Variant report

Variant	rs7406982
Chromosome Location	chr17:17942613-17942614
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	ELF1	chr17:17942083-17942921	GM12878	blood:	n/a	chr17:17942654-17942663
2	RCOR1	chr17:17942293-17942842	Hela-S3	cervix:	n/a	n/a
3	USF1	chr17:17942227-17943114	SK-N-SH	brain:	n/a	n/a
4	GABPA	chr17:17942411-17942838	K562	blood:	n/a	chr17:17942560-17942569
5	MXI1	chr17:17942238-17943210	Hela-S3	cervix:	n/a	n/a
6	BACH1	chr17:17942362-17943395	H1-hESC	embryonic stem cell:	n/a	n/a
7	NFYA	chr17:17942496-17942912	GM12878	blood:	n/a	chr17:17942697-17942712 chr17:17942696-17942708 chr17:17942697-17942712 chr17:17942697-17942711
8	CCNT2	chr17:17942257-17943338	K562	blood:	n/a	chr17:17942560-17942569
9	ATF3	chr17:17942393-17942799	HepG2	liver:	n/a	chr17:17942560-17942569
10	SP1	chr17:17942201-17942860	H1-hESC	embryonic stem cell:	n/a	chr17:17942676-17942688 chr17:17942559-17942569 chr17:17942559-17942568 chr17:17942559-17942573 chr17:17942559-17942569 chr17:17942558-17942570 chr17:17942677-17942691 chr17:17942676-17942688 chr17:17942558-17942569 chr17:17942560-17942569 chr17:17942559-17942568 chr17:17942698-17942719 chr17:17942558-17942570 chr17:17942678-17942687
11	CHD2	chr17:17942170-17943215	GM12878	blood:	n/a	chr17:17942639-17942649 chr17:17942558-17942568 chr17:17942674-17942684 chr17:17942553-17942563
12	ETS1	chr17:17942318-17942752	K562	blood:	n/a	chr17:17942560-17942571 chr17:17942592-17942605 chr17:17942593-17942606
13	HA-E2F1	chr17:17942146-17942839	MCF-7	breast:	n/a	chr17:17942699-17942708 chr17:17942675-17942687 chr17:17942560-17942569
14	POU2F2	chr17:17942302-17942860	GM12891	blood:	n/a	chr17:17942560-17942572
15	EP300	chr17:17942389-17942836	SK-N-SH_RA	brain:	n/a	n/a
16	CTCF	chr17:17942380-17942631	Spleen_OC	spleen:	n/a	n/a
17	BRCA1	chr17:17942535-17942751	HepG2	liver:	n/a	n/a
18	PBX3	chr17:17942289-17942752	A549	lung:	n/a	chr17:17942700-17942709
19	POLR2A	chr17:17942014-17943253	HepG2	liver:	n/a	n/a
20	E2F4	chr17:17942433-17942762	GM12878	blood:	n/a	chr17:17942699-17942708 chr17:17942675-17942687 chr17:17942560-17942569
21	MAX	chr17:17942307-17942866	A549	lung:	n/a	chr17:17942627-17942637 chr17:17942627-17942636 chr17:17942628-17942637 chr17:17942561-17942571 chr17:17942625-17942638 chr17:17942627-17942637 chr17:17942629-17942636
22	ATF3	chr17:17942337-17942763	H1-hESC	embryonic stem cell:	n/a	chr17:17942560-17942569
23	ARID3A	chr17:17942594-17942791	K562	blood:	n/a	n/a
24	MAX	chr17:17942255-17943245	H1-hESC	embryonic stem cell:	n/a	chr17:17942627-17942637 chr17:17942627-17942636 chr17:17942628-17942637 chr17:17942561-17942571 chr17:17942625-17942638 chr17:17942627-17942637 chr17:17942629-17942636
25	HCFC1	chr17:17942121-17943088	K562	blood:	n/a	n/a
26	EP300	chr17:17942366-17942789	GM12878	blood:	n/a	n/a
27	MYC	chr17:17942310-17943279	NB4	blood:	n/a	chr17:17942627-17942637 chr17:17942627-17942636 chr17:17942628-17942637 chr17:17942561-17942571 chr17:17942625-17942638 chr17:17942627-17942637 chr17:17942629-17942636
28	ELF1	chr17:17942170-17942941	MCF-7	breast:	n/a	chr17:17942654-17942663
29	NFATC1	chr17:17942320-17942888	GM12878	blood:	n/a	n/a
30	CREB1	chr17:17942105-17943016	HepG2	liver:	n/a	n/a
31	MAX	chr17:17942163-17943310	Hela-S3	cervix:	n/a	chr17:17942627-17942637 chr17:17942627-17942636 chr17:17942628-17942637 chr17:17942561-17942571 chr17:17942625-17942638 chr17:17942627-17942637 chr17:17942629-17942636
32	POLR2A	chr17:17942241-17943105	MCF10A-Er-Src	breast:	n/a	n/a
33	ZBTB33	chr17:17942257-17942775	HCT-116	colon:	n/a	n/a
34	FOXA2	chr17:17942303-17943050	A549	lung:	n/a	n/a
