Variant report

Variant	nsv593284
Chromosome Location	chr4:1240911-1243389
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:688)
CpG islands
(count:427)
Chromatin interactive
region (count:69)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:688 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

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	ATF2	chr4:1241945-1242234	GM12878	blood:	n/a	n/a
4	ATF2	chr4:1240667-1241112	GM12878	blood:	n/a	n/a
5	ATF3	chr4:1242368-1242575	K562	blood:	n/a	n/a
6	BACH1	chr4:1241299-1241511	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr4:1241799-1243347	H1-hESC	embryonic stem cell:	n/a	n/a
8	BCLAF1	chr4:1242263-1242556	GM12878	blood:	n/a	chr4:1242402-1242415 chr4:1242292-1242305 chr4:1242456-1242469
9	BCLAF1	chr4:1243289-1243733	GM12878	blood:	n/a	n/a
10	BCLAF1	chr4:1242821-1243259	GM12878	blood:	n/a	n/a
11	BHLHE40	chr4:1241762-1244280	GM12878	blood:	n/a	chr4:1241963-1241979 chr4:1242087-1242103 chr4:1242757-1242773
12	BHLHE40	chr4:1240413-1241122	GM12878	blood:	n/a	n/a
13	BHLHE40	chr4:1242896-1243252	K562	blood:	n/a	n/a
14	BHLHE40	chr4:1241856-1242621	HepG2	liver:	n/a	chr4:1241963-1241979 chr4:1242087-1242103
15	BHLHE40	chr4:1241912-1242608	K562	blood:	n/a	chr4:1241963-1241979 chr4:1242087-1242103
16	BRCA1	chr4:1241705-1241710	HepG2	liver:	n/a	n/a
17	CCNT2	chr4:1241106-1241306	K562	blood:	n/a	n/a
18	CCNT2	chr4:1241770-1243561	K562	blood:	n/a	chr4:1242380-1242389
19	CEBPB	chr4:1242550-1242861	HepG2	liver:	n/a	n/a
20	CEBPB	chr4:1242708-1242753	K562	blood:	n/a	n/a
21	CEBPB	chr4:1242575-1242881	IMR90	lung:	n/a	n/a
22	CEBPB	chr4:1242473-1242963	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr4:1242015-1243113	HepG2	liver:	n/a	n/a
24	CEBPD	chr4:1242262-1243142	HepG2	liver:	n/a	n/a
25	CHD1	chr4:1241707-1242359	GM12878	blood:	n/a	chr4:1242276-1242286
26	CHD1	chr4:1243026-1243997	GM12878	blood:	n/a	n/a
27	CHD1	chr4:1240686-1241462	GM12878	blood:	n/a	n/a
28	CHD2	chr4:1242941-1243151	HepG2	liver:	n/a	n/a
29	CHD2	chr4:1242897-1244523	GM12878	blood:	n/a	n/a
30	CHD2	chr4:1243054-1243152	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD2	chr4:1241814-1242452	GM12878	blood:	n/a	chr4:1242276-1242286
32	CHD2	chr4:1241874-1242296	HepG2	liver:	n/a	chr4:1242276-1242286
33	CHD2	chr4:1241008-1241027	K562	blood:	n/a	n/a
34	CHD2	chr4:1241878-1242580	Hela-S3	cervix:	n/a	chr4:1242461-1242471 chr4:1242276-1242286
35	CHD2	chr4:1243051-1243251	K562	blood:	n/a	n/a
36	CHD2	chr4:1242901-1243441	Hela-S3	cervix:	n/a	n/a
37	CHD2	chr4:1241628-1242272	K562	blood:	n/a	n/a
38	CHD2	chr4:1240327-1241586	GM12878	blood:	n/a	n/a
39	CHD2	chr4:1241670-1242140	H1-hESC	embryonic stem cell:	n/a	n/a
40	CREB1	chr4:1241759-1244538	HepG2	liver:	n/a	n/a
41	CREB1	chr4:1242650-1243456	A549	lung:	n/a	n/a
42	CREB1	chr4:1241942-1242604	A549	lung:	n/a	n/a
43	CTBP2	chr4:1241939-1242313	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTBP2	chr4:1243074-1243958	H1-hESC	embryonic stem cell:	n/a	n/a
45	CTCF	chr4:1241720-1241870	GM12874	blood:	n/a	n/a
46	CTCF	chr4:1241740-1241890	AG09319	gingival:	n/a	n/a
47	CTCF	chr4:1241880-1242030	GM12874	blood:	n/a	chr4:1242016-1242029
48	CTCF	chr4:1242018-1242086	GM12891	blood:	n/a	n/a
49	CTCF	chr4:1241974-1242107	GM19240	blood:	n/a	chr4:1242091-1242104 chr4:1242016-1242029
50	CTCF	chr4:1241966-1242135	GM12892	blood:	n/a	chr4:1242091-1242104 chr4:1242016-1242029

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:1242757-1242807	HCM	heart:	n/a
2	chr4:1242276-1242326	HL-60	blood:	n/a
3	chr4:1241727-1241777	T-47D	breast:	n/a
4	chr4:1242751-1242801	NH-A	brain:	n/a
5	chr4:1241727-1241777	RPTEC	kidney:	n/a
6	chr4:1242751-1242801	Caco-2	colon:	n/a
7	chr4:1242751-1242801	PANC-1	pancreas:	n/a
8	chr4:1242751-1242801	LNCaP	prostate:	n/a
9	chr4:1241727-1241777	SK-N-MC	brain:	n/a
