Variant report

Variant	nsv593282
Chromosome Location	chr4:1238363-1243573
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:846)
CpG islands
(count:733)
Chromatin interactive
region (count:85)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:846 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

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	ATF2	chr4:1240667-1241112	GM12878	blood:	n/a	n/a
6	ATF3	chr4:1242368-1242575	K562	blood:	n/a	n/a
7	BACH1	chr4:1241799-1243347	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr4:1241299-1241511	H1-hESC	embryonic stem cell:	n/a	n/a
9	BCLAF1	chr4:1243289-1243733	GM12878	blood:	n/a	n/a
10	BCLAF1	chr4:1242821-1243259	GM12878	blood:	n/a	n/a
11	BCLAF1	chr4:1242263-1242556	GM12878	blood:	n/a	chr4:1242402-1242415 chr4:1242292-1242305 chr4:1242456-1242469
12	BHLHE40	chr4:1241856-1242621	HepG2	liver:	n/a	chr4:1241963-1241979 chr4:1242087-1242103
13	BHLHE40	chr4:1242896-1243252	K562	blood:	n/a	n/a
14	BHLHE40	chr4:1241912-1242608	K562	blood:	n/a	chr4:1241963-1241979 chr4:1242087-1242103
15	BHLHE40	chr4:1241762-1244280	GM12878	blood:	n/a	chr4:1241963-1241979 chr4:1242087-1242103 chr4:1242757-1242773
16	BHLHE40	chr4:1240413-1241122	GM12878	blood:	n/a	n/a
17	BRCA1	chr4:1241705-1241710	HepG2	liver:	n/a	n/a
18	CCNT2	chr4:1241106-1241306	K562	blood:	n/a	n/a
19	CCNT2	chr4:1241770-1243561	K562	blood:	n/a	chr4:1242380-1242389
20	CEBPB	chr4:1242708-1242753	K562	blood:	n/a	n/a
21	CEBPB	chr4:1242575-1242881	IMR90	lung:	n/a	n/a
22	CEBPB	chr4:1242473-1242963	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr4:1242015-1243113	HepG2	liver:	n/a	n/a
24	CEBPB	chr4:1242550-1242861	HepG2	liver:	n/a	n/a
25	CEBPD	chr4:1242262-1243142	HepG2	liver:	n/a	n/a
26	CHD1	chr4:1240686-1241462	GM12878	blood:	n/a	n/a
27	CHD1	chr4:1241707-1242359	GM12878	blood:	n/a	chr4:1242276-1242286
28	CHD1	chr4:1243521-1243721	H1-hESC	embryonic stem cell:	n/a	n/a
29	CHD1	chr4:1243026-1243997	GM12878	blood:	n/a	n/a
30	CHD2	chr4:1241008-1241027	K562	blood:	n/a	n/a
31	CHD2	chr4:1241670-1242140	H1-hESC	embryonic stem cell:	n/a	n/a
32	CHD2	chr4:1242901-1243441	Hela-S3	cervix:	n/a	n/a
33	CHD2	chr4:1243054-1243152	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD2	chr4:1241814-1242452	GM12878	blood:	n/a	chr4:1242276-1242286
35	CHD2	chr4:1241628-1242272	K562	blood:	n/a	n/a
36	CHD2	chr4:1240327-1241586	GM12878	blood:	n/a	n/a
37	CHD2	chr4:1242897-1244523	GM12878	blood:	n/a	n/a
38	CHD2	chr4:1241878-1242580	Hela-S3	cervix:	n/a	chr4:1242461-1242471 chr4:1242276-1242286
39	CHD2	chr4:1243051-1243251	K562	blood:	n/a	n/a
40	CHD2	chr4:1241874-1242296	HepG2	liver:	n/a	chr4:1242276-1242286
41	CHD2	chr4:1242941-1243151	HepG2	liver:	n/a	n/a
42	CREB1	chr4:1241759-1244538	HepG2	liver:	n/a	n/a
43	CREB1	chr4:1242650-1243456	A549	lung:	n/a	n/a
44	CREB1	chr4:1241942-1242604	A549	lung:	n/a	n/a
45	CTBP2	chr4:1241939-1242313	H1-hESC	embryonic stem cell:	n/a	n/a
46	CTBP2	chr4:1243074-1243958	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr4:1243460-1243610	GM12866	blood:	n/a	n/a
48	CTCF	chr4:1241975-1242046	GM19239	blood:	n/a	chr4:1242016-1242029
49	CTCF	chr4:1241260-1241410	SK-N-SH_RA	brain:	n/a	n/a
50	CTCF	chr4:1243360-1243510	GM06990	blood:	n/a	n/a

(count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

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	chr4:1243087-1243137	MCF-7	breast:	n/a
4	chr4:1241727-1241777	BE2_C	brain:	n/a
5	chr4:1242751-1242801	HRPEpiC	eye:	n/a
6	chr4:1241188-1241238	NB4	blood:	n/a
7	chr4:1241188-1241238	HUVEC	blood vessel:	n/a
8	chr4:1240068-1240118	AG09319	gingival:	n/a
9	chr4:1240068-1240118	HRPEpiC	eye:	n/a
10	chr4:1243392-1243442	Jurkat	blood:	n/a
