Variant report

Variant	rs1564508
Chromosome Location	chr4:1244879-1244880
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:1244458-1245058	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr4:1240624-1244947	GM12878	blood:	n/a	n/a
3	POLR2A	chr4:1239447-1245326	K562	blood:	n/a	n/a
4	POLR2A	chr4:1244811-1245127	MCF-7	breast:	n/a	n/a
5	POLR2A	chr4:1244590-1245227	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr4:1244783-1245346	GM12878	blood:	n/a	n/a
7	POLR2A	chr4:1239852-1245445	GM12892	blood:	n/a	n/a
8	POLR2A	chr4:1244638-1244948	MCF-7	breast:	n/a	n/a
9	POLR2A	chr4:1244700-1245460	GM12878	blood:	n/a	n/a
10	POLR2A	chr4:1239867-1245313	HepG2	liver:	n/a	n/a
11	POLR2A	chr4:1238878-1245469	GM12878	blood:	n/a	n/a
12	POLR2A	chr4:1240747-1245005	HepG2	liver:	n/a	n/a
13	POLR2A	chr4:1239998-1245234	Raji	blood:	n/a	n/a
14	POLR2A	chr4:1244865-1245230	GM12878	blood:	n/a	n/a
15	POLR2A	chr4:1244250-1245439	GM12892	blood:	n/a	n/a
16	POLR2A	chr4:1239891-1245200	K562	blood:	n/a	n/a
17	POLR2A	chr4:1244680-1245341	MCF-7	breast:	n/a	n/a
18	POLR2A	chr4:1241720-1245130	MCF10A-Er-Src	breast:	n/a	n/a
19	POLR2A	chr4:1244816-1244975	HUVEC	blood vessel:	n/a	n/a
20	POLR2A	chr4:1244747-1245195	HepG2	liver:	n/a	n/a
21	POLR2A	chr4:1242935-1245630	SK-N-MC	brain:	n/a	n/a
22	POLR2A	chr4:1244728-1245047	K562	blood:	n/a	n/a
23	POLR2A	chr4:1239817-1245060	GM12878	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:1241391..1244976-chr4:1289369..1292052,3	MCF-7	breast:
2	chr4:1158166..1163360-chr4:1238498..1245354,13	MCF-7	breast:
3	chr4:1236833..1250005-chr4:1276188..1292579,54	MCF-7	breast:
4	chr4:1236808..1249320-chr4:1336333..1343819,66	MCF-7	breast:
5	chr4:1240883..1245378-chr4:1339091..1342291,13	K562	blood:
6	chr4:1242091..1248517-chr4:1279714..1285424,16	MCF-7	breast:
7	chr4:1159229..1162099-chr4:1242725..1245069,2	K562	blood:
8	chr4:1240390..1245150-chr4:1578422..1582537,5	MCF-7	breast:
9	chr4:1235141..1249133-chr4:1336906..1347308,118	MCF-7	breast:
10	chr4:1239502..1245378-chr4:1336996..1344860,21	K562	blood:
11	chr4:1238004..1248980-chr4:1275065..1286840,30	K562	blood:
12	chr4:1238004..1246805-chr4:1279798..1288475,25	K562	blood:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C4orf42-1	chr4:1244684-1244975	ENSG00000196810.4
2	lnc-C4orf42-1	chr4:1244314-1245224	ENSG00000196810.4
3	lnc-C4orf42-1	chr4:1244047-1249698	ENSG00000196810.4
4	lnc-C4orf42-1	chr4:1243899-1246795	NONHSAT094687
5	lnc-C4orf42-1	chr4:1244684-1246110	NONHSAT094689
6	lnc-C4orf42-1	chr4:1243899-1246244	NONHSAT094690
7	lnc-C4orf42-1	chr4:1244684-1246358	NONHSAT094691

No data

Variant related genes	Relation type
CTBP1	TF binding region
CTBP1-AS2	TF binding region
ENSG00000273179	Chromatin interaction
ENSG00000090316	Chromatin interaction
ENSG00000244459	Chromatin interaction
ENSG00000163945	Chromatin interaction

