4:1339944..1341149,3	MCF-7	breast:
46	chr20:58514614..58517164-chr4:1239495..1242214,2	MCF-7	breast:
47	chr4:1020274..1022764-chr4:1238213..1242920,4	MCF-7	breast:
48	chr4:1242705..1243544-chr9:125590357..125590943,2	Hela-S3	cervix:
49	chr2:24583028..24583942-chr4:1242444..1242984,2	Hela-S3	cervix:
50	chr20:47894742..47895294-chr4:1241968..1242662,2	Hela-S3	cervix:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C4orf42-1	chr4:1243899-1246244	NONHSAT094690
2	lnc-C4orf42-1	chr4:1243898-1244138	ENSG00000196810.4
3	lnc-C4orf42-1	chr4:1243466-1243490	NONHSAT094690
4	lnc-C4orf42-1	chr4:1243899-1244161	NONHSAT094689
5	lnc-C4orf42-1	chr4:1243228-1243260	NONHSAT094687
6	lnc-C4orf42-1	chr4:1243496-1244138	NONHSAT094691
7	lnc-C4orf42-1	chr4:1243899-1246795	NONHSAT094687
8	lnc-C4orf42-1	chr4:1243294-1243490	NONHSAT094689

No data

Variant related genes	Relation type
CTBP1	TF binding region
CTBP1-AS2	TF binding region
CTBP1	CpG island
CTBP1-AS2	CpG island
ENSG00000090316	chromatin interactions
ENSG00000251652	chromatin interactions
ENSG00000110880	chromatin interactions
ENSG00000238923	chromatin interactions
ENSG00000273179	chromatin interactions
ENSG00000127418	chromatin interactions
ENSG00000163945	chromatin interactions
ENSG00000145217	chromatin interactions
ENSG00000250259	chromatin interactions
ENSG00000127415	chromatin interactions
ENSG00000132825	chromatin interactions
ENSG00000124201	chromatin interactions
ENSG00000068078	chromatin interactions
ENSG00000122194	chromatin interactions
ENSG00000159674	chromatin interactions
ENSG00000136940	chromatin interactions
ENSG00000214756	chromatin interactions
ENSG00000127419	chromatin interactions
ENSG00000178222	chromatin interactions
ENSG00000206597	chromatin interactions
ENSG00000111669	chromatin interactions
ENSG00000245532	chromatin interactions
ENSG00000204713	chromatin interactions
ENSG00000111678	chromatin interactions
ENSG00000159692	chromatin interactions
ENSG00000178950	chromatin interactions
ENSG00000227189	chromatin interactions
ENSG00000162194	chromatin interactions
ENSG00000240455	chromatin interactions
ENSG00000177410	chromatin interactions
ENSG00000215367	chromatin interactions
ENSG00000182768	chromatin interactions
ENSG00000244459	chromatin interactions
ENSG00000198918	chromatin interactions
ENSG00000254554	chromatin interactions
ENSG00000109685	chromatin interactions
ENSG00000199347	chromatin interactions
ENSG00000198399	chromatin interactions
ENSG00000196227	chromatin interactions
ENSG00000255432	chromatin interactions
ENSG00000199004	chromatin interactions

