Variant report

Variant	rs4888379
Chromosome Location	chr16:75340231-75340232
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:75338307-75340674	HUVEC	blood vessel:	n/a	n/a
2	RXRA	chr16:75340104-75340668	HepG2	liver:	n/a	n/a
3	NR3C1	chr16:75340075-75340722	A549	lung:	n/a	n/a
4	FOSL2	chr16:75340164-75340604	A549	lung:	n/a	n/a
5	KAP1	chr16:75339115-75340447	HEK293	kidney:	n/a	n/a
6	TEAD4	chr16:75338855-75340700	HepG2	liver:	n/a	n/a
7	MAX	chr16:75339228-75340495	HepG2	liver:	n/a	n/a
8	CEBPB	chr16:75340140-75340486	HepG2	liver:	n/a	n/a
9	FOS	chr16:75338990-75340541	HUVEC	blood vessel:	n/a	chr16:75339584-75339595 chr16:75339585-75339595 chr16:75339582-75339593 chr16:75339585-75339595 chr16:75339586-75339594 chr16:75339585-75339595
10	POLR2A	chr16:75338168-75340507	MCF10A-Er-Src	breast:	n/a	n/a
11	CHD2	chr16:75340107-75340409	HepG2	liver:	n/a	n/a
12	JUND	chr16:75338686-75340747	HCT-116	colon:	n/a	chr16:75339585-75339595 chr16:75339582-75339593 chr16:75339584-75339595 chr16:75339585-75339595 chr16:75339586-75339594 chr16:75339585-75339595
13	GATA2	chr16:75338492-75340731	HUVEC	blood vessel:	n/a	chr16:75338583-75338595 chr16:75338586-75338593 chr16:75338586-75338596 chr16:75338584-75338593
14	FOXA1	chr16:75339914-75340793	HepG2	liver:	n/a	n/a
15	EP300	chr16:75339007-75340749	HepG2	liver:	n/a	chr16:75339306-75339315 chr16:75339087-75339101
16	RCOR1	chr16:75339149-75340687	Hela-S3	cervix:	n/a	n/a
17	NFIC	chr16:75338881-75340709	HepG2	liver:	n/a	n/a
18	SP1	chr16:75339052-75340718	A549	lung:	n/a	n/a
19	RCOR1	chr16:75338965-75340624	HepG2	liver:	n/a	n/a
20	MAFK	chr16:75340153-75340606	K562	blood:	n/a	n/a
21	POLR2A	chr16:75339771-75340485	HepG2	liver:	n/a	n/a
22	CREB1	chr16:75340110-75340459	A549	lung:	n/a	n/a
23	SP1	chr16:75338303-75341123	HCT-116	colon:	n/a	chr16:75338460-75338469 chr16:75338514-75338535 chr16:75338711-75338725
24	POLR2A	chr16:75338368-75340688	HUVEC	blood vessel:	n/a	n/a
25	FOS	chr16:75339076-75340453	MCF10A-Er-Src	breast:	n/a	chr16:75339584-75339595 chr16:75339585-75339595 chr16:75339582-75339593 chr16:75339585-75339595 chr16:75339586-75339594 chr16:75339585-75339595
26	TBP	chr16:75338531-75340609	HepG2	liver:	n/a	n/a
27	NR3C1	chr16:75340000-75340668	A549	lung:	n/a	n/a
28	HNF4A	chr16:75340107-75340656	HepG2	liver:	n/a	n/a
29	MAZ	chr16:75340054-75340562	HepG2	liver:	n/a	n/a
30	POLR2A	chr16:75338478-75340920	HepG2	liver:	n/a	n/a
31	EP300	chr16:75338707-75340642	HepG2	liver:	n/a	chr16:75339306-75339315 chr16:75339087-75339101
32	POLR2A	chr16:75340024-75340447	HepG2	liver:	n/a	n/a
33	POLR2A	chr16:75340190-75340357	A549	lung:	n/a	n/a
34	MAX	chr16:75339055-75340800	HepG2	liver:	n/a	chr16:75339144-75339153
35	HDAC2	chr16:75340044-75340788	HepG2	liver:	n/a	n/a
36	POLR2A	chr16:75339999-75340869	HepG2	liver:	n/a	n/a
37	MYBL2	chr16:75338924-75340820	HepG2	liver:	n/a	n/a
38	FOXA2	chr16:75340051-75340716	HepG2	liver:	n/a	n/a
39	SP1	chr16:75339999-75340760	HepG2	liver:	n/a	n/a
40	JUN	chr16:75339068-75340944	HepG2	liver:	n/a	chr16:75340845-75340852 chr16:75339585-75339595 chr16:75339582-75339593 chr16:75339585-75339595 chr16:75339586-75339594 chr16:75339585-75339595
41	STAT3	chr16:75339073-75340516	MCF10A-Er-Src	breast:	n/a	chr16:75339314-75339322
42	POLR2A	chr16:75339111-75340520	HepG2	liver:	n/a	n/a
43	EP300	chr16:75339846-75340703	HepG2	liver:	n/a	n/a
44	MXI1	chr16:75339142-75340608	HepG2	liver:	n/a	n/a
45	JUND	chr16:75339240-75340652	HepG2	liver:	n/a	chr16:75339585-75339595 chr16:75339582-75339593 chr16:75339584-75339595 chr16:75339585-75339595 chr16:75339586-75339594 chr16:75339585-75339595
46	USF2	chr16:75339212-75340295	HepG2	liver:	n/a	chr16:75339402-75339413
47	MYC	chr16:75339099-75340258	MCF10A-Er-Src	breast:	n/a	chr16:75339144-75339153
48	NR3C1	chr16:75340065-75340654	A549	lung:	n/a	n/a
49	MXI1	chr16:75338318-75340562	IMR90	lung:	n/a	n/a
50	SP1	chr16:75339002-75340731	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:75298469..75301995-chr16:75337781..75340827,6	MCF-7	breast:
2	chr16:75282402..75286042-chr16:75337577..75341093,9	MCF-7	breast:
3	chr16:75288586..75292639-chr16:75337750..75340619,6	MCF-7	breast:
4	chr16:75282912..75287259-chr16:75337955..75341068,4	MCF-7	breast:
5	chr16:75282975..75286210-chr16:75340217..75342691,3	K562	blood:
6	chr16:75298649..75302173-chr16:75337597..75342572,10	MCF-7	breast:

Variant related genes	Relation type
CFDP1	TF binding region
ENSG00000050820	Chromatin interaction

Extended variants
information (count: 273 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:267)

rs_ID	r²[population]
rs100912	0.86[JPT][hapmap]
rs1011121	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1017239	0.83[JPT][hapmap]
rs10431974	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10459859	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10514393	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10514396	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10781976	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10781977	0.83[JPT][hapmap]
rs10871307	0.81[ASN][1000 genomes]
rs10871308	0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs10871309	0.92[ASN][1000 genomes]
rs10871311	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10871313	0.86[CHB][hapmap];0.89[JPT][hapmap]
rs1109341	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1109342	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11149812	0.83[CHB][hapmap]
rs11149813	0.81[CHB][hapmap]
rs11149815	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11149818	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11149820	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11149822	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11149824	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11149825	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11149828	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11149829	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11149830	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11149831	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11149832	0.96[CEU][hapmap];0.87[CHB][hapmap];0.87[JPT][hapmap];0.80[EUR][1000 genomes]
