Variant report

Variant	rs8031702
Chromosome Location	chr15:51236304-51236305
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr15:51236253-51236515	GM12878	blood:	n/a	n/a
2	CTCF	chr15:51236220-51236370	HPF	lung:	n/a	n/a
3	CTCF	chr15:51236280-51236430	MCF-7	breast:	n/a	n/a
4	GATA3	chr15:51235825-51236374	SK-N-SH	brain:	n/a	n/a
5	RAD21	chr15:51236163-51236596	HCT-116	colon:	n/a	n/a
6	CTCF	chr15:51236160-51236310	A549	lung:	n/a	n/a
7	RAD21	chr15:51236224-51236630	MCF-7	breast:	n/a	n/a
8	RAD21	chr15:51236221-51236569	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr15:51236298-51236435	MCF-7	breast:	n/a	n/a
10	GATA3	chr15:51235651-51236371	SK-N-SH	brain:	n/a	n/a
11	CTCF	chr15:51236200-51236350	MCF-7	breast:	n/a	n/a
12	CTCF	chr15:51236213-51236618	MCF-7	breast:	n/a	n/a
13	RAD21	chr15:51236304-51236408	H1-hESC	embryonic stem cell:	n/a	n/a
14	RAD21	chr15:51236118-51236709	MCF-7	breast:	n/a	n/a
15	CTCF	chr15:51236220-51236370	HMEC	breast:	n/a	n/a
16	CTCF	chr15:51236300-51236450	HMEC	breast:	n/a	n/a
17	CTCF	chr15:51236271-51236458	MCF-7	breast:	n/a	n/a
18	CTCF	chr15:51236220-51236370	HRE	kidney:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:51236304-51236354	HCT-116	colon:	n/a
2	chr15:51236304-51236354	HEK293	kidney:	embryo
3	chr15:51236304-51236354	GM12892	blood:	n/a
4	chr15:51236304-51236354	Hela-S3	cervix:	n/a
5	chr15:51236304-51236354	T-47D	breast:	n/a
6	chr15:51236304-51236354	AG04449	skin:	fetal
7	chr15:51236304-51236354	GM06990	blood:	n/a
8	chr15:51236304-51236354	HCF	heart:	n/a
9	chr15:51236304-51236354	HAEpiC	amniotic membrane:	n/a
10	chr15:51236304-51236354	K562	blood:	n/a
11	chr15:51236304-51236354	ovcar-3	ovarian:	n/a
12	chr15:51236304-51236354	NT2-D1	testis:	n/a
13	chr15:51236304-51236354	Jurkat	blood:	n/a
14	chr15:51236304-51236354	NB4	blood:	n/a
15	chr15:51236304-51236354	HUVEC	blood vessel:	n/a
16	chr15:51236304-51236354	SK-N-SH	brain:	n/a
17	chr15:51236304-51236354	SKMC	muscle:	n/a
18	chr15:51236304-51236354	HL-60	blood:	n/a
19	chr15:51236304-51236354	A549	lung:	n/a
20	chr15:51236304-51236354	HIPEpiC	eye:	n/a
21	chr15:51236304-51236354	H1-hESC	embryonic stem cell:	embryo
22	chr15:51236304-51236354	IMR90	lung:	fetal
23	chr15:51236304-51236354	HCPEpiC	choroid plexus:	n/a
24	chr15:51236304-51236354	HCM	heart:	n/a
25	chr15:51236304-51236354	SK-N-SH_RA	brain:	n/a
26	chr15:51236304-51236354	MCF-7	breast:	n/a
27	chr15:51236304-51236354	GM19239	blood:	n/a
28	chr15:51236304-51236354	AoSMC	blood vessel:	n/a
29	chr15:51236304-51236354	ECC-1	luminal epithelium:	n/a
30	chr15:51236304-51236354	BE2_C	brain:	n/a
31	chr15:51236304-51236354	HNPCEpiC	eye:	n/a
32	chr15:51236304-51236354	HRPEpiC	eye:	n/a
33	chr15:51236304-51236354	AG04450	lung:	fetal
34	chr15:51236304-51236354	MCF10A-Er-Src	breast:	n/a
35	chr15:51236304-51236354	U87	brain:	n/a
36	chr15:51236304-51236354	PANC-1	pancreas:	n/a
37	chr15:51236304-51236354	SAEC	small airway:	n/a
38	chr15:51236304-51236354	HRCEpiC	kidney:	n/a
39	chr15:51236304-51236354	HRE	kidney:	n/a
40	chr15:51236304-51236354	SK-N-MC	brain:	n/a
41	chr15:51236304-51236354	HepG2	liver:	n/a
42	chr15:51236304-51236354	RPTEC	kidney:	n/a
43	chr15:51236304-51236354	PFSK-1	brain:	n/a
44	chr15:51236304-51236354	HPAEpiC	pulmonary alveolar:	n/a
45	chr15:51236304-51236354	BJ	skin:	n/a
46	chr15:51236304-51236354	AG10803	skin:	n/a
47	chr15:51236304-51236354	PrEC	prostate:	n/a
48	chr15:51236304-51236354	Caco-2	colon:	n/a
49	chr15:51236304-51236354	ProgFib	skin:	n/a
50	chr15:51236304-51236354	CMK	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:51236074..51236844-chr15:51484819..51485462,2	MCF-7	breast:

