Variant report

Variant	nsv878335
Chromosome Location	chr4:1237014-1254930
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1199)
CpG islands
(count:1830)
Chromatin interactive
region (count:94)
LncRNA
region (count:14)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1199 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:1243563-1244084	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:1243037-1243147	K562	blood:	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	BCL3	chr4:1236545-1237132	GM12878	blood:	n/a	n/a
10	BCL3	chr4:1236564-1237100	GM12878	blood:	n/a	n/a
11	BCLAF1	chr4:1242821-1243259	GM12878	blood:	n/a	n/a
12	BCLAF1	chr4:1242263-1242556	GM12878	blood:	n/a	chr4:1242402-1242415 chr4:1242292-1242305 chr4:1242456-1242469
13	BCLAF1	chr4:1243289-1243733	GM12878	blood:	n/a	n/a
14	BHLHE40	chr4:1241762-1244280	GM12878	blood:	n/a	chr4:1241963-1241979 chr4:1242087-1242103 chr4:1242757-1242773
15	BHLHE40	chr4:1241856-1242621	HepG2	liver:	n/a	chr4:1241963-1241979 chr4:1242087-1242103
16	BHLHE40	chr4:1240413-1241122	GM12878	blood:	n/a	n/a
17	BHLHE40	chr4:1241912-1242608	K562	blood:	n/a	chr4:1241963-1241979 chr4:1242087-1242103
18	BHLHE40	chr4:1242896-1243252	K562	blood:	n/a	n/a
19	BHLHE40	chr4:1243736-1244131	HepG2	liver:	n/a	n/a
20	BRCA1	chr4:1241705-1241710	HepG2	liver:	n/a	n/a
21	CBX3	chr4:1249033-1249374	K562	blood:	n/a	n/a
22	CCNT2	chr4:1241770-1243561	K562	blood:	n/a	chr4:1242380-1242389
23	CCNT2	chr4:1241106-1241306	K562	blood:	n/a	n/a
24	CEBPB	chr4:1243714-1244048	IMR90	lung:	n/a	chr4:1243882-1243893 chr4:1243884-1243895
25	CEBPB	chr4:1243700-1244072	HepG2	liver:	n/a	chr4:1243882-1243893 chr4:1243884-1243895
26	CEBPB	chr4:1246993-1247214	A549	lung:	n/a	chr4:1247031-1247042
27	CEBPB	chr4:1242015-1243113	HepG2	liver:	n/a	n/a
28	CEBPB	chr4:1247034-1247238	K562	blood:	n/a	n/a
29	CEBPB	chr4:1243752-1244053	Hela-S3	cervix:	n/a	chr4:1243882-1243893 chr4:1243884-1243895
30	CEBPB	chr4:1243753-1243954	HepG2	liver:	n/a	chr4:1243882-1243893 chr4:1243884-1243895
31	CEBPB	chr4:1246848-1247238	HepG2	liver:	n/a	chr4:1247031-1247042
32	CEBPB	chr4:1243710-1244077	K562	blood:	n/a	chr4:1243882-1243893 chr4:1243884-1243895
33	CEBPB	chr4:1247005-1247303	IMR90	lung:	n/a	chr4:1247031-1247042
34	CEBPB	chr4:1242473-1242963	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr4:1247014-1247262	Hela-S3	cervix:	n/a	chr4:1247031-1247042
36	CEBPB	chr4:1246832-1247276	HepG2	liver:	n/a	chr4:1247031-1247042
37	CEBPB	chr4:1249034-1249183	K562	blood:	n/a	n/a
38	CEBPB	chr4:1243711-1244025	MCF-7	breast:	n/a	chr4:1243882-1243893 chr4:1243884-1243895
39	CEBPB	chr4:1248940-1249307	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chr4:1246848-1247242	HepG2	liver:	n/a	chr4:1247031-1247042
41	CEBPB	chr4:1243763-1244032	H1-hESC	embryonic stem cell:	n/a	chr4:1243882-1243893 chr4:1243884-1243895
42	CEBPB	chr4:1242708-1242753	K562	blood:	n/a	n/a
43	CEBPB	chr4:1242550-1242861	HepG2	liver:	n/a	n/a
44	CEBPB	chr4:1242575-1242881	IMR90	lung:	n/a	n/a
45	CEBPD	chr4:1242262-1243142	HepG2	liver:	n/a	n/a
46	CHD1	chr4:1241707-1242359	GM12878	blood:	n/a	chr4:1242276-1242286
47	CHD1	chr4:1243521-1243721	H1-hESC	embryonic stem cell:	n/a	n/a
48	CHD1	chr4:1240686-1241462	GM12878	blood:	n/a	n/a
49	CHD1	chr4:1243026-1243997	GM12878	blood:	n/a	n/a
50	CHD2	chr4:1241628-1242272	K562	blood:	n/a	n/a

