Variant report

Variant	rs73495923
Chromosome Location	chr11:77531526-77531527
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	YY1	chr11:77531143-77532157	GM12891	blood:	n/a	chr11:77531219-77531228 chr11:77532093-77532104 chr11:77531416-77531427 chr11:77532139-77532148
2	TAF1	chr11:77531031-77532431	HepG2	liver:	n/a	n/a
3	EP300	chr11:77531395-77532527	SK-N-SH	brain:	n/a	n/a
4	SP1	chr11:77531380-77532618	HCT-116	colon:	n/a	chr11:77532135-77532149 chr11:77532097-77532109 chr11:77532138-77532150 chr11:77531984-77531995 chr11:77531381-77531393 chr11:77532139-77532149 chr11:77532099-77532108 chr11:77531386-77531398 chr11:77532071-77532080 chr11:77532139-77532148 chr11:77531387-77531396 chr11:77531388-77531397 chr11:77532071-77532080 chr11:77532140-77532149 chr11:77532097-77532109 chr11:77532094-77532108 chr11:77532070-77532079 chr11:77532009-77532020 chr11:77531386-77531398 chr11:77532140-77532149 chr11:77531995-77532006 chr11:77532138-77532150 chr11:77532069-77532081 chr11:77532139-77532149 chr11:77532121-77532142 chr11:77531387-77531401
5	RELA	chr11:77530351-77532841	GM12891	blood:	n/a	n/a
6	MAX	chr11:77530362-77532614	Hela-S3	cervix:	n/a	chr11:77532137-77532147 chr11:77531061-77531071
7	HEY1	chr11:77531450-77532490	HepG2	liver:	n/a	n/a
8	TAF1	chr11:77531412-77532508	MCF-7	breast:	n/a	n/a
9	TCF12	chr11:77530440-77532501	ECC-1	luminal epithelium:	n/a	n/a
10	HEY1	chr11:77531037-77532069	K562	blood:	n/a	chr11:77531351-77531366 chr11:77531378-77531393
11	CTBP2	chr11:77530413-77532671	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr11:77530209-77532845	A549	lung:	n/a	chr11:77532137-77532147 chr11:77531061-77531071
13	YY1	chr11:77531148-77531976	K562	blood:	n/a	chr11:77531219-77531228 chr11:77531416-77531427
14	TAF1	chr11:77531524-77532600	PFSK-1	brain:	n/a	n/a
15	TBP	chr11:77530399-77532583	K562	blood:	n/a	n/a
16	YY1	chr11:77531121-77532381	SK-N-SH_RA	brain:	n/a	chr11:77531219-77531228 chr11:77532093-77532104 chr11:77531416-77531427 chr11:77532139-77532148
17	POLR2A	chr11:77530246-77532463	GM12892	blood:	n/a	n/a
18	YY1	chr11:77531401-77532230	ECC-1	luminal epithelium:	n/a	chr11:77532093-77532104 chr11:77531416-77531427 chr11:77532139-77532148
19	POLR2A	chr11:77531420-77532072	A549	lung:	n/a	n/a
20	POLR2A	chr11:77531461-77532560	PBDE	blood:	n/a	n/a
21	POLR2A	chr11:77530372-77532645	Hela-S3	cervix:	n/a	n/a
22	ZNF143	chr11:77530379-77532355	GM12878	blood:	n/a	chr11:77531413-77531423 chr11:77531345-77531363
23	POLR2A	chr11:77531504-77532377	SK-N-MC	brain:	n/a	n/a
24	MYBL2	chr11:77531495-77532519	HepG2	liver:	n/a	n/a
25	MAZ	chr11:77530350-77532883	K562	blood:	n/a	chr11:77532137-77532147 chr11:77531061-77531071
26	REST	chr11:77531394-77532534	PFSK-1	brain:	n/a	chr11:77531412-77531422 chr11:77531507-77531525
27	POLR2A	chr11:77530292-77532415	GM19099	blood:	n/a	n/a
28	TAF1	chr11:77530928-77532446	ECC-1	luminal epithelium:	n/a	n/a
29	YY1	chr11:77531466-77532066	K562	blood:	n/a	n/a
30	TAF1	chr11:77531269-77532539	MCF-7	breast:	n/a	n/a
31	POLR2A	chr11:77531502-77532042	GM12891	blood:	n/a	n/a
32	E2F4	chr11:77531526-77532294	MCF10A-Er-Src	breast:	n/a	chr11:77531982-77531993 chr11:77531974-77531981 chr11:77531994-77532006 chr11:77532139-77532148
33	YY1	chr11:77531314-77532309	HCT-116	colon:	n/a	chr11:77532093-77532104 chr11:77531416-77531427 chr11:77532139-77532148
34	MAX	chr11:77530303-77532499	GM12878	blood:	n/a	chr11:77532137-77532147 chr11:77531061-77531071
35	POLR2A	chr11:77531442-77532600	HCT-116	colon:	n/a	n/a
36	POLR2A	chr11:77530370-77532718	Hela-S3	cervix:	n/a	n/a
37	CEBPD	chr11:77531521-77532089	HepG2	liver:	n/a	n/a
38	TAF7	chr11:77530649-77532451	H1-hESC	embryonic stem cell:	n/a	n/a
39	TCF12	chr11:77531483-77532545	A549	lung:	n/a	n/a
40	POLR2A	chr11:77530176-77532425	GM12891	blood:	n/a	n/a
41	POLR2A	chr11:77531520-77532458	MCF10A-Er-Src	breast:	n/a	n/a
42	BCL3	chr11:77531512-77532433	A549	lung:	n/a	chr11:77531979-77531988 chr11:77532153-77532161
43	POLR2A	chr11:77531008-77532311	GM12878	blood:	n/a	n/a
44	YY1	chr11:77531227-77532047	GM12892	blood:	n/a	chr11:77531416-77531427
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	YY1	chr11:77531462-77532051	GM12891	blood:	n/a	n/a
47	POLR2A	chr11:77531485-77532419	HUVEC	blood vessel:	n/a	n/a
48	POLR2A	chr11:77531031-77532434	K562	blood:	n/a	n/a
49	SIN3A	chr11:77530364-77533062	H1-hESC	embryonic stem cell:	n/a	chr11:77531253-77531264 chr11:77532437-77532450 chr11:77531416-77531427
50	CHD2	chr11:77531502-77532358	H1-hESC	embryonic stem cell:	n/a	chr11:77531974-77531981 chr11:77532071-77532081

