Variant report

Variant	rs606458
Chromosome Location	chr11:64546391-64546392
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	USF1	chr11:64546047-64546668	A549	lung:	n/a	n/a
2	CTCF	chr11:64546300-64546450	Caco-2	colon:	n/a	chr11:64546412-64546421 chr11:64546409-64546427 chr11:64546412-64546425
3	POLR2A	chr11:64544725-64546892	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr11:64546280-64546430	HCM	heart:	n/a	chr11:64546412-64546421 chr11:64546409-64546427 chr11:64546412-64546425
5	SP2	chr11:64545938-64546576	K562	blood:	n/a	chr11:64546272-64546287 chr11:64546317-64546327
6	RAD21	chr11:64546234-64546800	Hela-S3	cervix:	n/a	chr11:64546413-64546426 chr11:64546415-64546425
7	CTCF	chr11:64546280-64546430	GM12865	blood:	n/a	chr11:64546412-64546421 chr11:64546409-64546427 chr11:64546412-64546425
8	POLR2A	chr11:64545731-64547026	GM12878	blood:	n/a	n/a
9	CTCF	chr11:64546320-64546470	GM12864	blood:	n/a	chr11:64546412-64546421 chr11:64546409-64546427 chr11:64546412-64546425
10	POLR2A	chr11:64545014-64546784	GM18526	blood:	n/a	n/a
11	MTA3	chr11:64545666-64547386	GM12878	blood:	n/a	n/a
12	GTF2F1	chr11:64546142-64546610	K562	blood:	n/a	n/a
13	YY1	chr11:64545043-64546751	HepG2	liver:	n/a	chr11:64546180-64546192 chr11:64546174-64546194 chr11:64546648-64546659 chr11:64546405-64546416
14	POLR2A	chr11:64545751-64546870	K562	blood:	n/a	n/a
15	FOXP2	chr11:64545762-64546700	PFSK-1	brain:	n/a	n/a
16	MYC	chr11:64546040-64546965	H1-hESC	embryonic stem cell:	n/a	chr11:64546611-64546620 chr11:64546607-64546616
17	ZBTB33	chr11:64546074-64546678	K562	blood:	n/a	chr11:64546360-64546375
18	MAX	chr11:64544881-64546733	K562	blood:	n/a	chr11:64546611-64546620 chr11:64546607-64546616
19	CTCF	chr11:64546351-64546488	GM12892	blood:	n/a	chr11:64546412-64546421 chr11:64546409-64546427 chr11:64546412-64546425
20	HMGN3	chr11:64546244-64546430	K562	blood:	n/a	n/a
21	POLR2A	chr11:64545779-64546703	HCT-116	colon:	n/a	n/a
22	RCOR1	chr11:64545787-64546934	Hela-S3	cervix:	n/a	n/a
23	RFX5	chr11:64546197-64546701	K562	blood:	n/a	chr11:64546318-64546327 chr11:64546606-64546621 chr11:64546606-64546621 chr11:64546606-64546621 chr11:64546605-64546622 chr11:64546608-64546621
24	CHD2	chr11:64545812-64546710	HepG2	liver:	n/a	chr11:64546633-64546643
25	JUND	chr11:64546264-64546808	H1-hESC	embryonic stem cell:	n/a	chr11:64546317-64546326
26	GABPA	chr11:64546231-64546786	K562	blood:	n/a	chr11:64546509-64546520 chr11:64546509-64546518 chr11:64546506-64546520 chr11:64546509-64546523
27	SP4	chr11:64546100-64546689	H1-hESC	embryonic stem cell:	n/a	chr11:64546265-64546276 chr11:64546276-64546287
28	ZNF384	chr11:64546241-64547116	GM12878	blood:	n/a	n/a
29	CTCF	chr11:64546280-64546430	HEK293	kidney:	n/a	chr11:64546412-64546421 chr11:64546409-64546427 chr11:64546412-64546425
30	PML	chr11:64545874-64546437	GM12878	blood:	n/a	n/a
31	POLR2A	chr11:64544967-64546747	IMR90	lung:	n/a	n/a
32	CUX1	chr11:64546189-64546935	K562	blood:	n/a	n/a
33	CREB1	chr11:64545705-64546874	GM12878	blood:	n/a	chr11:64546590-64546603
34	CTCF	chr11:64546340-64546490	BJ	skin:	n/a	chr11:64546412-64546421 chr11:64546409-64546427 chr11:64546412-64546425
35	POLR2A	chr11:64544915-64546776	ProgFib	skin:	n/a	n/a
36	GABPA	chr11:64546343-64546742	HepG2	liver:	n/a	chr11:64546509-64546520 chr11:64546509-64546518 chr11:64546506-64546520 chr11:64546509-64546523
37	POLR2A	chr11:64546065-64546430	HepG2	liver:	n/a	n/a
38	TBL1XR1	chr11:64546066-64546843	GM12878	blood:	n/a	n/a
39	ATF3	chr11:64546309-64546819	K562	blood:	n/a	chr11:64546592-64546600 chr11:64546593-64546600 chr11:64546592-64546603 chr11:64546589-64546604 chr11:64546655-64546664
