Variant report

Variant	rs57222975
Chromosome Location	chr11:77530871-77530872
allele	A/C
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	GABPA	chr11:77530295-77531019	MCF-7	breast:	n/a	n/a
2	RELA	chr11:77530351-77532841	GM12891	blood:	n/a	n/a
3	MAX	chr11:77530362-77532614	Hela-S3	cervix:	n/a	chr11:77532137-77532147 chr11:77531061-77531071
4	POLR2A	chr11:77530363-77531172	PBDE	blood:	n/a	n/a
5	TCF12	chr11:77530440-77532501	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr11:77530370-77531305	GM12878	blood:	n/a	n/a
7	CTBP2	chr11:77530413-77532671	H1-hESC	embryonic stem cell:	n/a	n/a
8	PAX5	chr11:77530315-77530938	GM12878	blood:	n/a	n/a
9	ELF1	chr11:77530297-77531467	GM12878	blood:	n/a	n/a
10	RUNX3	chr11:77530314-77531284	GM12878	blood:	n/a	n/a
11	RELA	chr11:77530424-77531157	GM19099	blood:	n/a	n/a
12	MAX	chr11:77530209-77532845	A549	lung:	n/a	chr11:77532137-77532147 chr11:77531061-77531071
13	SIN3AK20	chr11:77530547-77531080	A549	lung:	n/a	n/a
14	TAF1	chr11:77530598-77530888	SK-N-SH	brain:	n/a	n/a
15	TBP	chr11:77530399-77532583	K562	blood:	n/a	n/a
16	MAX	chr11:77530325-77531245	H1-hESC	embryonic stem cell:	n/a	chr11:77531061-77531071
17	POLR2A	chr11:77530246-77532463	GM12892	blood:	n/a	n/a
18	SP4	chr11:77530651-77531259	H1-hESC	embryonic stem cell:	n/a	chr11:77530815-77530826
19	RCOR1	chr11:77530302-77531014	GM12878	blood:	n/a	n/a
20	SP1	chr11:77530548-77531048	H1-hESC	embryonic stem cell:	n/a	chr11:77530815-77530826 chr11:77530675-77530689 chr11:77530925-77530939
21	POLR2A	chr11:77530372-77532645	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr11:77530425-77531053	MCF10A-Er-Src	breast:	n/a	n/a
23	EP300	chr11:77530685-77530884	HepG2	liver:	n/a	n/a
24	ATF2	chr11:77530572-77531143	H1-hESC	embryonic stem cell:	n/a	n/a
25	SP1	chr11:77530377-77531256	A549	lung:	n/a	chr11:77531061-77531070 chr11:77531111-77531125 chr11:77530815-77530826 chr11:77531143-77531157 chr11:77531061-77531071 chr11:77531060-77531072 chr11:77531060-77531072 chr11:77531138-77531151 chr11:77530675-77530689 chr11:77530925-77530939 chr11:77531062-77531071
