Variant report

Variant	rs4974541
Chromosome Location	chr4:1244037-1244038
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:78)
CpG islands
(count:183)
Chromatin interactive
region (count:26)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:78 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:1243613-1244052	K562	blood:	n/a	n/a
2	NFIC	chr4:1243284-1244192	GM12878	blood:	n/a	n/a
3	RELA	chr4:1241794-1244278	GM12891	blood:	n/a	n/a
4	POLR2A	chr4:1240624-1244947	GM12878	blood:	n/a	n/a
5	POLR2A	chr4:1239447-1245326	K562	blood:	n/a	n/a
6	NFIC	chr4:1243676-1244040	HepG2	liver:	n/a	n/a
7	POLR2A	chr4:1240894-1244220	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr4:1241824-1244039	GM12878	blood:	n/a	n/a
9	MAX	chr4:1241112-1244105	A549	lung:	n/a	chr4:1241594-1241604 chr4:1241554-1241564 chr4:1241434-1241443 chr4:1241433-1241443
10	TBL1XR1	chr4:1242988-1244322	GM12878	blood:	n/a	n/a
11	MYC	chr4:1243729-1244145	HepG2	liver:	n/a	n/a
12	POLR2A	chr4:1243006-1244182	GM12878	blood:	n/a	n/a
13	POLR2A	chr4:1240777-1244120	GM19099	blood:	n/a	n/a
14	MAX	chr4:1241001-1244334	HCT-116	colon:	n/a	chr4:1241594-1241604 chr4:1241554-1241564 chr4:1241434-1241443 chr4:1241433-1241443
15	POLR2A	chr4:1243614-1244237	GM12891	blood:	n/a	n/a
16	TBP	chr4:1243034-1244050	HepG2	liver:	n/a	n/a
17	E2F6	chr4:1241274-1244236	K562	blood:	n/a	chr4:1242460-1242469 chr4:1242507-1242516 chr4:1243056-1243067 chr4:1242522-1242534 chr4:1242094-1242104
18	MXI1	chr4:1240624-1244197	IMR90	lung:	n/a	chr4:1242014-1242023
19	JUN	chr4:1241875-1244341	K562	blood:	n/a	n/a
20	POLR2A	chr4:1242640-1244220	GM12878	blood:	n/a	n/a
21	MAX	chr4:1242851-1244089	HepG2	liver:	n/a	n/a
22	POLR2A	chr4:1240276-1244249	GM18505	blood:	n/a	n/a
23	POLR2A	chr4:1240466-1244395	GM12892	blood:	n/a	n/a
24	POLR2A	chr4:1240710-1244234	K562	blood:	n/a	n/a
25	ARID3A	chr4:1243563-1244084	HepG2	liver:	n/a	n/a
26	POLR2A	chr4:1240322-1244504	GM12891	blood:	n/a	n/a
27	POLR2A	chr4:1241019-1244546	MCF-7	breast:	n/a	n/a
28	SIN3A	chr4:1242932-1244224	GM12878	blood:	n/a	chr4:1243755-1243768
29	POLR2A	chr4:1240296-1244152	GM18951	blood:	n/a	n/a
30	POLR2A	chr4:1238918-1244163	GM12878	blood:	n/a	n/a
31	POLR2A	chr4:1239852-1245445	GM12892	blood:	n/a	n/a
32	MXI1	chr4:1240283-1244361	GM12878	blood:	n/a	chr4:1242014-1242023
33	CREB1	chr4:1241759-1244538	HepG2	liver:	n/a	n/a
34	POLR2A	chr4:1243533-1244493	HepG2	liver:	n/a	n/a
35	MTA3	chr4:1243246-1244309	GM12878	blood:	n/a	n/a
36	RUNX3	chr4:1242763-1244265	GM12878	blood:	n/a	n/a
37	HEY1	chr4:1241930-1244342	HepG2	liver:	n/a	chr4:1241932-1241947 chr4:1243072-1243087 chr4:1242210-1242225 chr4:1242273-1242288 chr4:1242970-1242985 chr4:1243070-1243085
38	POLR2A	chr4:1239867-1245313	HepG2	liver:	n/a	n/a
39	SETDB1	chr4:1243637-1244054	U2OS	brain:	n/a	n/a
40	RUNX3	chr4:1242822-1244062	GM12878	blood:	n/a	n/a
41	EP300	chr4:1243635-1244120	GM12878	blood:	n/a	n/a
42	POLR2A	chr4:1238878-1245469	GM12878	blood:	n/a	n/a
43	RCOR1	chr4:1243796-1244149	HepG2	liver:	n/a	n/a
44	CHD2	chr4:1242897-1244523	GM12878	blood:	n/a	n/a
45	POLR2A	chr4:1240747-1245005	HepG2	liver:	n/a	n/a
46	MAX	chr4:1242767-1244374	K562	blood:	n/a	n/a
47	CEBPB	chr4:1243752-1244053	Hela-S3	cervix:	n/a	chr4:1243882-1243893 chr4:1243884-1243895
48	POLR2A	chr4:1239998-1245234	Raji	blood:	n/a	n/a
49	RELA	chr4:1241790-1244121	GM12892	blood:	n/a	n/a
50	MAZ	chr4:1244026-1244069	Hela-S3	cervix:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:1244017-1244067	CMK	blood:	n/a
2	chr4:1244017-1244067	HEK293	kidney:	embryo
3	chr4:1244006-1244056	NB4	blood:	n/a
