Variant report

Variant	rs3775092
Chromosome Location	chr4:1240962-1240963
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:81)
CpG islands
(count:0)
Chromatin interactive
region (count:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:81 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF263	chr4:1240908-1242172	HEK293-T-REx	kidney:	n/a	n/a
2	RUNX3	chr4:1240269-1241634	GM12878	blood:	n/a	chr4:1241327-1241342
3	POLR2A	chr4:1240218-1243708	MCF-7	breast:	n/a	n/a
4	PBX3	chr4:1240802-1241059	GM12878	blood:	n/a	n/a
5	TCF3	chr4:1240656-1241390	GM12878	blood:	n/a	chr4:1241128-1241143 chr4:1241131-1241140
6	POLR2A	chr4:1240933-1243481	ECC-1	luminal epithelium:	n/a	n/a
7	POLR2A	chr4:1240624-1244947	GM12878	blood:	n/a	n/a
8	POLR2A	chr4:1239447-1245326	K562	blood:	n/a	n/a
9	YY1	chr4:1240809-1241260	GM12878	blood:	n/a	chr4:1241032-1241042
10	POLR2A	chr4:1240894-1244220	HUVEC	blood vessel:	n/a	n/a
11	STAT5A	chr4:1240697-1241502	GM12878	blood:	n/a	n/a
12	MAX	chr4:1240813-1240992	K562	blood:	n/a	n/a
13	POU2F2	chr4:1240645-1241268	GM12878	blood:	n/a	n/a
14	MAX	chr4:1240344-1243648	NB4	blood:	n/a	chr4:1241594-1241604 chr4:1241554-1241564 chr4:1241434-1241443 chr4:1241433-1241443
15	EGR1	chr4:1240754-1241071	K562	blood:	n/a	n/a
16	YY1	chr4:1240823-1241229	GM12892	blood:	n/a	chr4:1241032-1241042
17	POLR2A	chr4:1240777-1244120	GM19099	blood:	n/a	n/a
18	SRF	chr4:1240951-1241127	GM12878	blood:	n/a	chr4:1241025-1241043 chr4:1241025-1241039 chr4:1241029-1241043 chr4:1241028-1241045
19	YY1	chr4:1240728-1241412	GM12878	blood:	n/a	chr4:1241032-1241042
20	SMC3	chr4:1240867-1241459	GM12878	blood:	n/a	n/a
21	MXI1	chr4:1240624-1244197	IMR90	lung:	n/a	chr4:1242014-1242023
22	EP300	chr4:1240729-1241055	GM12878	blood:	n/a	n/a
23	POLR2A	chr4:1240276-1244249	GM18505	blood:	n/a	n/a
24	POLR2A	chr4:1240466-1244395	GM12892	blood:	n/a	n/a
25	POLR2A	chr4:1240710-1244234	K562	blood:	n/a	n/a
26	POLR2A	chr4:1240322-1244504	GM12891	blood:	n/a	n/a
27	HEY1	chr4:1240628-1241504	K562	blood:	n/a	n/a
28	MYC	chr4:1240563-1243638	NB4	blood:	n/a	chr4:1241594-1241604 chr4:1241554-1241564 chr4:1241434-1241443 chr4:1241433-1241443
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	MAZ	chr4:1240520-1241505	GM12878	blood:	n/a	chr4:1241434-1241443 chr4:1241433-1241443
34	TCF3	chr4:1240845-1241090	GM12878	blood:	n/a	n/a
35	POLR2A	chr4:1239738-1242639	GM12878	blood:	n/a	n/a
36	MAX	chr4:1240752-1242705	K562	blood:	n/a	chr4:1241594-1241604 chr4:1241554-1241564 chr4:1241434-1241443 chr4:1241433-1241443
37	POLR2A	chr4:1240749-1241242	GM12891	blood:	n/a	n/a
38	POLR2A	chr4:1239867-1245313	HepG2	liver:	n/a	n/a
39	POLR2A	chr4:1238878-1245469	GM12878	blood:	n/a	n/a
40	CHD1	chr4:1240686-1241462	GM12878	blood:	n/a	n/a
41	POLR2A	chr4:1240747-1245005	HepG2	liver:	n/a	n/a
42	WRNIP1	chr4:1239911-1241478	GM12878	blood:	n/a	n/a
43	POLR2A	chr4:1239998-1245234	Raji	blood:	n/a	n/a
44	PBX3	chr4:1240867-1241025	GM12878	blood:	n/a	n/a
45	PML	chr4:1240389-1241248	GM12878	blood:	n/a	n/a
46	STAT1	chr4:1240895-1241381	GM12878	blood:	n/a	n/a
47	POLR2A	chr4:1239874-1244526	GM19193	blood:	n/a	n/a
48	ZNF143	chr4:1240891-1241107	GM12878	blood:	n/a	n/a
49	POLR2A	chr4:1240653-1241785	GM12878	blood:	n/a	n/a
50	ELF1	chr4:1240649-1242562	GM12878	blood:	n/a	chr4:1241960-1241972 chr4:1241595-1241607

