Variant report

Variant	esv1819955
Chromosome Location	chr4:1241752-1243286
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:581)
CpG islands
(count:366)
Chromatin interactive
region (count:62)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:581 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

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	ATF2	chr4:1241945-1242234	GM12878	blood:	n/a	n/a
4	ATF3	chr4:1242368-1242575	K562	blood:	n/a	n/a
5	BACH1	chr4:1241799-1243347	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCLAF1	chr4:1242263-1242556	GM12878	blood:	n/a	chr4:1242402-1242415 chr4:1242292-1242305 chr4:1242456-1242469
7	BCLAF1	chr4:1242821-1243259	GM12878	blood:	n/a	n/a
8	BHLHE40	chr4:1241762-1244280	GM12878	blood:	n/a	chr4:1241963-1241979 chr4:1242087-1242103 chr4:1242757-1242773
9	BHLHE40	chr4:1242896-1243252	K562	blood:	n/a	n/a
10	BHLHE40	chr4:1241856-1242621	HepG2	liver:	n/a	chr4:1241963-1241979 chr4:1242087-1242103
11	BHLHE40	chr4:1241912-1242608	K562	blood:	n/a	chr4:1241963-1241979 chr4:1242087-1242103
12	CCNT2	chr4:1241770-1243561	K562	blood:	n/a	chr4:1242380-1242389
13	CEBPB	chr4:1242550-1242861	HepG2	liver:	n/a	n/a
14	CEBPB	chr4:1242575-1242881	IMR90	lung:	n/a	n/a
15	CEBPB	chr4:1242015-1243113	HepG2	liver:	n/a	n/a
16	CEBPB	chr4:1242708-1242753	K562	blood:	n/a	n/a
17	CEBPB	chr4:1242473-1242963	Hela-S3	cervix:	n/a	n/a
18	CEBPD	chr4:1242262-1243142	HepG2	liver:	n/a	n/a
19	CHD1	chr4:1241707-1242359	GM12878	blood:	n/a	chr4:1242276-1242286
20	CHD1	chr4:1243026-1243997	GM12878	blood:	n/a	n/a
21	CHD2	chr4:1242941-1243151	HepG2	liver:	n/a	n/a
22	CHD2	chr4:1241628-1242272	K562	blood:	n/a	n/a
23	CHD2	chr4:1241814-1242452	GM12878	blood:	n/a	chr4:1242276-1242286
24	CHD2	chr4:1243054-1243152	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD2	chr4:1243051-1243251	K562	blood:	n/a	n/a
26	CHD2	chr4:1242901-1243441	Hela-S3	cervix:	n/a	n/a
27	CHD2	chr4:1241670-1242140	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD2	chr4:1241878-1242580	Hela-S3	cervix:	n/a	chr4:1242461-1242471 chr4:1242276-1242286
29	CHD2	chr4:1242897-1244523	GM12878	blood:	n/a	n/a
30	CHD2	chr4:1241874-1242296	HepG2	liver:	n/a	chr4:1242276-1242286
31	CREB1	chr4:1242650-1243456	A549	lung:	n/a	n/a
32	CREB1	chr4:1241759-1244538	HepG2	liver:	n/a	n/a
33	CREB1	chr4:1241942-1242604	A549	lung:	n/a	n/a
34	CTBP2	chr4:1241939-1242313	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTBP2	chr4:1243074-1243958	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr4:1241800-1241950	GM12869	blood:	n/a	n/a
37	CTCF	chr4:1242913-1242918	Spleen_OC	spleen:	n/a	n/a
38	CTCF	chr4:1241860-1242010	AG04449	skin:	n/a	n/a
39	CTCF	chr4:1241820-1241970	GM12865	blood:	n/a	n/a
40	CTCF	chr4:1242919-1243120	Spleen_OC	spleen:	n/a	n/a
41	CTCF	chr4:1241740-1241890	AG09319	gingival:	n/a	n/a