4	chr4:1244024-1244074	HepG2	liver:	n/a
5	chr4:1244006-1244056	AG09319	gingival:	n/a
6	chr4:1244006-1244056	HRE	kidney:	n/a
7	chr4:1244024-1244074	BE2_C	brain:	n/a
8	chr4:1244017-1244067	GM12891	blood:	n/a
9	chr4:1244024-1244074	MCF-7	breast:	n/a
10	chr4:1244017-1244067	NH-A	brain:	n/a
11	chr4:1244017-1244067	Jurkat	blood:	n/a
12	chr4:1244024-1244074	Hela-S3	cervix:	n/a
13	chr4:1244017-1244067	ECC-1	luminal epithelium:	n/a
14	chr4:1244024-1244074	BJ	skin:	n/a
15	chr4:1244006-1244056	NT2-D1	testis:	n/a
16	chr4:1244017-1244067	HCF	heart:	n/a
17	chr4:1244024-1244074	PANC-1	pancreas:	n/a
18	chr4:1244006-1244056	GM06990	blood:	n/a
19	chr4:1244006-1244056	Jurkat	blood:	n/a
20	chr4:1244024-1244074	NT2-D1	testis:	n/a
21	chr4:1244017-1244067	GM12878	blood:	n/a
22	chr4:1244017-1244067	GM12892	blood:	n/a
23	chr4:1244017-1244067	SK-N-SH	brain:	n/a
24	chr4:1244024-1244074	HNPCEpiC	eye:	n/a
25	chr4:1244017-1244067	SK-N-SH_RA	brain:	n/a
26	chr4:1244017-1244067	HCPEpiC	choroid plexus:	n/a
27	chr4:1244006-1244056	NH-A	brain:	n/a
28	chr4:1244006-1244056	MCF10A-Er-Src	breast:	n/a
29	chr4:1244024-1244074	NH-A	brain:	n/a
30	chr4:1244017-1244067	BJ	skin:	n/a
31	chr4:1244006-1244056	SKMC	muscle:	n/a
32	chr4:1244017-1244067	HIPEpiC	eye:	n/a
33	chr4:1244017-1244067	PFSK-1	brain:	n/a
34	chr4:1244017-1244067	T-47D	breast:	n/a
35	chr4:1244006-1244056	HPAEpiC	pulmonary alveolar:	n/a
36	chr4:1244017-1244067	HEEpiC	esophagus:	n/a
37	chr4:1244017-1244067	AoSMC	blood vessel:	n/a
38	chr4:1244006-1244056	AoSMC	blood vessel:	n/a
39	chr4:1244024-1244074	AG04449	skin:	fetal
40	chr4:1244017-1244067	GM19239	blood:	n/a
41	chr4:1244024-1244074	SK-N-SH_RA	brain:	n/a
42	chr4:1244006-1244056	NHBE	bronchial:	n/a
43	chr4:1244017-1244067	HNPCEpiC	eye:	n/a
44	chr4:1244006-1244056	PANC-1	pancreas:	n/a
45	chr4:1244024-1244074	Caco-2	colon:	n/a
46	chr4:1244006-1244056	HMEC	breast:	n/a
47	chr4:1244024-1244074	CMK	blood:	n/a
48	chr4:1244024-1244074	GM12878	blood:	n/a
49	chr4:1244006-1244056	SK-N-SH	brain:	n/a
50	chr4:1244024-1244074	AG04450	lung:	fetal

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:1218830..1221524-chr4:1242783..1244802,2	MCF-7	breast:
2	chr4:1075158..1077915-chr4:1242318..1244508,3	MCF-7	breast:
3	chr4:1241391..1244976-chr4:1289369..1292052,3	MCF-7	breast:
4	chr4:1103766..1108037-chr4:1241801..1244610,3	K562	blood:
5	chr4:1159747..1163015-chr4:1240558..1244483,3	K562	blood:
6	chr4:1198322..1201004-chr4:1242228..1244589,3	K562	blood:
7	chr4:1241603..1244374-chr4:1357960..1359883,2	MCF-7	breast:
8	chr4:1158166..1163360-chr4:1238498..1245354,13	MCF-7	breast:
9	chr4:1242036..1244791-chr4:1580291..1583222,3	MCF-7	breast:
10	chr4:1236833..1250005-chr4:1276188..1292579,54	MCF-7	breast:
11	chr4:1236808..1249320-chr4:1336333..1343819,66	MCF-7	breast:
12	chr4:1240883..1245378-chr4:1339091..1342291,13	K562	blood:
13	chr11:65188897..65190954-chr4:1242152..1244163,2	MCF-7	breast:
14	chr4:1242091..1248517-chr4:1279714..1285424,16	MCF-7	breast:
15	chr4:1217670..1219491-chr4:1243014..1244747,2	K562	blood:
16	chr4:1159229..1162099-chr4:1242725..1245069,2	K562	blood:
17	chr4:1240390..1245150-chr4:1578422..1582537,5	MCF-7	breast:
18	chr4:1242456..1244235-chr4:1794617..1797238,2	MCF-7	breast:
19	chr4:1243202..1244078-chrX:118925366..118926206,2	Hela-S3	cervix:
20	chr4:1235141..1249133-chr4:1336906..1347308,118	MCF-7	breast:
21	chr4:1239502..1245378-chr4:1336996..1344860,21	K562	blood:
22	chr4:1216435..1221821-chr4:1240439..1244617,5	MCF-7	breast:
23	chr4:1242011..1244764-chr6:161122775..161125242,2	MCF-7	breast:
24	chr4:1241391..1244102-chr4:1870513..1873994,3	MCF-7	breast:
25	chr4:1238004..1248980-chr4:1275065..1286840,30	K562	blood:
26	chr4:1238004..1246805-chr4:1279798..1288475,25	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C4orf42-1	chr4:1243898-1244138	ENSG00000196810.4
2	lnc-C4orf42-1	chr4:1243899-1246795	NONHSAT094687
3	lnc-C4orf42-1	chr4:1243899-1244161	NONHSAT094689
4	lnc-C4orf42-1	chr4:1243899-1246244	NONHSAT094690
5	lnc-C4orf42-1	chr4:1243496-1244138	NONHSAT094691

No data

Variant related genes	Relation type
CTBP1-AS2	TF binding region
CTBP1	TF binding region
CTBP1	CpG island
CTBP1-AS2	CpG island
ENSG00000240455	Chromatin interaction
ENSG00000109685	Chromatin interaction
ENSG00000159674	Chromatin interaction
ENSG00000122194	Chromatin interaction
ENSG00000273179	Chromatin interaction
ENSG00000244459	Chromatin interaction
ENSG00000251652	Chromatin interaction
ENSG00000163945	Chromatin interaction
ENSG00000245532	Chromatin interaction
ENSG00000178222	Chromatin interaction
ENSG00000090316	Chromatin interaction
ENSG00000068078	Chromatin interaction
ENSG00000198918	Chromatin interaction
ENSG00000159692	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11721789	0.95[EUR][1000 genomes]
rs11727987	0.94[EUR][1000 genomes]
rs12499546	0.95[EUR][1000 genomes]
rs12505362	0.94[EUR][1000 genomes]
rs12506095	0.94[EUR][1000 genomes]
rs12642797	0.95[EUR][1000 genomes]
rs13106092	0.94[EUR][1000 genomes]
rs13110563	0.94[EUR][1000 genomes]
rs13115355	0.94[EUR][1000 genomes]
rs13124444	0.92[EUR][1000 genomes]
rs13124876	0.95[EUR][1000 genomes]
rs13132584	0.95[EUR][1000 genomes]
rs13148614	0.81[EUR][1000 genomes]
rs13149790	0.94[EUR][1000 genomes]
rs1564508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1564509	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2279281	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2291199	0.95[EUR][1000 genomes]
rs2335855	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2878539	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3733338	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3755920	0.81[EUR][1000 genomes]
rs3755924	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3755927	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3775092	0.93[EUR][1000 genomes]
rs3775094	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3822017	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3915420	0.94[EUR][1000 genomes]
rs4974542	0.95[EUR][1000 genomes]
rs4974543	0.96[EUR][1000 genomes]
rs4974544	0.94[EUR][1000 genomes]
rs4974575	0.81[EUR][1000 genomes]
rs4974577	0.90[EUR][1000 genomes]
rs4974578	0.92[EUR][1000 genomes]

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	nsv822425	chr4:540105-1413799	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
2	nsv530490	chr4:614355-1399150	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	esv3339080	chr4:970630-1546223	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv829835	chr4:1097586-1304239	Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv878328	chr4:1141573-1990425	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
6	nsv878329	chr4:1147407-1254930	Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv878330	chr4:1147407-1523930	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
8	nsv878331	chr4:1159680-1254930	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
9	nsv461152	chr4:1159680-1415698	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
10	nsv593278	chr4:1159680-1415698	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
