Variant report

Variant	rs7164602
Chromosome Location	chr15:45671325-45671326
allele	A/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	POLR2A	chr15:45669585-45671424	GM12892	blood:	n/a	n/a
2	POLR2A	chr15:45670063-45671360	GM12891	blood:	n/a	n/a
3	POLR2A	chr15:45670236-45671387	GM12891	blood:	n/a	n/a
4	POLR2A	chr15:45670164-45671378	GM12892	blood:	n/a	n/a
5	POLR2A	chr15:45668632-45671831	GM12891	blood:	n/a	n/a
6	POLR2A	chr15:45669657-45671407	GM12878	blood:	n/a	n/a
7	EBF1	chr15:45670965-45671436	GM12878	blood:	n/a	chr15:45671242-45671251 chr15:45671240-45671253
8	POU2F2	chr15:45670466-45671329	GM12878	blood:	n/a	chr15:45671073-45671086 chr15:45671037-45671059 chr15:45671076-45671090 chr15:45671074-45671092 chr15:45671037-45671058 chr15:45671073-45671086 chr15:45671073-45671086 chr15:45671079-45671088
9	POLR2A	chr15:45670409-45671389	GM12891	blood:	n/a	n/a
10	EP300	chr15:45670956-45671345	GM12878	blood:	n/a	n/a
11	POLR2A	chr15:45669723-45671394	GM12891	blood:	n/a	n/a
12	POLR2A	chr15:45669574-45671477	GM12878	blood:	n/a	n/a
13	REST	chr15:45670018-45671508	H1-neurons	neurons:	n/a	n/a
14	POLR2A	chr15:45669691-45671338	GM12892	blood:	n/a	n/a
15	ELK1	chr15:45670574-45671377	GM12878	blood:	n/a	n/a
16	EBF1	chr15:45671054-45671382	GM12878	blood:	n/a	chr15:45671242-45671251 chr15:45671240-45671253
17	POU2F2	chr15:45670233-45671467	GM12878	blood:	n/a	chr15:45671073-45671086 chr15:45671037-45671059 chr15:45671076-45671090 chr15:45671074-45671092 chr15:45671037-45671058 chr15:45671073-45671086 chr15:45671073-45671086 chr15:45671079-45671088
18	MXI1	chr15:45670155-45671409	GM12878	blood:	n/a	n/a
19	POLR2A	chr15:45670016-45671381	GM19099	blood:	n/a	n/a
20	CUX1	chr15:45670910-45671364	GM12878	blood:	n/a	n/a
21	REST	chr15:45671127-45671363	H1-hESC	embryonic stem cell:	n/a	n/a
22	RUNX3	chr15:45670119-45671359	GM12878	blood:	n/a	n/a
23	MAX	chr15:45670370-45671355	H1-hESC	embryonic stem cell:	n/a	n/a
24	MAX	chr15:45669878-45671381	GM12878	blood:	n/a	n/a
25	POLR2A	chr15:45669780-45671374	GM19193	blood:	n/a	n/a
26	PML	chr15:45670276-45671351	GM12878	blood:	n/a	n/a
27	POLR2A	chr15:45669659-45671404	GM12892	blood:	n/a	n/a
28	POU2F2	chr15:45670459-45671411	GM12891	blood:	n/a	chr15:45671073-45671086 chr15:45671037-45671059 chr15:45671076-45671090 chr15:45671074-45671092 chr15:45671037-45671058 chr15:45671073-45671086 chr15:45671073-45671086 chr15:45671079-45671088
29	RUNX3	chr15:45670215-45671345	GM12878	blood:	n/a	n/a
30	EP300	chr15:45670838-45671404	GM12878	blood:	n/a	n/a
31	POU2F2	chr15:45670065-45671385	GM12891	blood:	n/a	chr15:45671073-45671086 chr15:45671037-45671059 chr15:45671076-45671090 chr15:45671074-45671092 chr15:45671037-45671058 chr15:45671073-45671086 chr15:45671073-45671086 chr15:45671079-45671088
32	WRNIP1	chr15:45670325-45671334	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:45671279-45671329	HRCEpiC	kidney:	n/a
2	chr15:45671279-45671329	HCM	heart:	n/a
3	chr15:45671279-45671329	HAEpiC	amniotic membrane:	n/a
4	chr15:45671279-45671329	NH-A	brain:	n/a
5	chr15:45671279-45671329	HepG2	liver:	n/a
6	chr15:45671279-45671329	GM12891	blood:	n/a
7	chr15:45671279-45671329	SKMC	muscle:	n/a
8	chr15:45671279-45671329	BJ	skin:	n/a
9	chr15:45671279-45671329	CMK	blood:	n/a
10	chr15:45671279-45671329	NT2-D1	testis:	n/a
11	chr15:45671279-45671329	BE2_C	brain:	n/a
12	chr15:45671279-45671329	HRE	kidney:	n/a
13	chr15:45671279-45671329	NHDF-neo	bronchial:	n/a
14	chr15:45671279-45671329	Hela-S3	cervix:	n/a
15	chr15:45671279-45671329	Hepatocyte	liver:	n/a
16	chr15:45671279-45671329	AG09309	skin:	n/a
17	chr15:45671279-45671329	GM19239	blood:	n/a
18	chr15:45671279-45671329	GM12892	blood:	n/a
19	chr15:45671279-45671329	AG04450	lung:	fetal
20	chr15:45671279-45671329	PFSK-1	brain:	n/a
21	chr15:45671279-45671329	HNPCEpiC	eye:	n/a
22	chr15:45671279-45671329	PrEC	prostate:	n/a
23	chr15:45671279-45671329	SK-N-SH	brain:	n/a
24	chr15:45671279-45671329	AG04449	skin:	fetal
25	chr15:45671279-45671329	SAEC	small airway:	n/a
26	chr15:45671279-45671329	HEK293	kidney:	embryo
27	chr15:45671279-45671329	Caco-2	colon:	n/a
28	chr15:45671279-45671329	LNCaP	prostate:	n/a
29	chr15:45671279-45671329	HMEC	breast:	n/a
30	chr15:45671279-45671329	NB4	blood:	n/a
31	chr15:45671279-45671329	NHBE	bronchial:	n/a
32	chr15:45671279-45671329	RPTEC	kidney:	n/a
33	chr15:45671279-45671329	HPAEpiC	pulmonary alveolar:	n/a
34	chr15:45671279-45671329	AG10803	skin:	n/a
35	chr15:45671279-45671329	PANC-1	pancreas:	n/a
36	chr15:45671279-45671329	HIPEpiC	eye:	n/a
37	chr15:45671279-45671329	T-47D	breast:	n/a
38	chr15:45671279-45671329	ECC-1	luminal epithelium:	n/a
39	chr15:45671279-45671329	K562	blood:	n/a
40	chr15:45671279-45671329	IMR90	lung:	fetal
41	chr15:45671279-45671329	MCF-7	breast:	n/a
42	chr15:45671279-45671329	HL-60	blood:	n/a
43	chr15:45671279-45671329	ovcar-3	ovarian:	n/a
44	chr15:45671279-45671329	U87	brain:	n/a
45	chr15:45671279-45671329	GM12878	blood:	n/a
46	chr15:45671279-45671329	HEEpiC	esophagus:	n/a
47	chr15:45671279-45671329	SK-N-SH_RA	brain:	n/a
48	chr15:45671279-45671329	SK-N-MC	brain:	n/a
49	chr15:45671279-45671329	ProgFib	skin:	n/a
50	chr15:45671279-45671329	GM06990	blood:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:45670796..45672296-chr6:86353314..86354922,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SPATA5L1-2	chr15:45670898-45672321	NONHSAT042239

