Variant report

Variant	rs13149599
Chromosome Location	chr4:1241562-1241563
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	POLR2A	chr4:1240933-1243481	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr4:1240624-1244947	GM12878	blood:	n/a	n/a
6	YY1	chr4:1241450-1242496	SK-N-SH	brain:	n/a	chr4:1242380-1242391 chr4:1241911-1241923 chr4:1242412-1242423 chr4:1241880-1241894 chr4:1242451-1242465 chr4:1241912-1241920
7	POLR2A	chr4:1241282-1243805	IMR90	lung:	n/a	n/a
8	POLR2A	chr4:1239447-1245326	K562	blood:	n/a	n/a
9	POLR2A	chr4:1240894-1244220	HUVEC	blood vessel:	n/a	n/a
10	SMC3	chr4:1241317-1242140	Hela-S3	cervix:	n/a	chr4:1242016-1242026
11	MYC	chr4:1241092-1241562	K562	blood:	n/a	chr4:1241434-1241443 chr4:1241433-1241443
12	POLR2A	chr4:1241557-1243632	HL-60	blood:	n/a	n/a
13	UBTF	chr4:1241359-1242157	K562	blood:	n/a	n/a
14	MAX	chr4:1241112-1244105	A549	lung:	n/a	chr4:1241594-1241604 chr4:1241554-1241564 chr4:1241434-1241443 chr4:1241433-1241443
15	MAX	chr4:1240344-1243648	NB4	blood:	n/a	chr4:1241594-1241604 chr4:1241554-1241564 chr4:1241434-1241443 chr4:1241433-1241443
16	MAX	chr4:1241266-1241583	K562	blood:	n/a	chr4:1241554-1241564 chr4:1241434-1241443 chr4:1241433-1241443
17	MAZ	chr4:1241498-1243990	K562	blood:	n/a	chr4:1241594-1241604 chr4:1241554-1241564
18	SMARCB1	chr4:1241254-1242659	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr4:1240777-1244120	GM19099	blood:	n/a	n/a
20	MAX	chr4:1241001-1244334	HCT-116	colon:	n/a	chr4:1241594-1241604 chr4:1241554-1241564 chr4:1241434-1241443 chr4:1241433-1241443
21	YY1	chr4:1241303-1243683	GM12892	blood:	n/a	chr4:1243499-1243513 chr4:1242380-1242391 chr4:1241911-1241923 chr4:1242412-1242423 chr4:1241880-1241894 chr4:1242451-1242465 chr4:1241912-1241920 chr4:1243010-1243024
22	POLR2A	chr4:1241560-1241655	A549	lung:	n/a	n/a
23	E2F6	chr4:1241274-1244236	K562	blood:	n/a	chr4:1242460-1242469 chr4:1242507-1242516 chr4:1243056-1243067 chr4:1242522-1242534 chr4:1242094-1242104
24	REST	chr4:1241114-1243788	H1-neurons	neurons:	n/a	chr4:1241467-1241480 chr4:1242386-1242399 chr4:1241266-1241276 chr4:1242363-1242376 chr4:1243612-1243632 chr4:1242093-1242103 chr4:1241445-1241458 chr4:1242360-1242373
25	MXI1	chr4:1240624-1244197	IMR90	lung:	n/a	chr4:1242014-1242023
26	PAX5	chr4:1241012-1241577	GM12892	blood:	n/a	n/a
27	YY1	chr4:1241282-1242397	GM12878	blood:	n/a	chr4:1242380-1242391 chr4:1241911-1241923 chr4:1241880-1241894 chr4:1241912-1241920
28	POLR2A	chr4:1240276-1244249	GM18505	blood:	n/a	n/a
29	MAZ	chr4:1241387-1243479	Hela-S3	cervix:	n/a	chr4:1241594-1241604 chr4:1241554-1241564 chr4:1241434-1241443 chr4:1241433-1241443
30	POLR2A	chr4:1240466-1244395	GM12892	blood:	n/a	n/a
31	UBTF	chr4:1241183-1242457	K562	blood:	n/a	n/a
32	POLR2A	chr4:1240710-1244234	K562	blood:	n/a	n/a
33	POLR2A	chr4:1240322-1244504	GM12891	blood:	n/a	n/a
34	MYC	chr4:1240563-1243638	NB4	blood:	n/a	chr4:1241594-1241604 chr4:1241554-1241564 chr4:1241434-1241443 chr4:1241433-1241443
35	POLR2A	chr4:1241019-1244546	MCF-7	breast:	n/a	n/a
36	POLR2A	chr4:1240296-1244152	GM18951	blood:	n/a	n/a
37	POLR2A	chr4:1238918-1244163	GM12878	blood:	n/a	n/a
38	POLR2A	chr4:1241325-1241581	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr4:1239852-1245445	GM12892	blood:	n/a	n/a
40	POLR2A	chr4:1241519-1242613	Hela-S3	cervix:	n/a	n/a
41	MXI1	chr4:1240283-1244361	GM12878	blood:	n/a	chr4:1242014-1242023
42	YY1	chr4:1241224-1242581	HepG2	liver:	n/a	chr4:1242380-1242391 chr4:1241911-1241923 chr4:1242412-1242423 chr4:1241880-1241894 chr4:1242451-1242465 chr4:1241912-1241920
43	GABPA	chr4:1241491-1242314	H1-hESC	embryonic stem cell:	n/a	chr4:1241935-1241944
44	MAX	chr4:1241105-1241664	H1-hESC	embryonic stem cell:	n/a	chr4:1241594-1241604 chr4:1241554-1241564 chr4:1241434-1241443 chr4:1241433-1241443
45	POLR2A	chr4:1239738-1242639	GM12878	blood:	n/a	n/a
46	POLR2A	chr4:1241306-1241589	HCT-116	colon:	n/a	n/a
47	MAX	chr4:1240752-1242705	K562	blood:	n/a	chr4:1241594-1241604 chr4:1241554-1241564 chr4:1241434-1241443 chr4:1241433-1241443
48	POLR2A	chr4:1239867-1245313	HepG2	liver:	n/a	n/a
49	HCFC1	chr4:1241276-1242775	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr4:1241185-1243865	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:1241391..1244976-chr4:1289369..1292052,3	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	chr4:1201438..1204113-chr4:1239051..1243365,5	MCF-7	breast:
9	chr4:986510..988350-chr4:1240959..1243694,2	MCF-7	breast:
10	chr4:1145908..1147956-chr4:1241044..1242592,2	MCF-7	breast:
11	chr4:1158166..1163360-chr4:1238498..1245354,13	MCF-7	breast:
12	chr4:1005389..1008246-chr4:1241169..1243031,3	K562	blood:
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	chr4:990681..994690-chr4:1238010..1243594,6	MCF-7	breast:
25	chr11:62432567..62434148-chr4:1241541..1243058,2	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	chr4:1020274..1022764-chr4:1238213..1242920,4	MCF-7	breast:
29	chr4:1216435..1221821-chr4:1240439..1244617,5	MCF-7	breast:
30	chr4:1241391..1244102-chr4:1870513..1873994,3	MCF-7	breast:
31	chr4:1240362..1242023-chr4:1330911..1332884,2	MCF-7	breast:
32	chr4:1240615..1242380-chr4:1393657..1396651,2	MCF-7	breast:
33	chr4:1005389..1007539-chr4:1241239..1243031,2	K562	blood:
34	chr4:1238004..1248980-chr4:1275065..1286840,30	K562	blood:
35	chr4:1238004..1246805-chr4:1279798..1288475,25	K562	blood:

Variant related genes	Relation type
CTBP1-AS2	TF binding region
ENSG00000132825	Chromatin interaction
ENSG00000250259	Chromatin interaction
ENSG00000273179	Chromatin interaction
ENSG00000127415	Chromatin interaction
ENSG00000240455	Chromatin interaction
ENSG00000206597	Chromatin interaction
ENSG00000111669	Chromatin interaction
ENSG00000215367	Chromatin interaction
ENSG00000214756	Chromatin interaction
ENSG00000127418	Chromatin interaction
ENSG00000162194	Chromatin interaction
ENSG00000109685	Chromatin interaction
ENSG00000159692	Chromatin interaction
ENSG00000090316	Chromatin interaction
ENSG00000199004	Chromatin interaction
ENSG00000145217	Chromatin interaction
ENSG00000196227	Chromatin interaction
ENSG00000255432	Chromatin interaction
ENSG00000178222	Chromatin interaction
ENSG00000244459	Chromatin interaction
ENSG00000163945	Chromatin interaction
ENSG00000227189	Chromatin interaction
ENSG00000159674	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

Variant overlapped rSNPs/rCNVs (count:43 , 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
43	esv3422320	chr4:1241377-1243925	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13149599	CTBP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1237000-1241800	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr4:1239400-1241600	Flanking Active TSS	Colonic Mucosa	Colon
3	chr4:1239600-1241600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
4	chr4:1239800-1241800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
5	chr4:1239800-1241800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr4:1239800-1242000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:1240000-1241600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr4:1240000-1241800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr4:1240000-1241800	Transcr. at gene 5' and 3'	Dnd41	blood
10	chr4:1240200-1241600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr4:1240200-1241600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
12	chr4:1240200-1241800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr4:1240200-1241800	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr4:1240200-1241800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
15	chr4:1240200-1242400	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr4:1240400-1241600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr4:1240400-1242000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr4:1240400-1242000	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr4:1240400-1242400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
20	chr4:1240400-1243800	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr4:1240400-1244200	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr4:1240600-1241600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr4:1240600-1241800	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
24	chr4:1240600-1241800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr4:1240800-1241600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
26	chr4:1240800-1241800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr4:1240800-1243600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr4:1240800-1243600	Active TSS	HSMMtube	muscle
29	chr4:1241000-1241600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr4:1241000-1242400	Active TSS	GM12878-XiMat	blood
31	chr4:1241000-1243600	Active TSS	A549	lung
32	chr4:1241000-1244000	Active TSS	H9 Cell Line	embryonic stem cell
33	chr4:1241000-1244200	Active TSS	Ovary	ovary
34	chr4:1241200-1242200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr4:1241200-1242400	Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr4:1241200-1242400	Active TSS	Fetal Kidney	kidney
37	chr4:1241200-1243400	Active TSS	NHLF	lung
38	chr4:1241200-1243600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:1241200-1243600	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr4:1241200-1243600	Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr4:1241200-1243600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
42	chr4:1241200-1243600	Active TSS	Primary T cells from cord blood	blood
43	chr4:1241200-1243600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
44	chr4:1241200-1243600	Active TSS	Sigmoid Colon	Sigmoid Colon
45	chr4:1241200-1243600	Active TSS	Hela-S3	cervix
46	chr4:1241200-1243800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr4:1241200-1243800	Active TSS	Aorta	Aorta
48	chr4:1241200-1243800	Active TSS	Brain Angular Gyrus	brain
49	chr4:1241200-1243800	Active TSS	Brain Anterior Caudate	brain
50	chr4:1241200-1243800	Active TSS	Colon Smooth Muscle	Colon

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