Variant report

Variant	rs3816792
Chromosome Location	chr15:44116986-44116987
allele	C/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	POLR2A	chr15:44116464-44117281	PANC-1	pancreas:	n/a	n/a
2	MAX	chr15:44116600-44117445	A549	lung:	n/a	n/a
3	ELF1	chr15:44116631-44117164	MCF-7	breast:	n/a	chr15:44116917-44116928 chr15:44116917-44116928
4	POLR2A	chr15:44116551-44117297	K562	blood:	n/a	n/a
5	TAF1	chr15:44116631-44117112	GM12891	blood:	n/a	n/a
6	TAF1	chr15:44116523-44117211	ECC-1	luminal epithelium:	n/a	n/a
7	CBX3	chr15:44116463-44117336	K562	blood:	n/a	n/a
8	POLR2A	chr15:44116478-44117212	H1-hESC	embryonic stem cell:	n/a	n/a
9	BRCA1	chr15:44116594-44117111	HepG2	liver:	n/a	n/a
10	POLR2A	chr15:44116518-44117185	GM12892	blood:	n/a	n/a
11	MAX	chr15:44116482-44117496	HCT-116	colon:	n/a	n/a
12	POLR2A	chr15:44116416-44117264	Hela-S3	cervix:	n/a	n/a
13	REST	chr15:44116673-44117034	Hela-S3	cervix:	n/a	n/a
14	MYC	chr15:44116926-44117028	MCF-7	breast:	n/a	n/a
15	FOXA1	chr15:44116662-44117221	HepG2	liver:	n/a	n/a
16	BRCA1	chr15:44116667-44117201	Hela-S3	cervix:	n/a	n/a
17	BHLHE40	chr15:44116642-44117129	K562	blood:	n/a	n/a
18	SETDB1	chr15:44116672-44117256	U2OS	brain:	n/a	n/a
19	MBD4	chr15:44116619-44117228	HepG2	liver:	n/a	n/a
20	TBP	chr15:44116501-44117275	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr15:44116763-44117361	K562	blood:	n/a	n/a
22	ZNF263	chr15:44116546-44117208	HEK293-T-REx	kidney:	n/a	n/a
23	REST	chr15:44116582-44117158	K562	blood:	n/a	n/a
24	PML	chr15:44116470-44117389	K562	blood:	n/a	n/a
25	POLR2A	chr15:44116244-44117231	PFSK-1	brain:	n/a	n/a
26	ZBTB33	chr15:44116627-44117052	A549	lung:	n/a	n/a
27	POLR2A	chr15:44116584-44117018	SK-N-SH	brain:	n/a	n/a
28	E2F4	chr15:44116685-44117239	Hela-S3	cervix:	n/a	chr15:44117055-44117063 chr15:44117052-44117069 chr15:44117055-44117063 chr15:44117007-44117016 chr15:44117052-44117069 chr15:44117059-44117066 chr15:44117054-44117065 chr15:44116960-44116977 chr15:44117058-44117067 chr15:44117055-44117062 chr15:44117059-44117066 chr15:44117056-44117067 chr15:44117059-44117066 chr15:44117054-44117064 chr15:44117055-44117066
29	POLR2A	chr15:44115808-44117112	IMR90	lung:	n/a	n/a
30	POLR2A	chr15:44116617-44117124	A549	lung:	n/a	n/a
31	JUND	chr15:44116495-44117395	K562	blood:	n/a	chr15:44117005-44117014
32	HCFC1	chr15:44116539-44117261	K562	blood:	n/a	n/a
33	MAX	chr15:44116479-44117413	ECC-1	luminal epithelium:	n/a	n/a
34	NFIC	chr15:44116574-44117182	GM12878	blood:	n/a	chr15:44117140-44117157 chr15:44117141-44117157
35	FOXM1	chr15:44116469-44117316	GM12878	blood:	n/a	n/a
36	FOXM1	chr15:44116594-44117212	GM12878	blood:	n/a	n/a
37	POLR2A	chr15:44116703-44117149	HUVEC	blood vessel:	n/a	n/a
38	YY1	chr15:44116524-44117078	HepG2	liver:	n/a	n/a
39	MAX	chr15:44116447-44117458	K562	blood:	n/a	n/a
40	YY1	chr15:44116515-44117070	GM12891	blood:	n/a	n/a
41	UBTF	chr15:44116470-44117176	K562	blood:	n/a	n/a
42	TAF1	chr15:44116446-44117268	K562	blood:	n/a	n/a
43	CREB1	chr15:44116391-44117385	GM12878	blood:	n/a	n/a
44	YY1	chr15:44116510-44117113	K562	blood:	n/a	n/a
45	CTCF	chr15:44116937-44117046	Lung_OC	lung:	n/a	n/a
46	MYC	chr15:44116723-44117104	HepG2	liver:	n/a	n/a
47	NFYB	chr15:44116779-44117205	GM12878	blood:	n/a	chr15:44117003-44117018 chr15:44117006-44117016 chr15:44117005-44117020 chr15:44117003-44117018 chr15:44117004-44117018
48	TCF12	chr15:44116473-44117068	GM12878	blood:	n/a	n/a
49	POLR2A	chr15:44116444-44117254	MCF10A-Er-Src	breast:	n/a	n/a
50	CEBPB	chr15:44116544-44117115	Hela-S3	cervix:	n/a	chr15:44117007-44117015

No.	Distal block	Cell Line	Cell type
1	chr15:44089939..44094924-chr15:44115270..44119372,7	MCF-7	breast:
2	chr15:44089858..44095024-chr15:44113933..44120718,10	MCF-7	breast:
3	chr15:44082965..44094882-chr15:44108427..44121402,26	K562	blood:
4	chr15:44082407..44088245-chr15:44114276..44118984,12	MCF-7	breast:
5	chr1:101490876..101491917-chr15:44116447..44117517,3	NB4	blood:
6	chr11:62608624..62609287-chr15:44116431..44117315,2	HCT-116	colon:
7	chr15:44036424..44040091-chr15:44115436..44119319,5	K562	blood:
8	chr15:44068154..44070774-chr15:44115060..44118766,3	K562	blood:
9	chr11:62608447..62609558-chr15:44116453..44117183,3	Hela-S3	cervix:
10	chr15:44116545..44117376-chr6:26216499..26217205,2	NB4	blood:
11	chr15:44036424..44040091-chr15:44116705..44119319,4	K562	blood:
12	chr15:44081892..44088686-chr15:44115665..44120334,7	MCF-7	breast:
13	chr15:44112442..44117510-chr15:44119138..44122295,7	K562	blood:
14	chr15:44067854..44069742-chr15:44115622..44117150,2	MCF-7	breast:

Variant related genes	Relation type
WDR76	TF binding region
ENSG00000117543	Chromatin interaction
ENSG00000092470	Chromatin interaction
ENSG00000140264	Chromatin interaction
ENSG00000167004	Chromatin interaction
