Variant report

Variant	rs2549871
Chromosome Location	chr16:81038278-81038279
allele	C/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	CTCF	chr16:81038240-81038390	HAc	cerebellar:	n/a	n/a
2	CTCF	chr16:81038201-81038631	K562	blood:	n/a	chr16:81038422-81038432 chr16:81038417-81038435 chr16:81038419-81038440 chr16:81038420-81038433 chr16:81038420-81038429 chr16:81038418-81038434
3	CTCF	chr16:81038014-81038754	SK-N-SH	brain:	n/a	chr16:81038422-81038432 chr16:81038417-81038435 chr16:81038419-81038440 chr16:81038420-81038433 chr16:81038420-81038429 chr16:81038418-81038434
4	CTCF	chr16:81038277-81038530	Medullo	brain:	n/a	chr16:81038422-81038432 chr16:81038417-81038435 chr16:81038419-81038440 chr16:81038420-81038433 chr16:81038420-81038429 chr16:81038418-81038434
5	WRNIP1	chr16:81037862-81038278	GM12878	blood:	n/a	n/a
6	CTCF	chr16:81037917-81038862	HCT-116	colon:	n/a	chr16:81038422-81038432 chr16:81038417-81038435 chr16:81038419-81038440 chr16:81038420-81038433 chr16:81038420-81038429 chr16:81038418-81038434
7	TBP	chr16:81037949-81038675	GM12878	blood:	n/a	n/a
8	SMC3	chr16:81038267-81038579	HepG2	liver:	n/a	chr16:81038419-81038427 chr16:81038423-81038433 chr16:81038419-81038433
9	CTCF	chr16:81038260-81038410	MCF-7	breast:	n/a	n/a
10	RFX5	chr16:81038225-81038644	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr16:81038110-81038614	IMR90	lung:	n/a	chr16:81038422-81038432 chr16:81038417-81038435 chr16:81038419-81038440 chr16:81038420-81038433 chr16:81038420-81038429 chr16:81038418-81038434
12	CTCF	chr16:81038260-81038410	NHLF	lung:	n/a	n/a
13	TEAD4	chr16:81038139-81038626	HepG2	liver:	n/a	n/a
14	CTCF	chr16:81038160-81038310	RPTEC	kidney:	n/a	n/a
15	CTCF	chr16:81037967-81038767	A549	lung:	n/a	chr16:81038422-81038432 chr16:81038417-81038435 chr16:81038419-81038440 chr16:81038420-81038433 chr16:81038420-81038429 chr16:81038418-81038434
16	CTCF	chr16:81038118-81038689	HCT-116	colon:	n/a	chr16:81038422-81038432 chr16:81038417-81038435 chr16:81038419-81038440 chr16:81038420-81038433 chr16:81038420-81038429 chr16:81038418-81038434
17	EP300	chr16:81038226-81038603	K562	blood:	n/a	n/a
18	CTCF	chr16:81038202-81038622	HepG2	liver:	n/a	chr16:81038422-81038432 chr16:81038417-81038435 chr16:81038419-81038440 chr16:81038420-81038433 chr16:81038420-81038429 chr16:81038418-81038434
19	SMC3	chr16:81038261-81038632	GM12878	blood:	n/a	chr16:81038419-81038427 chr16:81038423-81038433 chr16:81038419-81038433
20	CTCF	chr16:81038255-81038540	ECC-1	luminal epithelium:	n/a	chr16:81038422-81038432 chr16:81038417-81038435 chr16:81038419-81038440 chr16:81038420-81038433 chr16:81038420-81038429 chr16:81038418-81038434
21	CTCF	chr16:81038260-81038410	RPTEC	kidney:	n/a	n/a
22	CTCF	chr16:81038200-81038350	WI-38	lung:	n/a	n/a
23	RAD21	chr16:81038179-81038594	Hela-S3	cervix:	n/a	chr16:81038418-81038437 chr16:81038419-81038428
24	CTCF	chr16:81038268-81038580	SK-N-SH_RA	brain:	n/a	chr16:81038422-81038432 chr16:81038417-81038435 chr16:81038419-81038440 chr16:81038420-81038433 chr16:81038420-81038429 chr16:81038418-81038434
25	MXI1	chr16:81037831-81038683	GM12878	blood:	n/a	n/a
26	CTCF	chr16:81038198-81038712	GM12878	blood:	n/a	chr16:81038422-81038432 chr16:81038417-81038435 chr16:81038419-81038440 chr16:81038420-81038433 chr16:81038420-81038429 chr16:81038418-81038434
27	IRF1	chr16:81037079-81038659	K562	blood:	n/a	chr16:81037864-81037878 chr16:81037862-81037876 chr16:81037866-81037879 chr16:81037867-81037884 chr16:81037866-81037879 chr16:81037861-81037875 chr16:81037868-81037879 chr16:81037862-81037883 chr16:81037863-81037874 chr16:81037861-81037874 chr16:81037866-81037879 chr16:81038574-81038590 chr16:81037860-81037880 chr16:81037865-81037879 chr16:81037868-81037878 chr16:81037868-81037882
28	RAD21	chr16:81038203-81038672	HepG2	liver:	n/a	chr16:81038418-81038437 chr16:81038419-81038428
29	ARID3A	chr16:81038186-81038592	HepG2	liver:	n/a	n/a
30	CTCF	chr16:81038181-81038698	MCF-7	breast:	n/a	chr16:81038422-81038432 chr16:81038417-81038435 chr16:81038419-81038440 chr16:81038420-81038433 chr16:81038420-81038429 chr16:81038418-81038434
31	ARID3A	chr16:81038172-81038612	K562	blood:	n/a	n/a
32	CTCF	chr16:81038267-81038574	A549	lung:	n/a	chr16:81038422-81038432 chr16:81038417-81038435 chr16:81038419-81038440 chr16:81038420-81038433 chr16:81038420-81038429 chr16:81038418-81038434
33	SMC3	chr16:81038222-81038604	Hela-S3	cervix:	n/a	chr16:81038419-81038427 chr16:81038423-81038433 chr16:81038419-81038433
34	BCLAF1	chr16:81038177-81038609	GM12878	blood:	n/a	n/a
35	CTCF	chr16:81038260-81038410	HFF-Myc	foreskin:	n/a	n/a
36	CTCF	chr16:81038149-81038680	K562	blood:	n/a	chr16:81038422-81038432 chr16:81038417-81038435 chr16:81038419-81038440 chr16:81038420-81038433 chr16:81038420-81038429 chr16:81038418-81038434
37	RAD21	chr16:81038256-81038528	A549	lung:	n/a	chr16:81038418-81038437 chr16:81038419-81038428
38	CTCF	chr16:81038171-81038656	A549	lung:	n/a	chr16:81038422-81038432 chr16:81038417-81038435 chr16:81038419-81038440 chr16:81038420-81038433 chr16:81038420-81038429 chr16:81038418-81038434
