Variant report

Variant	esv3338577
Chromosome Location	chr4:1240652-1245250
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:830)
CpG islands
(count:1160)
Chromatin interactive
region (count:71)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:830 , 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	chr4:1242986-1242997	HepG2	liver:	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	chr4:1241299-1241511	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr4:1241799-1243347	H1-hESC	embryonic stem cell:	n/a	n/a
9	BCLAF1	chr4:1242821-1243259	GM12878	blood:	n/a	n/a
10	BCLAF1	chr4:1243289-1243733	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	chr4:1243736-1244131	HepG2	liver:	n/a	n/a
14	BHLHE40	chr4:1242896-1243252	K562	blood:	n/a	n/a
15	BHLHE40	chr4:1241856-1242621	HepG2	liver:	n/a	chr4:1241963-1241979 chr4:1242087-1242103
16	BHLHE40	chr4:1241912-1242608	K562	blood:	n/a	chr4:1241963-1241979 chr4:1242087-1242103
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	CCNT2	chr4:1241770-1243561	K562	blood:	n/a	chr4:1242380-1242389
20	CCNT2	chr4:1241106-1241306	K562	blood:	n/a	n/a
21	CEBPB	chr4:1243700-1244072	HepG2	liver:	n/a	chr4:1243882-1243893 chr4:1243884-1243895
22	CEBPB	chr4:1243752-1244053	Hela-S3	cervix:	n/a	chr4:1243882-1243893 chr4:1243884-1243895
23	CEBPB	chr4:1242550-1242861	HepG2	liver:	n/a	n/a
24	CEBPB	chr4:1243753-1243954	HepG2	liver:	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	chr4:1243711-1244025	MCF-7	breast:	n/a	chr4:1243882-1243893 chr4:1243884-1243895
28	CEBPB	chr4:1242473-1242963	Hela-S3	cervix:	n/a	n/a
29	CEBPB	chr4:1242575-1242881	IMR90	lung:	n/a	n/a
30	CEBPB	chr4:1242708-1242753	K562	blood:	n/a	n/a
31	CEBPB	chr4:1242015-1243113	HepG2	liver:	n/a	n/a
32	CEBPB	chr4:1243763-1244032	H1-hESC	embryonic stem cell:	n/a	chr4:1243882-1243893 chr4:1243884-1243895
33	CEBPD	chr4:1242262-1243142	HepG2	liver:	n/a	n/a
34	CHD1	chr4:1240686-1241462	GM12878	blood:	n/a	n/a
35	CHD1	chr4:1243521-1243721	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD1	chr4:1241707-1242359	GM12878	blood:	n/a	chr4:1242276-1242286
37	CHD1	chr4:1243026-1243997	GM12878	blood:	n/a	n/a
38	CHD2	chr4:1242897-1244523	GM12878	blood:	n/a	n/a
39	CHD2	chr4:1241814-1242452	GM12878	blood:	n/a	chr4:1242276-1242286
40	CHD2	chr4:1243054-1243152	H1-hESC	embryonic stem cell:	n/a	n/a
41	CHD2	chr4:1241670-1242140	H1-hESC	embryonic stem cell:	n/a	n/a
42	CHD2	chr4:1241874-1242296	HepG2	liver:	n/a	chr4:1242276-1242286
43	CHD2	chr4:1241628-1242272	K562	blood:	n/a	n/a
44	CHD2	chr4:1240327-1241586	GM12878	blood:	n/a	n/a
45	CHD2	chr4:1241878-1242580	Hela-S3	cervix:	n/a	chr4:1242461-1242471 chr4:1242276-1242286
46	CHD2	chr4:1242901-1243441	Hela-S3	cervix:	n/a	n/a
47	CHD2	chr4:1243652-1243902	HepG2	liver:	n/a	n/a
48	CHD2	chr4:1241008-1241027	K562	blood:	n/a	n/a
49	CHD2	chr4:1242941-1243151	HepG2	liver:	n/a	n/a
50	CHD2	chr4:1243051-1243251	K562	blood:	n/a	n/a

(count:1160 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:1244086-1244136	SKMC	muscle:	n/a
2	chr4:1244086-1244136	SKMC	muscle:	n/a
3	chr4:1244006-1244056	HEEpiC	esophagus:	n/a
4	chr4:1243392-1243442	HAEpiC	amniotic membrane:	n/a
5	chr4:1244017-1244067	ovcar-3	ovarian:	n/a
6	chr4:1244042-1244092	AG09319	gingival:	n/a
7	chr4:1241188-1241238	NT2-D1	testis:	n/a
8	chr4:1243849-1243899	AG09319	gingival:	n/a
9	chr4:1242751-1242801	GM12892	blood:	n/a
10	chr4:1244360-1244410	HEK293	kidney:	embryo
11	chr4:1242411-1242461	Hela-S3	cervix:	n/a
12	chr4:1243392-1243442	HPAEpiC	pulmonary alveolar:	n/a
13	chr4:1242276-1242326	BJ	skin:	n/a
14	chr4:1244042-1244092	HCF	heart:	n/a
15	chr4:1244006-1244056	AG09309	skin:	n/a
16	chr4:1242276-1242326	HCPEpiC	choroid plexus:	n/a
17	chr4:1245206-1245256	NT2-D1	testis:	n/a
18	chr4:1244024-1244074	Jurkat	blood:	n/a
19	chr4:1242757-1242807	GM12891	blood:	n/a
20	chr4:1241727-1241777	SK-N-SH	brain:	n/a
21	chr4:1242757-1242807	NHBE	bronchial:	n/a
22	chr4:1241188-1241238	HRCEpiC	kidney:	n/a
23	chr4:1242411-1242461	BE2_C	brain:	n/a
24	chr4:1245021-1245071	Caco-2	colon:	n/a
25	chr4:1245021-1245071	T-47D	breast:	n/a
26	chr4:1242751-1242801	SK-N-SH	brain:	n/a
27	chr4:1243087-1243137	ECC-1	luminal epithelium:	n/a
