Variant report

Variant	nsv878337
Chromosome Location	chr4:1240091-1254930
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1034)
CpG islands
(count:1651)
Chromatin interactive
region (count:81)
LncRNA
region (count:14)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1034 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr4:1242986-1242997	HepG2	liver:	n/a	n/a
2	ARID3A	chr4:1243037-1243147	K562	blood:	n/a	n/a
3	ARID3A	chr4:1243563-1244084	HepG2	liver:	n/a	n/a
4	ATF2	chr4:1240667-1241112	GM12878	blood:	n/a	n/a
5	ATF2	chr4:1241945-1242234	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	chr4:1240413-1241122	GM12878	blood:	n/a	n/a
13	BHLHE40	chr4:1241912-1242608	K562	blood:	n/a	chr4:1241963-1241979 chr4:1242087-1242103
14	BHLHE40	chr4:1241856-1242621	HepG2	liver:	n/a	chr4:1241963-1241979 chr4:1242087-1242103
15	BHLHE40	chr4:1243736-1244131	HepG2	liver:	n/a	n/a
16	BHLHE40	chr4:1242896-1243252	K562	blood:	n/a	n/a
17	BHLHE40	chr4:1241762-1244280	GM12878	blood:	n/a	chr4:1241963-1241979 chr4:1242087-1242103 chr4:1242757-1242773
18	BRCA1	chr4:1241705-1241710	HepG2	liver:	n/a	n/a
19	CBX3	chr4:1249033-1249374	K562	blood:	n/a	n/a
20	CCNT2	chr4:1241106-1241306	K562	blood:	n/a	n/a
21	CCNT2	chr4:1241770-1243561	K562	blood:	n/a	chr4:1242380-1242389
22	CEBPB	chr4:1247034-1247238	K562	blood:	n/a	n/a
23	CEBPB	chr4:1243752-1244053	Hela-S3	cervix:	n/a	chr4:1243882-1243893 chr4:1243884-1243895
24	CEBPB	chr4:1246993-1247214	A549	lung:	n/a	chr4:1247031-1247042
25	CEBPB	chr4:1246848-1247238	HepG2	liver:	n/a	chr4:1247031-1247042
26	CEBPB	chr4:1243700-1244072	HepG2	liver:	n/a	chr4:1243882-1243893 chr4:1243884-1243895
27	CEBPB	chr4:1243711-1244025	MCF-7	breast:	n/a	chr4:1243882-1243893 chr4:1243884-1243895
28	CEBPB	chr4:1243710-1244077	K562	blood:	n/a	chr4:1243882-1243893 chr4:1243884-1243895
29	CEBPB	chr4:1247005-1247303	IMR90	lung:	n/a	chr4:1247031-1247042
30	CEBPB	chr4:1243714-1244048	IMR90	lung:	n/a	chr4:1243882-1243893 chr4:1243884-1243895
31	CEBPB	chr4:1246848-1247242	HepG2	liver:	n/a	chr4:1247031-1247042
32	CEBPB	chr4:1242015-1243113	HepG2	liver:	n/a	n/a
33	CEBPB	chr4:1246832-1247276	HepG2	liver:	n/a	chr4:1247031-1247042
34	CEBPB	chr4:1243753-1243954	HepG2	liver:	n/a	chr4:1243882-1243893 chr4:1243884-1243895
35	CEBPB	chr4:1242575-1242881	IMR90	lung:	n/a	n/a
36	CEBPB	chr4:1242708-1242753	K562	blood:	n/a	n/a
37	CEBPB	chr4:1249034-1249183	K562	blood:	n/a	n/a
38	CEBPB	chr4:1243763-1244032	H1-hESC	embryonic stem cell:	n/a	chr4:1243882-1243893 chr4:1243884-1243895
39	CEBPB	chr4:1247014-1247262	Hela-S3	cervix:	n/a	chr4:1247031-1247042
40	CEBPB	chr4:1248940-1249307	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr4:1242550-1242861	HepG2	liver:	n/a	n/a
42	CEBPB	chr4:1242473-1242963	Hela-S3	cervix:	n/a	n/a
43	CEBPD	chr4:1242262-1243142	HepG2	liver:	n/a	n/a
44	CHD1	chr4:1240686-1241462	GM12878	blood:	n/a	n/a
45	CHD1	chr4:1243026-1243997	GM12878	blood:	n/a	n/a
46	CHD1	chr4:1243521-1243721	H1-hESC	embryonic stem cell:	n/a	n/a
47	CHD1	chr4:1241707-1242359	GM12878	blood:	n/a	chr4:1242276-1242286
48	CHD2	chr4:1243051-1243251	K562	blood:	n/a	n/a
49	CHD2	chr4:1241008-1241027	K562	blood:	n/a	n/a
50	CHD2	chr4:1240327-1241586	GM12878	blood:	n/a	n/a

