Variant report

Variant	rs2549855
Chromosome Location	chr16:81026852-81026853
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:49)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:49 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr16:81026717-81027449	HepG2	liver:	n/a	n/a
2	JUND	chr16:81026820-81027414	SK-N-SH	brain:	n/a	n/a
3	FOS	chr16:81026845-81027303	MCF10A-Er-Src	breast:	n/a	n/a
4	GATA2	chr16:81026596-81027436	HUVEC	blood vessel:	n/a	chr16:81027038-81027052
5	RFX5	chr16:81026672-81027417	Hela-S3	cervix:	n/a	n/a
6	UBTF	chr16:81026843-81027206	K562	blood:	n/a	n/a
7	GATA3	chr16:81026663-81027472	A549	lung:	n/a	n/a
8	POLR2A	chr16:81026764-81027421	HUVEC	blood vessel:	n/a	n/a
9	CUX1	chr16:81026799-81027294	K562	blood:	n/a	n/a
10	GATA3	chr16:81026797-81027470	T-47D	breast:	n/a	n/a
11	GATA3	chr16:81026661-81027716	SK-N-SH	brain:	n/a	n/a
12	TCF12	chr16:81026773-81027438	SK-N-SH	brain:	n/a	n/a
13	SMC3	chr16:81026831-81027322	Hela-S3	cervix:	n/a	n/a
14	GATA2	chr16:81026833-81027298	K562	blood:	n/a	chr16:81027038-81027052
15	SP1	chr16:81026795-81027359	A549	lung:	n/a	n/a
16	GATA3	chr16:81026791-81027300	T-47D	breast:	n/a	n/a
17	GATA3	chr16:81026699-81027656	SK-N-SH	brain:	n/a	n/a
18	SP1	chr16:81026761-81027335	A549	lung:	n/a	n/a
19	BRCA1	chr16:81026384-81027436	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr16:81026738-81027313	MCF10A-Er-Src	breast:	n/a	n/a
21	NFIC	chr16:81026789-81027468	SK-N-SH	brain:	n/a	n/a
22	TCF12	chr16:81026797-81027842	SK-N-SH	brain:	n/a	n/a
23	FOXA1	chr16:81026560-81027271	HepG2	liver:	n/a	n/a
24	POLR2A	chr16:81026803-81027332	Hela-S3	cervix:	n/a	n/a
25	TEAD4	chr16:81026787-81027286	K562	blood:	n/a	n/a
26	EP300	chr16:81026841-81027306	K562	blood:	n/a	n/a
27	FOXA2	chr16:81025091-81027098	HepG2	liver:	n/a	n/a
28	MAFK	chr16:81026741-81027235	IMR90	lung:	n/a	n/a
29	JUND	chr16:81026544-81027832	Hela-S3	cervix:	n/a	n/a
30	CBX3	chr16:81026802-81027336	K562	blood:	n/a	n/a
31	USF2	chr16:81026835-81027244	Hela-S3	cervix:	n/a	n/a
32	FOSL2	chr16:81026800-81027396	A549	lung:	n/a	n/a
33	POLR2A	chr16:81026818-81027211	K562	blood:	n/a	n/a
34	TEAD4	chr16:81026727-81027338	K562	blood:	n/a	n/a
35	TEAD4	chr16:81026722-81027285	SK-N-SH	brain:	n/a	n/a
36	POLR2A	chr16:81026832-81027373	IMR90	lung:	n/a	n/a
37	GATA1	chr16:81026755-81027307	PBDE	blood:	n/a	n/a
38	MAX	chr16:81026831-81027287	SK-N-SH	brain:	n/a	n/a
39	FOS	chr16:81026723-81027273	MCF10A-Er-Src	breast:	n/a	n/a
40	FOSL2	chr16:81026780-81027416	SK-N-SH	brain:	n/a	n/a
41	ARID3A	chr16:81026852-81027349	K562	blood:	n/a	n/a
42	TBL1XR1	chr16:81026796-81027397	K562	blood:	n/a	n/a
43	TBP	chr16:81026547-81027520	Hela-S3	cervix:	n/a	n/a
44	GTF2F1	chr16:81026852-81027272	Hela-S3	cervix:	n/a	n/a
45	CEBPD	chr16:81026792-81027282	K562	blood:	n/a	n/a
46	IRF1	chr16:81026634-81027256	K562	blood:	n/a	n/a
47	CEBPB	chr16:81026569-81027334	Hela-S3	cervix:	n/a	n/a
48	EP300	chr16:81026705-81027435	Hela-S3	cervix:	n/a	n/a
49	FOS	chr16:81026843-81027312	HUVEC	blood vessel:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:81026654..81030284-chr16:81073967..81077178,3	K562	blood:
2	chr16:81025909..81029223-chr16:81033494..81036388,3	K562	blood:
3	chr16:81025473..81027772-chr16:81037035..81041311,4	K562	blood:
4	chr16:81016839..81018577-chr16:81026525..81028727,2	MCF-7	breast:
5	chr16:81025833..81027865-chr16:81069028..81070871,2	K562	blood:

No data

Variant related genes	Relation type
CMC2	TF binding region
ENSG00000260213	Chromatin interaction
ENSG00000166454	Chromatin interaction
ENSG00000166451	Chromatin interaction
ENSG00000103121	Chromatin interaction

Extended variants
information (count: 160 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:144)

rs_ID	r²[population]
rs11150333	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11150334	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1127390	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11866375	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11866803	0.94[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];0.96[MEX][hapmap];0.92[TSI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12446304	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12446810	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12448656	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13331118	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13332890	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13332902	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13334887	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13336292	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13336629	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1453327	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1453328	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1469123	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.96[MKK][hapmap];0.96[TSI][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1469124	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1469125	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1469126	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1477381	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1549288	0.95[CHB][hapmap];0.82[CHD][hapmap];0.92[MEX][hapmap]
rs16944339	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs16944345	0.95[CHB][hapmap];0.82[JPT][hapmap];0.88[ASN][1000 genomes]
rs16954399	0.80[GIH][hapmap]
rs1964298	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2018122	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2098726	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2113196	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2113197	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2123627	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2167889	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2194321	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2194322	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2216753	1.00[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.97[LWK][hapmap];0.96[MEX][hapmap];0.92[MKK][hapmap];0.89[TSI][hapmap];0.86[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2244452	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2287991	0.94[CEU][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2316923	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2549822	0.83[TSI][hapmap]
rs2549828	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2549833	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2549834	0.83[TSI][hapmap]
rs2549835	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2549836	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2549837	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2549838	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2549839	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2549840	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2549841	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2549842	0.94[ASW][hapmap];1.00[CEU][hapmap];0.84[LWK][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2549843	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2549844	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2549846	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2549847	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2549848	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2549852	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2549853	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2549854	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2549856	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2549857	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2549858	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2549859	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2549860	0.83[TSI][hapmap]
rs2549861	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2549863	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2549865	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2549866	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2549867	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2549868	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2549869	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2549870	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2549871	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2549872	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2549879	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2549883	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2549886	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2549887	0.88[CEU][hapmap];0.95[CHB][hapmap];0.84[CHD][hapmap];0.90[GIH][hapmap];0.96[MEX][hapmap];0.96[TSI][hapmap];0.92[EUR][1000 genomes]
rs2549888	0.92[EUR][1000 genomes]
rs2602409	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2602410	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2602411	1.00[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.90[LWK][hapmap];0.96[MEX][hapmap];0.93[MKK][hapmap];0.89[TSI][hapmap];0.89[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2602412	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2602413	1.00[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.90[LWK][hapmap];0.96[MEX][hapmap];0.93[MKK][hapmap];0.89[TSI][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2602414	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2602416	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2602417	1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2602418	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2602419	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2602423	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2602424	0.94[CEU][hapmap];0.95[CHB][hapmap];0.84[CHD][hapmap];0.96[GIH][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2602426	0.92[EUR][1000 genomes]
rs2602433	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602434	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2602435	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2602436	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2602437	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2602440	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2602441	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2602443	1.00[ASW][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.90[LWK][hapmap];0.96[MEX][hapmap];0.93[MKK][hapmap];0.89[TSI][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2602446	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2602447	0.86[CHB][hapmap]
rs2602448	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2602449	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2602453	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2911148	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2911149	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2911150	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2911151	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2911152	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap]
rs2970079	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2970081	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2970083	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970084	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970085	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970086	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3112035	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3112036	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35604113	0.84[AFR][1000 genomes]
rs3784814	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3826048	0.94[CEU][hapmap];0.95[CHB][hapmap];0.84[CHD][hapmap];0.93[GIH][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55776427	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56306230	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60779117	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6564814	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66516157	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71400133	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7196960	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7197370	0.94[CEU][hapmap];0.95[CHB][hapmap]
rs8049565	0.80[GIH][hapmap]
rs874053	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs874054	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9888895	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9889194	0.94[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9921448	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9921914	0.94[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9923948	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9925780	0.94[CEU][hapmap];0.93[GIH][hapmap];0.96[MEX][hapmap];0.88[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9931292	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9932857	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9934957	0.94[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.93[GIH][hapmap];0.96[MEX][hapmap];0.92[TSI][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9936366	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9937731	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9938541	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9939934	0.83[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 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	esv2756816	chr16:80972279-81027142	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	esv2758663	chr16:80972279-81027142	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	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
9	nsv817744	chr16:80989859-81027685	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	esv11135	chr16:80997245-81028812	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv573337	chr16:80997892-81027685	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1061745	chr16:80998523-81029147	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	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
14	esv2753780	chr16:81010299-81028799	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	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
16	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:7)