(count:1830 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:1242757-1242807	NT2-D1	testis:	n/a
2	chr4:1243087-1243137	ECC-1	luminal epithelium:	n/a
3	chr4:1242757-1242807	MCF-7	breast:	n/a
4	chr4:1244086-1244136	GM12878	blood:	n/a
5	chr4:1245021-1245071	CMK	blood:	n/a
6	chr4:1244024-1244074	HAEpiC	amniotic membrane:	n/a
7	chr4:1240264-1240314	PrEC	prostate:	n/a
8	chr4:1244017-1244067	HCM	heart:	n/a
9	chr4:1242757-1242807	NHDF-neo	bronchial:	n/a
10	chr4:1245021-1245071	PrEC	prostate:	n/a
11	chr4:1245662-1245712	T-47D	breast:	n/a
12	chr4:1242757-1242807	HPAEpiC	pulmonary alveolar:	n/a
13	chr4:1242276-1242326	AG10803	skin:	n/a
14	chr4:1243392-1243442	PFSK-1	brain:	n/a
15	chr4:1239119-1239169	SK-N-SH_RA	brain:	n/a
16	chr4:1239370-1239420	HCM	heart:	n/a
17	chr4:1242411-1242461	HUVEC	blood vessel:	n/a
18	chr4:1243980-1244030	T-47D	breast:	n/a
19	chr4:1242276-1242326	CMK	blood:	n/a
20	chr4:1247683-1247733	PrEC	prostate:	n/a
21	chr4:1242751-1242801	HEEpiC	esophagus:	n/a
22	chr4:1240068-1240118	HAEpiC	amniotic membrane:	n/a
23	chr4:1244006-1244056	PrEC	prostate:	n/a
24	chr4:1245565-1245615	AG09309	skin:	n/a
25	chr4:1241188-1241238	Hepatocyte	liver:	n/a
26	chr4:1239119-1239169	SAEC	small airway:	n/a
27	chr4:1243849-1243899	MCF10A-Er-Src	breast:	n/a
28	chr4:1244006-1244056	MCF-7	breast:	n/a
29	chr4:1242276-1242326	HRPEpiC	eye:	n/a
30	chr4:1242276-1242326	GM12892	blood:	n/a
31	chr4:1242411-1242461	HL-60	blood:	n/a
32	chr4:1254474-1254524	HCPEpiC	choroid plexus:	n/a
33	chr4:1242757-1242807	MCF10A-Er-Src	breast:	n/a
34	chr4:1245691-1245741	HRCEpiC	kidney:	n/a
35	chr4:1239370-1239420	Hela-S3	cervix:	n/a
36	chr4:1240264-1240314	HMEC	breast:	n/a
37	chr4:1245691-1245741	SK-N-MC	brain:	n/a
38	chr4:1242276-1242326	ProgFib	skin:	n/a
39	chr4:1243980-1244030	AG09319	gingival:	n/a
40	chr4:1241727-1241777	AG09319	gingival:	n/a
41	chr4:1245021-1245071	GM12878	blood:	n/a
42	chr4:1245021-1245071	Hepatocyte	liver:	n/a
43	chr4:1243392-1243442	BJ	skin:	n/a
44	chr4:1244504-1244554	GM12878	blood:	n/a
45	chr4:1245287-1245337	HCM	heart:	n/a
46	chr4:1244086-1244136	HRPEpiC	eye:	n/a
47	chr4:1245565-1245615	HIPEpiC	eye:	n/a
48	chr4:1240264-1240314	AG09309	skin:	n/a
49	chr4:1242757-1242807	SAEC	small airway:	n/a
50	chr4:1237995-1238045	NT2-D1	testis:	n/a

