Variant report

Variant	rs3767038
Chromosome Location	chr1:78225658-78225659
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	GABPA	chr1:78224781-78225774	SK-N-SH	brain:	n/a	chr1:78225296-78225305
2	TAF1	chr1:78225158-78225663	K562	blood:	n/a	n/a
3	ELF1	chr1:78225052-78225721	K562	blood:	n/a	chr1:78225243-78225252
4	POLR2A	chr1:78225113-78225675	HepG2	liver:	n/a	n/a
5	POLR2A	chr1:78224796-78225789	K562	blood:	n/a	n/a
6	ELF1	chr1:78225297-78225660	A549	lung:	n/a	n/a
7	POLR2A	chr1:78224670-78225730	K562	blood:	n/a	n/a
8	POLR2A	chr1:78225138-78225711	ProgFib	skin:	n/a	n/a
9	POLR2A	chr1:78225195-78225796	SK-N-SH	brain:	n/a	n/a
10	ZNF384	chr1:78225166-78225844	K562	blood:	n/a	n/a
11	POLR2A	chr1:78224793-78225888	Raji	blood:	n/a	n/a
12	ETS1	chr1:78225110-78225736	K562	blood:	n/a	chr1:78225572-78225583 chr1:78225567-78225580
13	POLR2A	chr1:78224842-78225680	GM12878	blood:	n/a	n/a
14	MYC	chr1:78224745-78225834	NB4	blood:	n/a	chr1:78225186-78225196
15	ZKSCAN1	chr1:78225333-78225681	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr1:78224812-78225839	GM12878	blood:	n/a	n/a
17	TFAP2A	chr1:78224780-78225880	Hela-S3	cervix:	n/a	chr1:78225469-78225480 chr1:78225598-78225610 chr1:78225469-78225481 chr1:78225543-78225553 chr1:78225469-78225480 chr1:78225469-78225481 chr1:78225541-78225553 chr1:78225469-78225481 chr1:78225598-78225610 chr1:78225469-78225480
18	HCFC1	chr1:78224421-78225750	K562	blood:	n/a	n/a
19	ZNF143	chr1:78224970-78225706	H1-hESC	embryonic stem cell:	n/a	chr1:78225089-78225108
20	ELF1	chr1:78225020-78225674	K562	blood:	n/a	chr1:78225243-78225252
21	EGR1	chr1:78225253-78225739	H1-hESC	embryonic stem cell:	n/a	chr1:78225569-78225582 chr1:78225572-78225582
22	ZEB1	chr1:78225341-78225704	GM12878	blood:	n/a	chr1:78225627-78225638
23	TAF1	chr1:78225257-78225672	SK-N-SH	brain:	n/a	n/a
24	BCLAF1	chr1:78225205-78225683	K562	blood:	n/a	chr1:78225340-78225353 chr1:78225458-78225471 chr1:78225627-78225640 chr1:78225575-78225584 chr1:78225540-78225553
25	IRF1	chr1:78224583-78225813	K562	blood:	n/a	chr1:78224908-78224920 chr1:78224908-78224922 chr1:78225573-78225587 chr1:78224908-78224920 chr1:78225719-78225731 chr1:78225603-78225617 chr1:78224905-78224919 chr1:78224909-78224930 chr1:78224908-78224925 chr1:78224908-78224921 chr1:78224909-78224920 chr1:78224907-78224921 chr1:78224910-78224921 chr1:78224911-78224921 chr1:78224909-78224923 chr1:78224907-78224927 chr1:78224908-78224922
26	NRF1	chr1:78225393-78225738	GM12878	blood:	n/a	n/a
27	TAF1	chr1:78225282-78225677	H1-hESC	embryonic stem cell:	n/a	n/a
28	ELF1	chr1:78224656-78225760	GM12878	blood:	n/a	chr1:78225243-78225252
29	GABPA	chr1:78224991-78225905	MCF-7	breast:	n/a	chr1:78225296-78225305
30	POLR2A	chr1:78224723-78225725	GM12878	blood:	n/a	n/a
31	GABPA	chr1:78225250-78225744	K562	blood:	n/a	chr1:78225296-78225305
32	GABPA	chr1:78225223-78225742	A549	lung:	n/a	chr1:78225296-78225305
33	POLR2A	chr1:78224879-78225875	HepG2	liver:	n/a	n/a
34	PML	chr1:78225244-78225736	MCF-7	breast:	n/a	n/a
35	ELF1	chr1:78224791-78225759	GM12878	blood:	n/a	chr1:78225243-78225252
36	ELF1	chr1:78225067-78225863	HCT-116	colon:	n/a	chr1:78225243-78225252
37	GATA1	chr1:78224926-78225735	PBDE	blood:	n/a	chr1:78225559-78225568 chr1:78225131-78225148 chr1:78225399-78225409
38	RELA	chr1:78224627-78225898	GM15510	blood:	n/a	n/a
39	HEY1	chr1:78224770-78225863	HepG2	liver:	n/a	chr1:78224929-78224944 chr1:78225456-78225471
40	CTCF	chr1:78225560-78225710	GM12865	blood:	n/a	n/a
41	GABPA	chr1:78225167-78225750	HL-60	blood:	n/a	chr1:78225296-78225305
42	IRF1	chr1:78225323-78225805	K562	blood:	n/a	chr1:78225573-78225587 chr1:78225719-78225731 chr1:78225603-78225617
43	POLR2A	chr1:78224818-78225859	K562	blood:	n/a	n/a
44	TAF1	chr1:78225185-78225683	K562	blood:	n/a	n/a
45	POLR2A	chr1:78225115-78225708	Gliobla	brain:	n/a	n/a
46	ZNF143	chr1:78224884-78225723	GM12878	blood:	n/a	chr1:78225089-78225108
47	POLR2A	chr1:78225188-78225760	ECC-1	luminal epithelium:	n/a	n/a
48	MAZ	chr1:78224874-78225796	HepG2	liver:	n/a	chr1:78225186-78225196
49	MXI1	chr1:78224245-78226354	SK-N-SH	brain:	n/a	n/a
50	ZBTB7A	chr1:78224676-78225682	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:78225636-78225686	PFSK-1	brain:	n/a
2	chr1:78225636-78225686	RPTEC	kidney:	n/a
3	chr1:78225636-78225686	T-47D	breast:	n/a
4	chr1:78225636-78225686	A549	lung:	n/a
5	chr1:78225636-78225686	K562	blood:	n/a
6	chr1:78225636-78225686	AG09319	gingival:	n/a
7	chr1:78225636-78225686	HMEC	breast:	n/a
8	chr1:78225636-78225686	U87	brain:	n/a
9	chr1:78225636-78225686	AG10803	skin:	n/a
10	chr1:78225636-78225686	HAEpiC	amniotic membrane:	n/a