40	SP1	chr11:64545922-64546701	H1-hESC	embryonic stem cell:	n/a	chr11:64546278-64546287 chr11:64546407-64546416 chr11:64546265-64546276 chr11:64546641-64546653 chr11:64546406-64546420 chr11:64546308-64546329 chr11:64546642-64546651 chr11:64546276-64546287 chr11:64546641-64546653 chr11:64546643-64546652
41	SP2	chr11:64546310-64546540	K562	blood:	n/a	chr11:64546317-64546327
42	BCL3	chr11:64546086-64546906	A549	lung:	n/a	chr11:64546501-64546510
43	E2F4	chr11:64545903-64546828	MCF10A-Er-Src	breast:	n/a	chr11:64546591-64546600 chr11:64546319-64546328 chr11:64546593-64546602 chr11:64546510-64546519
44	POLR2A	chr11:64545728-64546684	HepG2	liver:	n/a	n/a
45	SPI1	chr11:64546068-64546986	HL-60	blood:	n/a	chr11:64546699-64546708 chr11:64546698-64546711
46	ATF2	chr11:64546059-64546924	GM12878	blood:	n/a	chr11:64546589-64546603 chr11:64546591-64546602
47	UBTF	chr11:64546358-64546528	K562	blood:	n/a	n/a
48	ATF2	chr11:64546042-64546833	H1-hESC	embryonic stem cell:	n/a	chr11:64546589-64546603 chr11:64546591-64546602
49	YY1	chr11:64545743-64546723	SK-N-SH_RA	brain:	n/a	chr11:64546180-64546192 chr11:64546174-64546194 chr11:64546648-64546659 chr11:64546405-64546416
50	CTCF	chr11:64546340-64546490	HMF	breast:	n/a	chr11:64546412-64546421 chr11:64546409-64546427 chr11:64546412-64546425

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:64546368-64546418	HNPCEpiC	eye:	n/a
2	chr11:64546383-64546433	SK-N-SH	brain:	n/a
3	chr11:64546368-64546418	HepG2	liver:	n/a
4	chr11:64546351-64546401	PrEC	prostate:	n/a
5	chr11:64546368-64546418	HUVEC	blood vessel:	n/a
6	chr11:64546351-64546401	HNPCEpiC	eye:	n/a
7	chr11:64546351-64546401	MCF10A-Er-Src	breast:	n/a
8	chr11:64546383-64546433	BJ	skin:	n/a
9	chr11:64546351-64546401	H1-hESC	embryonic stem cell:	embryo
10	chr11:64546383-64546433	ProgFib	skin:	n/a
11	chr11:64546368-64546418	HRPEpiC	eye:	n/a
12	chr11:64546368-64546418	HCF	heart:	n/a
13	chr11:64546368-64546418	GM19239	blood:	n/a
14	chr11:64546370-64546420	PFSK-1	brain:	n/a
15	chr11:64546370-64546420	SKMC	muscle:	n/a
16	chr11:64546383-64546433	Hepatocyte	liver:	n/a
17	chr11:64546368-64546418	NHDF-neo	bronchial:	n/a
18	chr11:64546383-64546433	MCF-7	breast:	n/a
19	chr11:64546351-64546401	GM12878	blood:	n/a
20	chr11:64546383-64546433	HCT-116	colon:	n/a
21	chr11:64546383-64546433	AG09309	skin:	n/a
22	chr11:64546370-64546420	CMK	blood:	n/a
23	chr11:64546383-64546433	HCM	heart:	n/a
24	chr11:64546370-64546420	GM06990	blood:	n/a
25	chr11:64546368-64546418	HMEC	breast:	n/a
26	chr11:64546370-64546420	IMR90	lung:	fetal
27	chr11:64546368-64546418	MCF10A-Er-Src	breast:	n/a
28	chr11:64546351-64546401	HEEpiC	esophagus:	n/a
29	chr11:64546368-64546418	HEEpiC	esophagus:	n/a
30	chr11:64546351-64546401	SKMC	muscle:	n/a
31	chr11:64546368-64546418	GM12892	blood:	n/a
32	chr11:64546383-64546433	HNPCEpiC	eye:	n/a
33	chr11:64546370-64546420	MCF-7	breast:	n/a
34	chr11:64546383-64546433	GM19239	blood:	n/a
35	chr11:64546370-64546420	Hepatocyte	liver:	n/a
36	chr11:64546383-64546433	LNCaP	prostate:	n/a
37	chr11:64546370-64546420	MCF10A-Er-Src	breast:	n/a
38	chr11:64546370-64546420	A549	lung:	n/a
39	chr11:64546351-64546401	HRCEpiC	kidney:	n/a
40	chr11:64546351-64546401	Hela-S3	cervix:	n/a
41	chr11:64546383-64546433	CMK	blood:	n/a
42	chr11:64546351-64546401	HL-60	blood:	n/a
43	chr11:64546370-64546420	HL-60	blood:	n/a
44	chr11:64546368-64546418	ovcar-3	ovarian:	n/a
45	chr11:64546368-64546418	AoSMC	blood vessel:	n/a
46	chr11:64546351-64546401	HCM	heart:	n/a
47	chr11:64546383-64546433	A549	lung:	n/a
48	chr11:64546370-64546420	NH-A	brain:	n/a
49	chr11:64546370-64546420	AG04449	skin:	fetal
50	chr11:64546351-64546401	CMK	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:64543661..64548104-chr11:64572931..64579605,12	MCF-7	breast:
2	chr11:64544768..64548246-chr11:64552203..64559348,13	K562	blood:
3	chr11:64544180..64546675-chr11:64850197..64851760,2	MCF-7	breast:
4	chr11:64544794..64547284-chr11:64888785..64891243,2	MCF-7	breast:
5	chr11:64544371..64546795-chr11:65624012..65625591,2	K562	blood:
6	chr11:64542437..64548103-chr11:64565883..64573066,9	K562	blood:
7	chr11:64544093..64548175-chr11:64656540..64660044,4	K562	blood:
8	chr11:64083115..64085565-chr11:64544305..64546685,2	K562	blood:
9	chr11:64544525..64547813-chr11:64683284..64685866,4	K562	blood:
10	chr11:64544849..64546983-chr11:64621402..64625371,3	K562	blood:
11	11:64544826-64559210..11:64658316-64660295	GM12878	blood:
12	chr11:64545114..64546892-chr11:65188018..65190269,2	K562	blood:
13	chr11:64545186..64547005-chr11:64690556..64693336,2	K562	blood:
14	chr11:64544026..64547354-chr11:64610476..64614597,11	MCF-7	breast:
15	chr11:64544838..64547533-chr11:64621296..64624223,3	MCF-7	breast:
16	chr11:64543951..64548420-chr11:64681372..64686852,8	K562	blood:
17	chr11:64017295..64020181-chr11:64543928..64546600,2	MCF-7	breast:
18	chr11:64543744..64547403-chr11:64610118..64615032,5	K562	blood:
19	chr11:64543854..64548930-chr11:64577046..64580073,7	K562	blood:
20	chr11:64545204..64548174-chr11:64901244..64903002,2	MCF-7	breast:
21	chr11:64510354..64515027-chr11:64543156..64548358,11	K562	blood:
22	chr11:64543733..64546506-chr11:64646290..64648884,3	K562	blood:
23	chr11:64544644..64548990-chr11:64609868..64612302,3	K562	blood:
24	chr11:64544683..64548200-chr11:64565443..64572182,16	MCF-7	breast:
25	chr11:64543629..64546477-chr11:65627505..65629510,2	K562	blood:
26	chr11:64544159..64547610-chr11:64575495..64579776,5	K562	blood:
27	chr11:64543505..64547238-chr11:64690556..64694712,4	K562	blood:
28	chr11:64543298..64549423-chr11:64566945..64572163,10	K562	blood:
29	chr11:64544574..64547411-chr11:64891542..64893399,2	MCF-7	breast:
30	chr11:64544278..64548048-chr11:64882517..64885401,5	K562	blood:
31	chr11:64543433..64548261-chr11:64608025..64614805,12	MCF-7	breast:
32	chr11:64546052..64548172-chr11:64880141..64881711,2	MCF-7	breast:
33	chr11:64545086..64548013-chr11:64793511..64795283,2	K562	blood:
34	chr11:64008164..64010074-chr11:64544584..64546736,2	MCF-7	breast:
35	chr11:64545248..64547245-chr11:64807000..64808581,2	MCF-7	breast:
36	chr11:64544093..64547951-chr11:64656650..64658815,3	K562	blood:
37	chr11:64544538..64546780-chr11:64879402..64882290,2	MCF-7	breast:
38	chr11:64545301..64547974-chr11:64645436..64647559,2	MCF-7	breast:
39	chr11:64490193..64492198-chr11:64544563..64546459,2	MCF-7	breast:
40	chr11:64544868..64546634-chr11:64879312..64880839,2	K562	blood:
41	chr11:64544925..64547758-chr20:62611021..62613328,2	MCF-7	breast:
42	chr11:64509463..64511820-chr11:64545145..64547148,2	MCF-7	breast:
43	chr11:64544182..64546603-chr11:64644783..64646727,4	MCF-7	breast:
44	chr11:64544849..64546824-chr11:64622424..64625371,2	K562	blood:
45	chr11:64544471..64546951-chr11:64883207..64885206,3	K562	blood:
46	chr11:64545581..64546435-chr2:20646790..20647326,2	Hela-S3	cervix:
47	chr11:64545646..64546446-chr8:42697559..42698482,2	Hela-S3	cervix:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPP2R5B-5	chr11:64546318-64548591	NONHSAT022024

Variant related genes	Relation type
SF1	TF binding region
ENSG00000269038	TF binding region
ENSG00000269038	CpG island
SF1	CpG island
ENSG00000149792	Chromatin interaction
ENSG00000207648	Chromatin interaction
ENSG00000131931	Chromatin interaction
ENSG00000168067	Chromatin interaction
ENSG00000149782	Chromatin interaction
ENSG00000068971	Chromatin interaction
ENSG00000143878	Chromatin interaction
ENSG00000203400	Chromatin interaction
ENSG00000110046	Chromatin interaction