Extended variants
information (count: 105 )
Associated
traits (count: 18 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs11247983	0.85[CEU][hapmap]
rs11721789	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs11727167	0.85[CEU][hapmap]
rs11727987	0.94[EUR][1000 genomes]
rs12499546	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs12502916	0.85[CEU][hapmap]
rs12505362	0.94[EUR][1000 genomes]
rs12506095	0.94[EUR][1000 genomes]
rs12508446	0.88[CEU][hapmap]
rs12642410	0.85[CEU][hapmap]
rs12642797	0.95[EUR][1000 genomes]
rs13106092	0.94[EUR][1000 genomes]
rs13110563	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs13112706	0.85[CEU][hapmap]
rs13115355	0.94[EUR][1000 genomes]
rs13124444	0.92[EUR][1000 genomes]
rs13124876	0.95[EUR][1000 genomes]
rs13128045	0.85[CEU][hapmap]
rs13132584	0.95[EUR][1000 genomes]
rs13134106	0.85[CEU][hapmap]
rs13148614	0.81[EUR][1000 genomes]
rs13149575	0.85[CEU][hapmap]
rs13149790	0.94[EUR][1000 genomes]
rs13149952	0.85[CEU][hapmap]
rs13150571	0.84[CEU][hapmap]
rs1316393	0.82[CEU][hapmap]
rs1564509	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17164549	0.91[YRI][hapmap]
rs1732107	0.85[CEU][hapmap]
rs1960426	1.00[CEU][hapmap];0.86[TSI][hapmap]
rs2178443	0.91[YRI][hapmap]
rs2279281	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2291199	1.00[CEU][hapmap];0.82[MEX][hapmap];0.91[TSI][hapmap];0.95[EUR][1000 genomes]
rs2335855	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.91[MKK][hapmap];0.98[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2878539	0.93[ASW][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap];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	0.83[TSI][hapmap];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]
rs3775099	0.92[CEU][hapmap]
rs3811733	0.87[YRI][hapmap]
rs3822017	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3915420	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs4045131	0.92[CEU][hapmap]
rs4246685	0.85[CEU][hapmap]
rs4405964	0.85[CEU][hapmap]
rs4428235	0.85[CEU][hapmap]
rs4493483	0.85[CEU][hapmap]
rs4516656	0.85[CEU][hapmap]
rs4519749	0.85[CEU][hapmap]
rs4642180	0.84[CEU][hapmap]
rs4974541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4974542	0.95[EUR][1000 genomes]
rs4974543	0.96[EUR][1000 genomes]
rs4974544	0.94[EUR][1000 genomes]
rs4974574	0.92[CEU][hapmap]
rs4974575	0.81[EUR][1000 genomes]
rs4974577	0.90[EUR][1000 genomes]
rs4974578	0.92[EUR][1000 genomes]
rs4974582	0.91[CEU][hapmap]
rs900027	0.85[CEU][hapmap]
rs900028	0.85[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:41 , 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	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
28	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
29	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
30	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
31	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
32	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
33	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
34	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
35	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
36	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
37	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
38	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
39	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
40	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
41	nsv593298	chr4:1244267-1342521	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:18)

SNP	Gene	Cis/trans	Tissue	Source
rs1564508	C4orf42	cis	lymphoblastoid	seeQTL
rs1564508	UVSSA	cis	Skin Sun Exposed Lower leg	GTEx
rs1564508	MAEA	cis	Thyroid	GTEx
rs1564508	MAEA	cis	cerebellum	SCAN
rs1564508	KIAA1530	cis	cerebellum	SCAN
rs1564508	KIAA1530	cis	parietal	SCAN
rs1564508	CRIPAK	cis	cerebellum	SCAN
rs1564508	MAEA	cis	Nerve Tibial	GTEx
rs1564508	CTBP1-AS2	cis	Thyroid	GTEx
rs1564508	CTBP1	cis	multi-tissue	Pritchard
rs1564508	ADD1	cis	cerebellum	SCAN
rs1564508	CRIPAK	cis	parietal	SCAN
rs1564508	KIAA1530	cis	lymphoblastoid	seeQTL
rs1564508	CTBP1	Cis_1M	lymphoblastoid	RTeQTL
rs1564508	UVSSA	cis	Thyroid	GTEx
rs1564508	C4orf42	cis	cerebellum	SCAN
rs1564508	UVSSA	cis	Whole Blood	GTEx
rs1564508	CRIPAK	cis	Thyroid	GTEx

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1243400-1245000	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr4:1243600-1245000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr4:1243600-1245400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
4	chr4:1243600-1245400	ZNF genes & repeats	Fetal Intestine Large	intestine
5	chr4:1243600-1248000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:1243800-1245000	Enhancers	Spleen	Spleen
7	chr4:1243800-1245200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:1243800-1245800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:1243800-1247400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:1243800-1248200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
11	chr4:1244000-1245000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr4:1244000-1245000	Enhancers	Stomach Mucosa	stomach
13	chr4:1244000-1245400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr4:1244000-1245400	ZNF genes & repeats	HSMM	muscle
15	chr4:1244000-1245600	ZNF genes & repeats	A549	lung
16	chr4:1244000-1245800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:1244000-1245800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:1244000-1245800	Enhancers	Fetal Brain Male	brain
19	chr4:1244000-1246000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
20	chr4:1244000-1246800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr4:1244000-1247200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
22	chr4:1244000-1247200	ZNF genes & repeats	Fetal Intestine Small	intestine
23	chr4:1244000-1247400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
24	chr4:1244000-1247400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
25	chr4:1244000-1247400	ZNF genes & repeats	Placenta	Placenta
26	chr4:1244000-1247600	ZNF genes & repeats	Fetal Stomach	stomach
27	chr4:1244200-1245000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr4:1244200-1245000	Enhancers	Colon Smooth Muscle	Colon
29	chr4:1244200-1245000	Enhancers	Lung	lung
30	chr4:1244200-1245000	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr4:1244200-1245400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
32	chr4:1244200-1245400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr4:1244200-1245400	Enhancers	Left Ventricle	heart
34	chr4:1244200-1245400	Enhancers	Ovary	ovary
35	chr4:1244200-1245600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr4:1244200-1245800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr4:1244200-1245800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr4:1244200-1245800	Enhancers	Right Atrium	heart
39	chr4:1244200-1247000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr4:1244200-1247800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:1244200-1248400	ZNF genes & repeats	Fetal Muscle Leg	muscle
42	chr4:1244200-1249200	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr4:1244200-1249400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr4:1244200-1249800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr4:1244400-1245000	Enhancers	Primary T cells fromperipheralblood	blood
46	chr4:1244400-1245000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr4:1244400-1245200	Genic enhancers	Brain Inferior Temporal Lobe	brain
48	chr4:1244400-1245200	Weak transcription	HSMMtube	muscle
49	chr4:1244400-1245200	ZNF genes & repeats	K562	blood
50	chr4:1244400-1245400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell

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