(count:94 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr4:1216435..1221821-chr4:1240439..1244617,5	MCF-7	breast:
2	chr4:1066453..1068289-chr4:1240208..1241974,2	MCF-7	breast:
3	chr4:1020274..1022764-chr4:1238213..1242920,4	MCF-7	breast:
4	chr4:1218830..1221524-chr4:1242783..1244802,2	MCF-7	breast:
5	chr4:1242011..1244764-chr6:161122775..161125242,2	MCF-7	breast:
6	chr4:1252379..1256435-chr4:1257303..1259691,3	K562	blood:
7	chr11:10324322..10325309-chr4:1241810..1242369,2	Hela-S3	cervix:
8	chr12:109124373..109125308-chr4:1242591..1243335,2	Hela-S3	cervix:
9	chr4:1239502..1245378-chr4:1336996..1344860,21	K562	blood:
10	chr4:1242456..1244235-chr4:1794617..1797238,2	MCF-7	breast:
11	chr4:1189059..1190794-chr4:1239654..1242349,2	K562	blood:
12	chr4:1207031..1209440-chr4:1241875..1243998,2	K562	blood:
13	chr4:1242535..1243295-chr4:1339796..1341533,6	NB4	blood:
14	chr4:991330..992224-chr4:1239113..1239809,3	MCF-7	breast:
15	chr4:1204863..1206646-chr4:1239464..1241348,2	K562	blood:
16	chr4:1240883..1245378-chr4:1339091..1342291,13	K562	blood:
17	chr4:1217670..1219491-chr4:1243014..1244747,2	K562	blood:
18	chr1:11968198..11969063-chr4:1242972..1243738,2	Hela-S3	cervix:
19	chr4:1215555..1220351-chr4:1239288..1242893,7	K562	blood:
20	chr4:1207048..1210414-chr4:1237792..1241348,3	K562	blood:
21	chr4:1198322..1201004-chr4:1242228..1244589,3	K562	blood:
22	chr4:1013317..1015069-chr4:1239149..1240689,2	K562	blood:
23	chr20:47894742..47895294-chr4:1241968..1242662,2	Hela-S3	cervix:
24	chr4:1240390..1245150-chr4:1578422..1582537,5	MCF-7	breast:
25	chr20:58514614..58517164-chr4:1239495..1242214,2	MCF-7	breast:
26	chr4:1121885..1124644-chr4:1239644..1241550,2	MCF-7	breast:
27	chr4:1209959..1212251-chr4:1238476..1240905,2	MCF-7	breast:
28	chr4:1103766..1108037-chr4:1241801..1244610,3	K562	blood:
29	chr4:1253951..1256902-chr4:1281698..1284432,3	MCF-7	breast:
30	chr4:1236665..1239012-chr4:1297497..1299590,2	K562	blood:
31	chr4:1239311..1239879-chr4:1556393..1557148,4	MCF-7	breast:
32	chr4:1210359..1211936-chr4:1235947..1237642,2	K562	blood:
33	chr4:1003725..1006599-chr4:1238644..1243840,5	MCF-7	breast:
34	chr4:1215883..1221793-chr4:1233494..1238232,6	K562	blood:
35	chr4:1235141..1249133-chr4:1336906..1347308,118	MCF-7	breast:
36	chr4:1075158..1077915-chr4:1242318..1244508,3	MCF-7	breast:
37	chr4:1250499..1252704-chr4:1269110..1272054,2	MCF-7	breast:
38	chr12:6977980..6980393-chr4:1240474..1243068,2	MCF-7	breast:
39	chr4:1242705..1243544-chr9:125590357..125590943,2	Hela-S3	cervix:
40	chr2:24583028..24583942-chr4:1242444..1242984,2	Hela-S3	cervix:
41	chr4:1159747..1163015-chr4:1240558..1244483,3	K562	blood:
42	chr4:1236833..1250005-chr4:1276188..1292579,54	MCF-7	breast:
43	chr4:1240615..1242380-chr4:1393657..1396651,2	MCF-7	breast:
44	chr4:1242022..1242890-chr6:28891676..28892308,2	NB4	blood:
45	chr4:1241391..1244976-chr4:1289369..1292052,3	MCF-7	breast:
46	chr4:1238004..1246805-chr4:1279798..1288475,25	K562	blood:
47	chr4:1159229..1162099-chr4:1242725..1245069,2	K562	blood:
48	chr4:1238004..1248980-chr4:1275065..1286840,30	K562	blood:
49	chr15:90808545..90809368-chr4:1242287..1242851,2	Hela-S3	cervix:
50	chr4:1241603..1244374-chr4:1357960..1359883,2	MCF-7	breast:

(count:14 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C4orf42-1	chr4:1243228-1243260	NONHSAT094687
2	lnc-C4orf42-1	chr4:1243899-1246244	NONHSAT094690
3	lnc-C4orf42-1	chr4:1243496-1244138	NONHSAT094691
4	lnc-C4orf42-1	chr4:1243899-1246795	NONHSAT094687
5	lnc-C4orf42-1	chr4:1244314-1245224	ENSG00000196810.4
6	lnc-C4orf42-1	chr4:1244047-1249698	ENSG00000196810.4
7	lnc-C4orf42-1	chr4:1244684-1244975	ENSG00000196810.4
8	lnc-C4orf42-1	chr4:1243466-1243490	NONHSAT094690
9	lnc-C4orf42-1	chr4:1244684-1246358	NONHSAT094691
10	lnc-C4orf42-1	chr4:1246779-1248377	ENSG00000196810.4
11	lnc-C4orf42-1	chr4:1243294-1243490	NONHSAT094689
12	lnc-C4orf42-1	chr4:1244684-1246110	NONHSAT094689
13	lnc-C4orf42-1	chr4:1243898-1244138	ENSG00000196810.4
14	lnc-C4orf42-1	chr4:1243899-1244161	NONHSAT094689

No data

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

Extended variants
information (count: 792 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:792 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3755930	chr4:1237014-1237015	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	mRNA abundance
2	rs562065623	chr4:1237019-1237020	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs529257262	chr4:1237020-1237021	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs547474304	chr4:1237046-1237047	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs559591175	chr4:1237047-1237048	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs1250099	chr4:1237052-1237053	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs560849677	chr4:1237056-1237057	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs2170321	chr4:1237077-1237078	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	mRNA abundance
9	rs536864745	chr4:1237091-1237092	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs561275354	chr4:1237107-1237108	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs548640775	chr4:1237155-1237156	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs528547592	chr4:1237192-1237193	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs540366598	chr4:1237229-1237230	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs145289147	chr4:1237261-1237262	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs191389716	chr4:1237319-1237320	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs572694640	chr4:1237351-1237352	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs540162901	chr4:1237352-1237353	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs558366129	chr4:1237377-1237378	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs147625291	chr4:1237414-1237415	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs544050193	chr4:1237415-1237416	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs115841940	chr4:1237425-1237426	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs1732120	chr4:1237476-1237477	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs114263592	chr4:1237495-1237496	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs372168569	chr4:1237548-1237549	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs140501446	chr4:1237560-1237561	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs116482612	chr4:1237564-1237565	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs533043114	chr4:1237574-1237575	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs551229712	chr4:1237634-1237635	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs565413363	chr4:1237656-1237657	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs144307349	chr4:1237693-1237694	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs376760770	chr4:1237706-1237707	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs541597043	chr4:1237733-1237734	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs567344587	chr4:1237776-1237777	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs534465872	chr4:1237782-1237783	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs111353691	chr4:1237836-1237837	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs113412175	chr4:1237880-1237881	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs185568701	chr4:1237936-1237937	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs151157996	