ENSG00000233184	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000184716	Chromatin interaction
ENSG00000168274	Chromatin interaction
ENSG00000205771	Chromatin interaction
ENSG00000187990	Chromatin interaction
ENSG00000128886	Chromatin interaction
ENSG00000242028	Chromatin interaction
ENSG00000221792	Chromatin interaction

Extended variants
information (count: 130 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs10163054	0.88[CEU][hapmap];0.90[CHB][hapmap];0.89[CHD][hapmap];0.87[GIH][hapmap];0.84[JPT][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10438303	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.87[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs11070408	0.88[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.87[GIH][hapmap];0.84[JPT][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs11070410	0.95[CHB][hapmap];0.91[CHD][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs11852767	0.88[EUR][1000 genomes]
rs11852840	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11856495	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11856795	0.93[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.86[TSI][hapmap];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12101756	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12440573	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12441127	1.00[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap];0.81[EUR][1000 genomes]
rs12441861	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.87[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12441984	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12442129	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12442297	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[MEX][hapmap];0.81[MKK][hapmap];0.86[TSI][hapmap];0.90[EUR][1000 genomes]
rs12443102	0.88[CEU][hapmap];0.89[CHB][hapmap];0.82[JPT][hapmap]
rs12702	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13329084	0.87[CEU][hapmap];0.85[TSI][hapmap];0.92[EUR][1000 genomes]
rs13380397	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16950562	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.81[EUR][1000 genomes]
rs16963953	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16965120	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16977724	0.86[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.86[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16977798	0.93[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1965794	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1965795	0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2228368	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2277531	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.86[ASN][1000 genomes]
rs2412810	0.81[EUR][1000 genomes]
rs2447193	0.88[CEU][hapmap];0.95[CHB][hapmap];0.84[JPT][hapmap]
rs2447208	0.88[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap]
rs2447211	0.88[CEU][hapmap]
rs2467402	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[CHD][hapmap];0.87[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap]
rs2467426	0.88[CEU][hapmap]
rs2470121	0.88[CEU][hapmap];0.94[CHB][hapmap];0.83[JPT][hapmap]
rs2788	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.87[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28377539	0.86[ASN][1000 genomes]
rs28413704	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28413881	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28476182	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28509275	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28513374	0.93[ASW][hapmap];0.95[CHB][hapmap];1.00[GIH][hapmap];0.86[TSI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28519630	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28524541	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28531819	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28542007	0.81[EUR][1000 genomes]
rs28546844	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28564774	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28578398	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28583806	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28590651	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28595038	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28636829	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28674750	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28678901	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28679673	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28684672	0.93[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28687459	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28696802	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28699233	0.87[CEU][hapmap];0.86[GIH][hapmap];0.90[MEX][hapmap];0.86[TSI][hapmap];0.92[EUR][1000 genomes]