11	chr1:78225636-78225686	HepG2	liver:	n/a
12	chr1:78225636-78225686	SK-N-MC	brain:	n/a
13	chr1:78225636-78225686	AG09309	skin:	n/a
14	chr1:78225636-78225686	GM19239	blood:	n/a
15	chr1:78225636-78225686	HUVEC	blood vessel:	n/a
16	chr1:78225636-78225686	ECC-1	luminal epithelium:	n/a
17	chr1:78225636-78225686	HRCEpiC	kidney:	n/a
18	chr1:78225636-78225686	CMK	blood:	n/a
19	chr1:78225636-78225686	ovcar-3	ovarian:	n/a
20	chr1:78225636-78225686	HCM	heart:	n/a
21	chr1:78225636-78225686	GM12892	blood:	n/a
22	chr1:78225636-78225686	NH-A	brain:	n/a
23	chr1:78225636-78225686	HEEpiC	esophagus:	n/a
24	chr1:78225636-78225686	NT2-D1	testis:	n/a
25	chr1:78225636-78225686	HCF	heart:	n/a
26	chr1:78225636-78225686	SK-N-SH	brain:	n/a
27	chr1:78225636-78225686	LNCaP	prostate:	n/a
28	chr1:78225636-78225686	SKMC	muscle:	n/a
29	chr1:78225636-78225686	HNPCEpiC	eye:	n/a
30	chr1:78225636-78225686	MCF10A-Er-Src	breast:	n/a
31	chr1:78225636-78225686	HIPEpiC	eye:	n/a
32	chr1:78225636-78225686	SAEC	small airway:	n/a
33	chr1:78225636-78225686	NB4	blood:	n/a
34	chr1:78225636-78225686	Hela-S3	cervix:	n/a
35	chr1:78225636-78225686	MCF-7	breast:	n/a
36	chr1:78225636-78225686	HL-60	blood:	n/a
37	chr1:78225636-78225686	PANC-1	pancreas:	n/a
38	chr1:78225636-78225686	NHBE	bronchial:	n/a
39	chr1:78225636-78225686	PrEC	prostate:	n/a
40	chr1:78225636-78225686	HCPEpiC	choroid plexus:	n/a
41	chr1:78225636-78225686	Jurkat	blood:	n/a
42	chr1:78225636-78225686	HPAEpiC	pulmonary alveolar:	n/a
43	chr1:78225636-78225686	ProgFib	skin:	n/a
44	chr1:78225636-78225686	IMR90	lung:	fetal
45	chr1:78225636-78225686	NHDF-neo	bronchial:	n/a
46	chr1:78225636-78225686	HCT-116	colon:	n/a
47	chr1:78225636-78225686	HEK293	kidney:	embryo
48	chr1:78225636-78225686	Caco-2	colon:	n/a
49	chr1:78225636-78225686	SK-N-SH_RA	brain:	n/a
50	chr1:78225636-78225686	HRE	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:78222274..78226935-chr1:78467368..78471641,7	K562	blood:
2	chr1:78148427..78149934-chr1:78225071..78226666,2	K562	blood:
3	chr1:78225023..78225750-chr1:146714356..146714894,2	Hela-S3	cervix:
4	chr1:78223538..78227787-chr1:78468626..78471641,9	K562	blood:
5	chr1:78222787..78225678-chr1:78243953..78246833,2	K562	blood:
6	chr1:78220698..78225963-chr1:78243953..78247369,5	K562	blood:

Variant related genes	Relation type
USP33	TF binding region
USP33	CpG island
ENSG00000273338	Chromatin interaction
ENSG00000180488	Chromatin interaction
ENSG00000036549	Chromatin interaction
ENSG00000162616	Chromatin interaction
ENSG00000131778	Chromatin interaction
ENSG00000222849	Chromatin interaction
ENSG00000131781	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs1038983	0.80[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap]
rs10873951	0.85[CEU][hapmap];0.86[TSI][hapmap]
rs10873953	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10873954	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10873955	0.80[CEU][hapmap];0.90[CHB][hapmap];0.89[CHD][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs11162368	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11162370	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11162374	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11162378	0.93[ASW][hapmap];0.95[CEU][hapmap];0.81[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.83[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11162380	0.95[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11162383	0.82[ASN][1000 genomes]
rs11162384	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11162386	0.80[CEU][hapmap];0.90[CHB][hapmap];0.88[CHD][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs11162387	0.95[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs11578805	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1166586	0.90[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs1166589	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12090729	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12132838	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12135104	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12142441	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12717768	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1389789	0.93[ASW][hapmap];0.95[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.95[YRI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1389790	0.93[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.95[YRI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1539739	0.95[CEU][hapmap];0.90[CHB][hapmap];0.88[CHD][hapmap];0.85[GIH][hapmap];0.90[JPT][hapmap];0.95[LWK][hapmap];0.98[MKK][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs166770	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2031342	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs203229	0.93[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];0.90[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2088058	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs2147318	0.81[GIH][hapmap]