rs11640018	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs11640218	0.88[ASN][1000 genomes]
rs11640674	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11641308	0.90[ASN][1000 genomes]
rs11641311	0.91[ASN][1000 genomes]
rs11641532	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11641801	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11642572	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11642921	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11643410	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11644306	0.81[EUR][1000 genomes]
rs11644592	0.90[ASN][1000 genomes]
rs11644639	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11645329	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11645691	0.83[CHB][hapmap]
rs11646044	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11646677	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11646852	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11648176	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11649638	0.81[EUR][1000 genomes]
rs11858992	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11860231	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11860284	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11861810	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11862095	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11862582	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11862684	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11862719	0.82[ASN][1000 genomes]
rs11864102	0.90[ASN][1000 genomes]
rs11864587	0.87[ASN][1000 genomes]
rs11865004	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12051111	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12051136	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12051326	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12149063	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12443834	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12443904	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12444589	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12445813	0.83[JPT][hapmap]
rs12599361	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12917651	0.96[CEU][hapmap];0.87[CHB][hapmap];0.87[JPT][hapmap]
rs12922951	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12924782	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12924920	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12928036	0.85[JPT][hapmap];0.83[EUR][1000 genomes]
rs12928898	0.80[ASN][1000 genomes]
rs12933281	0.92[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]
rs12935787	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1364077	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1364078	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1364079	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1424013	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs1542864	0.82[EUR][1000 genomes]
rs1544810	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1549306	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1559339	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs166013	0.95[CHB][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs17685540	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17696696	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17696749	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1808434	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1808435	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1808436	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1862705	0.83[JPT][hapmap];0.80[ASN][1000 genomes]
rs1862706	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1895490	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2059256	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2059257	0.83[CHB][hapmap]
rs2113232	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2161648	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2161684	0.92[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]
rs2285222	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2285223	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2285224	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2285225	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs247427	0.83[CHB][hapmap]
rs247438	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs28558946	0.81[EUR][1000 genomes]
rs2865528	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2865530	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2865531	0.93[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28655617	0.81[EUR][1000 genomes]
rs2903033	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34021527	0.81[ASN][1000 genomes]
rs34029337	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34222958	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34296964	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34624768	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34673655	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35261357	0.86[ASN][1000 genomes]
rs35263058	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35409574	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35415181	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35552529	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35737321	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35937717	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35952313	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3743607	0.91[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs3743609	0.82[EUR][1000 genomes]