rs28707214	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28718261	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28780699	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28781888	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28823973	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28858500	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28866846	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28891769	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2920781	0.88[CEU][hapmap];0.85[CHB][hapmap];0.88[CHD][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap]
rs2927071	0.95[CHB][hapmap];0.88[CHD][hapmap];0.84[JPT][hapmap]
rs2927072	0.95[CHB][hapmap];0.84[JPT][hapmap];0.84[TSI][hapmap]
rs2955969	0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[ASN][1000 genomes]
rs3736180	0.93[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3742982	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3759790	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3759791	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3784275	0.87[CEU][hapmap];0.86[GIH][hapmap];0.90[MEX][hapmap];0.95[TSI][hapmap];0.98[EUR][1000 genomes]
rs3825783	0.86[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3862142	1.00[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.87[GIH][hapmap];0.89[JPT][hapmap];0.91[TSI][hapmap]
rs4597285	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4997480	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]
rs524908	0.95[CHB][hapmap];0.97[CHD][hapmap];0.83[ASN][1000 genomes]
rs533143	0.95[CHB][hapmap];0.97[CHD][hapmap];0.81[ASN][1000 genomes]
rs56008017	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56909447	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs575082	0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs60883262	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61390361	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62018952	0.93[ASN][1000 genomes]
rs667476	0.90[CHB][hapmap]
rs67541383	0.88[EUR][1000 genomes]
rs68079546	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs688009	0.95[CHB][hapmap];0.89[JPT][hapmap];0.90[ASN][1000 genomes]
rs693919	0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs694461	0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs7167976	0.90[GIH][hapmap];0.86[TSI][hapmap]
rs7168158	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7169322	0.86[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.86[TSI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7169382	0.98[ASN][1000 genomes]
rs7169988	1.00[CEU][hapmap];0.84[CHB][hapmap];0.84[JPT][hapmap];0.87[EUR][1000 genomes]
rs7170167	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7170751	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7171750	1.00[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.81[EUR][1000 genomes]
rs7174208	1.00[CEU][hapmap];0.95[CHB][hapmap];0.89[JPT][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7175032	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.87[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7175129	0.95[CHB][hapmap];0.89[JPT][hapmap]
rs7179388	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7180818	0.88[ASN][1000 genomes]
rs7181039	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs7183809	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8023458	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.87[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap]
rs8023508	0.95[CHB][hapmap];0.97[CHD][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.83[ASN][1000 genomes]
rs8023696	0.81[EUR][1000 genomes]
rs8032649	0.86[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.86[TSI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8033995	1.00[CEU][hapmap]
rs8040839	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8042868	0.88[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.87[GIH][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap]
rs9944216	0.93[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.90[GIH][hapmap];0.93[LWK][hapmap];0.94[MKK][hapmap];0.86[TSI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9989313	0.86[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.86[TSI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[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	esv1846172	chr15:43632138-44116986	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv1846701	chr15:43759774-44116986	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	esv2758379	chr15:43823158-44148641	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
4	esv2760028	chr15:43823158-44148641	Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