35	YY1	chr17:17942332-17942687	HCT-116	colon:	n/a	chr17:17942560-17942569
36	POLR2A	chr17:17942250-17942897	Hela-S3	cervix:	n/a	n/a
37	NR3C1	chr17:17942182-17942826	A549	lung:	n/a	n/a
38	NRF1	chr17:17942340-17942926	H1-hESC	embryonic stem cell:	n/a	chr17:17942560-17942569
39	NRF1	chr17:17942297-17943114	GM12878	blood:	n/a	chr17:17942560-17942569
40	POLR2A	chr17:17942094-17943380	GM12892	blood:	n/a	n/a
41	HEY1	chr17:17942183-17942822	K562	blood:	n/a	n/a
42	TCF12	chr17:17941774-17943285	A549	lung:	n/a	n/a
43	RCOR1	chr17:17942002-17942806	HepG2	liver:	n/a	n/a
44	USF1	chr17:17942330-17942851	H1-hESC	embryonic stem cell:	n/a	n/a
45	NFIC	chr17:17942272-17942900	HepG2	liver:	n/a	n/a
46	TAF1	chr17:17942132-17943402	HepG2	liver:	n/a	n/a
47	SIX5	chr17:17942291-17942890	GM12878	blood:	n/a	chr17:17942596-17942605 chr17:17942594-17942603
48	POLR2A	chr17:17942212-17942919	Hela-S3	cervix:	n/a	n/a
49	PBX3	chr17:17942216-17942826	A549	lung:	n/a	chr17:17942700-17942709
50	MYC	chr17:17942395-17942785	K562	blood:	n/a	chr17:17942627-17942637 chr17:17942627-17942636 chr17:17942628-17942637 chr17:17942561-17942571 chr17:17942625-17942638 chr17:17942627-17942637 chr17:17942629-17942636

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17941361..17944192-chr17:17991166..17993409,5	K562	blood:
2	chr17:17583924..17586191-chr17:17941715..17944094,3	K562	blood:

Variant related genes	Relation type
ATPAF2	TF binding region
GID4	TF binding region
ENSG00000108557	Chromatin interaction
ENSG00000108591	Chromatin interaction

Extended variants
information (count: 171 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:165)

rs_ID	r²[population]
rs10048206	0.92[JPT][hapmap];0.92[MEX][hapmap]
rs1052299	0.88[MEX][hapmap]
rs1101727	0.80[EUR][1000 genomes]
rs11078400	0.89[LWK][hapmap];0.92[MEX][hapmap];0.89[MKK][hapmap];0.89[YRI][hapmap]
rs11078406	0.88[ASW][hapmap];0.89[LWK][hapmap];0.92[MEX][hapmap];0.86[MKK][hapmap];0.89[YRI][hapmap]
rs11078408	0.88[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.95[TSI][hapmap];0.92[YRI][hapmap];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11650021	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11650649	0.84[MEX][hapmap]
rs11658257	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11869491	0.86[EUR][1000 genomes]
rs11870660	0.90[CEU][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs11871231	0.87[EUR][1000 genomes]
rs12150369	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12600546	0.92[JPT][hapmap]
rs12939020	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12940282	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12941039	0.84[MEX][hapmap]
rs12948749	0.81[EUR][1000 genomes]
rs16960744	0.92[MEX][hapmap]
rs2236513	0.88[YRI][hapmap]
rs2350977	0.92[MEX][hapmap]
rs28537385	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28555361	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2955350	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2955352	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs2955353	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2955354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2955355	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2955356	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2955357	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2955358	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2955359	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2955365	0.81[CEU][hapmap];0.85[GIH][hapmap];0.80[EUR][1000 genomes]
rs2955366	0.80[EUR][1000 genomes]