(count:1651 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:1245287-1245337	CMK	blood:	n/a
2	chr4:1243980-1244030	T-47D	breast:	n/a
3	chr4:1241188-1241238	Jurkat	blood:	n/a
4	chr4:1245287-1245337	GM12878	blood:	n/a
5	chr4:1245287-1245337	CMK	blood:	n/a
6	chr4:1243980-1244030	T-47D	breast:	n/a
7	chr4:1241188-1241238	Jurkat	blood:	n/a
8	chr4:1245287-1245337	GM12878	blood:	n/a
9	chr4:1245691-1245741	K562	blood:	n/a
10	chr4:1244017-1244067	ovcar-3	ovarian:	n/a
11	chr4:1245287-1245337	HRE	kidney:	n/a
12	chr4:1254474-1254524	NH-A	brain:	n/a
13	chr4:1244360-1244410	HCT-116	colon:	n/a
14	chr4:1242757-1242807	HepG2	liver:	n/a
15	chr4:1244504-1244554	GM06990	blood:	n/a
16	chr4:1254474-1254524	LNCaP	prostate:	n/a
17	chr4:1244024-1244074	GM12891	blood:	n/a
18	chr4:1244006-1244056	A549	lung:	n/a
19	chr4:1245565-1245615	GM06990	blood:	n/a
20	chr4:1244006-1244056	HCM	heart:	n/a
21	chr4:1243392-1243442	HRPEpiC	eye:	n/a
22	chr4:1243849-1243899	SK-N-SH	brain:	n/a
23	chr4:1241727-1241777	AG04449	skin:	fetal
24	chr4:1242757-1242807	BE2_C	brain:	n/a
25	chr4:1244042-1244092	GM12892	blood:	n/a
26	chr4:1245691-1245741	HEEpiC	esophagus:	n/a
27	chr4:1245021-1245071	BE2_C	brain:	n/a
28	chr4:1243087-1243137	CMK	blood:	n/a
29	chr4:1243392-1243442	ProgFib	skin:	n/a
30	chr4:1242276-1242326	Hela-S3	cervix:	n/a
31	chr4:1240264-1240314	HCF	heart:	n/a
32	chr4:1241188-1241238	SK-N-MC	brain:	n/a
33	chr4:1244504-1244554	HRCEpiC	kidney:	n/a
34	chr4:1244017-1244067	NHBE	bronchial:	n/a
35	chr4:1245662-1245712	MCF-7	breast:	n/a
36	chr4:1244006-1244056	HMEC	breast:	n/a
37	chr4:1243392-1243442	AG09309	skin:	n/a
38	chr4:1243087-1243137	Hela-S3	cervix:	n/a
39	chr4:1242411-1242461	HCPEpiC	choroid plexus:	n/a
40	chr4:1243392-1243442	HEK293	kidney:	embryo
41	chr4:1240264-1240314	HUVEC	blood vessel:	n/a
42	chr4:1244017-1244067	HPAEpiC	pulmonary alveolar:	n/a
43	chr4:1244042-1244092	SK-N-SH	brain:	n/a
44	chr4:1242757-1242807	H1-hESC	embryonic stem cell:	embryo
45	chr4:1241727-1241777	AG09309	skin:	n/a
46	chr4:1244006-1244056	HepG2	liver:	n/a
47	chr4:1254474-1254524	SK-N-MC	brain:	n/a
48	chr4:1245287-1245337	SKMC	muscle:	n/a
49	chr4:1243849-1243899	A549	lung:	n/a
50	chr4:1254474-1254524	HNPCEpiC	eye:	n/a