5	nsv427960	chr15:43823158-44148641	Flanking Active TSS Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
6	nsv1037786	chr15:43888926-44318587	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
7	nsv542370	chr15:43888926-44318587	Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
8	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer 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	158 gene(s)	inside rSNPs	diseases
9	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
10	nsv1036318	chr15:44053617-44160773	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
11	nsv1050263	chr15:44093927-44204047	Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	n/a

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs3816792	CATSPER2	cis	multi-tissue	Pritchard
rs3816792	LOC440278	cis	multi-tissue	Pritchard
rs3816792	ADAL	cis	Esophagus Muscularis	GTEx
rs3816792	ELL3	cis	multi-tissue	Pritchard
rs3816792	CKMT1A	cis	Esophagus Mucosa	GTEx
rs3816792	ELL3	cis	Lymphoblastoid	GTEx
rs3816792	TGM5	cis	lymphoblastoid	seeQTL
rs3816792	ADAL	cis	multi-tissue	Pritchard
rs3816792	ELL3	cis	lymphoblastoid	seeQTL
rs3816792	SERF2	cis	lymphoblastoid	seeQTL
rs3816792	ADAL	cis	lung	GTEx
rs3816792	ADAL	cis	Artery Tibial	GTEx
rs3816792	ADAL	cis	Nerve Tibial	GTEx
rs3816792	C15orf63	cis	lymphoblastoid	seeQTL
rs3816792	ADAL	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44115000-44117000	Active TSS	K562	blood
2	chr15:44115600-44117200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr15:44115800-44117000	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr15:44115800-44117000	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr15:44115800-44117000	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr15:44115800-44117200	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr15:44115800-44117200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr15:44115800-44117200	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr15:44115800-44117200	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr15:44115800-44117200	Active TSS	Colonic Mucosa	Colon
11	chr15:44115800-44117200	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr15:44115800-44117400	Active TSS	Right Ventricle	heart
13	chr15:44115800-44117400	Active TSS	A549	lung
14	chr15:44116000-44117000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr15:44116000-44117000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr15:44116000-44117000	Active TSS	Fetal Lung	lung
17	chr15:44116000-44117200	Active TSS	H9 Cell Line	embryonic stem cell
18	chr15:44116000-44117200	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr15:44116000-44117200	Active TSS	Aorta	Aorta
20	chr15:44116000-44117200	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr15:44116000-44117200	Active TSS	HSMMtube	muscle
22	chr15:44116200-44117000	Active TSS	H1 Cell Line	embryonic stem cell
23	chr15:44116200-44117000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr15:44116200-44117000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr15:44116200-44117000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr15:44116200-44117000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr15:44116200-44117000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr15:44116200-44117000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr15:44116200-44117000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr15:44116200-44117000	Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr15:44116200-44117000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr15:44116200-44117000	Active TSS	Muscle Satellite Cultured Cells	--
33	chr15:44116200-44117000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr15:44116200-44117000	Active TSS	Adipose Nuclei	Adipose
35	chr15:44116200-44117000	Active TSS	Liver	Liver
36	chr15:44116200-44117000	Active TSS	Brain Anterior Caudate	brain
37	chr15:44116200-44117000	Active TSS	Brain Cingulate Gyrus	brain
38	chr15:44116200-44117000	Active TSS	Colon Smooth Muscle	Colon
39	chr15:44116200-44117000	Active TSS	Esophagus	oesophagus
40	chr15:44116200-44117000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr15:44116200-44117000	Active TSS	Fetal Intestine Small	intestine
42	chr15:44116200-44117000	Active TSS	Fetal Muscle Leg	muscle
43	chr15:44116200-44117000	Active TSS	Placenta	Placenta
44	chr15:44116200-44117000	Active TSS	Lung	lung
45	chr15:44116200-44117000	Active TSS	Pancreas	Pancrea
46	chr15:44116200-44117000	Active TSS	Placenta Amnion	Placenta Amnion
47	chr15:44116200-44117000	Active TSS	Rectal Mucosa Donor 31	rectum
48	chr15:44116200-44117000	Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr15:44116200-44117000	Active TSS	Dnd41	blood
50	chr15:44116200-44117000	Active TSS	GM12878-XiMat	blood

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