26	ZNF143	chr11:77530379-77532355	GM12878	blood:	n/a	chr11:77531413-77531423 chr11:77531345-77531363
27	TEAD4	chr11:77530354-77531338	K562	blood:	n/a	n/a
28	YY1	chr11:77530354-77531046	HCT-116	colon:	n/a	chr11:77530527-77530538 chr11:77530463-77530477
29	MAZ	chr11:77530350-77532883	K562	blood:	n/a	chr11:77532137-77532147 chr11:77531061-77531071
30	WRNIP1	chr11:77530301-77531064	GM12878	blood:	n/a	n/a
31	POLR2A	chr11:77530292-77532415	GM19099	blood:	n/a	n/a
32	REST	chr11:77530409-77530968	A549	lung:	n/a	chr11:77530500-77530518 chr11:77530463-77530476 chr11:77530610-77530630
33	MAX	chr11:77530303-77532499	GM12878	blood:	n/a	chr11:77532137-77532147 chr11:77531061-77531071
34	TAF1	chr11:77530860-77531213	K562	blood:	n/a	n/a
35	NFATC1	chr11:77530523-77531048	GM12878	blood:	n/a	n/a
36	POLR2A	chr11:77530370-77532718	Hela-S3	cervix:	n/a	n/a
37	MAX	chr11:77530304-77531334	A549	lung:	n/a	chr11:77531061-77531071
38	MAX	chr11:77530291-77530981	SK-N-SH	brain:	n/a	n/a
39	TAF7	chr11:77530649-77532451	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr11:77530176-77532425	GM12891	blood:	n/a	n/a
41	EGR1	chr11:77530793-77531516	K562	blood:	n/a	chr11:77531062-77531077 chr11:77531218-77531228 chr11:77531387-77531397 chr11:77531062-77531072 chr11:77531063-77531076
42	ZNF384	chr11:77530529-77531000	K562	blood:	n/a	n/a
43	MXI1	chr11:77530436-77531033	K562	blood:	n/a	n/a
44	STAT5A	chr11:77530238-77531357	GM12878	blood:	n/a	chr11:77531166-77531178 chr11:77530528-77530540 chr11:77531208-77531220 chr11:77531112-77531124 chr11:77530823-77530835
45	YY1	chr11:77530355-77532315	GM12878	blood:	n/a	chr11:77531219-77531228 chr11:77532093-77532104 chr11:77531416-77531427 chr11:77530527-77530538 chr11:77532139-77532148 chr11:77530463-77530477
46	TAF1	chr11:77530311-77531344	PFSK-1	brain:	n/a	n/a
47	POLR2A	chr11:77530419-77531086	HepG2	liver:	n/a	n/a
48	SIN3A	chr11:77530364-77533062	H1-hESC	embryonic stem cell:	n/a	chr11:77531253-77531264 chr11:77532437-77532450 chr11:77531416-77531427
49	TFAP2C	chr11:77530495-77532902	Hela-S3	cervix:	n/a	chr11:77532145-77532160 chr11:77532175-77532190
50	ELF1	chr11:77530337-77532802	GM12878	blood:	n/a	chr11:77531474-77531486