(count:81 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr4:1242036..1244791-chr4:1580291..1583222,3	MCF-7	breast:
2	chr11:10324322..10325309-chr4:1241810..1242369,2	Hela-S3	cervix:
3	chr4:1242011..1244764-chr6:161122775..161125242,2	MCF-7	breast:
4	chr4:1239325..1241522-chr4:1343447..1345640,2	K562	blood:
5	chr12:109124373..109125308-chr4:1242591..1243335,2	Hela-S3	cervix:
6	chr4:1215555..1220351-chr4:1239288..1242893,7	K562	blood:
7	chr20:47894742..47895294-chr4:1241968..1242662,2	Hela-S3	cervix:
8	chr4:1242022..1242890-chr6:28891676..28892308,2	NB4	blood:
9	chr4:1005389..1008246-chr4:1241169..1243031,3	K562	blood:
10	chr4:986510..988350-chr4:1240959..1243694,2	MCF-7	breast:
11	chr4:1236808..1249320-chr4:1336333..1343819,66	MCF-7	breast:
12	chr4:1252379..1256435-chr4:1257303..1259691,3	K562	blood:
13	chr4:1253951..1256902-chr4:1281698..1284432,3	MCF-7	breast:
14	chr4:1207031..1209938-chr4:1240960..1243998,4	K562	blood:
15	chr4:1250059..1252371-chr4:1259642..1261455,2	MCF-7	breast:
16	chr4:1240362..1242023-chr4:1330911..1332884,2	MCF-7	breast:
17	chr4:1216435..1221821-chr4:1240439..1244617,5	MCF-7	breast:
18	chr4:1242091..1248517-chr4:1279714..1285424,16	MCF-7	breast:
19	chr4:1238043..1241970-chr4:1281719..1285287,6	MCF-7	breast:
20	chr4:1241391..1244102-chr4:1870513..1873994,3	MCF-7	breast:
21	chr4:1013317..1015069-chr4:1239149..1240689,2	K562	blood:
22	chr4:1238103..1240544-chr4:1359472..1361633,2	MCF-7	breast:
23	chr4:1242705..1243544-chr9:125590357..125590943,2	Hela-S3	cervix:
24	chr4:1003725..1006599-chr4:1238644..1243840,5	MCF-7	breast:
25	chr1:151817465..151820219-chr4:1240046..1241546,2	MCF-7	breast:
26	chr4:1240883..1245378-chr4:1339091..1342291,13	K562	blood:
27	chr1:11968198..11969063-chr4:1242972..1243738,2	Hela-S3	cervix:
28	chr4:1103766..1108037-chr4:1241801..1244610,3	K562	blood:
29	chr17:57915852..57918679-chr4:1239651..1241849,2	MCF-7	breast:
30	chr4:1238327..1240234-chr4:1330043..1332552,2	MCF-7	breast:
31	chr4:1250499..1252704-chr4:1269110..1272054,2	MCF-7	breast:
32	chr4:1051885..1054795-chr4:1239634..1242106,2	MCF-7	breast:
33	chr4:1005389..1007539-chr4:1241239..1243031,2	K562	blood:
34	chr11:65188897..65190954-chr4:1242152..1244163,2	MCF-7	breast:
35	chr4:1002287..1006934-chr4:1240837..1243326,5	MCF-7	breast:
36	chr4:1189059..1190794-chr4:1239654..1242349,2	K562	blood:
37	chr12:7052897..7053630-chr4:1242466..1243112,2	HCT-116	colon:
38	chr4:1236833..1250005-chr4:1276188..1292579,54	MCF-7	breast:
39	chr4:1243202..1244078-chrX:118925366..118926206,2	Hela-S3	cervix:
40	chr4:1020274..1022764-chr4:1238213..1242920,4	MCF-7	breast:
41	chr22:19753378..19753923-chr4:1241674..1242389,2	HCT-116	colon:
42	chr4:1235141..1249133-chr4:1336906..1347308,118	MCF-7	breast:
43	chr4:990681..994690-chr4:1238010..1243594,6	MCF-7	breast:
44	chr4:1159747..1163015-chr4:1240558..1244483,3	K562	blood:
45	chr4:1184548..1187736-chr4:1238018..1240467,3	MCF-7	breast:
46	chr11:62432567..62434148-chr4:1241541..1243058,2	MCF-7	breast:
47	chr4:1251988..1254188-chr4:1300555..1302807,2	K562	blood:
48	chr4:1240390..1245150-chr4:1578422..1582537,5	MCF-7	breast:
49	chr4:1253458..1255471-chr4:1281681..1283215,2	K562	blood:
50	chr4:1158166..1163360-chr4:1238498..1245354,13	MCF-7	breast:

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

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

No data

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

Extended variants
information (count: 632 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:632 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs730830	chr4:1240091-1240092	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs74856648	chr4:1240092-1240093	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
3	rs528465171	chr4:1240093-1240094	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
4	rs566857164	chr4:1240095-1240096	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
5	rs527647387	chr4:1240100-1240101	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
6	rs187067166	chr4:1240171-1240172	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
7	rs570757432	chr4:1240185-1240186	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
8	rs538170511	chr4:1240199-1240200	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
9	rs556068259	chr4:1240225-1240226	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
10	rs568212058	chr4:1240230-1240231	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
11	rs535311570	chr4:1240253-1240254	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
12	rs376384259	chr4:1240264-1240265	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
13	rs730831	chr4:1240299-1240300	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs571815210	chr4:1240330-1240331	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
15	rs545382238	chr4:1240336-1240337	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
16	rs557375228	chr4:1240387-1240388	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
17	rs577096911	chr4:1240388-1240389	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
18	rs544858268	chr4:1240393-1240394	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
19	rs563064586	chr4:1240424-1240425	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
20	rs900013	chr4:1240450-1240451	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs542069284	chr4:1240466-1240467	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
22	rs377012532	chr4:1240477-1240478	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
23	rs527836200	chr4:1240509-1240510	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
24	rs552583531	chr4:1240525-1240526	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
25	rs564507833	chr4:1240534-1240535	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
26	rs531752348	chr4:1240537-1240538	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
27	rs550021376	chr4:1240540-1240541	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
28	rs568266979	chr4:1240546-1240547	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
29	rs535596699	chr4:1240555-1240556	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
30	rs547315101	chr4:1240556-1240557	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
31	rs114893639	chr4:1240586-1240587	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
32	rs539172769	chr4:1240587-1240588	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
33	rs557313693	chr4:1240597-1240598	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
34	rs190697665	chr4:1240627-1240628	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
35	rs76010116	chr4:1240637-1240638	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
36	rs372826186	chr4:1240639-1240640	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
37	rs398063193	chr4:1240640-1240641	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
38	rs200131799	chr4:1240641-1240642	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
39	rs536649008	chr4:1240662-1240663	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
40	rs556777068	chr4:1240693-1240694	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
41	rs575073610	chr4:1240695-1240696	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
42	rs542406672	chr4:1240697-1240698	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
43	rs560696850	chr4:1240736-1240737	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
44	rs572556382	chr4:1240739-1240740	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
45	rs546284563	chr4:1240762-1240763	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
46	rs369586371	chr4:1240800-1240801	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
47	rs79804323	chr4:1240810-1240811	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
48	rs73069941	chr4:1240811-1240812	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs181674641	chr4:1240813-1240814	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
50	rs575619964	chr4:1240878-1240879	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	17 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:869 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1219000-1240200	Weak transcription	Hela-S3	cervix
2	chr4:1221600-1240200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr4:1222000-1240800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:1225000-1240200	Weak transcription	K562	blood
5	chr4:1229200-1240400	Weak transcription	Fetal Kidney	kidney
6	chr4:1230000-1240400	Weak transcription	HSMMtube	muscle
7	chr4:1233400-1240600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:1234600-1240400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:1234600-1240800	Genic enhancers	Spleen	Spleen
10	chr4:1235000-1240800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:1235000-1241200	Weak transcription	Aorta	Aorta
12	chr4:1235200-1240200	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr4:1235200-1240400	Enhancers	Liver	Liver
14	chr4:1235200-1240800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr4:1235400-1240200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr4:1235400-1240200	Enhancers	Left Ventricle	heart
17	chr4:1235400-1240600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr4:1235400-1240600	Genic enhancers	Fetal Muscle Leg	muscle
19	chr4:1235400-1240800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr4:1235400-1241000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr4:1235600-1240200	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr4:1235600-1240200	Enhancers	Right Ventricle	heart
23	chr4:1235600-1240400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr4:1235600-1240400	Genic enhancers	Fetal Muscle Trunk	muscle
25	chr4:1235600-1240600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr4:1235600-1240600	Enhancers	Right Atrium	heart
27	chr4:1235600-1241000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr4:1235600-1241000	Enhancers	Ovary	ovary
29	chr4:1235800-1240200	Enhancers	Adipose Nuclei	Adipose
30	chr4:1235800-1240200	Enhancers	Brain Substantia Nigra	brain
31	chr4:1235800-1240200	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr4:1235800-1240400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr4:1235800-1240400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr4:1235800-1240400	Enhancers	Stomach Mucosa	stomach
35	chr4:1235800-1240800	Enhancers	Brain Angular Gyrus	brain
36	chr4:1236000-1240200	Enhancers	Esophagus	oesophagus
37	chr4:1236000-1240600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr4:1236200-1240200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr4:1236200-1240200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
40	chr4:1236200-1240200	Enhancers	Brain Cingulate Gyrus	brain
41	chr4:1236200-1240600	Genic enhancers	Fetal Stomach	stomach
42	chr4:1236400-1240200	Enhancers	Colon Smooth Muscle	Colon
43	chr4:1236400-1240400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr4:1236400-1241000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr4:1236800-1240400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
46	chr4:1237000-1240400	Enhancers	Primary hematopoietic stem cells	blood
47	chr4:1237000-1240800	Genic enhancers	Gastric	stomach
48	chr4:1237000-1240800	Enhancers	Psoas Muscle	Psoas
49	chr4:1237000-1241800	Flanking Active TSS	Stomach Smooth Muscle	stomach
50	chr4:1237200-1240200	Enhancers	Primary B cells from cord blood	blood

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