rs2955368	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2955369	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2955370	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2955371	0.81[CEU][hapmap];0.80[EUR][1000 genomes]
rs2955372	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];0.98[TSI][hapmap];0.89[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2955373	0.82[AMR][1000 genomes]
rs2955377	1.00[ASW][hapmap];0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.88[MEX][hapmap];0.95[MKK][hapmap];0.98[TSI][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2955378	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2955380	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];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2955381	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2955383	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2955384	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2955385	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2974998	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs2974999	0.95[CEU][hapmap];0.85[YRI][hapmap];0.82[EUR][1000 genomes]
rs3183702	0.81[LWK][hapmap];0.88[MEX][hapmap];0.86[MKK][hapmap];0.84[YRI][hapmap]
rs3744115	0.88[MEX][hapmap]
rs3935505	0.82[ASN][1000 genomes]
rs3935506	0.82[ASN][1000 genomes]
rs4072738	0.95[CEU][hapmap];0.87[EUR][1000 genomes]
rs4072739	0.95[CEU][hapmap];0.85[GIH][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs4257260	0.92[JPT][hapmap];0.92[MEX][hapmap]
rs4299203	0.90[CEU][hapmap];0.84[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs4341796	0.84[MEX][hapmap]
rs4365346	0.83[EUR][1000 genomes]
rs4365348	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4368210	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4410135	0.82[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4426402	1.00[ASW][hapmap];0.95[CEU][hapmap];0.91[GIH][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs4459604	1.00[CEU][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4470201	0.92[MEX][hapmap]
rs4471742	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs4506969	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4561528	0.81[EUR][1000 genomes]
rs4584886	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4643387	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4924822	0.92[MEX][hapmap];0.85[MKK][hapmap];0.85[YRI][hapmap]
rs4924823	0.89[LWK][hapmap];0.92[MEX][hapmap];0.85[MKK][hapmap];0.89[YRI][hapmap]
rs4924832	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4925119	0.88[MEX][hapmap];0.82[MKK][hapmap];0.85[YRI][hapmap]
rs4925120	0.92[MEX][hapmap]
rs4925123	0.84[MEX][hapmap]
rs4925125	0.88[ASW][hapmap];0.92[MEX][hapmap];0.88[YRI][hapmap]
rs4925126	0.88[ASW][hapmap];0.89[LWK][hapmap];0.92[MEX][hapmap];0.81[MKK][hapmap];0.89[YRI][hapmap]
rs4925129	0.84[MEX][hapmap]
rs4925130	0.88[MEX][hapmap]
rs4925133	0.83[MEX][hapmap];0.91[TSI][hapmap]
rs4925135	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4925136	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs5002487	0.84[MEX][hapmap]
rs59518074	0.84[EUR][1000 genomes]
rs62072048	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62072050	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62073573	0.84[EUR][1000 genomes]
rs6502622	0.92[MEX][hapmap]
rs6502624	0.92[MEX][hapmap]
rs6502627	0.92[JPT][hapmap]
rs6502631	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6502632	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6502633	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6502634	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6502636	1.00[CEU][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs6502637	0.83[EUR][1000 genomes]