11	chr4:1242757-1242807	K562	blood:	n/a
12	chr4:1241727-1241777	HAEpiC	amniotic membrane:	n/a
13	chr4:1242276-1242326	HAEpiC	amniotic membrane:	n/a
14	chr4:1239370-1239420	HCPEpiC	choroid plexus:	n/a
15	chr4:1243087-1243137	K562	blood:	n/a
16	chr4:1242276-1242326	HCM	heart:	n/a
17	chr4:1243392-1243442	GM12878	blood:	n/a
18	chr4:1243392-1243442	NHDF-neo	bronchial:	n/a
19	chr4:1242276-1242326	AoSMC	blood vessel:	n/a
20	chr4:1239119-1239169	BJ	skin:	n/a
21	chr4:1239119-1239169	AG04450	lung:	fetal
22	chr4:1242276-1242326	AG09309	skin:	n/a
23	chr4:1240068-1240118	HCM	heart:	n/a
24	chr4:1242276-1242326	HepG2	liver:	n/a
25	chr4:1241727-1241777	NB4	blood:	n/a
26	chr4:1241188-1241238	IMR90	lung:	fetal
27	chr4:1242411-1242461	AG10803	skin:	n/a
28	chr4:1243087-1243137	BJ	skin:	n/a
29	chr4:1243392-1243442	ECC-1	luminal epithelium:	n/a
30	chr4:1242757-1242807	NHDF-neo	bronchial:	n/a
31	chr4:1241727-1241777	NHBE	bronchial:	n/a
32	chr4:1241188-1241238	MCF10A-Er-Src	breast:	n/a
33	chr4:1239370-1239420	AoSMC	blood vessel:	n/a
34	chr4:1242276-1242326	MCF10A-Er-Src	breast:	n/a
35	chr4:1242411-1242461	HCPEpiC	choroid plexus:	n/a
36	chr4:1242411-1242461	HIPEpiC	eye:	n/a
37	chr4:1240068-1240118	AG04449	skin:	fetal
38	chr4:1239370-1239420	HCM	heart:	n/a
39	chr4:1240068-1240118	NHBE	bronchial:	n/a
40	chr4:1242276-1242326	H1-hESC	embryonic stem cell:	embryo
41	chr4:1240068-1240118	HEK293	kidney:	embryo
42	chr4:1241188-1241238	HCM	heart:	n/a
43	chr4:1240068-1240118	HMEC	breast:	n/a
44	chr4:1242757-1242807	HepG2	liver:	n/a
45	chr4:1242751-1242801	PFSK-1	brain:	n/a
46	chr4:1241188-1241238	NT2-D1	testis:	n/a
47	chr4:1243392-1243442	AG04450	lung:	fetal
48	chr4:1241727-1241777	PANC-1	pancreas:	n/a
49	chr4:1239119-1239169	U87	brain:	n/a
50	chr4:1243392-1243442	Hepatocyte	liver:	n/a

(count:85 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr4:1239261..1239828-chr4:1556432..1557020,3	MCF-7	breast:
2	chr4:1005389..1008246-chr4:1241169..1243031,3	K562	blood:
3	chr4:1242091..1248517-chr4:1279714..1285424,16	MCF-7	breast:
4	chr4:1242456..1244235-chr4:1794617..1797238,2	MCF-7	breast:
5	chr11:62432567..62434148-chr4:1241541..1243058,2	MCF-7	breast:
6	chr4:1236833..1250005-chr4:1276188..1292579,54	MCF-7	breast:
7	chr20:58514614..58517164-chr4:1239495..1242214,2	MCF-7	breast:
8	chr4:1243202..1244078-chrX:118925366..118926206,2	Hela-S3	cervix:
9	chr4:1239502..1245378-chr4:1336996..1344860,21	K562	blood:
10	chr4:1240390..1245150-chr4:1578422..1582537,5	MCF-7	breast:
11	chr4:1238043..1241970-chr4:1281719..1285287,6	MCF-7	breast:
12	chr4:1242022..1242890-chr6:28891676..28892308,2	NB4	blood:
13	chr4:1239287..1239796-chr4:1814793..1815459,2	MCF-7	breast:
14	chr4:1238327..1240234-chr4:1330043..1332552,2	MCF-7	breast:
15	chr4:1066453..1068289-chr4:1240208..1241974,2	MCF-7	breast:
16	chr4:1159747..1163015-chr4:1240558..1244483,3	K562	blood:
17	chr4:1218830..1221524-chr4:1242783..1244802,2	MCF-7	breast:
18	chr4:1236923..1239811-chr4:1291885..1294129,2	K562	blood:
19	chr4:1235141..1249133-chr4:1336906..1347308,118	MCF-7	breast:
20	chr4:1242623..1243687-chr4:1339944..1341149,3	MCF-7	breast:
21	chr4:1051885..1054795-chr4:1239634..1242106,2	MCF-7	breast:
22	chr12:109124373..109125308-chr4:1242591..1243335,2	Hela-S3	cervix:
23	chr4:1075158..1077915-chr4:1242318..1244508,3	MCF-7	breast:
24	chr4:1145908..1147956-chr4:1241044..1242592,2	MCF-7	breast:
25	chr12:7052897..7053630-chr4:1242466..1243112,2	HCT-116	colon:
26	chr4:1238004..1248980-chr4:1275065..1286840,30	K562	blood:
27	chr15:90808545..90809368-chr4:1242287..1242851,2	Hela-S3	cervix:
28	chr4:1128219..1129832-chr4:1239417..1241300,2	MCF-7	breast:
29	chr2:24583028..24583942-chr4:1242444..1242984,2	Hela-S3	cervix:
30	chr4:1104788..1106753-chr4:1236973..1238872,2	K562	blood:
31	chr4:1005389..1007539-chr4:1241239..1243031,2	K562	blood:
32	chr17:57915852..57918679-chr4:1239651..1241849,2	MCF-7	breast:
33	chr4:986510..988350-chr4:1240959..1243694,2	MCF-7	breast:
34	chr1:151817465..151820219-chr4:1240046..1241546,2	MCF-7	breast:
35	chr4:1013317..1015069-chr4:1239149..1240689,2	K562	blood:
36	chr4:1240615..1242380-chr4:1393657..1396651,2	MCF-7	breast:
37	chr4:925435..927433-chr4:1239888..1241441,2	MCF-7	breast:
38	chr12:6977980..6980393-chr4:1240474..1243068,2	MCF-7	breast:
39	chr4:1049115..1051492-chr4:1235735..1239693,3	MCF-7	breast:
40	chr4:1242705..1243544-chr9:125590357..125590943,2	Hela-S3	cervix:
41	chr11:65188897..65190954-chr4:1242152..1244163,2	MCF-7	breast:
42	chr4:991330..992224-chr4:1239113..1239809,4	MCF-7	breast:
43	chr4:1205790..1207359-chr4:1237048..1239471,2	K562	blood:
44	chr4:1238004..1246805-chr4:1279798..1288475,25	K562	blood:
45	chr4:1239311..1239879-chr4:1556393..1557148,4	MCF-7	breast:
46	chr4:1216435..1221821-chr4:1240439..1244617,5	MCF-7	breast:
47	chr4:1189059..1190794-chr4:1239654..1242349,2	K562	blood:
48	chr4:1239325..1241522-chr4:1343447..1345640,2	K562	blood:
49	chr4:1198322..1201004-chr4:1242228..1244589,3	K562	blood:
50	chr4:1184548..1187736-chr4:1238018..1240467,3	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C4orf42-1	chr4:1243228-1243260	NONHSAT094687
2	lnc-C4orf42-1	chr4:1243496-1244138	NONHSAT094691
3	lnc-C4orf42-1	chr4:1243466-1243490	NONHSAT094690
4	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
ENSG00000136940	chromatin interactions
ENSG00000090316	chromatin interactions
ENSG00000177410	chromatin interactions
ENSG00000227189	chromatin interactions
ENSG00000182768	chromatin interactions
ENSG00000250259	chromatin interactions
ENSG00000198918	chromatin interactions
ENSG00000214756	chromatin interactions
ENSG00000159692	chromatin interactions
ENSG00000178222	chromatin interactions
ENSG00000127415	chromatin interactions
ENSG00000145217	chromatin interactions
ENSG00000122194	chromatin interactions
ENSG00000162194	chromatin interactions
ENSG00000255432	chromatin interactions
ENSG00000240455	chromatin interactions
ENSG00000199347	chromatin interactions
ENSG00000199004	chromatin interactions
ENSG00000124201	chromatin interactions
ENSG00000132825	chromatin interactions
ENSG00000206597	chromatin interactions
ENSG00000127419	chromatin interactions
ENSG00000178950	chromatin interactions
ENSG00000127418	chromatin interactions
ENSG00000068078	chromatin interactions
ENSG00000254554	chromatin interactions
ENSG00000109685	chromatin interactions
ENSG00000110880	chromatin interactions
ENSG00000238923	chromatin interactions
ENSG00000198399	chromatin interactions
ENSG00000163945	chromatin interactions
ENSG00000215367	chromatin interactions
ENSG00000245532	chromatin interactions
ENSG00000251652	chromatin interactions
ENSG00000273179	chromatin interactions
ENSG00000196227	chromatin interactions
ENSG00000111669	chromatin interactions
ENSG00000159674	chromatin interactions
ENSG00000244459	chromatin interactions
ENSG00000111678	chromatin interactions
ENSG00000204713	chromatin interactions

Extended variants