ENSG00000068831	Chromatin interaction
ENSG00000133895	Chromatin interaction
ENSG00000126432	Chromatin interaction
ENSG00000174276	Chromatin interaction
ENSG00000149806	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000130590	Chromatin interaction
ENSG00000255173	Chromatin interaction
ENSG00000173113	Chromatin interaction
ENSG00000245532	Chromatin interaction
ENSG00000173486	Chromatin interaction
ENSG00000110076	Chromatin interaction
ENSG00000101161	Chromatin interaction
ENSG00000146670	Chromatin interaction
ENSG00000171219	Chromatin interaction
ENSG00000270775	Chromatin interaction
ENSG00000149809	Chromatin interaction
ENSG00000162298	Chromatin interaction
ENSG00000168061	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000229719	Chromatin interaction
ENSG00000269290	Chromatin interaction
ENSG00000110025	Chromatin interaction
ENSG00000267804	Chromatin interaction
ENSG00000162300	Chromatin interaction
ENSG00000172732	Chromatin interaction

Extended variants
information (count: 78 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10897524	0.88[TSI][hapmap];0.89[EUR][1000 genomes]
rs10897525	0.84[MEX][hapmap]
rs11231853	0.86[CEU][hapmap]
rs11231859	1.00[CEU][hapmap];0.89[MEX][hapmap];0.82[TSI][hapmap];0.87[EUR][1000 genomes]
rs11231869	0.81[CHB][hapmap];0.95[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.84[MEX][hapmap];0.90[ASN][1000 genomes]
rs1143937	1.00[CEU][hapmap];0.86[GIH][hapmap];0.84[MEX][hapmap]
rs1633462	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17146121	0.89[CEU][hapmap];0.84[MEX][hapmap]
rs2003293	0.87[EUR][1000 genomes]
rs2073798	0.81[CHB][hapmap];0.86[GIH][hapmap];0.94[MEX][hapmap];0.82[TSI][hapmap]
rs2230414	0.87[EUR][1000 genomes]
rs2267918	1.00[CEU][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.89[EUR][1000 genomes]
rs2284301	1.00[CEU][hapmap];0.88[MEX][hapmap];0.88[TSI][hapmap];0.89[EUR][1000 genomes]
rs2375335	0.92[EUR][1000 genomes]
rs2959652	1.00[CEU][hapmap];0.81[CHB][hapmap];0.86[GIH][hapmap];0.94[MEX][hapmap];0.94[TSI][hapmap];0.92[EUR][1000 genomes]
rs3741398	1.00[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.89[MEX][hapmap];0.88[TSI][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3809076	0.89[CEU][hapmap];0.84[MEX][hapmap];0.82[TSI][hapmap];0.86[EUR][1000 genomes]
rs474707	0.81[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.94[MEX][hapmap];0.94[TSI][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs476037	0.89[CEU][hapmap];0.84[MEX][hapmap]
rs477549	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.94[MEX][hapmap];0.88[TSI][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs483962	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.94[TSI][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs487105	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.88[TSI][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs489192	1.00[CEU][hapmap];0.81[CHB][hapmap];0.86[GIH][hapmap];0.84[MEX][hapmap];0.82[TSI][hapmap]
rs490980	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs494128	0.90[EUR][1000 genomes]
rs496914	1.00[CEU][hapmap];0.94[MEX][hapmap];0.88[TSI][hapmap];0.89[EUR][1000 genomes]
rs523200	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs523752	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs532747	0.84[MEX][hapmap]
rs547066	0.85[GIH][hapmap];0.83[MEX][hapmap]
rs569602	0.81[CHB][hapmap];0.84[MEX][hapmap]
rs580374	0.89[EUR][1000 genomes]
rs58483071	0.87[EUR][1000 genomes]
rs589691	1.00[CEU][hapmap];0.81[CHB][hapmap];0.86[GIH][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs593394	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs607389	1.00[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs620006	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs624975	0.90[CEU][hapmap];0.82[GIH][hapmap];0.84[MEX][hapmap]