No.	Distal block	Cell Line	Cell type
1	chr11:77523579..77527566-chr11:77528400..77532529,6	K562	blood:
2	chr1:179262860..179263465-chr11:77531402..77532037,2	Hela-S3	cervix:
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	chr11:77531411..77532232-chr11:77757051..77757752,2	K562	blood:
9	chr1:28879354..28879945-chr11:77531318..77531907,2	NB4	blood:
10	chr11:77529444..77531772-chr11:77755912..77758450,3	MCF-7	breast:
11	chr11:77530309..77533546-chr11:77704751..77707196,4	K562	blood:

Variant related genes	Relation type
AAMDC	TF binding region
ENSG00000219529	Chromatin interaction
ENSG00000057252	Chromatin interaction
ENSG00000149262	Chromatin interaction
ENSG00000180098	Chromatin interaction
ENSG00000074201	Chromatin interaction
ENSG00000151364	Chromatin interaction

Extended variants
information (count: 238 )
Associated
traits (count: 5 )

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]
rs57222975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][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]
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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs73495923	RP11-91P24.6	cis	Thyroid	GTEx
rs73495923	RP11-91P24.7	cis	Artery Tibial	GTEx
rs73495923	AAMDC	cis	Thyroid	GTEx
rs73495923	AAMDC	cis	Artery Tibial	GTEx
rs73495923	RP11-91P24.6	cis	Artery Tibial	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	chr11:77529800-77533000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:77529800-77533200	Active TSS	H1 Cell Line	embryonic stem cell
7	chr11:77529800-77533400	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr11:77530000-77532400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:77530000-77532800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:77530000-77533200	Active TSS	HSMMtube	muscle
11	chr11:77530000-77533600	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr11:77530000-77533600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:77530000-77534400	Active TSS	A549	lung
14	chr11:77530200-77532400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:77530200-77532400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr11:77530200-77532800	Active TSS	Brain Angular Gyrus	brain
17	chr11:77530200-77532800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr11:77530200-77533000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr11:77530200-77533000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:77530200-77533000	Active TSS	H9 Cell Line	embryonic stem cell
21	chr11:77530200-77533000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:77530200-77533000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr11:77530200-77533000	Active TSS	Aorta	Aorta
24	chr11:77530200-77533000	Active TSS	Esophagus	oesophagus
25	chr11:77530200-77533000	Active TSS	Placenta Amnion	Placenta Amnion
26	chr11:77530200-77533000	Active TSS	Psoas Muscle	Psoas
27	chr11:77530200-77533200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr11:77530200-77533200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr11:77530200-77533200	Active TSS	Fetal Muscle Trunk	muscle
30	chr11:77530200-77533400	Active TSS	HSMM	muscle
31	chr11:77530200-77533600	Active TSS	Ovary	ovary
32	chr11:77530400-77532200	Active TSS	Rectal Mucosa Donor 31	rectum
33	chr11:77530400-77532400	Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr11:77530400-77532400	Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr11:77530400-77532400	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr11:77530400-77532400	Active TSS	Fetal Brain Male	brain
37	chr11:77530400-77532600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr11:77530400-77532600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:77530400-77532600	Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr11:77530400-77532600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
41	chr11:77530400-77532600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr11:77530400-77532600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr11:77530400-77532600	Active TSS	Brain Anterior Caudate	brain
44	chr11:77530400-77532600	Active TSS	Brain Cingulate Gyrus	brain
45	chr11:77530400-77532600	Active TSS	Pancreas	Pancrea
46	chr11:77530400-77532800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr11:77530400-77532800	Active TSS	Brain Hippocampus Middle	brain
48	chr11:77530400-77532800	Active TSS	Brain Substantia Nigra	brain
49	chr11:77530400-77532800	Active TSS	Small Intestine	intestine
50	chr11:77530400-77532800	Active TSS	Stomach Mucosa	stomach

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Variant report

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