Variant report

Variant	rs9631805
Chromosome Location	chr4:1283035-1283036
allele	C/T
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	POLR2A	chr4:1282350-1284268	Raji	blood:	n/a	n/a
2	UBTF	chr4:1282998-1284665	K562	blood:	n/a	n/a
3	POLR2A	chr4:1282719-1283890	PFSK-1	brain:	n/a	n/a
4	RCOR1	chr4:1282978-1283775	GM12878	blood:	n/a	n/a
5	MAX	chr4:1282933-1283870	ECC-1	luminal epithelium:	n/a	chr4:1283628-1283637 chr4:1283670-1283680
6	CHD1	chr4:1283013-1284639	GM12878	blood:	n/a	chr4:1283413-1283423 chr4:1283602-1283612
7	STAT5A	chr4:1282931-1283865	GM12878	blood:	n/a	n/a
8	TBP	chr4:1282994-1283906	H1-hESC	embryonic stem cell:	n/a	n/a
9	MAX	chr4:1282869-1284821	HepG2	liver:	n/a	chr4:1283628-1283637 chr4:1283941-1283951 chr4:1283670-1283680
10	POLR2A	chr4:1282198-1284076	SK-N-MC	brain:	n/a	n/a
11	POLR2A	chr4:1283000-1284272	MCF-7	breast:	n/a	n/a
12	POLR2A	chr4:1283018-1283932	GM19099	blood:	n/a	n/a
13	POLR2A	chr4:1282891-1284628	PBDE	blood:	n/a	n/a
14	MAX	chr4:1283011-1283878	SK-N-SH	brain:	n/a	chr4:1283628-1283637 chr4:1283670-1283680
15	POLR2A	chr4:1282854-1284068	HUVEC	blood vessel:	n/a	n/a
16	SP1	chr4:1282852-1283930	HCT-116	colon:	n/a	chr4:1283603-1283612 chr4:1283414-1283423 chr4:1283602-1283614 chr4:1283602-1283614 chr4:1283604-1283613
17	POLR2A	chr4:1282959-1283860	PFSK-1	brain:	n/a	n/a
18	SIN3AK20	chr4:1283025-1283812	SK-N-SH	brain:	n/a	n/a
19	POLR2A	chr4:1283006-1283933	NB4	blood:	n/a	n/a
20	MXI1	chr4:1283016-1284181	HepG2	liver:	n/a	n/a
21	KAP1	chr4:1282680-1283334	K562	blood:	n/a	n/a
22	MAX	chr4:1282928-1284823	K562	blood:	n/a	chr4:1283628-1283637 chr4:1283941-1283951 chr4:1283670-1283680
23	SMARCB1	chr4:1282950-1284288	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr4:1282639-1284872	K562	blood:	n/a	n/a
25	SIN3A	chr4:1282920-1284514	H1-hESC	embryonic stem cell:	n/a	chr4:1283199-1283207
26	SIN3AK20	chr4:1282902-1284041	HCT-116	colon:	n/a	n/a
27	POLR2A	chr4:1282967-1284578	GM18505	blood:	n/a	n/a
28	MAX	chr4:1282915-1283922	ECC-1	luminal epithelium:	n/a	chr4:1283628-1283637 chr4:1283670-1283680
29	MYC	chr4:1282722-1283843	MCF10A-Er-Src	breast:	n/a	chr4:1283628-1283637 chr4:1283670-1283680
30	POLR2A	chr4:1282943-1284684	MCF-7	breast:	n/a	n/a
31	MYBL2	chr4:1282894-1283909	HepG2	liver:	n/a	n/a
32	POLR2A	chr4:1282965-1283917	HCT-116	colon:	n/a	n/a
33	MTA3	chr4:1282955-1283976	GM12878	blood:	n/a	n/a
34	SP1	chr4:1282901-1284033	HCT-116	colon:	n/a	chr4:1283603-1283612 chr4:1283414-1283423 chr4:1283602-1283614 chr4:1283602-1283614 chr4:1283604-1283613
35	E2F6	chr4:1283006-1283848	K562	blood:	n/a	chr4:1283671-1283680 chr4:1283604-1283613 chr4:1283509-1283518 chr4:1283775-1283784
36	POLR2A	chr4:1282913-1283973	HL-60	blood:	n/a	n/a
37	MAX	chr4:1282907-1283908	H1-hESC	embryonic stem cell:	n/a	chr4:1283628-1283637 chr4:1283670-1283680
38	POLR2A	chr4:1282998-1284105	HUVEC	blood vessel:	n/a	n/a
39	POLR2A	chr4:1282275-1283911	GM12891	blood:	n/a	n/a
40	POLR2A	chr4:1283020-1283973	ProgFib	skin:	n/a	n/a
41	MAX	chr4:1282819-1284656	HCT-116	colon:	n/a	chr4:1283628-1283637 chr4:1283941-1283951 chr4:1283670-1283680
42	TBP	chr4:1283029-1284471	K562	blood:	n/a	n/a
43	MAX	chr4:1282938-1283940	A549	lung:	n/a	chr4:1283628-1283637 chr4:1283670-1283680
44	RUNX3	chr4:1282993-1283864	GM12878	blood:	n/a	n/a
45	MYC	chr4:1282907-1284555	NB4	blood:	n/a	chr4:1283628-1283637 chr4:1283941-1283951 chr4:1283670-1283680
46	POLR2A	chr4:1282341-1283929	GM12878	blood:	n/a	n/a
47	IRF1	chr4:1282718-1283902	K562	blood:	n/a	chr4:1282963-1282977 chr4:1282964-1282974 chr4:1282957-1282973 chr4:1282964-1282978 chr4:1283509-1283518 chr4:1282960-1282974
48	POLR2A	chr4:1282958-1283955	GM12878	blood:	n/a	n/a
49	E2F6	chr4:1282964-1283808	A549	lung:	n/a	chr4:1283671-1283680 chr4:1283604-1283613 chr4:1283509-1283518 chr4:1283775-1283784
50	ELF1	chr4:1282964-1283949	HCT-116	colon:	n/a	chr4:1283560-1283569 chr4:1283553-1283566

No.	Distal block	Cell Line	Cell type
1	chr4:1280840..1286312-chr4:1338111..1343712,9	K562	blood:
2	chr4:1280807..1287593-chr4:1339102..1342185,6	K562	blood:
3	chr4:1280977..1287340-chr4:1335495..1344055,33	MCF-7	breast:
4	chr4:1272489..1274226-chr4:1281012..1283397,2	K562	blood:
5	chr4:1238004..1246805-chr4:1279798..1288475,25	K562	blood:
6	chr10:112678380..112679153-chr4:1283021..1283576,2	Hela-S3	cervix:
7	chr4:1238004..1248980-chr4:1275065..1286840,30	K562	blood:
8	chr4:1204791..1207603-chr4:1281765..1283856,2	MCF-7	breast:
9	chr4:964532..968039-chr4:1281587..1285155,3	K562	blood:
10	chr4:1242091..1248517-chr4:1279714..1285424,16	MCF-7	breast:
11	chr4:1282437..1287650-chr4:1338224..1344043,13	MCF-7	breast:
12	chr4:1236833..1250005-chr4:1276188..1292579,54	MCF-7	breast:
13	chr4:1253458..1255471-chr4:1281681..1283215,2	K562	blood:
14	chr4:1233077..1236112-chr4:1282661..1284848,3	MCF-7	breast:
15	chr4:1159320..1162756-chr4:1282339..1286135,5	K562	blood:
16	chr4:1282479..1284255-chr4:1368607..1370125,2	K562	blood:
17	chr4:1005260..1007354-chr4:1282653..1285834,3	MCF-7	breast:

Variant related genes	Relation type
MAEA	TF binding region
ENSG00000273179	Chromatin interaction
ENSG00000127418	Chromatin interaction
ENSG00000145214	Chromatin interaction
ENSG00000159692	Chromatin interaction
ENSG00000196810	Chromatin interaction
ENSG00000214413	Chromatin interaction
ENSG00000163945	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10000874	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10023922	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10024013	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11247983	0.84[EUR][1000 genomes]
rs11726778	0.83[EUR][1000 genomes]
rs11727167	0.82[EUR][1000 genomes]
rs11730939	0.82[EUR][1000 genomes]
rs11735340	0.83[EUR][1000 genomes]
rs12502916	0.84[EUR][1000 genomes]
rs12509700	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13124847	0.84[EUR][1000 genomes]
rs13125338	0.84[EUR][1000 genomes]
rs13125842	0.84[EUR][1000 genomes]
rs13149575	0.83[EUR][1000 genomes]
rs13149715	0.84[EUR][1000 genomes]
rs13150571	0.84[EUR][1000 genomes]
rs1618072	0.84[EUR][1000 genomes]
rs1620928	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1680072	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1680073	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1680074	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1732099	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1732100	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1732102	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1732106	0.85[EUR][1000 genomes]
rs1732107	0.84[EUR][1000 genomes]
rs1732108	0.82[EUR][1000 genomes]
rs1732123	0.85[EUR][1000 genomes]
rs1732124	0.84[EUR][1000 genomes]
rs2293633	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2293634	0.83[EUR][1000 genomes]
rs28811276	0.84[EUR][1000 genomes]
rs4246685	0.84[EUR][1000 genomes]
rs4405964	0.84[EUR][1000 genomes]
rs4428235	0.84[EUR][1000 genomes]
rs4493483	0.84[EUR][1000 genomes]
rs4493484	0.83[EUR][1000 genomes]
rs4516656	0.84[EUR][1000 genomes]
rs4519749	0.84[EUR][1000 genomes]
rs4591539	0.84[EUR][1000 genomes]
rs4642180	0.84[EUR][1000 genomes]
rs4974582	0.84[EUR][1000 genomes]
rs4974584	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4974594	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62293658	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66987549	0.87[EUR][1000 genomes]
rs6826029	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7668661	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7670046	0.81[EUR][1000 genomes]
rs7673398	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs900027	0.84[EUR][1000 genomes]
rs900028	0.84[EUR][1000 genomes]
rs900029	0.84[EUR][1000 genomes]
rs922698	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9631804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9992932	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9992934	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:31 , 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	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	nsv461156	chr4:1254930-1312394	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers 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	16 gene(s)	inside rSNPs	diseases
21	nsv593299	chr4:1254930-1312394	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
22	esv1798897	chr4:1265740-1287474	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
23	esv1833294	chr4:1265740-1287474	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
24	esv1829934	chr4:1265940-1287274	Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
25	nsv593300	chr4:1272664-1312394	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
26	nsv878338	chr4:1277826-1358449	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
27	nsv878339	chr4:1277826-1363886	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