10	chr4:1243087-1243137	GM19239	blood:	n/a
11	chr4:1241727-1241777	BE2_C	brain:	n/a
12	chr4:1243087-1243137	HCM	heart:	n/a
13	chr4:1242757-1242807	NHDF-neo	bronchial:	n/a
14	chr4:1241188-1241238	LNCaP	prostate:	n/a
15	chr4:1242751-1242801	HAEpiC	amniotic membrane:	n/a
16	chr4:1242411-1242461	HMEC	breast:	n/a
17	chr4:1242276-1242326	GM12891	blood:	n/a
18	chr4:1242276-1242326	HMEC	breast:	n/a
19	chr4:1241727-1241777	HepG2	liver:	n/a
20	chr4:1243087-1243137	ProgFib	skin:	n/a
21	chr4:1242757-1242807	NH-A	brain:	n/a
22	chr4:1241188-1241238	AG04450	lung:	fetal
23	chr4:1242276-1242326	HRE	kidney:	n/a
24	chr4:1242751-1242801	HepG2	liver:	n/a
25	chr4:1241188-1241238	SAEC	small airway:	n/a
26	chr4:1243087-1243137	RPTEC	kidney:	n/a
27	chr4:1242411-1242461	ECC-1	luminal epithelium:	n/a
28	chr4:1242751-1242801	HRE	kidney:	n/a
29	chr4:1243087-1243137	IMR90	lung:	fetal
30	chr4:1242411-1242461	PrEC	prostate:	n/a
31	chr4:1242411-1242461	MCF-7	breast:	n/a
32	chr4:1242757-1242807	Hela-S3	cervix:	n/a
33	chr4:1242276-1242326	HCPEpiC	choroid plexus:	n/a
34	chr4:1242276-1242326	GM12892	blood:	n/a
35	chr4:1241727-1241777	NHBE	bronchial:	n/a
36	chr4:1241188-1241238	GM06990	blood:	n/a
37	chr4:1242751-1242801	GM12892	blood:	n/a
38	chr4:1241188-1241238	AG10803	skin:	n/a
39	chr4:1243087-1243137	A549	lung:	n/a
40	chr4:1242757-1242807	MCF-7	breast:	n/a
41	chr4:1243087-1243137	SK-N-MC	brain:	n/a
42	chr4:1241188-1241238	NB4	blood:	n/a
43	chr4:1242751-1242801	HUVEC	blood vessel:	n/a
44	chr4:1242757-1242807	T-47D	breast:	n/a
45	chr4:1241188-1241238	HRCEpiC	kidney:	n/a
46	chr4:1241727-1241777	AG09309	skin:	n/a
47	chr4:1242276-1242326	HepG2	liver:	n/a
48	chr4:1242751-1242801	GM12878	blood:	n/a
49	chr4:1242276-1242326	AG04449	skin:	fetal
50	chr4:1241188-1241238	HEK293	kidney:	embryo

(count:69 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr4:1238004..1246805-chr4:1279798..1288475,25	K562	blood:
2	chr4:1002287..1006934-chr4:1240837..1243326,5	MCF-7	breast:
3	chr4:1242623..1243687-chr4:1339944..1341149,3	MCF-7	breast:
4	chr4:1235141..1249133-chr4:1336906..1347308,118	MCF-7	breast:
5	chr4:1201438..1204113-chr4:1239051..1243365,5	MCF-7	breast:
6	chr4:1242091..1248517-chr4:1279714..1285424,16	MCF-7	breast:
7	chr4:1020274..1022764-chr4:1238213..1242920,4	MCF-7	breast:
8	chr17:57915852..57918679-chr4:1239651..1241849,2	MCF-7	breast:
9	chr11:65188897..65190954-chr4:1242152..1244163,2	MCF-7	breast:
10	chr4:1240362..1242023-chr4:1330911..1332884,2	MCF-7	breast:
11	chr4:1238043..1241970-chr4:1281719..1285287,6	MCF-7	breast:
12	chr20:47894742..47895294-chr4:1241968..1242662,2	Hela-S3	cervix:
13	chr4:1238004..1248980-chr4:1275065..1286840,30	K562	blood:
14	chr4:1207048..1210414-chr4:1237792..1241348,3	K562	blood:
15	chr4:1216435..1221821-chr4:1240439..1244617,5	MCF-7	breast:
16	chr2:24583028..24583942-chr4:1242444..1242984,2	Hela-S3	cervix:
17	chr4:1217670..1219491-chr4:1243014..1244747,2	K562	blood:
18	chr22:19753378..19753923-chr4:1241674..1242389,2	HCT-116	colon:
19	chr4:1159229..1162099-chr4:1242725..1245069,2	K562	blood:
20	chr4:1242036..1244791-chr4:1580291..1583222,3	MCF-7	breast:
21	chr12:6977980..6980393-chr4:1240474..1243068,2	MCF-7	breast:
22	chr4:1051885..1054795-chr4:1239634..1242106,2	MCF-7	breast:
23	chr4:1241603..1244374-chr4:1357960..1359883,2	MCF-7	breast:
24	chr4:925435..927433-chr4:1239888..1241441,2	MCF-7	breast:
25	chr4:1005389..1007539-chr4:1241239..1243031,2	K562	blood:
26	chr4:1242022..1242890-chr6:28891676..28892308,2	NB4	blood:
27	chr4:1218830..1221524-chr4:1242783..1244802,2	MCF-7	breast:
28	chr4:1142514..1145503-chr4:1240960..1243114,2	K562	blood:
29	chr4:1128219..1129832-chr4:1239417..1241300,2	MCF-7	breast:
30	chr4:1207031..1209440-chr4:1241875..1243998,2	K562	blood:
31	chr4:1243202..1244078-chrX:118925366..118926206,2	Hela-S3	cervix:
32	chr4:1242011..1244764-chr6:161122775..161125242,2	MCF-7	breast:
33	chr15:90808545..90809368-chr4:1242287..1242851,2	Hela-S3	cervix:
34	chr1:11968198..11969063-chr4:1242972..1243738,2	Hela-S3	cervix:
35	chr4:1204863..1206646-chr4:1239464..1241348,2	K562	blood:
36	chr4:1239502..1245378-chr4:1336996..1344860,21	K562	blood:
37	chr12:7052897..7053630-chr4:1242466..1243112,2	HCT-116	colon:
38	chr4:1158166..1163360-chr4:1238498..1245354,13	MCF-7	breast:
39	chr4:1242535..1243295-chr4:1339796..1341533,6	NB4	blood:
40	chr4:1075158..1077915-chr4:1242318..1244508,3	MCF-7	breast:
41	chr4:1189059..1190794-chr4:1239654..1242349,2	K562	blood:
42	chr4:990681..994690-chr4:1238010..1243594,6	MCF-7	breast:
43	chr4:1236808..1249320-chr4:1336333..1343819,66	MCF-7	breast:
44	chr4:1159747..1163015-chr4:1240558..1244483,3	K562	blood:
45	chr4:1145908..1147956-chr4:1241044..1242592,2	MCF-7	breast:
46	chr4:1198322..1201004-chr4:1242228..1244589,3	K562	blood:
47	chr4:1242705..1243544-chr9:125590357..125590943,2	Hela-S3	cervix:
48	chr4:1241391..1244102-chr4:1870513..1873994,3	MCF-7	breast:
49	chr11:62432567..62434148-chr4:1241541..1243058,2	MCF-7	breast:
50	chr4:1003725..1006599-chr4:1238644..1243840,5	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C4orf42-1	chr4:1243294-1243490	NONHSAT094689
2	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
ENSG00000182768	chromatin interactions
ENSG00000199004	chromatin interactions
ENSG00000127415	chromatin interactions
ENSG00000196227	chromatin interactions
ENSG00000204713	chromatin interactions
ENSG00000177410	chromatin interactions
ENSG00000273179	chromatin interactions
ENSG00000124201	chromatin interactions
ENSG00000206597	chromatin interactions
ENSG00000145217	chromatin interactions
ENSG00000122194	chromatin interactions
ENSG00000162194	chromatin interactions
ENSG00000199347	chromatin interactions
ENSG00000244459	chromatin interactions
ENSG00000255432	chromatin interactions
ENSG00000127419	chromatin interactions
ENSG00000159692	chromatin interactions
ENSG00000159674	chromatin interactions
ENSG00000238923	chromatin interactions
ENSG00000178222	chromatin interactions
ENSG00000111669	chromatin interactions
ENSG00000068078	chromatin interactions
ENSG00000090316	chromatin interactions
ENSG00000214756	chromatin interactions
ENSG00000109685	chromatin interactions
ENSG00000198918	chromatin interactions
ENSG00000227189	chromatin interactions
ENSG00000254554	chromatin interactions
ENSG00000111678	chromatin interactions
ENSG00000198399	chromatin interactions
ENSG00000136940	chromatin interactions
ENSG00000110880	chromatin interactions
ENSG00000178950	chromatin interactions
ENSG00000163945	chromatin interactions
ENSG00000240455	chromatin interactions
ENSG00000251652	chromatin interactions
ENSG00000245532	chromatin interactions
ENSG00000215367	chromatin interactions
ENSG00000250259	chromatin interactions
ENSG00000127418	chromatin interactions
ENSG00000132825	chromatin interactions

Extended variants
information (count: 87 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	rs369370505	chr4:1241807-1241808	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
41	rs576458307	chr4:1241817-1241818	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
42	rs185731595	chr4:1241818-1241819	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
43	rs555843807	chr4:1241821-1241822	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
44	rs573907933	chr4:1241867-1241868	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
45	rs541038477	chr4:1241911-1241912	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
46	rs370861555	chr4:1241962-1241963	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
47	rs559216392	chr4:1241973-1241974	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