42	CTCF	chr4:1242092-1242243	Spleen_OC	spleen:	n/a	chr4:1242210-1242223
43	CTCF	chr4:1241974-1242107	GM19240	blood:	n/a	chr4:1242091-1242104 chr4:1242016-1242029
44	CTCF	chr4:1241640-1241790	HBMEC	blood vessel:	n/a	n/a
45	CTCF	chr4:1241920-1242070	GM12871	blood:	n/a	chr4:1242016-1242029
46	CTCF	chr4:1242003-1242017	GM12891	blood:	n/a	n/a
47	CTCF	chr4:1241950-1242135	GM12878	blood:	n/a	chr4:1242091-1242104 chr4:1242016-1242029
48	CTCF	chr4:1241761-1241790	K562	blood:	n/a	n/a
49	CTCF	chr4:1241975-1242046	GM19239	blood:	n/a	chr4:1242016-1242029
50	CTCF	chr4:1242018-1242086	GM12891	blood:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:1242276-1242326	Caco-2	colon:	n/a
2	chr4:1242411-1242461	MCF10A-Er-Src	breast:	n/a
3	chr4:1242757-1242807	SK-N-SH	brain:	n/a
4	chr4:1243087-1243137	BE2_C	brain:	n/a
5	chr4:1242751-1242801	HAEpiC	amniotic membrane:	n/a
6	chr4:1242757-1242807	ovcar-3	ovarian:	n/a
7	chr4:1242276-1242326	U87	brain:	n/a
8	chr4:1243087-1243137	HMEC	breast:	n/a
9	chr4:1242276-1242326	ovcar-3	ovarian:	n/a
10	chr4:1243087-1243137	HPAEpiC	pulmonary alveolar:	n/a
11	chr4:1243087-1243137	HCT-116	colon:	n/a
12	chr4:1242276-1242326	A549	lung:	n/a
13	chr4:1242276-1242326	K562	blood:	n/a
14	chr4:1242751-1242801	AG10803	skin:	n/a
15	chr4:1242276-1242326	GM12891	blood:	n/a
16	chr4:1242751-1242801	H1-hESC	embryonic stem cell:	embryo
17	chr4:1242411-1242461	ProgFib	skin:	n/a
18	chr4:1241727-1241777	Hela-S3	cervix:	n/a
19	chr4:1243087-1243137	NHDF-neo	bronchial:	n/a
20	chr4:1242757-1242807	K562	blood:	n/a
21	chr4:1242411-1242461	A549	lung:	n/a
22	chr4:1242411-1242461	LNCaP	prostate:	n/a
23	chr4:1242276-1242326	GM12878	blood:	n/a
24	chr4:1242276-1242326	IMR90	lung:	fetal
25	chr4:1241727-1241777	SK-N-SH_RA	brain:	n/a
26	chr4:1242751-1242801	IMR90	lung:	fetal
27	chr4:1242276-1242326	Jurkat	blood:	n/a
28	chr4:1241727-1241777	GM12891	blood:	n/a
29	chr4:1243087-1243137	HNPCEpiC	eye:	n/a
30	chr4:1242757-1242807	HL-60	blood:	n/a
31	chr4:1242276-1242326	PFSK-1	brain:	n/a
32	chr4:1242757-1242807	SAEC	small airway:	n/a
33	chr4:1242751-1242801	GM12878	blood:	n/a
34	chr4:1243087-1243137	AG09309	skin:	n/a
35	chr4:1241727-1241777	GM12892	blood:	n/a
36	chr4:1242411-1242461	GM12891	blood:	n/a
37	chr4:1242757-1242807	HRPEpiC	eye:	n/a
38	chr4:1242276-1242326	HCM	heart:	n/a
39	chr4:1242751-1242801	Caco-2	colon:	n/a
40	chr4:1242276-1242326	GM19239	blood:	n/a
41	chr4:1242751-1242801	ECC-1	luminal epithelium:	n/a
42	chr4:1242751-1242801	NT2-D1	testis:	n/a
43	chr4:1242411-1242461	SK-N-MC	brain:	n/a
44	chr4:1241727-1241777	SK-N-SH	brain:	n/a
45	chr4:1242757-1242807	HCT-116	colon:	n/a
46	chr4:1242276-1242326	NHBE	bronchial:	n/a
47	chr4:1242751-1242801	HEK293	kidney:	embryo
48	chr4:1242757-1242807	HepG2	liver:	n/a
49	chr4:1241727-1241777	NH-A	brain:	n/a
50	chr4:1242751-1242801	HEEpiC	esophagus:	n/a