No.	Distal block	Cell Line	Cell type
1	chr11:77496983..77499630-chr11:77529279..77531478,2	MCF-7	breast:
2	chr11:77523579..77527566-chr11:77528400..77532529,6	K562	blood:
3	chr11:77345294..77350451-chr11:77530428..77533693,5	K562	blood:
4	chr11:77520152..77525474-chr11:77528362..77532820,9	MCF-7	breast:
5	chr11:77530218..77533723-chr11:77703658..77708132,10	MCF-7	breast:
6	chr11:77530642..77533546-chr11:77704642..77706251,3	K562	blood:
7	chr11:77529037..77533619-chr11:77704156..77707997,11	MCF-7	breast:
8	chr11:77529444..77531772-chr11:77755912..77758450,3	MCF-7	breast:
9	chr11:77530309..77533546-chr11:77704751..77707196,4	K562	blood:
10	chr11:77528468..77531025-chr11:77533622..77535888,3	MCF-7	breast:

Variant related genes	Relation type
AAMDC	TF binding region
ENSG00000149262	Chromatin interaction
ENSG00000074201	Chromatin interaction
ENSG00000219529	Chromatin interaction
ENSG00000151364	Chromatin interaction

Extended variants
information (count: 238 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:234)

rs_ID	r²[population]
rs10676933	0.88[EUR][1000 genomes]
rs11237234	0.91[EUR][1000 genomes]
rs11237271	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11237274	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11822592	0.91[EUR][1000 genomes]
rs11823751	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11824150	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11825573	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11827357	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11828664	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12417232	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12417488	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12417760	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12417823	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12418152	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12418476	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12418551	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12418559	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12418734	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12418844	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12419685	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12420092	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12420290	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12420401	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12421391	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12421699	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12574507	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12574999	0.91[EUR][1000 genomes]
rs12575014	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12575150	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12577552	0.90[EUR][1000 genomes]
rs12806790	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1540179	0.91[EUR][1000 genomes]
rs1544272	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1544273	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1544274	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17135800	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17135807	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17135809	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17135811	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17135905	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17135969	0.88[EUR][1000 genomes]
rs1892869	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1893901	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1986474	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2032415	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2051484	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2154973	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2154988	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2186564	0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2186573	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2298820	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28421376	0.91[EUR][1000 genomes]
rs28610388	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28730304	0.91[EUR][1000 genomes]
rs28930682	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34446294	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35546645	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35774637	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3758664	0.80[EUR][1000 genomes]
rs3781616	0.93[EUR][1000 genomes]
rs3781617	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3819211	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3886195	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3949117	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4245454	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4245455	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4269952	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4448713	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4491258	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4531493	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4578411	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4944169	0.93[EUR][1000 genomes]
rs4944170	0.91[EUR][1000 genomes]
rs4944171	0.93[EUR][1000 genomes]
rs4944173	0.93[EUR][1000 genomes]
rs4944175	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4944176	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4944178	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4945186	0.87[EUR][1000 genomes]
rs4945187	0.93[EUR][1000 genomes]
rs4945189	0.91[EUR][1000 genomes]
rs4945190	0.91[EUR][1000 genomes]
rs4945191	0.91[EUR][1000 genomes]
rs4945192	0.93[EUR][1000 genomes]
rs4945197	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4945202	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4945203	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4945204	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4945205	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4945209	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4945210	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4945211	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4945212	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4945213	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4945214	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4945215	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4945217	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4945218	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4945219	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4945223	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55881536	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56097222	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56372481	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56817084	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs570786	0.82[AFR][1000 genomes]
rs57332020	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57362996	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57687790	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57805854	0.93[EUR][1000 genomes]
rs57935035	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58020660	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58367448	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58393579	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58395847	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58608947	0.93[EUR][1000 genomes]
rs58720932	0.93[EUR][1000 genomes]
rs58914857	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59191974	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59239088	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59404463	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59459776	0.91[EUR][1000 genomes]
rs59520338	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59581090	0.83[EUR][1000 genomes]
rs59765258	0.93[EUR][1000 genomes]
rs59832115	0.91[EUR][1000 genomes]
rs59969402	0.93[EUR][1000 genomes]
rs60132034	0.93[EUR][1000 genomes]
rs60186049	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60208812	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60929773	0.93[EUR][1000 genomes]
rs60948958	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61201484	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61358482	0.91[EUR][1000 genomes]
rs61361232	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61397357	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61468764	0.91[EUR][1000 genomes]
rs61576111	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61605540	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6592736	0.88[EUR][1000 genomes]
rs6592740	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6592742	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66472445	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66488360	0.93[EUR][1000 genomes]
rs66504136	0.93[EUR][1000 genomes]