Extended variants
information (count: 95 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186191429	chr4:1241381-1241382	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
2	rs540891231	chr4:1241408-1241409	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
3	rs559228437	chr4:1241414-1241415	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
4	rs190221504	chr4:1241417-1241418	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
5	rs551205451	chr4:1241427-1241428	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
6	rs182812888	chr4:1241438-1241439	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
7	rs3733338	chr4:1241472-1241473	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	20 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs530549138	chr4:1241490-1241491	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
9	rs3832288	chr4:1241555-1241556	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
10	rs548948733	chr4:1241557-1241558	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
11	rs3832287	chr4:1241559-1241560	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
12	rs567118087	chr4:1241560-1241561	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
13	rs55946408	chr4:1241561-1241562	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
14	rs13149599	chr4:1241562-1241563	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	mRNA abundance
15	rs140513257	chr4:1241596-1241597	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
16	rs375599784	chr4:1241618-1241619	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
17	rs554458774	chr4:1241628-1241629	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
18	rs113729614	chr4:1241697-1241698	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
19	rs566385267	chr4:1241714-1241715	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
20	rs1680035	chr4:1241752-1241753	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
21	rs540028424	chr4:1241755-1241756	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
22	rs369370505	chr4:1241807-1241808	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
23	rs576458307	chr4:1241817-1241818	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
24	rs185731595	chr4:1241818-1241819	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
25	rs555843807	chr4:1241821-1241822	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
26	rs573907933	chr4:1241867-1241868	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
27	rs541038477	chr4:1241911-1241912	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
28	rs370861555	chr4:1241962-1241963	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
29	rs559216392	chr4:1241973-1241974	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
30	rs530339220	chr4:1241976-1241977	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
31	rs374534167	chr4:1242019-1242020	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
32	rs544783368	chr4:1242023-1242024	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
33	rs563371556	chr4:1242036-1242037	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
34	rs111887780	chr4:1242083-1242084	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
35	rs530750626	chr4:1242120-1242121	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
36	rs548777532	chr4:1242149-1242150	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
37	rs567356733	chr4:1242160-1242161	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
38	rs528049132	chr4:1242179-1242180	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
39	rs79686408	chr4:1242214-1242215	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	mRNA abundance
40	rs566372893	chr4:1242339-1242340	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
41	rs540162590	chr4:1242466-1242467	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
42	rs112863928	chr4:1242475-1242476	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
43	rs570114795	chr4:1242504-1242505	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
44	rs111409520	chr4:1242505-1242506	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
45	rs537671526	chr4:1242509-1242510	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
46	rs555539890	chr4:1242512-1242513	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
47	rs574121153	chr4:1242544-1242545	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
48	rs541026437	chr4:1242710-1242711	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
49	rs552980156	chr4:1242714-1242715	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
50	rs190605405	chr4:1242832-1242833	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	33 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	20393555	CNVD
Non-syndromic sensorineural hearing loss	22297974	CNVD

Chromatin state (count:373 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1237000-1241800	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr4:1238000-1241400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr4:1238400-1241400	Flanking Active TSS	Pancreas	Pancrea
4	chr4:1239400-1241400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:1239400-1241600	Flanking Active TSS	Colonic Mucosa	Colon
6	chr4:1239600-1241400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:1239600-1241600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr4:1239800-1241400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr4:1239800-1241400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
10	chr4:1239800-1241400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
11	chr4:1239800-1241400	Flanking Active TSS	Brain Hippocampus Middle	brain
12	chr4:1239800-1241800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
13	chr4:1239800-1241800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:1239800-1242000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr4:1240000-1241400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr4:1240000-1241400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
17	chr4:1240000-1241400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
18	chr4:1240000-1241400	Flanking Active TSS	Duodenum Mucosa	Duodenum
19	chr4:1240000-1241400	Flanking Active TSS	Fetal Brain Female	brain
20	chr4:1240000-1241400	Flanking Active TSS	Rectal Smooth Muscle	rectum
21	chr4:1240000-1241400	Flanking Active TSS	HMEC	breast
22	chr4:1240000-1241400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr4:1240000-1241600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr4:1240000-1241800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr4:1240000-1241800	Transcr. at gene 5' and 3'	Dnd41	blood
26	chr4:1240200-1241400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:1240200-1241400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr4:1240200-1241400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr4:1240200-1241400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr4:1240200-1241400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr4:1240200-1241400	Flanking Active TSS	Brain Germinal Matrix	brain
32	chr4:1240200-1241400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr4:1240200-1241400	Flanking Active TSS	Fetal Intestine Large	intestine
34	chr4:1240200-1241400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
35	chr4:1240200-1241400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
36	chr4:1240200-1241400	Flanking Active TSS	Right Ventricle	heart
37	chr4:1240200-1241400	Flanking Active TSS	Thymus	Thymus
38	chr4:1240200-1241400	Flanking Active TSS	Osteobl	bone
39	chr4:1240200-1241600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
40	chr4:1240200-1241600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
41	chr4:1240200-1241800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr4:1240200-1241800	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr4:1240200-1241800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
44	chr4:1240200-1242400	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr4:1240400-1241400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr4:1240400-1241400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr4:1240400-1241400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr4:1240400-1241400	Flanking Active TSS	Liver	Liver
49	chr4:1240400-1241400	Flanking Active TSS	Fetal Thymus	thymus
50	chr4:1240400-1241400	Flanking Active TSS	Stomach Mucosa	stomach

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