(count:62 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr4:986510..988350-chr4:1240959..1243694,2	MCF-7	breast:
2	chr11:65188897..65190954-chr4:1242152..1244163,2	MCF-7	breast:
3	chr2:24583028..24583942-chr4:1242444..1242984,2	Hela-S3	cervix:
4	chr4:1241603..1244374-chr4:1357960..1359883,2	MCF-7	breast:
5	chr4:1002287..1006934-chr4:1240837..1243326,5	MCF-7	breast:
6	chr4:1236833..1250005-chr4:1276188..1292579,54	MCF-7	breast:
7	chr12:7052897..7053630-chr4:1242466..1243112,2	HCT-116	colon:
8	chr12:6977980..6980393-chr4:1240474..1243068,2	MCF-7	breast:
9	chr11:10324322..10325309-chr4:1241810..1242369,2	Hela-S3	cervix:
10	chr4:1242623..1243687-chr4:1339944..1341149,3	MCF-7	breast:
11	chr4:1215555..1220351-chr4:1239288..1242893,7	K562	blood:
12	chr4:1051885..1054795-chr4:1239634..1242106,2	MCF-7	breast:
13	chr4:1218830..1221524-chr4:1242783..1244802,2	MCF-7	breast:
14	chr4:1238043..1241970-chr4:1281719..1285287,6	MCF-7	breast:
15	chr4:1020274..1022764-chr4:1238213..1242920,4	MCF-7	breast:
16	chr4:1189059..1190794-chr4:1239654..1242349,2	K562	blood:
17	chr4:1242022..1242890-chr6:28891676..28892308,2	NB4	blood:
18	chr4:1159229..1162099-chr4:1242725..1245069,2	K562	blood:
19	chr4:1240615..1242380-chr4:1393657..1396651,2	MCF-7	breast:
20	chr1:11968198..11969063-chr4:1242972..1243738,2	Hela-S3	cervix:
21	chr4:1005389..1008246-chr4:1241169..1243031,3	K562	blood:
22	chr4:1242705..1243544-chr9:125590357..125590943,2	Hela-S3	cervix:
23	chr4:1216435..1221821-chr4:1240439..1244617,5	MCF-7	breast:
24	chr4:1243202..1244078-chrX:118925366..118926206,2	Hela-S3	cervix:
25	chr22:19753378..19753923-chr4:1241674..1242389,2	HCT-116	colon:
26	chr4:1240362..1242023-chr4:1330911..1332884,2	MCF-7	breast:
27	chr4:1242036..1244791-chr4:1580291..1583222,3	MCF-7	breast:
28	chr4:1075158..1077915-chr4:1242318..1244508,3	MCF-7	breast:
29	chr4:1158166..1163360-chr4:1238498..1245354,13	MCF-7	breast:
30	chr4:1240883..1245378-chr4:1339091..1342291,13	K562	blood:
31	chr4:1242535..1243295-chr4:1339796..1341533,6	NB4	blood:
32	chr4:1207031..1209938-chr4:1240960..1243998,4	K562	blood:
33	chr15:90808545..90809368-chr4:1242287..1242851,2	Hela-S3	cervix:
34	chr4:1242091..1248517-chr4:1279714..1285424,16	MCF-7	breast:
35	chr4:1003725..1006599-chr4:1238644..1243840,5	MCF-7	breast:
36	chr4:1005389..1007539-chr4:1241239..1243031,2	K562	blood:
37	chr4:1238004..1248980-chr4:1275065..1286840,30	K562	blood:
38	chr4:1238004..1246805-chr4:1279798..1288475,25	K562	blood:
39	chr4:1145908..1147956-chr4:1241044..1242592,2	MCF-7	breast:
40	chr12:109124373..109125308-chr4:1242591..1243335,2	Hela-S3	cervix:
41	chr4:1207031..1209440-chr4:1241875..1243998,2	K562	blood:
42	chr4:1159747..1163015-chr4:1240558..1244483,3	K562	blood:
43	chr4:1066453..1068289-chr4:1240208..1241974,2	MCF-7	breast:
44	chr4:926176..927850-chr4:1242051..1244022,2	K562	blood:
45	chr17:57915852..57918679-chr4:1239651..1241849,2	MCF-7	breast:
46	chr4:1235141..1249133-chr4:1336906..1347308,118	MCF-7	breast:
47	chr4:1201438..1204113-chr4:1239051..1243365,5	MCF-7	breast:
48	chr11:62432567..62434148-chr4:1241541..1243058,2	MCF-7	breast:
49	chr4:990681..994690-chr4:1238010..1243594,6	MCF-7	breast:
50	chr20:47894742..47895294-chr4:1241968..1242662,2	Hela-S3	cervix:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C4orf42-1	chr4:1243228-1243260	NONHSAT094687