rs625172	0.81[CHB][hapmap];0.86[GIH][hapmap];0.94[MEX][hapmap];0.82[TSI][hapmap]
rs633923	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs637332	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.94[TSI][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs667237	0.87[EUR][1000 genomes]
rs669976	0.90[CEU][hapmap];0.86[GIH][hapmap];0.84[MEX][hapmap]
rs674297	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs677298	1.00[CEU][hapmap]
rs680273	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs683841	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs684720	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs693235	0.90[CEU][hapmap];0.94[MEX][hapmap];0.88[TSI][hapmap]
rs72643567	0.81[EUR][1000 genomes]
rs72643568	0.81[EUR][1000 genomes]
rs7939965	0.89[CEU][hapmap];0.84[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897694	chr11:64334114-64584959	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv818842	chr11:64345448-64546391	Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv528506	chr11:64345448-64701030	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
4	nsv555196	chr11:64357072-64559898	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
5	nsv897695	chr11:64357072-64701030	Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
6	nsv555198	chr11:64373899-64573589	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
7	nsv897697	chr11:64447420-64584959	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
8	nsv897698	chr11:64447420-64621573	Active TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
9	nsv897699	chr11:64447420-64638041	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
10	nsv897700	chr11:64447420-64701030	Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1071 gene(s)	inside rSNPs	diseases
11	nsv555202	chr11:64477050-64573589	Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
12	nsv468597	chr11:64477050-64584959	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
13	nsv468598	chr11:64477050-64584959	Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
14	nsv555203	chr11:64477050-64584959	Strong transcription Genic enhancers Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
15	nsv1049744	chr11:64486615-64630149	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
16	nsv832189	chr11:64487183-64620199	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
17	nsv469962	chr11:64527080-64621573	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
18	nsv897702	chr11:64532579-64584231	Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
19	nsv825947	chr11:64538092-64550927	Active TSS Flanking Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
20	nsv897703	chr11:64538346-64574200	Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
21	nsv825948	chr11:64541003-64550185	Weak transcription Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
22	esv3323089	chr11:64543376-64547574	Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
23	esv3341708	chr11:64544401-64546949	Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
24	esv3331228	chr11:64544551-64546874	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
25	nsv519117	chr11:64546391-64573589	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
26	nsv519478	chr11:64546391-64584987	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Urate levels	21768215	GWAS catalog

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs606458	PYGM	cis	cerebellum	SCAN
rs606458	CABP2	cis	parietal	SCAN
rs606458	LRRN4CL	cis	cerebellum	SCAN
rs606458	SF1	cis	lymphoblastoid	seeQTL
rs606458	ANKRD13D	cis	parietal	SCAN
