Variant report

Variant	rs13123016
Chromosome Location	chr4:1340889-1340890
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	CHD2	chr4:1339740-1341572	GM12878	blood:	n/a	chr4:1340991-1341001 chr4:1340986-1340996
2	USF1	chr4:1340497-1341141	SK-N-SH_RA	brain:	n/a	chr4:1340803-1340812 chr4:1340803-1340812 chr4:1340802-1340811
3	POLR2A	chr4:1340036-1341589	GM15510	blood:	n/a	n/a
4	SP2	chr4:1340741-1340996	K562	blood:	n/a	chr4:1340830-1340845 chr4:1340984-1340993
5	POLR2A	chr4:1339585-1341618	H1-neurons	neurons:	n/a	n/a
6	TAF1	chr4:1340827-1341548	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr4:1339619-1341579	H1-neurons	neurons:	n/a	n/a
8	POLR2A	chr4:1340224-1341548	GM10847	blood:	n/a	n/a
9	CCNT2	chr4:1339785-1341470	K562	blood:	n/a	chr4:1340680-1340689 chr4:1340814-1340823 chr4:1340985-1340994
10	CREB1	chr4:1340504-1341105	ECC-1	luminal epithelium:	n/a	n/a
11	NRF1	chr4:1340661-1340933	HepG2	liver:	n/a	chr4:1340751-1340765 chr4:1340754-1340765 chr4:1340814-1340823 chr4:1340754-1340765
12	TBP	chr4:1340391-1341567	K562	blood:	n/a	n/a
13	USF1	chr4:1340270-1341635	HCT-116	colon:	n/a	chr4:1340803-1340812 chr4:1340803-1340812 chr4:1340802-1340811 chr4:1341208-1341224
14	RELA	chr4:1340382-1341733	GM15510	blood:	n/a	n/a
15	BHLHE40	chr4:1340438-1341613	GM12878	blood:	n/a	chr4:1340803-1340812 chr4:1340803-1340812 chr4:1340802-1340811 chr4:1341208-1341224
16	SIN3AK20	chr4:1340245-1341778	MCF-7	breast:	n/a	n/a
17	FOXA1	chr4:1340801-1340991	T-47D	breast:	n/a	n/a
18	SIX5	chr4:1340566-1341045	GM12878	blood:	n/a	n/a
19	GABPA	chr4:1340324-1341566	SK-N-SH	brain:	n/a	chr4:1340751-1340765 chr4:1340754-1340765 chr4:1340814-1340823 chr4:1341080-1341089
20	ZBTB7A	chr4:1339579-1341606	ECC-1	luminal epithelium:	n/a	chr4:1341045-1341056 chr4:1340984-1340991
21	MAX	chr4:1340315-1341616	A549	lung:	n/a	chr4:1340648-1340658 chr4:1341316-1341326 chr4:1340801-1340816 chr4:1340802-1340813 chr4:1340802-1340812 chr4:1340803-1340812 chr4:1340802-1340813
22	SP1	chr4:1340313-1341250	GM12878	blood:	n/a	chr4:1340813-1340825 chr4:1340981-1340995 chr4:1340986-1340995 chr4:1340984-1340996 chr4:1340810-1340824 chr4:1340985-1340995 chr4:1340813-1340825 chr4:1340531-1340544 chr4:1340985-1340994 chr4:1340985-1340995 chr4:1340815-1340824 chr4:1340625-1340632 chr4:1340814-1340824 chr4:1340984-1340996 chr4:1340815-1340824 chr4:1340814-1340823 chr4:1340680-1340689 chr4:1340986-1340995 chr4:1340814-1340824 chr4:1340678-1340689
23	TCF12	chr4:1339625-1341010	ECC-1	luminal epithelium:	n/a	n/a
24	USF1	chr4:1340488-1341154	H1-hESC	embryonic stem cell:	n/a	chr4:1340803-1340812 chr4:1340803-1340812 chr4:1340802-1340811
25	POLR2A	chr4:1340193-1341577	HCT-116	colon:	n/a	n/a
26	POLR2A	chr4:1340472-1341507	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr4:1340827-1341598	H1-hESC	embryonic stem cell:	n/a	n/a
28	TAF1	chr4:1340065-1341583	HepG2	liver:	n/a	n/a
29	POLR2A	chr4:1340446-1341084	U87	brain:	n/a	n/a
30	TBL1XR1	chr4:1340532-1341093	K562	blood:	n/a	n/a
31	POLR2A	chr4:1340839-1341313	K562	blood:	n/a	n/a
32	TAF1	chr4:1340856-1341090	PFSK-1	brain:	n/a	n/a
33	POLR2A	chr4:1340334-1341902	HepG2	liver:	n/a	n/a
34	STAT3	chr4:1340400-1341014	MCF10A-Er-Src	breast:	n/a	chr4:1340675-1340687
35	PAX5	chr4:1340285-1341363	GM12892	blood:	n/a	chr4:1341206-1341215
36	MAX	chr4:1339958-1341790	ECC-1	luminal epithelium:	n/a	chr4:1340648-1340658 chr4:1341316-1341326 chr4:1340801-1340816 chr4:1340802-1340813 chr4:1340802-1340812 chr4:1340803-1340812 chr4:1340802-1340813