No data

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

Extended variants
information (count: 44 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1680035	chr4:1241752-1241753	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
2	rs540028424	chr4:1241755-1241756	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
3	rs369370505	chr4:1241807-1241808	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
4	rs576458307	chr4:1241817-1241818	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
5	rs185731595	chr4:1241818-1241819	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
6	rs555843807	chr4:1241821-1241822	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
7	rs573907933	chr4:1241867-1241868	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
8	rs541038477	chr4:1241911-1241912	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
9	rs370861555	chr4:1241962-1241963	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
10	rs559216392	chr4:1241973-1241974	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
11	rs530339220	chr4:1241976-1241977	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
12	rs374534167	chr4:1242019-1242020	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
13	rs544783368	chr4:1242023-1242024	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
14	rs563371556	chr4:1242036-1242037	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
15	rs111887780	chr4:1242083-1242084	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
16	rs530750626	chr4:1242120-1242121	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
17	rs548777532	chr4:1242149-1242150	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
18	rs567356733	chr4:1242160-1242161	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
19	rs528049132	chr4:1242179-1242180	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
20	rs79686408	chr4:1242214-1242215	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	mRNA abundance
21	rs566372893	chr4:1242339-1242340	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
22	rs540162590	chr4:1242466-1242467	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
23	rs112863928	chr4:1242475-1242476	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
24	rs570114795	chr4:1242504-1242505	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
25	rs111409520	chr4:1242505-1242506	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
26	rs537671526	chr4:1242509-1242510	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
27	rs555539890	chr4:1242512-1242513	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
28	rs574121153	chr4:1242544-1242545	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	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
42	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
43	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
44	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

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:164 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1237000-1241800	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr4:1239800-1241800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
3	chr4:1239800-1241800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr4:1239800-1242000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:1240000-1241800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr4:1240000-1241800	Transcr. at gene 5' and 3'	Dnd41	blood
7	chr4:1240200-1241800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr4:1240200-1241800	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr4:1240200-1241800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
10	chr4:1240200-1242400	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr4:1240400-1242000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
12	chr4:1240400-1242000	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr4:1240400-1242400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
14	chr4:1240400-1243800	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr4:1240400-1244200	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr4:1240600-1241800	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
17	chr4:1240600-1241800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr4:1240800-1241800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:1240800-1243600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr4:1240800-1243600	Active TSS	HSMMtube	muscle
21	chr4:1241000-1242400	Active TSS	GM12878-XiMat	blood
22	chr4:1241000-1243600	Active TSS	A549	lung
23	chr4:1241000-1244000	Active TSS	H9 Cell Line	embryonic stem cell
24	chr4:1241000-1244200	Active TSS	Ovary	ovary
25	chr4:1241200-1242200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr4:1241200-1242400	Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr4:1241200-1242400	Active TSS	Fetal Kidney	kidney
28	chr4:1241200-1243400	Active TSS	NHLF	lung
29	chr4:1241200-1243600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:1241200-1243600	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr4:1241200-1243600	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr4:1241200-1243600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr4:1241200-1243600	Active TSS	Primary T cells from cord blood	blood
34	chr4:1241200-1243600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
35	chr4:1241200-1243600	Active TSS	Sigmoid Colon	Sigmoid Colon
36	chr4:1241200-1243600	Active TSS	Hela-S3	cervix
37	chr4:1241200-1243800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr4:1241200-1243800	Active TSS	Aorta	Aorta
39	chr4:1241200-1243800	Active TSS	Brain Angular Gyrus	brain
40	chr4:1241200-1243800	Active TSS	Brain Anterior Caudate	brain
41	chr4:1241200-1243800	Active TSS	Colon Smooth Muscle	Colon
42	chr4:1241200-1243800	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr4:1241200-1243800	Active TSS	Lung	lung
44	chr4:1241200-1243800	Active TSS	HepG2	liver
45	chr4:1241200-1243800	Active TSS	NHDF-Ad	bronchial
46	chr4:1241200-1244000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr4:1241200-1244000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr4:1241200-1244000	Active TSS	Right Atrium	heart
49	chr4:1241200-1244000	Active TSS	HSMM	muscle
50	chr4:1241200-1244200	Active TSS	ES-I3 Cell Line	embryonic stem cell

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