No data

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:1128219..1129832-chr4:1239417..1241300,2	MCF-7	breast:
2	chr4:1215555..1220351-chr4:1239288..1242893,7	K562	blood:
3	chr12:6977980..6980393-chr4:1240474..1243068,2	MCF-7	breast:
4	chr17:57915852..57918679-chr4:1239651..1241849,2	MCF-7	breast:
5	chr4:1207031..1209938-chr4:1240960..1243998,4	K562	blood:
6	chr4:1066453..1068289-chr4:1240208..1241974,2	MCF-7	breast:
7	chr4:1159747..1163015-chr4:1240558..1244483,3	K562	blood:
8	chr4:925435..927433-chr4:1239888..1241441,2	MCF-7	breast:
9	chr4:1207048..1210414-chr4:1237792..1241348,3	K562	blood:
10	chr4:1201438..1204113-chr4:1239051..1243365,5	MCF-7	breast:
11	chr4:986510..988350-chr4:1240959..1243694,2	MCF-7	breast:
12	chr4:1158166..1163360-chr4:1238498..1245354,13	MCF-7	breast:
13	chr20:58514614..58517164-chr4:1239495..1242214,2	MCF-7	breast:
14	chr4:1236833..1250005-chr4:1276188..1292579,54	MCF-7	breast:
15	chr4:1236808..1249320-chr4:1336333..1343819,66	MCF-7	breast:
16	chr4:1240883..1245378-chr4:1339091..1342291,13	K562	blood:
17	chr4:1238043..1241970-chr4:1281719..1285287,6	MCF-7	breast:
18	chr4:1051885..1054795-chr4:1239634..1242106,2	MCF-7	breast:
19	chr4:1240390..1245150-chr4:1578422..1582537,5	MCF-7	breast:
20	chr4:1235141..1249133-chr4:1336906..1347308,118	MCF-7	breast:
21	chr4:1003725..1006599-chr4:1238644..1243840,5	MCF-7	breast:
22	chr4:1239502..1245378-chr4:1336996..1344860,21	K562	blood:
23	chr4:1142514..1145503-chr4:1240960..1243114,2	K562	blood:
24	chr4:1239325..1241522-chr4:1343447..1345640,2	K562	blood:
25	chr4:990681..994690-chr4:1238010..1243594,6	MCF-7	breast:
26	chr4:1189059..1190794-chr4:1239654..1242349,2	K562	blood:
27	chr4:1002287..1006934-chr4:1240837..1243326,5	MCF-7	breast:
28	chr1:151817465..151820219-chr4:1240046..1241546,2	MCF-7	breast:
29	chr4:1020274..1022764-chr4:1238213..1242920,4	MCF-7	breast:
30	chr4:1204863..1206646-chr4:1239464..1241348,2	K562	blood:
31	chr4:1216435..1221821-chr4:1240439..1244617,5	MCF-7	breast:
32	chr4:1121885..1124644-chr4:1239644..1241550,2	MCF-7	breast:
33	chr4:1240362..1242023-chr4:1330911..1332884,2	MCF-7	breast:
34	chr4:1240615..1242380-chr4:1393657..1396651,2	MCF-7	breast:
35	chr4:1238004..1248980-chr4:1275065..1286840,30	K562	blood:
36	chr4:1238004..1246805-chr4:1279798..1288475,25	K562	blood:

No data

Variant related genes	Relation type
CTBP1-AS2	TF binding region
ENSG00000127418	Chromatin interaction
ENSG00000273179	Chromatin interaction
ENSG00000159674	Chromatin interaction
ENSG00000145217	Chromatin interaction
ENSG00000127415	Chromatin interaction
ENSG00000250259	Chromatin interaction
ENSG00000111669	Chromatin interaction
ENSG00000127419	Chromatin interaction
ENSG00000227189	Chromatin interaction
ENSG00000163945	Chromatin interaction
ENSG00000090316	Chromatin interaction
ENSG00000178950	Chromatin interaction
ENSG00000159692	Chromatin interaction
ENSG00000244459	Chromatin interaction
ENSG00000132825	Chromatin interaction
ENSG00000178222	Chromatin interaction
ENSG00000199004	Chromatin interaction
ENSG00000196227	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 8 )

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

rs_ID	r²[population]
rs11721789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11727987	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12499546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12505362	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12506095	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12642797	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12643212	0.82[ASN][1000 genomes]
rs13106092	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13110563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13115355	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13124444	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13124876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13132584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13149790	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1564508	0.93[EUR][1000 genomes]
rs1564509	0.87[EUR][1000 genomes]
rs2279281	0.94[EUR][1000 genomes]
rs2291199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2335855	0.94[EUR][1000 genomes]
rs3733338	0.95[EUR][1000 genomes]
rs3755924	0.94[EUR][1000 genomes]
rs3755927	0.94[EUR][1000 genomes]
rs3775094	0.94[EUR][1000 genomes]
rs3775099	0.83[ASN][1000 genomes]
rs3822017	0.87[EUR][1000 genomes]
rs3915420	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4045131	0.82[ASN][1000 genomes]
rs4974541	0.93[EUR][1000 genomes]
rs4974542	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4974543	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4974544	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4974574	0.82[ASN][1000 genomes]
rs4974577	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4974578	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:42 , 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	esv1844406	chr4:1230397-1243775	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
28	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
29	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
30	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
31	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
32	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
33	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
34	nsv593282	chr4:1238363-1243573	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
35	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
36	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
37	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
38	nsv593283	chr4:1240911-1243286	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
39	nsv593284	chr4:1240911-1243389	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
40	nsv593285	chr4:1240911-1243617	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
41	nsv593286	chr4:1240962-1243389	Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
42	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

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs3775092	UVSSA	cis	Skin Sun Exposed Lower leg	GTEx
rs3775092	UVSSA	cis	Whole Blood	GTEx
rs3775092	CRIPAK	cis	Thyroid	GTEx
rs3775092	CTBP1	cis	multi-tissue	Pritchard
rs3775092	CTBP1	Cis_1M	lymphoblastoid	RTeQTL
rs3775092	MAEA	cis	Nerve Tibial	GTEx
rs3775092	UVSSA	cis	Thyroid	GTEx
rs3775092	MAEA	cis	Thyroid	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

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

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