28	chr4:1241727-1241777	BJ	skin:	n/a
29	chr4:1241188-1241238	PrEC	prostate:	n/a
30	chr4:1241188-1241238	GM19239	blood:	n/a
31	chr4:1244042-1244092	MCF-7	breast:	n/a
32	chr4:1244086-1244136	LNCaP	prostate:	n/a
33	chr4:1244086-1244136	ECC-1	luminal epithelium:	n/a
34	chr4:1242751-1242801	HepG2	liver:	n/a
35	chr4:1244042-1244092	PANC-1	pancreas:	n/a
36	chr4:1241188-1241238	Hela-S3	cervix:	n/a
37	chr4:1244360-1244410	IMR90	lung:	fetal
38	chr4:1244086-1244136	SK-N-SH	brain:	n/a
39	chr4:1244024-1244074	Hela-S3	cervix:	n/a
40	chr4:1245021-1245071	Hepatocyte	liver:	n/a
41	chr4:1244017-1244067	BJ	skin:	n/a
42	chr4:1242751-1242801	PrEC	prostate:	n/a
43	chr4:1245021-1245071	NB4	blood:	n/a
44	chr4:1242757-1242807	NH-A	brain:	n/a
45	chr4:1244024-1244074	HCT-116	colon:	n/a
46	chr4:1243087-1243137	GM19239	blood:	n/a
47	chr4:1244360-1244410	K562	blood:	n/a
48	chr4:1244006-1244056	HMEC	breast:	n/a
49	chr4:1244504-1244554	Jurkat	blood:	n/a
50	chr4:1244024-1244074	CMK	blood:	n/a

(count:71 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr20:47894742..47895294-chr4:1241968..1242662,2	Hela-S3	cervix:
2	chr4:1159747..1163015-chr4:1240558..1244483,3	K562	blood:
3	chr1:151817465..151820219-chr4:1240046..1241546,2	MCF-7	breast:
4	chr4:1242036..1244791-chr4:1580291..1583222,3	MCF-7	breast:
5	chr4:1242535..1243295-chr4:1339796..1341533,6	NB4	blood:
6	chr12:7052897..7053630-chr4:1242466..1243112,2	HCT-116	colon:
7	chr4:1239325..1241522-chr4:1343447..1345640,2	K562	blood:
8	chr15:90808545..90809368-chr4:1242287..1242851,2	Hela-S3	cervix:
9	chr4:986510..988350-chr4:1240959..1243694,2	MCF-7	breast:
10	chr4:1020274..1022764-chr4:1238213..1242920,4	MCF-7	breast:
11	chr4:1238043..1241970-chr4:1281719..1285287,6	MCF-7	breast:
12	chr4:1121885..1124644-chr4:1239644..1241550,2	MCF-7	breast:
13	chr4:1215555..1220351-chr4:1239288..1242893,7	K562	blood:
14	chr12:6977980..6980393-chr4:1240474..1243068,2	MCF-7	breast:
15	chr4:1240390..1245150-chr4:1578422..1582537,5	MCF-7	breast:
16	chr4:1142514..1145503-chr4:1240960..1243114,2	K562	blood:
17	chr4:990681..994690-chr4:1238010..1243594,6	MCF-7	breast:
18	chr4:1013317..1015069-chr4:1239149..1240689,2	K562	blood:
19	chr17:57915852..57918679-chr4:1239651..1241849,2	MCF-7	breast:
20	chr20:58514614..58517164-chr4:1239495..1242214,2	MCF-7	breast:
21	chr22:19753378..19753923-chr4:1241674..1242389,2	HCT-116	colon:
22	chr4:1005389..1007539-chr4:1241239..1243031,2	K562	blood:
23	chr11:65188897..65190954-chr4:1242152..1244163,2	MCF-7	breast:
24	chr4:1005389..1008246-chr4:1241169..1243031,3	K562	blood:
25	chr4:1238004..1246805-chr4:1279798..1288475,25	K562	blood:
26	chr11:62432567..62434148-chr4:1241541..1243058,2	MCF-7	breast:
27	chr4:1240883..1245378-chr4:1339091..1342291,13	K562	blood:
28	chr4:1239502..1245378-chr4:1336996..1344860,21	K562	blood:
29	chr4:1207048..1210414-chr4:1237792..1241348,3	K562	blood:
30	chr4:926176..927850-chr4:1242051..1244022,2	K562	blood:
31	chr4:1238004..1248980-chr4:1275065..1286840,30	K562	blood:
32	chr4:1002287..1006934-chr4:1240837..1243326,5	MCF-7	breast:
33	chr4:1209959..1212251-chr4:1238476..1240905,2	MCF-7	breast:
34	chr4:1201438..1204113-chr4:1239051..1243365,5	MCF-7	breast:
35	chr4:1051885..1054795-chr4:1239634..1242106,2	MCF-7	breast:
36	chr4:1240362..1242023-chr4:1330911..1332884,2	MCF-7	breast:
37	chr4:1075158..1077915-chr4:1242318..1244508,3	MCF-7	breast:
38	chr2:24583028..24583942-chr4:1242444..1242984,2	Hela-S3	cervix:
39	chr11:10324322..10325309-chr4:1241810..1242369,2	Hela-S3	cervix:
40	chr4:1235141..1249133-chr4:1336906..1347308,118	MCF-7	breast:
41	chr4:1241391..1244102-chr4:1870513..1873994,3	MCF-7	breast:
42	chr12:109124373..109125308-chr4:1242591..1243335,2	Hela-S3	cervix:
43	chr4:1242011..1244764-chr6:161122775..161125242,2	MCF-7	breast:
44	chr4:1217670..1219491-chr4:1243014..1244747,2	K562	blood:
45	chr4:1066453..1068289-chr4:1240208..1241974,2	MCF-7	breast:
46	chr4:1189059..1190794-chr4:1239654..1242349,2	K562	blood:
47	chr4:925435..927433-chr4:1239888..1241441,2	MCF-7	breast:
48	chr4:1218830..1221524-chr4:1242783..1244802,2	MCF-7	breast:
49	chr4:1241603..1244374-chr4:1357960..1359883,2	MCF-7	breast:
50	chr4:1236833..1250005-chr4:1276188..1292579,54	MCF-7	breast:

(count:13 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C4orf42-1	chr4:1243466-1243490	NONHSAT094690
2	lnc-C4orf42-1	chr4:1243496-1244138	NONHSAT094691
3	lnc-C4orf42-1	chr4:1244684-1246358	NONHSAT094691
4	lnc-C4orf42-1	chr4:1244684-1246110	NONHSAT094689
5	lnc-C4orf42-1	chr4:1243899-1246795	NONHSAT094687
6	lnc-C4orf42-1	chr4:1244047-1249698	ENSG00000196810.4
7	lnc-C4orf42-1	chr4:1243228-1243260	NONHSAT094687
8	lnc-C4orf42-1	chr4:1243898-1244138	ENSG00000196810.4
9	lnc-C4orf42-1	chr4:1244684-1244975	ENSG00000196810.4
10	lnc-C4orf42-1	chr4:1243294-1243490	NONHSAT094689
11	lnc-C4orf42-1	chr4:1244314-1245224	ENSG00000196810.4
12	lnc-C4orf42-1	chr4:1243899-1246244	NONHSAT094690
13	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
ENSG00000136940	chromatin interactions
ENSG00000199347	chromatin interactions
ENSG00000250259	chromatin interactions
ENSG00000215367	chromatin interactions
ENSG00000145217	chromatin interactions
ENSG00000132825	chromatin interactions
ENSG00000198918	chromatin interactions
ENSG00000109685	chromatin interactions
ENSG00000273179	chromatin interactions
ENSG00000238923	chromatin interactions
ENSG00000198399	chromatin interactions
ENSG00000124201	chromatin interactions
ENSG00000227189	chromatin interactions
ENSG00000178222	chromatin interactions
ENSG00000245532	chromatin interactions
ENSG00000178950	chromatin interactions
ENSG00000159674	chromatin interactions
ENSG00000127419	chromatin interactions
ENSG00000182768	chromatin interactions
ENSG00000122194	chromatin interactions
ENSG00000254554	chromatin interactions
ENSG00000090316	chromatin interactions
ENSG00000204713	chromatin interactions
ENSG00000199004	chromatin interactions
ENSG00000068078	chromatin interactions
ENSG00000214756	chromatin interactions
ENSG00000162194	chromatin interactions
ENSG00000244459	chromatin interactions
ENSG00000110880	chromatin interactions
ENSG00000159692	chromatin interactions
ENSG00000127418	chromatin interactions
ENSG00000177410	chromatin interactions
ENSG00000111678	chromatin interactions
ENSG00000127415	chromatin interactions
ENSG00000206597	chromatin interactions
ENSG00000196227	chromatin interactions
ENSG00000111669	chromatin interactions
ENSG00000251652	chromatin interactions
ENSG00000163945	chromatin interactions
ENSG00000255432	chromatin interactions
ENSG00000240455	chromatin interactions

Extended variants
information (count: 213 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:213 , 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	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	rs569177604	chr4:1240908-1240909	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
14	rs1250093	chr4:1240911-1240912	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	mRNA abundance
15	rs565570248	chr4:1240918-1240919	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
16	rs539273519	chr4:1240925-1240926	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
17	rs3775092	chr4:1240962-1240963	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs569423951	chr4:1240981-1240982	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
19	rs537043460	chr4:1240993-1240994	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
20	rs555117181	chr4:1241091-1241092	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
21	rs575056081	chr4:1241137-1241138	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
22	rs116625023	chr4:1241189-1241190	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
23	rs554522142	chr4:1241196-1241197	Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
24	rs572648867	chr4:1241219-1241220	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
25	rs546423281	chr4:1241226-1241227	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
26	rs368989390	chr4:1241245-1241246	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
27	rs536850349	chr4:1241248-1241249	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
28	rs373166546	chr4:1241249-1241250	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
29	rs576500724	chr4:1241329-1241330	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