11	nsv461153	chr4:1174861-1254930	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
12	nsv593279	chr4:1174861-1254930	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
13	nsv461154	chr4:1179213-1254930	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
14	nsv593280	chr4:1179213-1254930	Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
15	nsv878332	chr4:1179213-1254930	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
16	nsv997971	chr4:1191256-1518521	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
17	nsv878333	chr4:1193832-1254930	Enhancers Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
18	nsv461155	chr4:1203265-1352685	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
19	nsv593281	chr4:1203265-1352685	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
20	nsv1002097	chr4:1212573-1320086	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
21	nsv536986	chr4:1212573-1320086	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
22	esv1811773	chr4:1228251-1287474	ZNF genes & repeats Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
23	esv1800629	chr4:1228451-1287274	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
24	esv1812851	chr4:1228451-1287274	Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
25	esv1823612	chr4:1228451-1287274	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
26	esv1825633	chr4:1228451-1287274	Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
27	esv1836927	chr4:1231363-1244037	Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
28	esv1838677	chr4:1231540-1274734	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
29	nsv822433	chr4:1232688-1246206	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
30	nsv878334	chr4:1232910-1254930	Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
31	esv1839490	chr4:1237014-1254930	Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
32	nsv878335	chr4:1237014-1254930	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
33	nsv878336	chr4:1238859-1254930	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
34	nsv878337	chr4:1240091-1254930	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
35	esv3338577	chr4:1240652-1245250	Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
36	nsv593287	chr4:1240962-1245277	Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
37	esv3325724	chr4:1241677-1244875	ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
38	esv18068	chr4:1241724-1244283	Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
39	esv1838956	chr4:1241752-1244199	Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
40	esv1837719	chr4:1241752-1245277	Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
41	esv1839051	chr4:1241752-1245277	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
42	esv1841123	chr4:1241752-1245277	Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
43	esv1837491	chr4:1241969-1259650	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
44	nsv593297	chr4:1243286-1245386	Genic enhancers Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs4974541	CRIPAK	cis	Thyroid	GTEx
rs4974541	UVSSA	cis	Skin Sun Exposed Lower leg	GTEx
rs4974541	CTBP1	Cis_1M	lymphoblastoid	RTeQTL
rs4974541	MAEA	cis	Nerve Tibial	GTEx
rs4974541	CTBP1	cis	multi-tissue	Pritchard
rs4974541	UVSSA	cis	Thyroid	GTEx
rs4974541	MAEA	cis	Thyroid	GTEx
rs4974541	CTBP1-AS2	cis	Thyroid	GTEx
rs4974541	UVSSA	cis	Whole Blood	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1240400-1244200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr4:1241000-1244200	Active TSS	Ovary	ovary