No data

Variant related genes	Relation type
DCAF13P3	TF binding region
DCAF13P3	CpG island

Extended variants
information (count: 151 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:140)

rs_ID	r²[population]
rs10744956	0.86[CHB][hapmap];0.81[CHD][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs10851494	0.85[CHB][hapmap];0.85[JPT][hapmap]
rs11070824	0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11070829	0.87[ASN][1000 genomes]
rs11070835	0.81[JPT][hapmap]
rs1147128	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1147129	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1147130	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1147131	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1147133	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1147135	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1147136	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1147139	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11632971	0.92[ASN][1000 genomes]
rs11635015	0.91[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.98[ASN][1000 genomes]
rs11635102	0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.96[ASN][1000 genomes]
rs11857810	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs12438343	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12440387	0.95[CHB][hapmap]
rs12441714	0.98[ASN][1000 genomes]
rs12593469	0.82[JPT][hapmap]
rs12595034	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1276854	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12898208	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12898530	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12899459	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1290084	0.85[CHD][hapmap]
rs12902894	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12902899	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12904125	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12904382	0.86[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs12905611	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12906866	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12908516	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12912295	0.96[ASN][1000 genomes]
rs12916407	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1371058	0.87[ASN][1000 genomes]
rs1472946	0.86[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs1509423	0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.98[ASN][1000 genomes]
rs1550336	0.91[CHD][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.82[ASN][1000 genomes]
rs1550340	0.87[ASN][1000 genomes]
rs17703090	0.86[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs1904430	0.81[CHD][hapmap]
rs2118785	0.83[ASN][1000 genomes]
rs2127366	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2127367	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2127368	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2170011	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2249535	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2291107	0.81[CHD][hapmap]
rs2306331	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2306332	0.98[ASN][1000 genomes]
rs2414078	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2414079	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2414080	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2414081	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2614763	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2614765	0.87[CHD][hapmap]
rs2614776	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2614779	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2614780	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2614781	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2614782	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2614784	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2614789	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2614790	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2614791	0.86[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs2614792	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2614793	0.81[CHD][hapmap]
rs2614794	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2619686	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2619687	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2619688	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2619691	0.91[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs2619693	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2619694	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2663533	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2663534	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2663535	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2663537	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2663538	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2663541	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2663542	0.81[CHD][hapmap]
rs2663543	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2663544	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2663545	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2663546	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2663548	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.80[ASN][1000 genomes]
rs2663550	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2663551	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2663553	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2663554	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2663555	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2663556	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28702388	0.85[ASN][1000 genomes]
rs3743045	0.86[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs3784301	0.89[CEU][hapmap];0.86[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];0.98[TSI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3784302	0.81[CHD][hapmap];0.90[JPT][hapmap];0.94[ASN][1000 genomes]
rs3784303	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3784304	0.81[CHD][hapmap]
rs4438254	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4444282	0.92[ASN][1000 genomes]
rs4534781	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4775910	0.86[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs62018857	0.81[ASN][1000 genomes]
rs6493469	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6493471	0.81[ASN][1000 genomes]
rs6493473	0.83[ASN][1000 genomes]
rs6493476	0.91[CHD][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.82[ASN][1000 genomes]
rs714784	0.86[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.88[ASN][1000 genomes]
rs7162209	0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.98[ASN][1000 genomes]
rs7168385	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7168846	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7169888	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7170311	0.96[ASN][1000 genomes]
rs7170365	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7170675	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7171085	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7177267	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7180258	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7181051	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7181201	0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7181593	0.87[CHD][hapmap]
rs7181997	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7182865	0.81[JPT][hapmap]
rs7182957	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7184026	0.89[ASN][1000 genomes]
rs7494977	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8024428	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8026318	0.95[JPT][hapmap];0.85[YRI][hapmap];0.82[ASN][1000 genomes]
rs8029155	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8029369	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8030124	0.84[ASN][1000 genomes]
rs8030214	0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[MKK][hapmap];0.89[YRI][hapmap];0.98[ASN][1000 genomes]
rs8033934	0.87[ASN][1000 genomes]
rs8034236	0.88[ASN][1000 genomes]
rs8034576	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8035358	0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.98[ASN][1000 genomes]
rs8035452	0.82[JPT][hapmap]
rs8041824	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047443	chr15:50744781-51647023	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv457136	chr15:50789125-51294995	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv569398	chr15:50789125-51294995	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv569399	chr15:50874964-51562198	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
5	nsv569400	chr15:50874964-51767265	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers 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	80 gene(s)	inside rSNPs	diseases
6	nsv529339	chr15:51048579-51270372	Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
7	nsv428636	chr15:51154834-51298044	Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
8	nsv569403	chr15:51191421-51304373	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv1038778	chr15:51196641-51356728	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	nsv904214	chr15:51204364-51535192	Strong transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
11	nsv569404	chr15:51234595-51294995	ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8031702	AP4E1	cis	multi-tissue	Pritchard