rs606458	PYGM	cis	parietal	SCAN
rs606458	TMEM138	cis	cerebellum	SCAN
rs606458	EHD1	cis	cerebellum	SCAN
rs606458	POLA2	cis	cerebellum	SCAN
rs606458	TMEM138	cis	parietal	SCAN
rs606458	SF1	cis	multi-tissue	Pritchard
rs606458	SF1	Cis_1M	lymphoblastoid	RTeQTL
rs606458	B3GNT1	cis	cerebellum	SCAN
rs606458	MALAT1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64544200-64547000	Active TSS	Aorta	Aorta
2	chr11:64544400-64547200	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr11:64544400-64547200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr11:64544400-64547200	Active TSS	H9 Cell Line	embryonic stem cell
5	chr11:64544400-64547200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:64544600-64546400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr11:64544600-64546400	Active TSS	Lung	lung
8	chr11:64544600-64546800	Active TSS	HSMM	muscle
9	chr11:64544600-64546800	Active TSS	NHLF	lung
10	chr11:64544600-64547000	Active TSS	Pancreas	Pancrea
11	chr11:64544600-64547200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:64544600-64547200	Active TSS	Esophagus	oesophagus
13	chr11:64544600-64547200	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr11:64544600-64547200	Active TSS	Right Ventricle	heart
15	chr11:64544800-64546800	Active TSS	NH-A	brain
16	chr11:64544800-64547000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:64544800-64547000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr11:64544800-64547000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:64544800-64547000	Active TSS	Fetal Intestine Small	intestine
20	chr11:64544800-64547000	Active TSS	Left Ventricle	heart
21	chr11:64544800-64547000	Active TSS	Placenta Amnion	Placenta Amnion
22	chr11:64544800-64547000	Active TSS	HSMMtube	muscle
23	chr11:64544800-64547000	Active TSS	NHDF-Ad	bronchial
24	chr11:64544800-64547200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:64544800-64547200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr11:64544800-64547200	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr11:64544800-64547200	Active TSS	Fetal Brain Female	brain
28	chr11:64544800-64547200	Active TSS	Fetal Kidney	kidney
29	chr11:64544800-64547200	Active TSS	Psoas Muscle	Psoas
30	chr11:64544800-64547200	Active TSS	Sigmoid Colon	Sigmoid Colon
31	chr11:64544800-64547200	Active TSS	Small Intestine	intestine
32	chr11:64544800-64547200	Active TSS	Stomach Mucosa	stomach
33	chr11:64544800-64547400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr11:64544800-64547400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:64544800-64547400	Active TSS	Brain Anterior Caudate	brain
36	chr11:64544800-64547400	Active TSS	Stomach Smooth Muscle	stomach
37	chr11:64545000-64546600	Active TSS	Spleen	Spleen
38	chr11:64545000-64546800	Active TSS	Primary monocytes fromperipheralblood	blood
39	chr11:64545000-64546800	Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr11:64545000-64546800	Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr11:64545000-64546800	Active TSS	Brain Angular Gyrus	brain
42	chr11:64545000-64546800	Active TSS	Brain Hippocampus Middle	brain
43	chr11:64545000-64546800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr11:64545000-64546800	Active TSS	HUVEC	blood vessel
45	chr11:64545000-64546800	Active TSS	Monocytes-CD14+_RO01746	blood
46	chr11:64545000-64547000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr11:64545000-64547000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr11:64545000-64547000	Active TSS	Brain Cingulate Gyrus	brain
49	chr11:64545000-64547000	Active TSS	Brain Germinal Matrix	brain
50	chr11:64545000-64547000	Active TSS	Placenta	Placenta

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