Variant report

Variant	rs3809472
Chromosome Location	chr15:45694318-45694319
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:415)
CpG islands
(count:61)
Chromatin interactive
region (count:25)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:415 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:45693792-45695227	GM12878	blood:	n/a	n/a
2	TAF1	chr15:45694226-45694749	GM12892	blood:	n/a	n/a
3	CEBPB	chr15:45694050-45695135	IMR90	lung:	n/a	n/a
4	POLR2A	chr15:45693983-45695356	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr15:45694204-45695771	GM12878	blood:	n/a	n/a
6	TBP	chr15:45694207-45694978	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr15:45694025-45694878	PFSK-1	brain:	n/a	n/a
8	HDAC2	chr15:45694306-45694780	MCF-7	breast:	n/a	chr15:45694523-45694532
9	GABPA	chr15:45694316-45695154	GM12878	blood:	n/a	chr15:45694521-45694535 chr15:45694523-45694532 chr15:45694562-45694569 chr15:45694521-45694530 chr15:45694521-45694532
10	MAX	chr15:45693878-45695301	ECC-1	luminal epithelium:	n/a	n/a
11	GTF2F1	chr15:45694214-45694820	K562	blood:	n/a	n/a
12	TAF1	chr15:45694183-45695250	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr15:45694009-45695355	GM18526	blood:	n/a	n/a
14	POLR2A	chr15:45693992-45694956	HUVEC	blood vessel:	n/a	n/a
15	BRCA1	chr15:45694159-45694701	HepG2	liver:	n/a	n/a
16	POLR2A	chr15:45694272-45695176	A549	lung:	n/a	n/a
17	FOXP2	chr15:45694306-45694624	SK-N-MC	brain:	n/a	n/a
18	MAZ	chr15:45693871-45695868	K562	blood:	n/a	n/a
19	GABPA	chr15:45694218-45694787	K562	blood:	n/a	chr15:45694521-45694535 chr15:45694523-45694532 chr15:45694562-45694569 chr15:45694521-45694530 chr15:45694521-45694532
20	GTF2B	chr15:45694244-45694679	K562	blood:	n/a	n/a
21	TEAD4	chr15:45693921-45694804	K562	blood:	n/a	n/a
22	REST	chr15:45694292-45694764	PANC-1	pancreas:	n/a	n/a
23	CEBPD	chr15:45694222-45694722	HepG2	liver:	n/a	n/a
24	POLR2A	chr15:45693764-45695111	K562	blood:	n/a	n/a
25	POLR2A	chr15:45694215-45695179	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr15:45694160-45695038	MCF-7	breast:	n/a	n/a
27	GTF2F1	chr15:45693910-45694725	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr15:45694069-45694880	HCT-116	colon:	n/a	n/a
29	POLR2A	chr15:45694147-45695015	HCT-116	colon:	n/a	n/a
30	POLR2A	chr15:45693891-45695837	HepG2	liver:	n/a	n/a
31	NFYA	chr15:45694023-45694757	Hela-S3	cervix:	n/a	chr15:45694463-45694481
32	MAX	chr15:45693960-45696081	Hela-S3	cervix:	n/a	n/a
33	CHD2	chr15:45694175-45694812	HepG2	liver:	n/a	n/a
34	PBX3	chr15:45694194-45694772	A549	lung:	n/a	n/a
35	BCL3	chr15:45694218-45694679	A549	lung:	n/a	n/a
36	MTA3	chr15:45693666-45695134	GM12878	blood:	n/a	n/a
37	SP1	chr15:45694187-45694711	HepG2	liver:	n/a	n/a
38	BHLHE40	chr15:45694311-45694710	GM12878	blood:	n/a	n/a
39	E2F6	chr15:45694297-45695251	H1-hESC	embryonic stem cell:	n/a	chr15:45694522-45694531
40	TRIM28	chr15:45694063-45694776	K562	blood:	n/a	n/a