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:51201600-51243200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:51201600-51245000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:51201800-51242800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr15:51201800-51248400	Weak transcription	Colonic Mucosa	Colon
5	chr15:51201800-51271600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr15:51202600-51236800	Weak transcription	Small Intestine	intestine
7	chr15:51202600-51241800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr15:51202600-51242800	Weak transcription	Gastric	stomach
9	chr15:51202800-51243400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr15:51203200-51242200	Weak transcription	Brain Substantia Nigra	brain
11	chr15:51203200-51242800	Weak transcription	Lung	lung
12	chr15:51203400-51242400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr15:51204800-51243000	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr15:51205600-51242800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr15:51205800-51249000	Weak transcription	Fetal Brain Male	brain
16	chr15:51205800-51254400	Weak transcription	Fetal Heart	heart
17	chr15:51208000-51250400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr15:51208400-51242200	Weak transcription	Fetal Kidney	kidney
19	chr15:51210400-51243000	Weak transcription	Brain Angular Gyrus	brain
20	chr15:51210600-51298400	Weak transcription	Stomach Mucosa	stomach
21	chr15:51213000-51242800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr15:51213200-51245400	Weak transcription	Psoas Muscle	Psoas
23	chr15:51213600-51243400	Weak transcription	Pancreas	Pancrea
24	chr15:51213800-51247600	Weak transcription	Aorta	Aorta
25	chr15:51214600-51236800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr15:51214600-51247800	Weak transcription	Esophagus	oesophagus
27	chr15:51219800-51243000	Weak transcription	Brain Hippocampus Middle	brain
28	chr15:51220000-51242200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr15:51220200-51236800	Weak transcription	Right Ventricle	heart
30	chr15:51220200-51243000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr15:51221800-51242200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr15:51221800-51242400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr15:51221800-51242800	Weak transcription	Brain Anterior Caudate	brain
34	chr15:51222000-51242800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr15:51223400-51243000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr15:51223400-51243000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr15:51225000-51236800	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr15:51225000-51242200	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr15:51225200-51236400	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr15:51225200-51236800	Weak transcription	HMEC	breast
41	chr15:51225200-51237000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr15:51226000-51240600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr15:51226000-51242400	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr15:51228800-51236400	Weak transcription	Primary B cells from cord blood	blood
45	chr15:51230400-51236400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr15:51230400-51236600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr15:51231000-51236400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr15:51231000-51236400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr15:51231000-51236400	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr15:51231000-51236400	Weak transcription	Left Ventricle	heart

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