3	chr4:1241200-1244200	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr4:1241400-1244200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr4:1242000-1244200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:1243000-1244200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
7	chr4:1243200-1244200	Flanking Active TSS	HMEC	breast
8	chr4:1243400-1244200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr4:1243400-1244200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
10	chr4:1243400-1244200	Flanking Active TSS	Fetal Muscle Trunk	muscle
11	chr4:1243400-1244200	Flanking Active TSS	HUVEC	blood vessel
12	chr4:1243400-1244400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:1243400-1244400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
14	chr4:1243400-1244400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr4:1243400-1244400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
16	chr4:1243400-1244400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:1243400-1244400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:1243400-1244400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:1243400-1244400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
20	chr4:1243400-1244400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr4:1243400-1244600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
22	chr4:1243400-1244800	Transcr. at gene 5' and 3'	Dnd41	blood
23	chr4:1243400-1245000	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr4:1243600-1244200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr4:1243600-1244200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:1243600-1244200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
27	chr4:1243600-1244200	Flanking Active TSS	Primary B cells from peripheral blood	blood
28	chr4:1243600-1244200	Flanking Active TSS	Primary T cells from cord blood	blood
29	chr4:1243600-1244200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr4:1243600-1244200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
31	chr4:1243600-1244200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr4:1243600-1244200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
33	chr4:1243600-1244200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr4:1243600-1244200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr4:1243600-1244200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr4:1243600-1244200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr4:1243600-1244200	Flanking Active TSS	Brain Cingulate Gyrus	brain
38	chr4:1243600-1244200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr4:1243600-1244200	Flanking Active TSS	Esophagus	oesophagus
40	chr4:1243600-1244200	Flanking Active TSS	Fetal Lung	lung
41	chr4:1243600-1244200	Flanking Active TSS	Fetal Muscle Leg	muscle
42	chr4:1243600-1244200	Flanking Active TSS	Fetal Thymus	thymus
43	chr4:1243600-1244200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
44	chr4:1243600-1244200	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
45	chr4:1243600-1244200	Flanking Active TSS	Hela-S3	cervix
46	chr4:1243600-1244200	Flanking Active TSS	HSMMtube	muscle
47	chr4:1243600-1244200	Flanking Active TSS	K562	blood
48	chr4:1243600-1244400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
49	chr4:1243600-1244400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr4:1243600-1244400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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