Variant related genes	Relation type
GATM	TF binding region
GATM	CpG island
ENSG00000135316	Chromatin interaction

Extended variants
information (count: 144 )
Associated
traits (count: 23 )

rSNPs within LD-proxies of this variant (count:138)

rs_ID	r²[population]
rs10444821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1049503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1049508	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10519021	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[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];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11070453	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11070454	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11070456	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11070457	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1145074	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1145078	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1145079	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1145081	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1145085	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1145091	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1153847	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1153849	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1153854	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1153858	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11852800	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11858495	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12101539	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12439274	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12439575	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[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];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12441971	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12591058	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12593230	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12593370	0.93[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12593371	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12593402	0.81[CEU][hapmap];0.84[JPT][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12594857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12595087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12595153	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1288775	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12909158	0.93[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12913645	0.93[JPT][hapmap];0.96[MEX][hapmap]
rs1346266	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
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];1.00[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];0.97[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];1.00[MKK][hapmap];0.97[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];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1613559	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1618874	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1648302	0.86[JPT][hapmap]
rs16941017	0.86[JPT][hapmap]
rs16942000	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16942568	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16943246	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1706824	0.93[JPT][hapmap];0.96[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];0.87[TSI][hapmap];0.83[EUR][1000 genomes];0.85[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];1.00[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]
rs1890565	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1974981	0.88[AMR][1000 genomes];0.87[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];0.85[EUR][1000 genomes];0.85[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];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2066090	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2114501	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2172874	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2413769	0.93[JPT][hapmap];0.96[MEX][hapmap]
rs2413775	0.85[JPT][hapmap]
rs2433228	0.86[JPT][hapmap]
rs2433229	0.85[JPT][hapmap]
rs2433611	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2453541	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2461701	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2461702	1.00[CEU][hapmap]
rs2461705	0.83[MEX][hapmap]
rs2467854	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2467858	0.93[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2467864	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2486272	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2668747	0.93[CEU][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28569043	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28605551	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28679834	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[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];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3809472	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]
rs4271549	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4534782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4572329	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4625670	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4627277	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4774550	0.86[JPT][hapmap]
rs4774577	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4774578	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4774579	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4775895	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4775906	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4775907	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4775909	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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];0.94[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4775937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55885762	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56669689	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56806728	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56850226	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59889118	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60476496	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61365925	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61524473	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs66528868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66714503	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66939267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67045941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67461176	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67744121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67831559	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68087211	1.00[ASN][1000 genomes]
rs7163720	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7164139	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7167900	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7168414	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7169587	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7169818	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7171163	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7171577	1.00[CEU][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7179743	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7181167	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7182300	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7182723	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7183946	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72623915	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7402632	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7402650	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7494956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8032904	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8038342	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8042786	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9783731	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9788780	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[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:23)