chr4:1237947-1237948	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs2335855	chr4:1237968-1237969	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs190379748	chr4:1237972-1237973	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs537598958	chr4:1237974-1237975	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs182178256	chr4:1237996-1237997	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs555733502	chr4:1238053-1238054	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs574060377	chr4:1238063-1238064	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs140107397	chr4:1238072-1238073	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs368760383	chr4:1238073-1238074	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs186959801	chr4:1238092-1238093	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs545006250	chr4:1238110-1238111	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs563202477	chr4:1238129-1238130	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs140716958	chr4:1238142-1238143	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 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:1008 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

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	chr4:1228800-1238000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:1228800-1239400	Weak transcription	Fetal Brain Male	brain
9	chr4:1229200-1240400	Weak transcription	Fetal Kidney	kidney
10	chr4:1229600-1237800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:1229600-1239600	Weak transcription	HSMM	muscle
12	chr4:1230000-1238200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:1230000-1240400	Weak transcription	HSMMtube	muscle
14	chr4:1232000-1237200	Weak transcription	Primary B cells from cord blood	blood
15	chr4:1233400-1240600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:1234000-1238800	Weak transcription	NH-A	brain
17	chr4:1234200-1237400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr4:1234200-1239400	Weak transcription	Osteobl	bone
19	chr4:1234600-1237800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr4:1234600-1240400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr4:1234600-1240800	Genic enhancers	Spleen	Spleen
22	chr4:1234800-1237600	Weak transcription	NHDF-Ad	bronchial
23	chr4:1234800-1238800	Weak transcription	HMEC	breast
24	chr4:1234800-1240000	Genic enhancers	Fetal Intestine Large	intestine
25	chr4:1235000-1239800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:1235000-1240800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:1235000-1241200	Weak transcription	Aorta	Aorta
28	chr4:1235200-1237600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr4:1235200-1237800	Genic enhancers	Fetal Intestine Small	intestine
30	chr4:1235200-1238000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr4:1235200-1238000	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr4:1235200-1238200	Weak transcription	HepG2	liver
33	chr4:1235200-1238600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr4:1235200-1238600	Enhancers	Duodenum Mucosa	Duodenum
35	chr4:1235200-1240000	Weak transcription	A549	lung
36	chr4:1235200-1240000	Weak transcription	HUVEC	blood vessel
37	chr4:1235200-1240200	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr4:1235200-1240400	Enhancers	Liver	Liver
39	chr4:1235200-1240800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr4:1235400-1237800	Genic enhancers	Lung	lung
41	chr4:1235400-1239000	Weak transcription	NHEK	skin
42	chr4:1235400-1240200	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr4:1235400-1240200	Enhancers	Left Ventricle	heart
44	chr4:1235400-1240600	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr4:1235400-1240600	Genic enhancers	Fetal Muscle Leg	muscle
46	chr4:1235400-1240800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr4:1235400-1241000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr4:1235600-1238000	Enhancers	Colonic Mucosa	Colon
49	chr4:1235600-1238200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr4:1235600-1238600	Enhancers	Sigmoid Colon	Sigmoid Colon

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