Variant report

Variant	rs1053245
Chromosome Location	chr13:53029335-53029336
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	CREB1	chr13:53028961-53030175	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr13:53029318-53029794	A549	lung:	n/a	n/a
3	MXI1	chr13:53027965-53030679	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr13:53028515-53030244	Hela-S3	cervix:	n/a	n/a
5	RFX5	chr13:53028040-53030991	SK-N-SH	brain:	n/a	chr13:53029276-53029285 chr13:53029497-53029512 chr13:53029500-53029509 chr13:53029536-53029545
6	TAF1	chr13:53028998-53030236	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr13:53028626-53030360	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr13:53029300-53029450	K562	blood:	n/a	n/a
9	RFX5	chr13:53029029-53030101	GM12878	blood:	n/a	chr13:53029276-53029285 chr13:53029497-53029512 chr13:53029500-53029509 chr13:53029536-53029545
10	MXI1	chr13:53029074-53029595	H1-hESC	embryonic stem cell:	n/a	n/a
11	TBL1XR1	chr13:53029111-53030367	K562	blood:	n/a	n/a
12	POLR2A	chr13:53029150-53030213	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr13:53029110-53030261	PANC-1	pancreas:	n/a	n/a
14	TAF1	chr13:53029279-53030150	HepG2	liver:	n/a	n/a
15	YY1	chr13:53029226-53029679	K562	blood:	n/a	chr13:53029613-53029627 chr13:53029620-53029631
16	POLR2A	chr13:53029132-53030478	HepG2	liver:	n/a	n/a
17	TAF1	chr13:53029208-53029840	MCF-7	breast:	n/a	n/a
18	USF2	chr13:53029043-53029575	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr13:53029004-53030173	K562	blood:	n/a	n/a
20	POLR2A	chr13:53029126-53030322	ECC-1	luminal epithelium:	n/a	n/a
21	TAF1	chr13:53029304-53029734	GM12892	blood:	n/a	n/a
22	EP300	chr13:53028380-53030182	GM12878	blood:	n/a	chr13:53029065-53029079 chr13:53028988-53029002
23	EP300	chr13:53029185-53030090	K562	blood:	n/a	n/a
24	POU2F2	chr13:53029004-53029731	GM12878	blood:	n/a	chr13:53029044-53029057
25	CREB1	chr13:53029057-53030204	A549	lung:	n/a	n/a
26	MXI1	chr13:53028647-53030036	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr13:53029046-53030080	GM12892	blood:	n/a	n/a
28	TBP	chr13:53029161-53030259	H1-hESC	embryonic stem cell:	n/a	n/a
29	STAT5A	chr13:53028650-53029495	GM12878	blood:	n/a	n/a
30	FOXP2	chr13:53029022-53029637	SK-N-MC	brain:	n/a	n/a
31	POLR2A	chr13:53029207-53030233	HepG2	liver:	n/a	n/a
32	STAT1	chr13:53028630-53029767	GM12878	blood:	n/a	n/a
33	POLR2A	chr13:53029238-53030171	GM10847	blood:	n/a	n/a
34	ELF1	chr13:53029264-53029809	GM12878	blood:	n/a	n/a
35	POLR2A	chr13:53029152-53031480	K562	blood:	n/a	n/a
36	SP1	chr13:53028990-53030195	HCT-116	colon:	n/a	chr13:53030075-53030084 chr13:53029526-53029547 chr13:53030075-53030085 chr13:53030074-53030086 chr13:53030076-53030085 chr13:53030074-53030086 chr13:53029520-53029534 chr13:53030076-53030085 chr13:53029519-53029531 chr13:53030075-53030085 chr13:53029404-53029415 chr13:53030071-53030085 chr13:53029561-53029582
37	CTCF	chr13:53029095-53030375	K562	blood:	n/a	n/a
38	MAX	chr13:53028472-53030395	NB4	blood:	n/a	n/a
39	FOS	chr13:53029180-53029502	MCF10A-Er-Src	breast:	n/a	n/a
40	EP300	chr13:53029167-53029854	SK-N-SH_RA	brain:	n/a	n/a
41	ARID3A	chr13:53029122-53030383	HepG2	liver:	n/a	n/a
42	MYBL2	chr13:53029042-53030223	HepG2	liver:	n/a	n/a
43	TAF1	chr13:53029222-53029768	Hela-S3	cervix:	n/a	n/a
44	TAF1	chr13:53029140-53030157	K562	blood:	n/a	n/a
45	POLR2A	chr13:53029090-53030264	K562	blood:	n/a	n/a
46	FOXM1	chr13:53029007-53030183	SK-N-SH	brain:	n/a	n/a
47	POLR2A	chr13:53029034-53030175	GM12878	blood:	n/a	n/a
48	POLR2A	chr13:53029048-53029881	GM12891	blood:	n/a	n/a
49	MAFK	chr13:53029060-53030329	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr13:53028992-53029798	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:53344450..53346377-chr13:53029194..53030956,2	MCF-7	breast:
2	chr13:53029063..53030012-chrX:153718459..153719167,2	Hela-S3	cervix:
3	chr13:52989175..52991145-chr13:53028466..53031085,2	MCF-7	breast:
4	chr13:53029255..53030110-chr8:54934384..54934889,2	HCT-116	colon:
5	chr13:53028109..53029845-chr13:53190052..53193351,3	MCF-7	breast:
6	chr13:53029326..53030088-chr16:2204666..2205482,2	Hela-S3	cervix:
7	chr13:53023259..53027625-chr13:53027753..53030727,5	MCF-7	breast:
8	chr13:52377836..52379871-chr13:53028245..53029773,2	K562	blood:
9	chr13:52025134..52027888-chr13:53029090..53030597,2	MCF-7	breast:
10	chr1:155023406..155024318-chr13:53029329..53030119,2	NB4	blood:

Variant related genes	Relation type
VPS36	TF binding region
CKAP2	TF binding region
ENSG00000260260	Chromatin interaction
ENSG00000187735	Chromatin interaction
ENSG00000126903	Chromatin interaction
ENSG00000236778	Chromatin interaction
ENSG00000136100	Chromatin interaction
ENSG00000265039	Chromatin interaction
ENSG00000206630	Chromatin interaction
ENSG00000102786	Chromatin interaction
ENSG00000102796	Chromatin interaction
ENSG00000231856	Chromatin interaction
ENSG00000139675	Chromatin interaction
ENSG00000250299	Chromatin interaction
ENSG00000143537	Chromatin interaction
ENSG00000111057	Chromatin interaction

Extended variants
information (count: 187 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:179)

rs_ID	r²[population]
rs11148250	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11148251	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12184815	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17087405	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28589286	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28756262	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34355831	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35975899	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41292810	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41292818	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55850688	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56173235	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56249382	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57412438	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57831032	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57904860	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58655347	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60322427	1.00[ASN][1000 genomes]
rs60406129	1.00[ASN][1000 genomes]
rs61011708	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61171418	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61677410	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61957307	1.00[ASN][1000 genomes]
rs61957966	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61957967	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61957976	1.00[ASN][1000 genomes]
rs61957977	1.00[ASN][1000 genomes]
rs61957978	1.00[ASN][1000 genomes]
rs61957980	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61957981	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61957982	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61957983	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61957984	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61957986	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61957987	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61957988	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61957989	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61957993	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61957995	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61957996	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61957997	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958009	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958010	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958011	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958012	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958013	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958014	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958016	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958017	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958018	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958019	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958020	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958023	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958024	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958025	0.97[EUR][1000 genomes]
rs61958026	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958048	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958049	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958051	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958052	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958053	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958055	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958057	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958058	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61958059	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959660	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959661	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959663	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959664	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959666	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959667	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959669	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959670	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959672	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959673	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959674	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959675	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959676	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959677	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959679	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959698	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959702	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959706	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959707	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61959784	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7331858	0.87[ASN][1000 genomes]
rs7983047	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526881	0.86[ASN][1000 genomes]
rs9526882	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526888	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526890	1.00[ASN][1000 genomes]
rs9526892	1.00[ASN][1000 genomes]
rs9526895	1.00[ASN][1000 genomes]
rs9526896	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526897	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526898	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526901	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9526902	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526903	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526905	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9526906	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526908	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526909	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526910	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526915	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526916	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526924	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9526926	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535975	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535991	0.86[ASN][1000 genomes]
rs9536003	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9536004	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536005	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9536007	0.86[ASN][1000 genomes]