37	RFX5	chr4:1340567-1341486	GM12878	blood:	n/a	chr4:1340883-1340898
38	GABPA	chr4:1340287-1341680	SK-N-SH	brain:	n/a	chr4:1340751-1340765 chr4:1340754-1340765 chr4:1340814-1340823 chr4:1341080-1341089
39	GABPA	chr4:1340330-1341423	A549	lung:	n/a	chr4:1340751-1340765 chr4:1340754-1340765 chr4:1340814-1340823 chr4:1341080-1341089
40	ZNF143	chr4:1340183-1341614	H1-hESC	embryonic stem cell:	n/a	chr4:1341080-1341090
41	GABPA	chr4:1340477-1341171	K562	blood:	n/a	chr4:1340751-1340765 chr4:1340754-1340765 chr4:1340814-1340823 chr4:1341080-1341089
42	POLR2A	chr4:1340833-1341402	H1-hESC	embryonic stem cell:	n/a	n/a
43	SIN3A	chr4:1339817-1341720	GM12878	blood:	n/a	chr4:1339889-1339898 chr4:1340644-1340655
44	POLR2A	chr4:1340831-1341665	GM12892	blood:	n/a	n/a
45	JUND	chr4:1340482-1341106	H1-hESC	embryonic stem cell:	n/a	n/a
46	POLR2A	chr4:1339722-1341793	HUVEC	blood vessel:	n/a	n/a
47	ATF3	chr4:1340642-1341040	H1-hESC	embryonic stem cell:	n/a	chr4:1340719-1340732 chr4:1340720-1340733 chr4:1340720-1340731 chr4:1340720-1340731 chr4:1340722-1340732 chr4:1340814-1340823 chr4:1340721-1340735
48	CBX3	chr4:1340440-1341078	K562	blood:	n/a	n/a
49	MAX	chr4:1340569-1341063	H1-hESC	embryonic stem cell:	n/a	chr4:1340648-1340658 chr4:1340801-1340816 chr4:1340802-1340813 chr4:1340802-1340812 chr4:1340803-1340812 chr4:1340802-1340813
50	RUNX3	chr4:1340419-1341752	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:1340883-1340933	Caco-2	colon:	n/a
2	chr4:1340883-1340933	H1-hESC	embryonic stem cell:	embryo
3	chr4:1340883-1340933	SK-N-SH	brain:	n/a
4	chr4:1340886-1340936	HL-60	blood:	n/a
5	chr4:1340886-1340936	BE2_C	brain:	n/a
6	chr4:1340886-1340936	SK-N-SH	brain:	n/a
7	chr4:1340883-1340933	NH-A	brain:	n/a
8	chr4:1340883-1340933	RPTEC	kidney:	n/a
9	chr4:1340883-1340933	HRCEpiC	kidney:	n/a
10	chr4:1340883-1340933	AG09309	skin:	n/a
11	chr4:1340883-1340933	MCF10A-Er-Src	breast:	n/a
12	chr4:1340883-1340933	HEEpiC	esophagus:	n/a
13	chr4:1340886-1340936	AG04449	skin:	fetal
14	chr4:1340883-1340933	GM19239	blood:	n/a
15	chr4:1340883-1340933	AG09319	gingival:	n/a
16	chr4:1340886-1340936	HCM	heart:	n/a
17	chr4:1340883-1340933	NHBE	bronchial:	n/a
18	chr4:1340886-1340936	Hela-S3	cervix:	n/a
19	chr4:1340883-1340933	HUVEC	blood vessel:	n/a
20	chr4:1340886-1340936	A549	lung:	n/a
21	chr4:1340883-1340933	HEK293	kidney:	embryo
22	chr4:1340886-1340936	H1-hESC	embryonic stem cell:	embryo
23	chr4:1340883-1340933	SAEC	small airway:	n/a
24	chr4:1340886-1340936	U87	brain:	n/a
25	chr4:1340886-1340936	IMR90	lung:	fetal
26	chr4:1340886-1340936	HepG2	liver:	n/a
27	chr4:1340883-1340933	HAEpiC	amniotic membrane:	n/a
28	chr4:1340886-1340936	GM19239	blood:	n/a
29	chr4:1340886-1340936	PrEC	prostate:	n/a
30	chr4:1340886-1340936	AoSMC	blood vessel:	n/a
31	chr4:1340883-1340933	HNPCEpiC	eye:	n/a
32	chr4:1340883-1340933	AoSMC	blood vessel:	n/a
33	chr4:1340886-1340936	HCPEpiC	choroid plexus:	n/a
34	chr4:1340883-1340933	SK-N-SH_RA	brain:	n/a
35	chr4:1340886-1340936	SAEC	small airway:	n/a
36	chr4:1340886-1340936	AG09319	gingival:	n/a
37	chr4:1340883-1340933	Hela-S3	cervix:	n/a
38	chr4:1340886-1340936	ECC-1	luminal epithelium:	n/a
39	chr4:1340886-1340936	HRPEpiC	eye:	n/a
40	chr4:1340886-1340936	HPAEpiC	pulmonary alveolar:	n/a
41	chr4:1340883-1340933	HL-60	blood:	n/a
42	chr4:1340886-1340936	HMEC	breast:	n/a
