Variant report

Variant	nsv593294
Chromosome Location	chr4:1242592-1243775
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:490)
CpG islands
(count:244)
Chromatin interactive
region (count:52)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:490 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

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	BACH1	chr4:1241799-1243347	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCLAF1	chr4:1243289-1243733	GM12878	blood:	n/a	n/a
6	BCLAF1	chr4:1242821-1243259	GM12878	blood:	n/a	n/a
7	BHLHE40	chr4:1241856-1242621	HepG2	liver:	n/a	chr4:1241963-1241979 chr4:1242087-1242103
8	BHLHE40	chr4:1242896-1243252	K562	blood:	n/a	n/a
9	BHLHE40	chr4:1241762-1244280	GM12878	blood:	n/a	chr4:1241963-1241979 chr4:1242087-1242103 chr4:1242757-1242773
10	BHLHE40	chr4:1241912-1242608	K562	blood:	n/a	chr4:1241963-1241979 chr4:1242087-1242103
11	BHLHE40	chr4:1243736-1244131	HepG2	liver:	n/a	n/a
12	CCNT2	chr4:1241770-1243561	K562	blood:	n/a	chr4:1242380-1242389
13	CEBPB	chr4:1243714-1244048	IMR90	lung:	n/a	chr4:1243882-1243893 chr4:1243884-1243895
14	CEBPB	chr4:1242708-1242753	K562	blood:	n/a	n/a
15	CEBPB	chr4:1243752-1244053	Hela-S3	cervix:	n/a	chr4:1243882-1243893 chr4:1243884-1243895
16	CEBPB	chr4:1242550-1242861	HepG2	liver:	n/a	n/a
17	CEBPB	chr4:1243753-1243954	HepG2	liver:	n/a	chr4:1243882-1243893 chr4:1243884-1243895
18	CEBPB	chr4:1242575-1242881	IMR90	lung:	n/a	n/a
19	CEBPB	chr4:1243763-1244032	H1-hESC	embryonic stem cell:	n/a	chr4:1243882-1243893 chr4:1243884-1243895
20	CEBPB	chr4:1242015-1243113	HepG2	liver:	n/a	n/a
21	CEBPB	chr4:1242473-1242963	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr4:1243710-1244077	K562	blood:	n/a	chr4:1243882-1243893 chr4:1243884-1243895
23	CEBPB	chr4:1243700-1244072	HepG2	liver:	n/a	chr4:1243882-1243893 chr4:1243884-1243895
24	CEBPB	chr4:1243711-1244025	MCF-7	breast:	n/a	chr4:1243882-1243893 chr4:1243884-1243895
25	CEBPD	chr4:1242262-1243142	HepG2	liver:	n/a	n/a
26	CHD1	chr4:1243026-1243997	GM12878	blood:	n/a	n/a
27	CHD1	chr4:1243521-1243721	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD2	chr4:1243054-1243152	H1-hESC	embryonic stem cell:	n/a	n/a
29	CHD2	chr4:1243652-1243902	HepG2	liver:	n/a	n/a
30	CHD2	chr4:1242901-1243441	Hela-S3	cervix:	n/a	n/a
31	CHD2	chr4:1242941-1243151	HepG2	liver:	n/a	n/a
32	CHD2	chr4:1242897-1244523	GM12878	blood:	n/a	n/a
33	CHD2	chr4:1243051-1243251	K562	blood:	n/a	n/a
34	CREB1	chr4:1241942-1242604	A549	lung:	n/a	n/a
35	CREB1	chr4:1241759-1244538	HepG2	liver:	n/a	n/a
36	CREB1	chr4:1242650-1243456	A549	lung:	n/a	n/a
37	CTBP2	chr4:1243074-1243958	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr4:1243440-1243590	HCM	heart:	n/a	n/a
39	CTCF	chr4:1243580-1243730	BJ	skin:	n/a	n/a
40	CTCF	chr4:1243380-1243530	HMEC	breast:	n/a	n/a
41	CTCF	chr4:1243360-1243510	GM06990	blood:	n/a	n/a
42	CTCF	chr4:1243420-1243570	GM12867	blood:	n/a	n/a
43	CTCF	chr4:1243420-1243570	GM12874	blood:	n/a	n/a
44	CTCF	chr4:1243438-1243566	GM12892	blood:	n/a	n/a
45	CTCF	chr4:1243408-1243593	GM12891	blood:	n/a	n/a
46	CTCF	chr4:1243620-1243770	GM12872	blood:	n/a	n/a
47	CTCF	chr4:1243455-1243567	K562	blood:	n/a	n/a
48	CTCF	chr4:1243440-1243590	GM12869	blood:	n/a	n/a
49	CTCF	chr4:1243500-1243650	GM12875	blood:	n/a	n/a
50	CTCF	chr4:1243460-1243541	NHEK	skin:	n/a	n/a