39	TBL1XR1	chr16:81038151-81038836	K562	blood:	n/a	n/a
40	TBP	chr16:81038193-81038692	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr16:81038243-81038575	A549	lung:	n/a	chr16:81038422-81038432 chr16:81038417-81038435 chr16:81038419-81038440 chr16:81038420-81038433 chr16:81038420-81038429 chr16:81038418-81038434
42	CTCF	chr16:81038276-81038588	HUVEC	blood vessel:	n/a	chr16:81038422-81038432 chr16:81038417-81038435 chr16:81038419-81038440 chr16:81038420-81038433 chr16:81038420-81038429 chr16:81038418-81038434
43	IRF1	chr16:81037703-81038580	K562	blood:	n/a	chr16:81037864-81037878 chr16:81037862-81037876 chr16:81037866-81037879 chr16:81037867-81037884 chr16:81037866-81037879 chr16:81037861-81037875 chr16:81037868-81037879 chr16:81037862-81037883 chr16:81037863-81037874 chr16:81037861-81037874 chr16:81037866-81037879 chr16:81037860-81037880 chr16:81037865-81037879 chr16:81037868-81037878 chr16:81037868-81037882
44	BRCA1	chr16:81038251-81038654	Hela-S3	cervix:	n/a	n/a
45	FOS	chr16:81038273-81038467	MCF10A-Er-Src	breast:	n/a	n/a
46	CCNT2	chr16:81038107-81038534	K562	blood:	n/a	n/a
47	ZNF143	chr16:81038228-81038602	GM12878	blood:	n/a	n/a
48	CTCF	chr16:81038274-81038620	MCF-7	breast:	n/a	chr16:81038422-81038432 chr16:81038417-81038435 chr16:81038419-81038440 chr16:81038420-81038433 chr16:81038420-81038429 chr16:81038418-81038434
49	RUNX3	chr16:81038221-81038610	GM12878	blood:	n/a	n/a
50	RAD21	chr16:81038251-81038680	HepG2	liver:	n/a	chr16:81038418-81038437 chr16:81038419-81038428

No.	Distal block	Cell Line	Cell type
1	chr16:81037980..81039028-chr16:81068868..81069708,4	MCF-7	breast:
2	chr16:81025473..81027772-chr16:81037035..81041311,4	K562	blood:
3	chr16:81038258..81040784-chr16:81347032..81349945,2	K562	blood:
4	chr16:81038105..81044923-chr16:81066300..81070952,14	MCF-7	breast:
5	chr16:81037151..81044642-chr16:81065528..81070966,16	K562	blood:
6	chr16:81028135..81034571-chr16:81035246..81044200,13	K562	blood:
7	chr16:81022564..81024564-chr16:81037053..81038818,2	K562	blood:
8	chr16:81037996..81043724-chr16:81066407..81071400,11	MCF-7	breast:
9	chr16:81037094..81043910-chr16:81050858..81058489,11	MCF-7	breast:
10	chr16:81037997..81038816-chr16:81068689..81069738,5	MCF-7	breast:
11	chr16:81000562..81002901-chr16:81037638..81039411,2	K562	blood:
12	chr16:81037151..81042784-chr16:81066438..81073797,14	K562	blood:
13	chr16:81036155..81041262-chr16:81074086..81079875,7	K562	blood:

Variant related genes	Relation type
CENPN	TF binding region
ENSG00000261609	Chromatin interaction
ENSG00000166451	Chromatin interaction
ENSG00000260213	Chromatin interaction
ENSG00000103121	Chromatin interaction
ENSG00000166454	Chromatin interaction

Extended variants
information (count: 138 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:129)

rs_ID	r²[population]
rs11150333	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11150334	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1127390	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11866375	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11866803	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12446304	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12446810	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12448656	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13331118	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13332890	0.85[AMR][1000 genomes]
rs13332902	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13334887	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13336292	0.86[AMR][1000 genomes]
rs13336629	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1453327	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1453328	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1469123	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1469124	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1469125	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1469126	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1477381	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16944339	0.88[ASN][1000 genomes]
rs16944345	0.87[ASN][1000 genomes]
rs1964298	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2018122	0.81[ASN][1000 genomes]