43	chr4:1340883-1340933	NHDF-neo	bronchial:	n/a
44	chr4:1340883-1340933	Jurkat	blood:	n/a
45	chr4:1340883-1340933	BE2_C	brain:	n/a
46	chr4:1340886-1340936	HCF	heart:	n/a
47	chr4:1340886-1340936	Caco-2	colon:	n/a
48	chr4:1340886-1340936	ovcar-3	ovarian:	n/a
49	chr4:1340886-1340936	Jurkat	blood:	n/a
50	chr4:1340883-1340933	HRPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:1338699..1344021-chr4:1351274..1357737,7	MCF-7	breast:
2	chr4:1340887..1341514-chr6:27100502..27101039,2	Hela-S3	cervix:
3	chr4:1339666..1341352-chr4:1711949..1713755,2	K562	blood:
4	chr4:1236808..1249320-chr4:1336333..1343819,66	MCF-7	breast:
5	chr4:1242855..1243623-chr4:1340043..1341052,3	MCF-7	breast:
6	chr4:1338673..1343611-chr4:1344125..1350325,16	MCF-7	breast:
7	chr4:1282437..1287650-chr4:1338224..1344043,13	MCF-7	breast:
8	chr4:1340727..1343263-chr4:1721413..1722946,2	K562	blood:
9	chr4:1323033..1328941-chr4:1337055..1342245,8	MCF-7	breast:
10	chr4:1242623..1243687-chr4:1339944..1341149,3	MCF-7	breast:
11	chr4:986608..988273-chr4:1340868..1342438,2	K562	blood:
12	chr4:1242535..1243295-chr4:1339796..1341533,6	NB4	blood:
13	chr4:1339011..1342367-chr4:1367715..1370691,3	MCF-7	breast:
14	chr4:1280807..1287593-chr4:1339102..1342185,6	K562	blood:
15	chr4:679728..681770-chr4:1339441..1342302,2	K562	blood:
16	chr4:1340727..1342434-chr4:1721413..1723633,2	K562	blood:
17	chr4:1280840..1286312-chr4:1338111..1343712,9	K562	blood:
18	chr4:1240883..1245378-chr4:1339091..1342291,13	K562	blood:
19	chr4:1339117..1341001-chr4:1581105..1584040,2	K562	blood:
20	chr4:1235141..1249133-chr4:1336906..1347308,118	MCF-7	breast:
21	chr4:1339048..1342461-chr4:1794240..1796574,3	MCF-7	breast:
22	chr4:1280977..1287340-chr4:1335495..1344055,33	MCF-7	breast:
23	chr4:1313002..1315500-chr4:1338426..1340938,2	MCF-7	breast:
24	chr4:1339661..1343694-chr4:1344237..1349254,11	K562	blood:
25	chr4:1340826..1341472-chr6:136610471..136611015,2	NB4	blood:
26	chr4:1160924..1165328-chr4:1340425..1343058,5	MCF-7	breast:
27	chr4:984860..987749-chr4:1337412..1341360,3	MCF-7	breast:
28	chr4:1339729..1343240-chr4:1359477..1362445,4	MCF-7	breast:
29	chr4:1239502..1245378-chr4:1336996..1344860,21	K562	blood:

Variant related genes	Relation type
UVSSA	TF binding region
UVSSA	CpG island
ENSG00000253399	Chromatin interaction
ENSG00000196810	Chromatin interaction
ENSG00000159674	Chromatin interaction
ENSG00000159692	Chromatin interaction
ENSG00000127415	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000168936	Chromatin interaction
ENSG00000163945	Chromatin interaction
ENSG00000029363	Chromatin interaction
ENSG00000163950	Chromatin interaction
ENSG00000090316	Chromatin interaction
ENSG00000013810	Chromatin interaction
ENSG00000068078	Chromatin interaction
ENSG00000244459	Chromatin interaction
ENSG00000145217	Chromatin interaction
ENSG00000169026	Chromatin interaction
ENSG00000273179	Chromatin interaction
ENSG00000124635	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10016557	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10023473	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11247992	0.89[AMR][1000 genomes]
rs1137789	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1882098	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1882105	0.99[ASN][1000 genomes]