rs2296227	0.93[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs278832	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs278833	0.84[ASN][1000 genomes]
rs278834	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs278837	0.93[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];0.95[YRI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs278840	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs278841	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs278842	0.93[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.95[YRI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs278843	0.84[ASN][1000 genomes]
rs278844	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs278848	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs278850	0.93[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];0.95[YRI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs278851	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs278855	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs278856	0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs278857	0.82[ASN][1000 genomes]
rs278858	0.80[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.82[ASN][1000 genomes]
rs278859	0.80[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs278860	0.97[CHD][hapmap];0.89[GIH][hapmap];0.85[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.95[YRI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs278863	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs278864	0.95[CHB][hapmap];0.98[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs370335	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs3767037	0.87[ASW][hapmap];1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.89[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.98[TSI][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4488068	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4949814	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs4949817	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4949818	0.93[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];0.95[YRI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4949822	0.84[ASN][1000 genomes]
rs56688304	0.99[ASN][1000 genomes]
rs574973	0.93[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.95[YRI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6603956	0.80[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap]
rs6603958	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6603960	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6657290	0.80[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap]
rs6661656	0.93[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.95[YRI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6672200	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6687501	0.93[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6687596	0.99[ASN][1000 genomes]
rs6699205	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6699311	0.93[ASW][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.90[YRI][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs717333	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7519946	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7535781	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];0.95[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7536206	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7543037	1.00[CEU][hapmap];0.90[CHB][hapmap];0.89[CHD][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7543125	0.84[ASN][1000 genomes]
rs7546365	0.81[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.94[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];0.95[YRI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7552291	0.80[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.85[TSI][hapmap]
rs7556227	0.84[ASN][1000 genomes]
rs7556523	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8179272	1.00[CEU][hapmap];0.90[CHB][hapmap];0.86[CHD][hapmap];0.87[GIH][hapmap];0.90[JPT][hapmap];0.95[LWK][hapmap];0.88[MEX][hapmap];0.98[MKK][hapmap];0.98[TSI][hapmap];0.83[YRI][hapmap];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs872342	1.00[CEU][hapmap];0.80[GIH][hapmap];0.85[JPT][hapmap];0.81[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9662527	0.84[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.89[ASN][1000 genomes]