41	RCOR1	chr15:45694192-45694847	GM12878	blood:	n/a	n/a
42	MBD4	chr15:45693958-45694690	HepG2	liver:	n/a	n/a
43	RCOR1	chr15:45693605-45695236	IMR90	lung:	n/a	n/a
44	YY1	chr15:45694265-45694885	K562	blood:	n/a	n/a
45	SMC3	chr15:45694214-45694690	HepG2	liver:	n/a	n/a
46	USF2	chr15:45693976-45694705	Hela-S3	cervix:	n/a	chr15:45694130-45694141
47	CREB1	chr15:45694222-45694717	H1-hESC	embryonic stem cell:	n/a	n/a
48	MAX	chr15:45693906-45695241	GM12878	blood:	n/a	n/a
49	CEBPB	chr15:45694188-45694693	A549	lung:	n/a	n/a
50	SP2	chr15:45694219-45694734	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:45694286-45694336	A549	lung:	n/a
2	chr15:45694286-45694336	HEEpiC	esophagus:	n/a
3	chr15:45694286-45694336	HAEpiC	amniotic membrane:	n/a
4	chr15:45694286-45694336	PrEC	prostate:	n/a
5	chr15:45694286-45694336	T-47D	breast:	n/a
6	chr15:45694286-45694336	AoSMC	blood vessel:	n/a
7	chr15:45694286-45694336	AG09309	skin:	n/a
8	chr15:45694286-45694336	HRPEpiC	eye:	n/a
9	chr15:45694286-45694336	AG04449	skin:	fetal
10	chr15:45694286-45694336	HRE	kidney:	n/a
11	chr15:45694286-45694336	MCF-7	breast:	n/a
12	chr15:45694286-45694336	HCF	heart:	n/a
13	chr15:45694286-45694336	GM06990	blood:	n/a
14	chr15:45694286-45694336	U87	brain:	n/a
15	chr15:45694286-45694336	HEK293	kidney:	embryo
16	chr15:45694286-45694336	RPTEC	kidney:	n/a
17	chr15:45694286-45694336	Jurkat	blood:	n/a
18	chr15:45694286-45694336	HepG2	liver:	n/a
19	chr15:45694286-45694336	HRCEpiC	kidney:	n/a
20	chr15:45694286-45694336	GM19239	blood:	n/a
21	chr15:45694286-45694336	SK-N-SH	brain:	n/a
22	chr15:45694286-45694336	ProgFib	skin:	n/a
23	chr15:45694286-45694336	HCPEpiC	choroid plexus:	n/a
24	chr15:45694286-45694336	PFSK-1	brain:	n/a
25	chr15:45694286-45694336	HNPCEpiC	eye:	n/a
26	chr15:45694286-45694336	HMEC	breast:	n/a
27	chr15:45694286-45694336	HCM	heart:	n/a
28	chr15:45694286-45694336	AG10803	skin:	n/a
29	chr15:45694286-45694336	MCF10A-Er-Src	breast:	n/a
30	chr15:45694286-45694336	SAEC	small airway:	n/a
31	chr15:45694286-45694336	NH-A	brain:	n/a
32	chr15:45694286-45694336	ECC-1	luminal epithelium:	n/a
33	chr15:45694286-45694336	NT2-D1	testis:	n/a
34	chr15:45694286-45694336	HIPEpiC	eye:	n/a
35	chr15:45694286-45694336	BJ	skin:	n/a
36	chr15:45694286-45694336	LNCaP	prostate:	n/a
37	chr15:45694286-45694336	NHDF-neo	bronchial:	n/a
38	chr15:45694286-45694336	BE2_C	brain:	n/a
39	chr15:45694286-45694336	ovcar-3	ovarian:	n/a
40	chr15:45694286-45694336	Caco-2	colon:	n/a
41	chr15:45694286-45694336	GM12891	blood:	n/a
42	chr15:45694286-45694336	AG09319	gingival:	n/a
43	chr15:45694286-45694336	NHBE	bronchial:	n/a
44	chr15:45694286-45694336	NB4	blood:	n/a
45	chr15:45694286-45694336	HUVEC	blood vessel:	n/a
46	chr15:45694286-45694336	PANC-1	pancreas:	n/a
47	chr15:45694286-45694336	Hela-S3	cervix:	n/a
48	chr15:45694286-45694336	AG04450	lung:	fetal
49	chr15:45694286-45694336	Hepatocyte	liver:	n/a
50	chr15:45694286-45694336	HL-60	blood:	n/a