rs3784935	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3784936	0.83[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs3784937	0.82[ASN][1000 genomes]
rs3851733	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3851734	1.00[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3851735	0.83[JPT][hapmap]
rs3851737	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3851738	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3851740	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3863442	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3863445	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3863446	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3863447	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4146809	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4146810	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4243111	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4243112	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4536500	0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs4558442	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4594277	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4638613	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs468079	0.83[JPT][hapmap]
rs4887815	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4887816	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4887818	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4887820	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4887821	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4887822	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4887823	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4887824	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4887828	0.81[JPT][hapmap]
rs4887829	0.92[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.81[EUR][1000 genomes]
rs4888372	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4888376	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4888377	1.00[CHB][hapmap];0.89[JPT][hapmap]
rs4888378	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4888380	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4888383	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4888385	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4888386	0.93[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4888387	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4888388	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4888389	0.93[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4888390	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4888391	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4888392	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4888393	0.86[CHB][hapmap]
rs4888396	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs4888400	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4888403	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4888404	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4888405	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4888406	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4888407	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4888408	0.88[ASN][1000 genomes]
rs4888409	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4888410	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4888411	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4888412	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4888413	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4888414	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4888415	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4888416	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4888418	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4888425	0.89[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]
rs4888426	0.80[EUR][1000 genomes]
rs4888427	0.82[EUR][1000 genomes]
rs4888430	0.85[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.90[YRI][hapmap]
rs4888432	0.81[JPT][hapmap]
rs4993969	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4993970	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4993971	0.83[CHB][hapmap]
rs56004344	0.81[ASN][1000 genomes]
rs56343285	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57113150	0.81[EUR][1000 genomes]
rs59465235	0.82[EUR][1000 genomes]
rs59686216	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60730309	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62059808	0.91[ASN][1000 genomes]
rs62059845	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62059846	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62062564	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62062565	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62062567	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62062568	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62062572	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6564252	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6564258	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6564259	0.86[ASN][1000 genomes]
rs6564261	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs67409275	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71394207	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7184525	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7185640	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7188231	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7188604	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7189407	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs7191890	0.83[EUR][1000 genomes]
rs7194129	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7199062	0.83[EUR][1000 genomes]
rs7199132	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7200616	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7202284	0.84[JPT][hapmap]
rs7202567	0.83[EUR][1000 genomes]