30	rs543794277	chr4:1241331-1241332	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
31	rs561965199	chr4:1241338-1241339	Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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
45	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
46	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
47	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
48	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
49	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
50	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

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:646 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1222000-1240800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr4:1234600-1240800	Genic enhancers	Spleen	Spleen
3	chr4:1235000-1240800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:1235000-1241200	Weak transcription	Aorta	Aorta
5	chr4:1235200-1240800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:1235400-1240800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr4:1235400-1241000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr4:1235600-1241000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr4:1235600-1241000	Enhancers	Ovary	ovary
10	chr4:1235800-1240800	Enhancers	Brain Angular Gyrus	brain
11	chr4:1236400-1241000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr4:1237000-1240800	Genic enhancers	Gastric	stomach
13	chr4:1237000-1240800	Enhancers	Psoas Muscle	Psoas
14	chr4:1237000-1241800	Flanking Active TSS	Stomach Smooth Muscle	stomach
15	chr4:1237200-1240800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr4:1237800-1240800	Enhancers	Lung	lung
17	chr4:1238000-1241400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr4:1238400-1241400	Flanking Active TSS	Pancreas	Pancrea
19	chr4:1238800-1241200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:1239200-1241000	Enhancers	Small Intestine	intestine
21	chr4:1239400-1240800	Enhancers	Fetal Brain Male	brain
22	chr4:1239400-1240800	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr4:1239400-1241400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:1239400-1241600	Flanking Active TSS	Colonic Mucosa	Colon
25	chr4:1239600-1240800	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr4:1239600-1241400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr4:1239600-1241600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr4:1239800-1241000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:1239800-1241000	Flanking Active TSS	GM12878-XiMat	blood
30	chr4:1239800-1241200	Transcr. at gene 5' and 3'	NHEK	skin
31	chr4:1239800-1241400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr4:1239800-1241400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
33	chr4:1239800-1241400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
34	chr4:1239800-1241400	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr4:1239800-1241800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
36	chr4:1239800-1241800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr4:1239800-1242000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr4:1240000-1240800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr4:1240000-1240800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr4:1240000-1241200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:1240000-1241200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr4:1240000-1241400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr4:1240000-1241400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
44	chr4:1240000-1241400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr4:1240000-1241400	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr4:1240000-1241400	Flanking Active TSS	Fetal Brain Female	brain
47	chr4:1240000-1241400	Flanking Active TSS	Rectal Smooth Muscle	rectum
48	chr4:1240000-1241400	Flanking Active TSS	HMEC	breast
49	chr4:1240000-1241400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr4:1240000-1241600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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