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:45471561..45475350-chr15:45693833..45697444,3	MCF-7	breast:
2	chr12:44199711..44200638-chr15:45694089..45695040,2	NB4	blood:
3	chr15:45443245..45445612-chr15:45693741..45696247,2	K562	blood:
4	chr15:45491292..45493253-chr15:45693461..45696308,4	K562	blood:
5	chr15:45459071..45462844-chr15:45693635..45696532,4	K562	blood:
6	chr15:45693902..45696245-chr15:45709725..45712520,2	K562	blood:
7	chr15:45570708..45573284-chr15:45693152..45695793,2	MCF-7	breast:
8	chr15:45693976..45694707-chrX:48957687..48958360,2	HCT-116	colon:
9	chr15:45694071..45694958-chr7:104653061..104653666,2	Hela-S3	cervix:
10	chr15:45458882..45460694-chr15:45692968..45695992,3	MCF-7	breast:
11	chr15:45692773..45694505-chr15:45738421..45740123,2	MCF-7	breast:
12	chr15:45694132..45694822-chr5:68665207..68665996,2	HCT-116	colon:
13	chr15:45693513..45696404-chr15:45876472..45881031,4	MCF-7	breast:
14	chr15:45489573..45492565-chr15:45693942..45696435,3	MCF-7	breast:
15	chr15:45693986..45696362-chr15:45736299..45740535,4	MCF-7	breast:
16	chr15:45490733..45493253-chr15:45692978..45696308,3	K562	blood:
17	chr15:45693917..45694984-chr6:160210614..160211334,3	Hela-S3	cervix:
18	chr15:45459427..45462384-chr15:45693635..45696116,3	K562	blood:
19	chr15:45693029..45695760-chr15:45741637..45746369,4	MCF-7	breast:
20	chr15:45693949..45694449-chr9:33290338..33290839,2	NB4	blood:
21	chr15:45694225..45694845-chr7:100025841..100026828,2	Hela-S3	cervix:
22	chr15:45694198..45696265-chr15:45878361..45881505,3	K562	blood:
23	chr10:74033457..74033981-chr15:45693872..45694794,2	NB4	blood:
24	chr15:45693316..45695933-chr15:45878534..45881095,2	MCF-7	breast:
25	chr1:28975072..28975687-chr15:45694096..45694823,2	HCT-116	colon:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC30A4-1	chr15:45693879-45694520	ENSG00000230288
2	lnc-SLC30A4-1	chr15:45694097-45694525	ENSG00000230288.4
3	lnc-SLC30A4-1	chr15:45694097-45694513	NONHSAT042242

No data

Variant related genes	Relation type
SPATA5L1	TF binding region
GATM	TF binding region
GATM	CpG island
SPATA5L1	CpG island
ENSG00000078487	Chromatin interaction
ENSG00000259354	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000171763	Chromatin interaction
ENSG00000252285	Chromatin interaction
ENSG00000152942	Chromatin interaction
ENSG00000228393	Chromatin interaction
ENSG00000137857	Chromatin interaction
ENSG00000270103	Chromatin interaction
ENSG00000120438	Chromatin interaction
ENSG00000196998	Chromatin interaction
ENSG00000259519	Chromatin interaction
ENSG00000085231	Chromatin interaction
ENSG00000259932	Chromatin interaction
ENSG00000260170	Chromatin interaction
ENSG00000259520	Chromatin interaction
ENSG00000086102	Chromatin interaction
ENSG00000259539	Chromatin interaction
ENSG00000104164	Chromatin interaction
ENSG00000168209	Chromatin interaction
ENSG00000138606	Chromatin interaction
ENSG00000112110	Chromatin interaction
ENSG00000260035	Chromatin interaction
ENSG00000151239	Chromatin interaction