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:1243087-1243137	SK-N-MC	brain:	n/a
2	chr4:1242757-1242807	GM12892	blood:	n/a
3	chr4:1242751-1242801	AG04449	skin:	fetal
4	chr4:1243087-1243137	HMEC	breast:	n/a
5	chr4:1242757-1242807	Caco-2	colon:	n/a
6	chr4:1243087-1243137	ProgFib	skin:	n/a
7	chr4:1242751-1242801	HEEpiC	esophagus:	n/a
8	chr4:1243087-1243137	PrEC	prostate:	n/a
9	chr4:1242751-1242801	IMR90	lung:	fetal
10	chr4:1243392-1243442	HEEpiC	esophagus:	n/a
11	chr4:1243392-1243442	SKMC	muscle:	n/a
12	chr4:1242751-1242801	GM12891	blood:	n/a
13	chr4:1242757-1242807	HRCEpiC	kidney:	n/a
14	chr4:1242751-1242801	HNPCEpiC	eye:	n/a
15	chr4:1243392-1243442	GM06990	blood:	n/a
16	chr4:1243087-1243137	NHDF-neo	bronchial:	n/a
17	chr4:1242751-1242801	HMEC	breast:	n/a
18	chr4:1243087-1243137	NH-A	brain:	n/a
19	chr4:1242751-1242801	SKMC	muscle:	n/a
20	chr4:1242757-1242807	SK-N-MC	brain:	n/a
21	chr4:1242751-1242801	CMK	blood:	n/a
22	chr4:1242757-1242807	ProgFib	skin:	n/a
23	chr4:1243392-1243442	GM12892	blood:	n/a
24	chr4:1243392-1243442	HCT-116	colon:	n/a
25	chr4:1243392-1243442	A549	lung:	n/a
26	chr4:1242751-1242801	H1-hESC	embryonic stem cell:	embryo
27	chr4:1242751-1242801	AG09309	skin:	n/a
28	chr4:1243087-1243137	U87	brain:	n/a
29	chr4:1243087-1243137	RPTEC	kidney:	n/a
30	chr4:1243392-1243442	NHBE	bronchial:	n/a
31	chr4:1242757-1242807	AG09309	skin:	n/a
32	chr4:1243392-1243442	SAEC	small airway:	n/a
33	chr4:1243087-1243137	HAEpiC	amniotic membrane:	n/a
34	chr4:1243087-1243137	ECC-1	luminal epithelium:	n/a
35	chr4:1243087-1243137	H1-hESC	embryonic stem cell:	embryo
36	chr4:1242751-1242801	LNCaP	prostate:	n/a
37	chr4:1242751-1242801	HPAEpiC	pulmonary alveolar:	n/a
38	chr4:1242757-1242807	HL-60	blood:	n/a
39	chr4:1242751-1242801	NHBE	bronchial:	n/a
40	chr4:1243087-1243137	Caco-2	colon:	n/a
41	chr4:1243392-1243442	BJ	skin:	n/a
42	chr4:1243392-1243442	GM12891	blood:	n/a
43	chr4:1242751-1242801	PANC-1	pancreas:	n/a
44	chr4:1242751-1242801	HL-60	blood:	n/a
45	chr4:1243087-1243137	SAEC	small airway:	n/a
46	chr4:1243087-1243137	HUVEC	blood vessel:	n/a
47	chr4:1242751-1242801	MCF10A-Er-Src	breast:	n/a
48	chr4:1242751-1242801	Jurkat	blood:	n/a
49	chr4:1243087-1243137	AG09309	skin:	n/a
50	chr4:1242751-1242801	NH-A	brain:	n/a