information (count: 244 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:244 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3755924	chr4:1238363-1238364	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs113358900	chr4:1238373-1238374	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs567726440	chr4:1238399-1238400	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs565688438	chr4:1238419-1238420	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs369596131	chr4:1238480-1238481	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs535244445	chr4:1238481-1238482	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs536453530	chr4:1238489-1238490	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs553004518	chr4:1238518-1238519	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs1680041	chr4:1238521-1238522	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs544992355	chr4:1238536-1238537	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs556982791	chr4:1238540-1238541	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs575173808	chr4:1238590-1238591	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
13	rs575973766	chr4:1238611-1238612	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
14	rs542589424	chr4:1238673-1238674	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs373352401	chr4:1238696-1238697	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs528244063	chr4:1238701-1238702	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs542992973	chr4:1238730-1238731	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs3775097	chr4:1238772-1238773	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs183663756	chr4:1238781-1238782	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs550576414	chr4:1238782-1238783	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs568908116	chr4:1238793-1238794	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs1250096	chr4:1238836-1238837	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs3775095	chr4:1238845-1238846	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs540739704	chr4:1238848-1238849	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs567952564	chr4:1238852-1238853	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs3775094	chr4:1238859-1238860	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs546831227	chr4:1238886-1238887	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs571404161	chr4:1238887-1238888	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs189076164	chr4:1238891-1238892	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs192851035	chr4:1238929-1238930	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs575513913	chr4:1238960-1238961	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs368825690	chr4:1238963-1238964	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs75150069	chr4:1238970-1238971	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	mRNA abundance
34	rs377251651	chr4:1238983-1238984	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs540042104	chr4:1239019-1239020	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs11723655	chr4:1239024-1239025	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs374782717	chr4:1239032-1239033	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs34510066	chr4:1239038-1239039	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs544292542	chr4:1239061-1239062	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
40	rs562594331	chr4:1239063-1239064	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
41	rs370754397	chr4:1239120-1239121	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
42	rs375054449	chr4:1239128-1239129	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
43	rs113311033	chr4:1239290-1239291	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
44	rs1250095	chr4:1239312-1239313	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs142101837	chr4:1239330-1239331	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
46	rs184399975	chr4:1239331-1239332	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