48	rs530339220	chr4:1241976-1241977	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
49	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
50	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

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:284 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1235000-1241200	Weak transcription	Aorta	Aorta
2	chr4:1235400-1241000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr4:1235600-1241000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr4:1235600-1241000	Enhancers	Ovary	ovary
5	chr4:1236400-1241000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr4:1237000-1241800	Flanking Active TSS	Stomach Smooth Muscle	stomach
7	chr4:1238000-1241400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr4:1238400-1241400	Flanking Active TSS	Pancreas	Pancrea
9	chr4:1238800-1241200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:1239200-1241000	Enhancers	Small Intestine	intestine
11	chr4:1239400-1241400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:1239400-1241600	Flanking Active TSS	Colonic Mucosa	Colon
13	chr4:1239600-1241400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr4:1239600-1241600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
15	chr4:1239800-1241000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:1239800-1241000	Flanking Active TSS	GM12878-XiMat	blood
17	chr4:1239800-1241200	Transcr. at gene 5' and 3'	NHEK	skin
18	chr4:1239800-1241400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:1239800-1241400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
20	chr4:1239800-1241400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
21	chr4:1239800-1241400	Flanking Active TSS	Brain Hippocampus Middle	brain
22	chr4:1239800-1241800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
23	chr4:1239800-1241800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:1239800-1242000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:1240000-1241200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:1240000-1241200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr4:1240000-1241400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr4:1240000-1241400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr4:1240000-1241400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr4:1240000-1241400	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr4:1240000-1241400	Flanking Active TSS	Fetal Brain Female	brain
32	chr4:1240000-1241400	Flanking Active TSS	Rectal Smooth Muscle	rectum
33	chr4:1240000-1241400	Flanking Active TSS	HMEC	breast
34	chr4:1240000-1241400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr4:1240000-1241600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr4:1240000-1241800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr4:1240000-1241800	Transcr. at gene 5' and 3'	Dnd41	blood
38	chr4:1240200-1241000	Enhancers	H9 Cell Line	embryonic stem cell
39	chr4:1240200-1241200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr4:1240200-1241200	Flanking Active TSS	Primary T cells from cord blood	blood
41	chr4:1240200-1241200	Flanking Active TSS	Colon Smooth Muscle	Colon
42	chr4:1240200-1241200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr4:1240200-1241200	Flanking Active TSS	Hela-S3	cervix
44	chr4:1240200-1241200	Flanking Active TSS	HSMM	muscle
45	chr4:1240200-1241400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:1240200-1241400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr4:1240200-1241400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr4:1240200-1241400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr4:1240200-1241400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr4:1240200-1241400	Flanking Active TSS	Brain Germinal Matrix	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links