(count:52 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:7052897..7053630-chr4:1242466..1243112,2	HCT-116	colon:
2	chr4:1240390..1245150-chr4:1578422..1582537,5	MCF-7	breast:
3	chr4:1216435..1221821-chr4:1240439..1244617,5	MCF-7	breast:
4	chr4:1242091..1248517-chr4:1279714..1285424,16	MCF-7	breast:
5	chr4:1242623..1243687-chr4:1339944..1341149,3	MCF-7	breast:
6	chr4:1236833..1250005-chr4:1276188..1292579,54	MCF-7	breast:
7	chr4:1005389..1007539-chr4:1241239..1243031,2	K562	blood:
8	chr4:1159229..1162099-chr4:1242725..1245069,2	K562	blood:
9	chr4:990681..994690-chr4:1238010..1243594,6	MCF-7	breast:
10	chr4:1242456..1244235-chr4:1794617..1797238,2	MCF-7	breast:
11	chr4:1235141..1249133-chr4:1336906..1347308,118	MCF-7	breast:
12	chr4:1003725..1006599-chr4:1238644..1243840,5	MCF-7	breast:
13	chr1:11968198..11969063-chr4:1242972..1243738,2	Hela-S3	cervix:
14	chr4:1218830..1221524-chr4:1242783..1244802,2	MCF-7	breast:
15	chr4:1242036..1244791-chr4:1580291..1583222,3	MCF-7	breast:
16	chr4:1242535..1243295-chr4:1339796..1341533,6	NB4	blood:
17	chr4:926176..927850-chr4:1242051..1244022,2	K562	blood:
18	chr4:1159747..1163015-chr4:1240558..1244483,3	K562	blood:
19	chr4:1242011..1244764-chr6:161122775..161125242,2	MCF-7	breast:
20	chr12:109124373..109125308-chr4:1242591..1243335,2	Hela-S3	cervix:
21	chr4:1243202..1244078-chrX:118925366..118926206,2	Hela-S3	cervix:
22	chr4:1241391..1244102-chr4:1870513..1873994,3	MCF-7	breast:
23	chr15:90808545..90809368-chr4:1242287..1242851,2	Hela-S3	cervix:
24	chr4:1145908..1147956-chr4:1241044..1242592,2	MCF-7	breast:
25	chr4:1242022..1242890-chr6:28891676..28892308,2	NB4	blood:
26	chr4:1075158..1077915-chr4:1242318..1244508,3	MCF-7	breast:
27	chr4:1239502..1245378-chr4:1336996..1344860,21	K562	blood:
28	chr4:986510..988350-chr4:1240959..1243694,2	MCF-7	breast:
29	chr11:62432567..62434148-chr4:1241541..1243058,2	MCF-7	breast:
30	chr12:6977980..6980393-chr4:1240474..1243068,2	MCF-7	breast:
31	chr4:1236808..1249320-chr4:1336333..1343819,66	MCF-7	breast:
32	chr4:1207031..1209440-chr4:1241875..1243998,2	K562	blood:
33	chr4:1020274..1022764-chr4:1238213..1242920,4	MCF-7	breast:
34	chr2:24583028..24583942-chr4:1242444..1242984,2	Hela-S3	cervix:
35	chr4:1207031..1209938-chr4:1240960..1243998,4	K562	blood:
36	chr4:1241603..1244374-chr4:1357960..1359883,2	MCF-7	breast:
37	chr20:47894742..47895294-chr4:1241968..1242662,2	Hela-S3	cervix:
38	chr4:1103766..1108037-chr4:1241801..1244610,3	K562	blood:
39	chr4:1238004..1248980-chr4:1275065..1286840,30	K562	blood:
40	chr4:1158166..1163360-chr4:1238498..1245354,13	MCF-7	breast:
41	chr4:1215555..1220351-chr4:1239288..1242893,7	K562	blood:
42	chr4:1002287..1006934-chr4:1240837..1243326,5	MCF-7	breast:
43	chr4:1198322..1201004-chr4:1242228..1244589,3	K562	blood:
44	chr4:1217670..1219491-chr4:1243014..1244747,2	K562	blood:
45	chr4:1005389..1008246-chr4:1241169..1243031,3	K562	blood:
46	chr4:1240883..1245378-chr4:1339091..1342291,13	K562	blood:
47	chr4:1201438..1204113-chr4:1239051..1243365,5	MCF-7	breast:
48	chr11:65188897..65190954-chr4:1242152..1244163,2	MCF-7	breast:
49	chr4:1241391..1244976-chr4:1289369..1292052,3	MCF-7	breast:
50	chr4:1242705..1243544-chr9:125590357..125590943,2	Hela-S3	cervix:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C4orf42-1	chr4:1243496-1244138	NONHSAT094691
2	lnc-C4orf42-1	chr4:1243294-1243490	NONHSAT094689
3	lnc-C4orf42-1	chr4:1243228-1243260	NONHSAT094687
4	lnc-C4orf42-1	chr4:1243466-1243490	NONHSAT094690