47	rs552591887	chr4:1239332-1239333	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
48	rs538862629	chr4:1239342-1239343	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
49	rs550630787	chr4:1239359-1239360	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
50	rs370899988	chr4:1239366-1239367	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 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:526 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1214400-1238400	Strong transcription	Thymus	Thymus
2	chr4:1219000-1240200	Weak transcription	Hela-S3	cervix
3	chr4:1221600-1240200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr4:1222000-1240800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr4:1225000-1240200	Weak transcription	K562	blood
6	chr4:1228400-1240000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:1228800-1239400	Weak transcription	Fetal Brain Male	brain
8	chr4:1229200-1240400	Weak transcription	Fetal Kidney	kidney
9	chr4:1229600-1239600	Weak transcription	HSMM	muscle
10	chr4:1230000-1240400	Weak transcription	HSMMtube	muscle
11	chr4:1233400-1240600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr4:1234000-1238800	Weak transcription	NH-A	brain
13	chr4:1234200-1239400	Weak transcription	Osteobl	bone
14	chr4:1234600-1240400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr4:1234600-1240800	Genic enhancers	Spleen	Spleen
16	chr4:1234800-1238800	Weak transcription	HMEC	breast
17	chr4:1234800-1240000	Genic enhancers	Fetal Intestine Large	intestine
18	chr4:1235000-1239800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:1235000-1240800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:1235000-1241200	Weak transcription	Aorta	Aorta
21	chr4:1235200-1238600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:1235200-1238600	Enhancers	Duodenum Mucosa	Duodenum
23	chr4:1235200-1240000	Weak transcription	A549	lung
24	chr4:1235200-1240000	Weak transcription	HUVEC	blood vessel
25	chr4:1235200-1240200	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr4:1235200-1240400	Enhancers	Liver	Liver
27	chr4:1235200-1240800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr4:1235400-1239000	Weak transcription	NHEK	skin
29	chr4:1235400-1240200	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr4:1235400-1240200	Enhancers	Left Ventricle	heart
31	chr4:1235400-1240600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr4:1235400-1240600	Genic enhancers	Fetal Muscle Leg	muscle
33	chr4:1235400-1240800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr4:1235400-1241000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr4:1235600-1238600	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr4:1235600-1240200	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr4:1235600-1240200	Enhancers	Right Ventricle	heart
38	chr4:1235600-1240400	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr4:1235600-1240400	Genic enhancers	Fetal Muscle Trunk	muscle
40	chr4:1235600-1240600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr4:1235600-1240600	Enhancers	Right Atrium	heart
42	chr4:1235600-1241000	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr4:1235600-1241000	Enhancers	Ovary	ovary
44	chr4:1235800-1239800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr4:1235800-1240200	Enhancers	Adipose Nuclei	Adipose
46	chr4:1235800-1240200	Enhancers	Brain Substantia Nigra	brain
47	chr4:1235800-1240200	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr4:1235800-1240400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr4:1235800-1240400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr4:1235800-1240400	Enhancers	Stomach Mucosa	stomach

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