rs7203157	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7204984	0.89[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]
rs7206541	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7206665	0.83[EUR][1000 genomes]
rs72787160	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7499872	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs766521	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs766522	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs8046000	0.90[ASN][1000 genomes]
rs8046109	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8048527	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8048677	0.83[CHB][hapmap];0.84[JPT][hapmap]
rs8048816	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs8050059	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8050662	0.83[JPT][hapmap]
rs8050769	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8051407	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8053632	0.83[JPT][hapmap]
rs8054586	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs8054769	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8055490	0.82[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap]
rs8055609	0.83[CHB][hapmap]
rs8055974	0.89[CEU][hapmap];0.92[CHB][hapmap];0.87[JPT][hapmap]
rs8056080	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8056236	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8057084	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs8057203	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8057535	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8057849	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8060955	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8182132	0.90[ASN][1000 genomes]
rs889446	0.91[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs977987	0.86[CHB][hapmap];0.91[JPT][hapmap];0.90[YRI][hapmap]
rs9922008	1.00[CHB][hapmap];0.90[JPT][hapmap];0.99[ASN][1000 genomes]
rs9934007	0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
3	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
4	nsv523405	chr16:75227969-75342846	Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
6	nsv833283	chr16:75302175-75392308	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs4888379	RP11-252K23.2	cis	Artery Tibial	GTEx
rs4888379	RP11-252K23.2	cis	Esophagus Mucosa	GTEx
rs4888379	RP11-252K23.2	cis	lung	GTEx
rs4888379	CFDP1	Cis_1M	lymphoblastoid	RTeQTL
rs4888379	RP11-252K23.2	cis	Thyroid	GTEx

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75317400-75358000	Weak transcription	Fetal Brain Male	brain
2	chr16:75325200-75340800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
3	chr16:75329000-75340400	Strong transcription	Thymus	Thymus
4	chr16:75332600-75352000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr16:75335000-75346400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr16:75336000-75346600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:75336600-75343000	Weak transcription	Gastric	stomach
8	chr16:75336800-75346600	Weak transcription	Ovary	ovary
9	chr16:75338000-75341000	Enhancers	NHLF	lung
10	chr16:75338000-75342200	Enhancers	Brain Hippocampus Middle	brain
11	chr16:75338200-75340400	Enhancers	Adipose Nuclei	Adipose
12	chr16:75338200-75340800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr16:75338200-75341000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr16:75338200-75341000	Enhancers	Brain Substantia Nigra	brain
15	chr16:75338200-75341000	Enhancers	Right Atrium	heart
16	chr16:75338200-75341000	Enhancers	NH-A	brain
17	chr16:75338200-75341200	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr16:75338400-75340400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr16:75338400-75340400	Enhancers	Esophagus	oesophagus
20	chr16:75338400-75340800	Enhancers	Pancreatic Islets	Pancreatic Islet
21	chr16:75338400-75342200	Enhancers	Brain Angular Gyrus	brain
22	chr16:75338600-75340600	Enhancers	Colon Smooth Muscle	Colon
23	chr16:75338600-75340800	Enhancers	Left Ventricle	heart
24	chr16:75338800-75340400	Enhancers	Fetal Stomach	stomach
25	chr16:75338800-75340400	Enhancers	Fetal Thymus	thymus
26	chr16:75338800-75340400	Flanking Active TSS	Osteobl	bone
27	chr16:75338800-75340800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr16:75338800-75341000	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr16:75338800-75341000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr16:75338800-75341000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr16:75338800-75341000	Enhancers	Brain Cingulate Gyrus	brain
32	chr16:75338800-75341000	Flanking Active TSS	HepG2	liver
33	chr16:75338800-75343000	Weak transcription	Fetal Muscle Trunk	muscle
34	chr16:75338800-75346600	Weak transcription	Fetal Brain Female	brain
35	chr16:75338800-75349400	Weak transcription	Primary neutrophils fromperipheralblood	blood
36	chr16:75338800-75349800	Weak transcription	Primary B cells from peripheral blood	blood
37	chr16:75338800-75351200	Weak transcription	Right Ventricle	heart
38	chr16:75338800-75426400	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr16:75339000-75340600	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr16:75339000-75340600	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr16:75339000-75340600	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr16:75339000-75340800	Enhancers	Primary T cells from cord blood	blood
43	chr16:75339000-75340800	Enhancers	Fetal Lung	lung
44	chr16:75339000-75340800	Weak transcription	Spleen	Spleen
45	chr16:75339000-75341000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr16:75339000-75341000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr16:75339000-75341000	Enhancers	HSMM	muscle
48	chr16:75339000-75341400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr16:75339000-75342200	Enhancers	Placenta	Placenta
50	chr16:75339000-75346800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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