No data

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

Extended variants
information (count: 37 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541026437	chr4:1242710-1242711	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
2	rs552980156	chr4:1242714-1242715	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
3	rs190605405	chr4:1242832-1242833	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
4	rs577500903	chr4:1242909-1242910	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
5	rs544869885	chr4:1242988-1242989	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
6	rs112869142	chr4:1243006-1243007	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	mRNA abundance
7	rs575300137	chr4:1243090-1243091	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
8	rs542815879	chr4:1243149-1243150	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
9	rs80141110	chr4:1243164-1243165	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	mRNA abundance
10	rs528241269	chr4:1243167-1243168	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
11	rs546595167	chr4:1243168-1243169	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
12	rs564905732	chr4:1243171-1243172	Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
13	rs532159321	chr4:1243236-1243237	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	23 gene(s)	Overlapped CNVs	n/a
14	rs142904753	chr4:1243279-1243280	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
15	rs375027303	chr4:1243280-1243281	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
16	rs551756898	chr4:1243285-1243286	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
17	rs570339494	chr4:1243298-1243299	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	23 gene(s)	Overlapped CNVs	n/a
18	rs79746330	chr4:1243329-1243330	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	23 gene(s)	Overlapped CNVs	mRNA abundance
19	rs144506972	chr4:1243346-1243347	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
20	rs567402568	chr4:1243369-1243370	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
21	rs1732113	chr4:1243388-1243389	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
22	rs534825520	chr4:1243389-1243390	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
23	rs553066119	chr4:1243397-1243398	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
24	rs1680033	chr4:1243404-1243405	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs535511093	chr4:1243491-1243492	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
26	rs539028072	chr4:1243494-1243495	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	22 gene(s)	Overlapped CNVs	n/a
27	rs556935095	chr4:1243528-1243529	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
28	rs575534132	chr4:1243543-1243544	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
29	rs542454128	chr4:1243569-1243570	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
30	rs1680032	chr4:1243573-1243574	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	21 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs372550396	chr4:1243578-1243579	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	21 gene(s)	Overlapped CNVs	n/a
32	rs3755920	chr4:1243617-1243618	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	20 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs148436450	chr4:1243674-1243675	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	20 gene(s)	Overlapped CNVs	n/a
34	rs532095685	chr4:1243696-1243697	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
35	rs546458356	chr4:1243724-1243725	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
36	rs548525682	chr4:1243764-1243765	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
37	rs3755919	chr4:1243775-1243776	Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	18 gene(s)	LD-proxies of rSNP Overlapped rCNV	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:223 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1240400-1243800	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr4:1240400-1244200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr4:1240800-1243600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:1240800-1243600	Active TSS	HSMMtube	muscle
5	chr4:1241000-1243600	Active TSS	A549	lung
6	chr4:1241000-1244000	Active TSS	H9 Cell Line	embryonic stem cell
7	chr4:1241000-1244200	Active TSS	Ovary	ovary
8	chr4:1241200-1243400	Active TSS	NHLF	lung
9	chr4:1241200-1243600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:1241200-1243600	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr4:1241200-1243600	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr4:1241200-1243600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:1241200-1243600	Active TSS	Primary T cells from cord blood	blood
14	chr4:1241200-1243600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
15	chr4:1241200-1243600	Active TSS	Sigmoid Colon	Sigmoid Colon
16	chr4:1241200-1243600	Active TSS	Hela-S3	cervix
17	chr4:1241200-1243800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr4:1241200-1243800	Active TSS	Aorta	Aorta
19	chr4:1241200-1243800	Active TSS	Brain Angular Gyrus	brain
20	chr4:1241200-1243800	Active TSS	Brain Anterior Caudate	brain
21	chr4:1241200-1243800	Active TSS	Colon Smooth Muscle	Colon
22	chr4:1241200-1243800	Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr4:1241200-1243800	Active TSS	Lung	lung
24	chr4:1241200-1243800	Active TSS	HepG2	liver
25	chr4:1241200-1243800	Active TSS	NHDF-Ad	bronchial
26	chr4:1241200-1244000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:1241200-1244000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:1241200-1244000	Active TSS	Right Atrium	heart
29	chr4:1241200-1244000	Active TSS	HSMM	muscle
30	chr4:1241200-1244200	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr4:1241400-1242600	Active TSS	Placenta	Placenta
32	chr4:1241400-1243200	Active TSS	HMEC	breast
33	chr4:1241400-1243400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr4:1241400-1243400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr4:1241400-1243400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:1241400-1243400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr4:1241400-1243400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr4:1241400-1243400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr4:1241400-1243400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr4:1241400-1243400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr4:1241400-1243400	Active TSS	Fetal Muscle Trunk	muscle
42	chr4:1241400-1243400	Active TSS	Rectal Mucosa Donor 31	rectum
43	chr4:1241400-1243400	Active TSS	HUVEC	blood vessel
44	chr4:1241400-1243400	Active TSS	Monocytes-CD14+_RO01746	blood
45	chr4:1241400-1243600	Active TSS	H1 Cell Line	embryonic stem cell
46	chr4:1241400-1243600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr4:1241400-1243600	Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr4:1241400-1243600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr4:1241400-1243600	Active TSS	Primary B cells from peripheral blood	blood
50	chr4:1241400-1243600	Active TSS	Primary T helper naive cells from peripheral blood	blood

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