rs9988619	0.83[AMR][1000 genomes];0.91[EUR][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	nsv470719	chr1:77774413-78269207	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv546591	chr1:77774413-78269207	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv830303	chr1:78090824-78308765	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	esv1794082	chr1:78102426-78492221	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
5	esv1796958	chr1:78138955-78267421	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	esv1798160	chr1:78149941-78267421	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	esv3434340	chr1:78153780-78607103	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
8	nsv508326	chr1:78184379-78234247	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1004327	chr1:78212804-78352385	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	nsv1006600	chr1:78222312-78384009	Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	nsv535011	chr1:78222312-78384009	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs3767038	USP33	Cis_1M	lymphoblastoid	RTeQTL
rs3767038	DNAJB4	cis	parietal	SCAN
rs3767038	AK5	cis	parietal	SCAN
rs3767038	PIGK	cis	parietal	SCAN

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78223200-78226000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:78223400-78225800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:78223400-78225800	Active TSS	Right Atrium	heart
4	chr1:78223400-78225800	Active TSS	NHLF	lung
5	chr1:78223400-78226000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:78223400-78226000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:78223400-78226000	Active TSS	NHDF-Ad	bronchial
8	chr1:78223600-78225800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:78223600-78225800	Active TSS	Adipose Nuclei	Adipose
10	chr1:78223600-78225800	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr1:78223800-78225800	Active TSS	Brain Angular Gyrus	brain
12	chr1:78223800-78225800	Active TSS	Fetal Lung	lung
13	chr1:78223800-78225800	Active TSS	A549	lung
14	chr1:78224000-78225800	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr1:78224000-78225800	Active TSS	Brain Anterior Caudate	brain
16	chr1:78224000-78225800	Active TSS	Colonic Mucosa	Colon
17	chr1:78224000-78225800	Active TSS	Fetal Intestine Large	intestine
18	chr1:78224000-78225800	Active TSS	Fetal Intestine Small	intestine
19	chr1:78224000-78225800	Active TSS	HSMM	muscle
20	chr1:78224000-78226000	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr1:78224000-78226000	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr1:78224000-78226000	Active TSS	Stomach Smooth Muscle	stomach
23	chr1:78224000-78226000	Active TSS	HSMMtube	muscle
24	chr1:78224200-78225800	Active TSS	H1 Cell Line	embryonic stem cell
25	chr1:78224200-78225800	Active TSS	H9 Cell Line	embryonic stem cell
26	chr1:78224200-78225800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:78224200-78225800	Active TSS	HUES64 Cell Line	embryonic stem cell
28	chr1:78224200-78225800	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr1:78224200-78225800	Active TSS	Muscle Satellite Cultured Cells	--
30	chr1:78224200-78225800	Active TSS	Esophagus	oesophagus
31	chr1:78224200-78225800	Active TSS	Fetal Brain Female	brain
32	chr1:78224200-78225800	Active TSS	Fetal Stomach	stomach
33	chr1:78224200-78225800	Active TSS	Psoas Muscle	Psoas
34	chr1:78224200-78225800	Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr1:78224200-78226000	Active TSS	Brain Hippocampus Middle	brain
36	chr1:78224200-78226000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:78224200-78226000	Active TSS	Fetal Brain Male	brain
38	chr1:78224200-78226000	Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr1:78224400-78225800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr1:78224400-78225800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:78224400-78225800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
42	chr1:78224400-78225800	Active TSS	Aorta	Aorta
43	chr1:78224400-78225800	Active TSS	Liver	Liver
44	chr1:78224400-78225800	Active TSS	Fetal Muscle Trunk	muscle
45	chr1:78224400-78225800	Active TSS	Left Ventricle	heart
46	chr1:78224400-78225800	Active TSS	Ovary	ovary
47	chr1:78224400-78225800	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr1:78224400-78225800	Active TSS	Rectal Mucosa Donor 31	rectum
49	chr1:78224400-78225800	Active TSS	Right Ventricle	heart
50	chr1:78224400-78226000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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