rs2336081	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28522910	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28614045	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28733902	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2878607	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3796618	0.83[ASN][1000 genomes]
rs4974554	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4974556	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4974606	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4974611	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4974612	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4974613	0.87[AMR][1000 genomes]
rs4974614	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4974617	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4974618	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6599308	0.97[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6599309	0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6838561	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6856550	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7664763	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7669940	0.83[AMR][1000 genomes]
rs7681872	0.84[AMR][1000 genomes]
rs9328733	0.86[AMR][1000 genomes]
rs9683830	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9996817	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:36 , 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	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	nsv878342	chr4:1291337-1363886	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
18	nsv878343	chr4:1291337-1391400	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
19	nsv878344	chr4:1291337-1414684	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
20	nsv878345	chr4:1291337-1563920	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
21	nsv461157	chr4:1300077-1352685	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
22	nsv593301	chr4:1300077-1352685	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
23	nsv878346	chr4:1300077-1363886	Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
24	nsv878347	chr4:1300077-1866358	Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
25	nsv878348	chr4:1305269-1386570	Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
26	esv1794294	chr4:1307119-1817474	Bivalent/Poised TSS Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
27	nsv878349	chr4:1318132-1363886	Weak transcription Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
28	nsv878350	chr4:1320023-1500753	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
29	nsv932661	chr4:1324751-1364014	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
30	nsv878351	chr4:1329847-1414684	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
31	nsv878352	chr4:1334721-1363886	Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
32	nsv1008785	chr4:1335089-1518521	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
33	nsv536988	chr4:1335089-1518521	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Genic enhancers 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	30 gene(s)	inside rSNPs	diseases
34	nsv593302	chr4:1338618-1414684	ZNF genes & repeats Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
35	esv3345580	chr4:1339177-1341725	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
36	esv3411134	chr4:1339777-1342325	Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs13123016	UVSSA	cis	Whole Blood	GTEx
rs13123016	CTBP1	Cis_1M	lymphoblastoid	RTeQTL