rs2098726	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2113196	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2113197	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2123627	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2167889	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2194321	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2194322	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2216753	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2244452	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2316923	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2549828	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2549833	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2549835	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2549836	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2549837	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2549838	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2549839	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2549840	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2549841	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2549842	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2549843	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2549844	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2549846	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2549847	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2549848	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2549852	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2549853	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2549854	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2549855	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2549856	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2549857	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2549858	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2549859	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2549861	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2549863	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2549865	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2549866	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2549867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2549868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2549869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2549870	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2549872	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2549879	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2549883	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2549886	0.82[ASN][1000 genomes]
rs2602409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602410	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602411	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2602412	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602413	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602414	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602416	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602418	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602423	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2602424	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2602433	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2602434	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2602435	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602436	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602437	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602440	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602443	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602446	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2602447	0.80[ASN][1000 genomes]
rs2602448	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2602449	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2602453	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2911148	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2911149	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2911150	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2911151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970079	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2970081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970083	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2970084	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2970085	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2970086	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3112035	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3112036	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3784814	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3826048	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55776427	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56306230	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60779117	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6564814	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs66516157	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71400133	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7196960	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs874053	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs874054	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9888895	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9889194	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9921448	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9921914	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9923948	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9931292	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9932857	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9934957	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9936366	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9937731	0.89[AMR][1000 genomes]