Extended variants
information (count: 151 )
Associated
traits (count: 25 )

rSNPs within LD-proxies of this variant (count:145)

rs_ID	r²[population]
rs10444821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1049503	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1049508	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10519021	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10519022	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11070453	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11070454	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11070456	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11070457	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1145074	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1145076	0.80[MEX][hapmap]
rs1145077	0.80[MEX][hapmap]
rs1145078	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1145079	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1145081	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1145085	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1145091	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1153847	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1153849	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1153854	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1153858	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11639420	0.80[MEX][hapmap]
rs11852800	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11858495	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12101539	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12437840	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12437887	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12439274	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12439575	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12440038	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12441971	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12591058	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12593230	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12593370	0.93[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12593371	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12593402	0.81[CEU][hapmap];0.84[JPT][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12594857	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12595087	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12595153	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1288775	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12908818	0.80[MEX][hapmap]
rs12909158	0.93[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12913645	0.93[JPT][hapmap];0.92[MEX][hapmap]
rs1346266	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1346267	0.80[MEX][hapmap]
rs1346268	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1365610	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs1554521	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1613559	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1618874	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16941017	0.86[JPT][hapmap]
rs16942000	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16942568	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16943246	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1706824	0.93[JPT][hapmap];0.92[MEX][hapmap]
rs1719231	0.85[CEU][hapmap]
rs1719247	0.93[CEU][hapmap];0.92[CHB][hapmap];0.90[CHD][hapmap];0.93[JPT][hapmap];0.96[MEX][hapmap];0.84[TSI][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1719250	0.87[MEX][hapmap]
rs1820518	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1890565	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1974981	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1980288	0.93[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.89[YRI][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2056493	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2066090	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2114501	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2172874	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2413768	0.80[MEX][hapmap]
rs2413769	0.93[JPT][hapmap];0.92[MEX][hapmap]
rs2413775	0.85[JPT][hapmap]
rs2433228	0.86[JPT][hapmap]
rs2433229	0.85[JPT][hapmap]
rs2433611	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2453541	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2461701	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2461702	1.00[CEU][hapmap]
rs2461705	0.84[MEX][hapmap]
rs2467854	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2467858	0.93[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2467864	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2486272	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2668747	0.93[CEU][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28569043	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28605551	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28679834	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3759895	0.86[JPT][hapmap]
rs3759899	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4271549	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4395020	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4534782	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4572329	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4625670	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4627277	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4774550	0.86[JPT][hapmap]
rs4774577	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4774578	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4774579	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4774580	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4775895	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4775906	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4775907	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4775909	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4775911	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4775937	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55885762	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56669689	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56806728	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56850226	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59889118	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60476496	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61365925	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61524473	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66528868	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66714503	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66939267	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67045941	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67461176	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67744121	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67831559	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs68087211	0.97[ASN][1000 genomes]
rs7163720	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7164139	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7164602	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7167900	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7168414	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7169587	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7169818	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7171163	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7171577	1.00[CEU][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7179743	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7181167	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7182300	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7182723	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7183946	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72623915	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7402632	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7402650	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7494956	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8032904	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8038342	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8039352	0.80[MEX][hapmap]
rs8042786	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs872192	0.80[MEX][hapmap]
rs9783731	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9788780	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9806699	0.81[CEU][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	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv869616	chr15:45401411-45736209	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv569315	chr15:45446156-45772448	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
5	nsv469721	chr15:45608881-45788002	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS 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 miRNA target site	54 gene(s)	inside rSNPs	diseases
6	nsv482380	chr15:45608881-45788002	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

mRNA abundance (count:25)