rs66622455	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66658383	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs66664368	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66675536	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66681087	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66684353	0.93[EUR][1000 genomes]
rs66738005	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66895426	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66924979	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66991096	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67035387	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67195676	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67200285	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67230007	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67241586	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs67291795	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67313689	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67555375	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67606281	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67680371	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67724005	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67736392	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67769372	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67775318	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67807487	0.91[EUR][1000 genomes]
rs67875187	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67881763	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs68013767	0.93[EUR][1000 genomes]
rs68146267	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7104540	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7105526	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7106113	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7106659	0.87[EUR][1000 genomes]
rs7109199	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7109398	0.91[EUR][1000 genomes]
rs7109527	0.93[EUR][1000 genomes]
rs7109704	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7110322	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7110844	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7113415	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7116671	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7118516	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7119471	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7119665	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7120465	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7123204	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7124030	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7124116	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7124753	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7126909	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7127803	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7128881	0.93[EUR][1000 genomes]
rs713083	0.91[EUR][1000 genomes]
rs7131169	0.91[EUR][1000 genomes]
rs7131298	0.91[EUR][1000 genomes]
rs720383	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72931818	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72931829	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72935512	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72939439	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72939448	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72939452	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72939456	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72945566	0.93[EUR][1000 genomes]
rs72945586	0.93[EUR][1000 genomes]
rs72947606	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72947636	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72947653	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72949614	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72949656	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73491984	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73495923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7482006	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7925252	0.90[EUR][1000 genomes]
rs7930066	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7930885	0.93[EUR][1000 genomes]
rs7930988	0.91[EUR][1000 genomes]
rs7931215	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7932057	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7936904	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7937983	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7939623	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7941418	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7942838	0.88[EUR][1000 genomes]
rs7947859	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7950631	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7951172	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9667816	0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9667819	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050891	chr11:77416645-77788002	Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1037292	chr11:77431583-77745934	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv541092	chr11:77431583-77745934	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv949316	chr11:77454076-77769885	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs57222975	RP11-91P24.6	cis	Thyroid	GTEx
rs57222975	RP11-91P24.6	cis	Artery Tibial	GTEx
rs57222975	RP11-91P24.7	cis	Artery Tibial	GTEx
rs57222975	RP11-91P24.6	cis	Nerve Tibial	GTEx
rs57222975	AAMDC	cis	Artery Tibial	GTEx
rs57222975	RSF1	Cis_1M	lymphoblastoid	RTeQTL
rs57222975	INTS4	Cis_1M	lymphoblastoid	RTeQTL
rs57222975	AAMDC	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77529000-77533200	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr11:77529200-77533400	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr11:77529600-77532800	Active TSS	K562	blood
4	chr11:77529600-77533200	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr11:77529800-77531000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr11:77529800-77531000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:77529800-77533000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:77529800-77533200	Active TSS	H1 Cell Line	embryonic stem cell
9	chr11:77529800-77533400	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr11:77530000-77531000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr11:77530000-77531000	Flanking Active TSS	Colonic Mucosa	Colon
12	chr11:77530000-77531000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr11:77530000-77532400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:77530000-77532800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr11:77530000-77533200	Active TSS	HSMMtube	muscle
16	chr11:77530000-77533600	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr11:77530000-77533600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:77530000-77534400	Active TSS	A549	lung
19	chr11:77530200-77531000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr11:77530200-77531000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr11:77530200-77531000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:77530200-77531000	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr11:77530200-77531000	Flanking Active TSS	Liver	Liver
24	chr11:77530200-77531000	Active TSS	Right Atrium	heart
25	chr11:77530200-77531000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr11:77530200-77531200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
27	chr11:77530200-77531200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr11:77530200-77531200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr11:77530200-77532400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr11:77530200-77532400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:77530200-77532800	Active TSS	Brain Angular Gyrus	brain
32	chr11:77530200-77532800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr11:77530200-77533000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr11:77530200-77533000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:77530200-77533000	Active TSS	H9 Cell Line	embryonic stem cell
36	chr11:77530200-77533000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr11:77530200-77533000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr11:77530200-77533000	Active TSS	Aorta	Aorta
39	chr11:77530200-77533000	Active TSS	Esophagus	oesophagus
40	chr11:77530200-77533000	Active TSS	Placenta Amnion	Placenta Amnion
41	chr11:77530200-77533000	Active TSS	Psoas Muscle	Psoas
42	chr11:77530200-77533200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
43	chr11:77530200-77533200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr11:77530200-77533200	Active TSS	Fetal Muscle Trunk	muscle
45	chr11:77530200-77533400	Active TSS	HSMM	muscle
46	chr11:77530200-77533600	Active TSS	Ovary	ovary
47	chr11:77530400-77531000	Active TSS	Fetal Brain Female	brain
48	chr11:77530400-77531000	Active TSS	Fetal Heart	heart
49	chr11:77530400-77532200	Active TSS	Rectal Mucosa Donor 31	rectum
50	chr11:77530400-77532400	Active TSS	Primary T killer memory cells from peripheral blood	blood

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Variant report

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