rs9536008	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536009	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536018	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536019	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536020	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536022	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536023	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536025	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536026	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536027	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536028	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536029	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536031	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536033	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536034	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536036	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536037	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536038	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536039	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9536040	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536041	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536042	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536043	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536044	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9536045	0.97[EUR][1000 genomes]
rs9536047	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536049	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536050	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536051	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536053	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536054	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536056	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536057	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536058	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536059	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536060	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536061	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536062	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536063	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536064	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536065	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536067	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536068	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536070	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536072	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536073	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536074	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536076	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536077	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536078	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536080	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536081	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536083	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536084	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536085	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536087	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9536088	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9536090	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9536097	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9536098	0.81[EUR][1000 genomes]
rs9536099	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9596645	1.00[ASN][1000 genomes]
rs9741870	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv934070	chr13:52362588-53174923	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv1040931	chr13:52564792-53350914	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv541773	chr13:52564792-53350914	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv428288	chr13:52728370-53068132	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv900084	chr13:52835231-53119704	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	esv1838257	chr13:52971893-53231454	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
7	esv3434605	chr13:52999509-53034851	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	n/a
8	nsv900085	chr13:53022518-53216622	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1053245	CKAP2	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53027400-53029400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr13:53028200-53030600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr13:53028200-53030800	Active TSS	Brain Angular Gyrus	brain
4	chr13:53028400-53029400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
5	chr13:53028400-53030200	Active TSS	Brain Cingulate Gyrus	brain
6	chr13:53028400-53030400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr13:53028400-53030400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr13:53028400-53030400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr13:53028400-53030400	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr13:53028400-53030400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr13:53028400-53030400	Active TSS	Rectal Smooth Muscle	rectum
12	chr13:53028400-53030400	Active TSS	NHDF-Ad	bronchial
13	chr13:53028400-53030600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr13:53028400-53030600	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr13:53028400-53030600	Active TSS	Colonic Mucosa	Colon
16	chr13:53028400-53030600	Active TSS	Fetal Intestine Large	intestine
17	chr13:53028400-53030600	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr13:53028400-53030600	Active TSS	K562	blood
19	chr13:53028400-53030800	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr13:53028400-53030800	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr13:53028400-53030800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr13:53028400-53030800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr13:53028400-53031000	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr13:53028400-53031600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr13:53028600-53029400	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr13:53028600-53029400	Flanking Active TSS	Liver	Liver
27	chr13:53028600-53029400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr13:53028600-53030400	Active TSS	Esophagus	oesophagus
29	chr13:53028600-53030400	Active TSS	Fetal Heart	heart
30	chr13:53028600-53030400	Active TSS	Stomach Mucosa	stomach
31	chr13:53028600-53030600	Active TSS	H9 Cell Line	embryonic stem cell
32	chr13:53028600-53030600	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr13:53028600-53030600	Active TSS	Hela-S3	cervix
34	chr13:53028600-53031000	Active TSS	A549	lung
35	chr13:53028600-53033200	Active TSS	GM12878-XiMat	blood
36	chr13:53028800-53029600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr13:53028800-53030000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr13:53028800-53030200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr13:53028800-53030200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr13:53028800-53030200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr13:53028800-53030200	Active TSS	Primary B cells from peripheral blood	blood
42	chr13:53028800-53030200	Active TSS	Primary T killer memory cells from peripheral blood	blood
43	chr13:53028800-53030200	Active TSS	Gastric	stomach
44	chr13:53028800-53030400	Active TSS	iPS-20b Cell Line	embryonic stem cell
45	chr13:53028800-53030400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr13:53028800-53030400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr13:53028800-53030400	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr13:53028800-53030400	Active TSS	Muscle Satellite Cultured Cells	--
49	chr13:53028800-53030400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr13:53028800-53030400	Active TSS	Brain Substantia Nigra	brain

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