rs9938541	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948534	chr16:80867635-81160492	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1065258	chr16:80887483-81081768	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv1058045	chr16:80918138-81048242	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv1064164	chr16:80918138-81126967	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv542991	chr16:80918138-81126967	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
7	nsv532597	chr16:81009718-81388348	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
8	nsv573338	chr16:81020393-81106944	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers 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 miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv427984	chr16:81026691-81320341	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription 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	49 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2549871	CENPN	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81009200-81038800	Weak transcription	Spleen	Spleen
2	chr16:81014000-81039200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:81022000-81039200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr16:81022200-81038400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr16:81024400-81038800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr16:81027200-81039200	Weak transcription	Aorta	Aorta
7	chr16:81035600-81039400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr16:81036000-81039400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr16:81036600-81039200	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr16:81036600-81039400	Enhancers	Fetal Heart	heart
11	chr16:81036600-81039400	Enhancers	Fetal Lung	lung
12	chr16:81036600-81039400	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr16:81037000-81038600	Enhancers	Brain Substantia Nigra	brain
14	chr16:81037000-81039000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr16:81037200-81039000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr16:81037200-81039600	Flanking Active TSS	Dnd41	blood
17	chr16:81037600-81038400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
18	chr16:81037600-81038400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr16:81037600-81038400	Flanking Active TSS	Osteobl	bone
20	chr16:81037600-81038600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
21	chr16:81037600-81038600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr16:81037600-81038600	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr16:81037600-81038800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
24	chr16:81037600-81038800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr16:81037600-81038800	Flanking Active TSS	Liver	Liver
26	chr16:81037600-81038800	Enhancers	Placenta	Placenta
27	chr16:81037600-81038800	Enhancers	Psoas Muscle	Psoas
28	chr16:81037600-81039000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr16:81037600-81039200	Enhancers	Fetal Muscle Trunk	muscle
30	chr16:81037600-81039200	Enhancers	Fetal Muscle Leg	muscle
31	chr16:81037600-81039200	Enhancers	Fetal Thymus	thymus
32	chr16:81037600-81039200	Enhancers	Lung	lung
33	chr16:81037600-81039200	Active TSS	GM12878-XiMat	blood
34	chr16:81037600-81039200	Active TSS	NHLF	lung
35	chr16:81037600-81039600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr16:81037600-81039600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr16:81037600-81039600	Flanking Active TSS	Stomach Smooth Muscle	stomach
38	chr16:81037600-81039800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr16:81037600-81039800	Enhancers	Small Intestine	intestine
40	chr16:81037600-81040000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr16:81037800-81038400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
42	chr16:81037800-81038400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr16:81037800-81038400	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr16:81037800-81038400	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr16:81037800-81038400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr16:81037800-81038400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr16:81037800-81038400	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr16:81037800-81038400	Active TSS	Colonic Mucosa	Colon
49	chr16:81037800-81038400	Flanking Active TSS	Fetal Intestine Small	intestine
50	chr16:81037800-81038400	Active TSS	Stomach Mucosa	stomach

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