SNP	Gene	Cis/trans	Tissue	Source
rs7164602	CTD-2651B20.3	cis	Esophagus Muscularis	GTEx
rs7164602	CTD-2651B20.3	cis	Thyroid	GTEx
rs7164602	CTD-2651B20.4	cis	Artery Tibial	GTEx
rs7164602	CTD-2651B20.4	cis	Nerve Tibial	GTEx
rs7164602	SPATA5L1	cis	cerebellum	SCAN
rs7164602	BMF	cis	parietal	SCAN
rs7164602	SPATA5L1	cis	Nerve Tibial	GTEx
rs7164602	SPATA5L1	cis	lymphoblastoid	seeQTL
rs7164602	CTD-2651B20.3	cis	Nerve Tibial	GTEx
rs7164602	SP4	trans	parietal	SCAN
rs7164602	SPATA5L1	cis	lung	GTEx
rs7164602	SHF	cis	parietal	SCAN
rs7164602	GATM	cis	cerebellum	SCAN
rs7164602	SPATA5L1	Cis_1M	lymphoblastoid	RTeQTL
rs7164602	CTD-2651B20.3	cis	Adipose Subcutaneous	GTEx
rs7164602	SPATA5L1	cis	Esophagus Muscularis	GTEx
rs7164602	CTD-2651B20.3	cis	lung	GTEx
rs7164602	SPATA5L1	cis	parietal	SCAN
rs7164602	CTD-2651B20.3	cis	Artery Tibial	GTEx
rs7164602	SPATA5L1	cis	Thyroid	GTEx
rs7164602	GATM	cis	Muscle Skeletal	GTEx
rs7164602	CTD-2651B20.3	cis	Muscle Skeletal	GTEx
rs7164602	SPATA5L1	cis	Whole Blood	GTEx

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45669000-45671600	Active TSS	Brain Angular Gyrus	brain
2	chr15:45669000-45671800	Active TSS	Pancreas	Pancrea
3	chr15:45669200-45671400	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr15:45669400-45671400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr15:45669400-45675200	Weak transcription	HepG2	liver
6	chr15:45669600-45671400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
7	chr15:45669600-45671400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
8	chr15:45669600-45671400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr15:45669600-45671400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr15:45669600-45671400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
11	chr15:45669600-45671400	Active TSS	Aorta	Aorta
12	chr15:45669600-45671400	Active TSS	Brain Germinal Matrix	brain
13	chr15:45669600-45671600	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr15:45669600-45671800	Active TSS	Left Ventricle	heart
15	chr15:45669800-45671400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr15:45669800-45671400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr15:45669800-45671400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr15:45669800-45671400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr15:45669800-45671400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr15:45669800-45671400	Active TSS	Esophagus	oesophagus
21	chr15:45669800-45671400	Active TSS	Psoas Muscle	Psoas
22	chr15:45669800-45671400	Active TSS	Rectal Smooth Muscle	rectum
23	chr15:45669800-45671400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
24	chr15:45670000-45671400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
25	chr15:45670000-45671400	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr15:45670000-45671400	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
27	chr15:45670000-45671400	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
28	chr15:45670000-45671400	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
29	chr15:45670200-45671400	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr15:45670200-45671400	Active TSS	HSMM	muscle
31	chr15:45670200-45671600	Active TSS	GM12878-XiMat	blood
32	chr15:45670400-45671400	Active TSS	Duodenum Mucosa	Duodenum
33	chr15:45670400-45671400	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
34	chr15:45670400-45671400	Active TSS	Right Ventricle	heart
35	chr15:45670400-45671400	Active TSS	Stomach Mucosa	stomach
36	chr15:45670400-45671400	Active TSS	HSMMtube	muscle
37	chr15:45670400-45671400	Bivalent/Poised TSS	NHEK	skin
38	chr15:45670400-45671800	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr15:45670600-45671400	Active TSS	Liver	Liver
40	chr15:45670600-45671400	Bivalent/Poised TSS	Thymus	Thymus
41	chr15:45670600-45671800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
42	chr15:45670800-45671400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
43	chr15:45670800-45671400	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
44	chr15:45670800-45671600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
45	chr15:45670800-45671600	Flanking Active TSS	Stomach Smooth Muscle	stomach
46	chr15:45671000-45671400	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr15:45671000-45671400	Flanking Bivalent TSS/Enh	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr15:45671000-45671400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
49	chr15:45671000-45671400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
50	chr15:45671000-45671400	Flanking Active TSS	Fetal Brain Female	brain

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