SNP	Gene	Cis/trans	Tissue	Source
rs3809472	CTD-2651B20.3	cis	lung	GTEx
rs3809472	BMF	cis	parietal	SCAN
rs3809472	SPTBN5	cis	parietal	SCAN
rs3809472	SPATA5L1	cis	parietal	SCAN
rs3809472	SPATA5L1	cis	Whole Blood	GTEx
rs3809472	CTD-2651B20.4	cis	Nerve Tibial	GTEx
rs3809472	SPATA5L1	cis	multi-tissue	Pritchard
rs3809472	CTD-2651B20.3	cis	Artery Tibial	GTEx
rs3809472	SPATA5L1	cis	Esophagus Muscularis	GTEx
rs3809472	GATM	cis	cerebellum	SCAN
rs3809472	SPATA5L1	cis	cerebellum	SCAN
rs3809472	SPATA5L1	cis	lung	GTEx
rs3809472	CTD-2651B20.4	cis	Artery Tibial	GTEx
rs3809472	SPATA5L1	cis	lymphoblastoid	seeQTL
rs3809472	CTD-2651B20.3	cis	Muscle Skeletal	GTEx
rs3809472	GATM	cis	Muscle Skeletal	GTEx
rs3809472	CTD-2651B20.3	cis	Adipose Subcutaneous	GTEx
rs3809472	CTD-2651B20.3	cis	Esophagus Muscularis	GTEx
rs3809472	CTD-2651B20.3	cis	Thyroid	GTEx
rs3809472	SPATA5L1	Cis_1M	lymphoblastoid	RTeQTL
rs3809472	SPATA5L1	cis	Nerve Tibial	GTEx
rs3809472	SHF	cis	parietal	SCAN
rs3809472	SP4	trans	parietal	SCAN
rs3809472	CTD-2651B20.3	cis	Nerve Tibial	GTEx
rs3809472	SPATA5L1	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45693200-45694400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
2	chr15:45693200-45695000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr15:45693200-45696000	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr15:45693200-45696400	Active TSS	Aorta	Aorta
5	chr15:45693200-45696800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr15:45693400-45694400	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr15:45693400-45694600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr15:45693400-45695600	Active TSS	Brain Anterior Caudate	brain
9	chr15:45693400-45696000	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr15:45693400-45696000	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr15:45693400-45696200	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr15:45693400-45696600	Active TSS	H1 Cell Line	embryonic stem cell
13	chr15:45693400-45697000	Active TSS	Fetal Intestine Large	intestine
14	chr15:45693400-45697600	Active TSS	GM12878-XiMat	blood
15	chr15:45693600-45694400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr15:45693600-45694400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr15:45693600-45694400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr15:45693600-45694400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr15:45693600-45694600	Active TSS	Brain Germinal Matrix	brain
20	chr15:45693600-45694800	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr15:45693600-45694800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr15:45693600-45694800	Active TSS	Colonic Mucosa	Colon
23	chr15:45693600-45695400	Active TSS	Right Ventricle	heart
24	chr15:45693600-45695600	Active TSS	Fetal Thymus	thymus
25	chr15:45693600-45695800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr15:45693600-45695800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr15:45693600-45695800	Active TSS	Fetal Brain Male	brain
28	chr15:45693600-45695800	Active TSS	K562	blood
29	chr15:45693600-45696000	Active TSS	HUES64 Cell Line	embryonic stem cell
30	chr15:45693600-45696000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr15:45693600-45696000	Active TSS	Muscle Satellite Cultured Cells	--
32	chr15:45693600-45696000	Active TSS	Fetal Intestine Small	intestine
33	chr15:45693600-45696000	Active TSS	Fetal Stomach	stomach
34	chr15:45693600-45696200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr15:45693600-45696200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr15:45693600-45696200	Active TSS	NHDF-Ad	bronchial
37	chr15:45693600-45696200	Active TSS	NHLF	lung
38	chr15:45693600-45696400	Active TSS	A549	lung
39	chr15:45693600-45696600	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr15:45693600-45696600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr15:45693600-45696600	Active TSS	Psoas Muscle	Psoas
42	chr15:45693600-45697000	Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr15:45693600-45697200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr15:45693800-45694400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr15:45693800-45694800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr15:45693800-45695000	Active TSS	Stomach Smooth Muscle	stomach
47	chr15:45693800-45695400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr15:45693800-45695600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
49	chr15:45693800-45695600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr15:45693800-45695600	Active TSS	Placenta	Placenta

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