28	nsv878340	chr4:1277826-1386570	Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
29	nsv878341	chr4:1277826-1391400	Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
30	esv3402251	chr4:1282477-1285325	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
31	nsv1002635	chr4:1282603-1402761	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer 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	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs9631805	CTBP1	Cis_1M	lymphoblastoid	RTeQTL
rs9631805	UVSSA	cis	Thyroid	GTEx
rs9631805	CTBP1	cis	multi-tissue	Pritchard
rs9631805	UVSSA	cis	Skin Sun Exposed Lower leg	GTEx
rs9631805	CRIPAK	cis	Artery Aorta	GTEx
rs9631805	UVSSA	cis	Whole Blood	GTEx
rs9631805	CRIPAK	cis	Thyroid	GTEx
rs9631805	CRIPAK	cis	Esophagus Mucosa	GTEx
rs9631805	UVSSA	cis	Artery Aorta	GTEx
rs9631805	UVSSA	cis	lung	GTEx
rs9631805	UVSSA	cis	Stomach	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1282400-1285200	Active TSS	H9 Cell Line	embryonic stem cell
2	chr4:1282600-1283200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:1282600-1283200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr4:1282600-1283200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr4:1282600-1283200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr4:1282600-1283200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
7	chr4:1282600-1283200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
8	chr4:1282600-1283200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr4:1282600-1283200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:1282600-1283400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr4:1282600-1283400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:1282600-1283600	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr4:1282600-1284600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:1282600-1284600	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr4:1282600-1284600	Active TSS	Colonic Mucosa	Colon
16	chr4:1282600-1284600	Active TSS	Hela-S3	cervix
17	chr4:1282600-1284800	Active TSS	H1 Cell Line	embryonic stem cell
18	chr4:1282600-1284800	Active TSS	A549	lung
19	chr4:1282600-1285000	Active TSS	K562	blood
20	chr4:1282600-1285200	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr4:1282600-1285400	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr4:1282600-1285400	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr4:1282600-1285400	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr4:1282600-1285600	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr4:1282800-1283200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr4:1282800-1283200	Flanking Active TSS	Primary T cells from cord blood	blood
27	chr4:1282800-1283200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
28	chr4:1282800-1283200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr4:1282800-1283200	Flanking Active TSS	Brain Germinal Matrix	brain
30	chr4:1282800-1283200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
31	chr4:1282800-1283200	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr4:1282800-1283200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr4:1282800-1283200	Flanking Active TSS	Fetal Lung	lung
34	chr4:1282800-1283200	Flanking Active TSS	Fetal Muscle Leg	muscle
35	chr4:1282800-1283200	Flanking Active TSS	Fetal Thymus	thymus
36	chr4:1282800-1283200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
37	chr4:1282800-1283200	Flanking Active TSS	Rectal Smooth Muscle	rectum
38	chr4:1282800-1283200	Enhancers	Small Intestine	intestine
39	chr4:1282800-1283200	Flanking Active TSS	Thymus	Thymus
40	chr4:1282800-1283200	Flanking Active TSS	HSMMtube	muscle
41	chr4:1282800-1283200	Flanking Active TSS	HUVEC	blood vessel
42	chr4:1282800-1283200	Flanking Active TSS	NH-A	brain
43	chr4:1282800-1283200	Flanking Active TSS	Osteobl	bone
44	chr4:1282800-1283400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr4:1282800-1283400	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr4:1282800-1283400	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr4:1282800-1283400	Flanking Active TSS	Liver	Liver
48	chr4:1282800-1283400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr4:1282800-1283400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr4:1282800-1283600	Active TSS	Right Atrium	heart

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