rs13123016	UVSSA	cis	Skin Sun Exposed Lower leg	GTEx
rs13123016	UVSSA	cis	Thyroid	GTEx
rs13123016	UVSSA	cis	lung	GTEx
rs13123016	CTBP1-AS2	cis	Thyroid	GTEx
rs13123016	UVSSA	cis	Stomach	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1338800-1342400	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr4:1339000-1341600	Active TSS	Osteobl	bone
3	chr4:1339000-1341800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:1339000-1342000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:1339000-1342000	Active TSS	HSMM	muscle
6	chr4:1339200-1341400	Active TSS	HMEC	breast
7	chr4:1339200-1341400	Active TSS	NH-A	brain
8	chr4:1339200-1341600	Active TSS	Muscle Satellite Cultured Cells	--
9	chr4:1339200-1342000	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr4:1339400-1341400	Active TSS	Primary T cells from cord blood	blood
11	chr4:1339400-1341400	Active TSS	HepG2	liver
12	chr4:1339400-1341600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr4:1339400-1341600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:1339400-1341600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:1339400-1341600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr4:1339400-1341600	Active TSS	Colon Smooth Muscle	Colon
17	chr4:1339400-1341600	Active TSS	Fetal Intestine Large	intestine
18	chr4:1339400-1341600	Active TSS	Fetal Kidney	kidney
19	chr4:1339400-1341600	Active TSS	Rectal Smooth Muscle	rectum
20	chr4:1339400-1341600	Active TSS	Thymus	Thymus
21	chr4:1339400-1341600	Active TSS	NHDF-Ad	bronchial
22	chr4:1339400-1341600	Active TSS	NHEK	skin
23	chr4:1339400-1341800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr4:1339400-1341800	Active TSS	Aorta	Aorta
25	chr4:1339400-1341800	Active TSS	Brain Hippocampus Middle	brain
26	chr4:1339400-1341800	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr4:1339400-1341800	Active TSS	Esophagus	oesophagus
28	chr4:1339400-1341800	Active TSS	A549	lung
29	chr4:1339400-1341800	Active TSS	HSMMtube	muscle
30	chr4:1339400-1341800	Active TSS	NHLF	lung
31	chr4:1339400-1342000	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr4:1339400-1342000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr4:1339400-1342000	Active TSS	H1 Cell Line	embryonic stem cell
34	chr4:1339400-1342000	Active TSS	H9 Cell Line	embryonic stem cell
35	chr4:1339400-1342000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr4:1339400-1342200	Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr4:1339400-1342200	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr4:1339400-1342200	Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr4:1339400-1342400	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr4:1339400-1342400	Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr4:1339400-1342800	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr4:1339600-1341400	Active TSS	Brain Anterior Caudate	brain
43	chr4:1339600-1341600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr4:1339600-1341600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr4:1339600-1341600	Active TSS	Fetal Intestine Small	intestine
46	chr4:1339600-1341600	Active TSS	Gastric	stomach
47	chr4:1339600-1341600	Active TSS	Lung	lung
48	chr4:1339600-1341800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr4:1339600-1341800	Active TSS	Ovary	ovary
50	chr4:1339600-1341800	Active TSS	Sigmoid Colon	Sigmoid Colon

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