SNP	Gene	Cis/trans	Tissue	Source
rs2549855	C16orf61	cis	lymphoblastoid	seeQTL
rs2549855	C16orf61	cis	multi-tissue	Pritchard
rs2549855	C16orf61	cis	cerebellum	SCAN
rs2549855	CENPN	cis	lymphoblastoid	seeQTL
rs2549855	DC13	cis	multi-tissue	Pritchard
rs2549855	HSD17B2	cis	cerebellum	SCAN
rs2549855	BM039	cis	multi-tissue	Pritchard

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80998400-81030800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr16:81001400-81038000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr16:81005200-81030600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr16:81006600-81029800	Weak transcription	Fetal Kidney	kidney
5	chr16:81007200-81030800	Weak transcription	Psoas Muscle	Psoas
6	chr16:81007600-81027000	Weak transcription	Fetal Brain Female	brain
7	chr16:81009200-81038800	Weak transcription	Spleen	Spleen
8	chr16:81010000-81030800	Weak transcription	Ovary	ovary
9	chr16:81014000-81030600	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr16:81014000-81039200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr16:81014400-81030400	Weak transcription	Colon Smooth Muscle	Colon
12	chr16:81014400-81030800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr16:81014400-81037600	Weak transcription	Left Ventricle	heart
14	chr16:81014600-81027000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr16:81014600-81027000	Weak transcription	Brain Germinal Matrix	brain
16	chr16:81014600-81027000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr16:81014600-81027200	Weak transcription	Fetal Intestine Small	intestine
18	chr16:81014600-81034000	Weak transcription	Fetal Stomach	stomach
19	chr16:81014600-81037600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr16:81014600-81037600	Weak transcription	Lung	lung
21	chr16:81015200-81030400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr16:81015200-81030400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr16:81015600-81030000	Weak transcription	Primary hematopoietic stem cells	blood
24	chr16:81020800-81029200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr16:81020800-81030800	Weak transcription	Right Ventricle	heart
26	chr16:81021400-81027200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr16:81021400-81027400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr16:81021400-81030800	Weak transcription	Right Atrium	heart
29	chr16:81022000-81027400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr16:81022000-81030400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr16:81022000-81038000	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr16:81022000-81038200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr16:81022000-81039200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr16:81022200-81038400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr16:81022600-81027600	Weak transcription	Primary T cells from cord blood	blood
36	chr16:81022600-81038000	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr16:81022600-81038200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr16:81022800-81027200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr16:81024200-81027400	Enhancers	Stomach Mucosa	stomach
40	chr16:81024400-81038800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr16:81025000-81027200	Strong transcription	GM12878-XiMat	blood
42	chr16:81025200-81028400	Enhancers	Placenta Amnion	Placenta Amnion
43	chr16:81025200-81037600	Weak transcription	Gastric	stomach
44	chr16:81025200-81038000	Weak transcription	Pancreas	Pancrea
45	chr16:81025400-81027000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr16:81025400-81027000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr16:81025400-81027000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr16:81025400-81027000	Enhancers	Fetal Heart	heart
49	chr16:81025400-81028400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr16:81025400-81028400	Weak transcription	Fetal Intestine Large	intestine

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