rs6826	0.81[EUR][1000 genomes]
rs712267	0.80[EUR][1000 genomes]
rs7207461	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7207821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7209003	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7210400	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7211714	0.89[ASW][hapmap];0.95[CEU][hapmap];0.91[GIH][hapmap];0.82[EUR][1000 genomes]
rs7212167	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7212447	0.89[ASW][hapmap];0.95[CEU][hapmap];0.91[GIH][hapmap];0.81[YRI][hapmap];0.83[EUR][1000 genomes]
rs7213225	0.92[JPT][hapmap];0.92[MEX][hapmap]
rs7214002	0.92[JPT][hapmap];0.92[YRI][hapmap]
rs7215524	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs721669	0.94[CEU][hapmap];0.81[EUR][1000 genomes]
rs7219320	0.82[CEU][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs7219324	0.95[CEU][hapmap];0.88[GIH][hapmap];0.80[MEX][hapmap];0.98[TSI][hapmap];0.89[EUR][1000 genomes]
rs7222480	0.84[MEX][hapmap]
rs7223696	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7224047	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7406744	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs741782	0.80[EUR][1000 genomes]
rs7501812	0.80[MEX][hapmap]
rs7503334	0.84[MEX][hapmap]
rs7503738	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8065416	0.92[JPT][hapmap];0.92[MEX][hapmap]
rs8065563	0.84[MEX][hapmap]
rs8066764	0.82[EUR][1000 genomes]
rs8066982	0.92[JPT][hapmap];0.92[MEX][hapmap]
rs8068175	0.90[CEU][hapmap];0.84[GIH][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap]
rs8069811	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8070128	0.84[MEX][hapmap]
rs8070731	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8070748	0.92[JPT][hapmap];0.92[MEX][hapmap]
rs8071238	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8073001	0.92[MEX][hapmap]
rs8075189	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8078105	0.92[MEX][hapmap]
rs8078138	0.84[MEX][hapmap]
rs8079321	0.89[LWK][hapmap];0.92[MEX][hapmap];0.84[MKK][hapmap];0.89[YRI][hapmap]
rs8080061	0.92[MEX][hapmap]
rs8080334	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8080602	1.00[CEU][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8080823	0.84[MEX][hapmap]
rs8082590	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs854763	0.95[CEU][hapmap];0.84[YRI][hapmap];0.82[EUR][1000 genomes]
rs854767	0.95[CEU][hapmap];0.88[GIH][hapmap];0.80[EUR][1000 genomes]
rs854768	0.80[EUR][1000 genomes]
rs854769	0.95[CEU][hapmap];0.82[GIH][hapmap];0.80[EUR][1000 genomes]
rs854770	0.80[EUR][1000 genomes]
rs854790	0.95[CEU][hapmap];0.83[GIH][hapmap]
rs854791	0.95[CEU][hapmap];0.85[GIH][hapmap];0.81[EUR][1000 genomes]
rs854808	0.80[EUR][1000 genomes]
rs854809	0.95[CEU][hapmap];0.88[GIH][hapmap];0.80[EUR][1000 genomes]
rs854814	0.95[CEU][hapmap];0.88[GIH][hapmap];0.81[EUR][1000 genomes]
rs854817	0.95[CEU][hapmap];0.85[GIH][hapmap];0.80[EUR][1000 genomes]
rs9303144	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs950966	0.84[MEX][hapmap]
rs9894138	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9896837	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.96[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9897761	1.00[CEU][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9899355	0.95[CEU][hapmap];0.85[GIH][hapmap];0.80[MEX][hapmap];0.98[TSI][hapmap];0.87[EUR][1000 genomes]
rs9907246	0.84[MEX][hapmap]
rs9907287	0.89[LWK][hapmap];0.92[MEX][hapmap];0.84[MKK][hapmap];0.89[YRI][hapmap]
rs9911850	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9912096	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9912895	0.92[MEX][hapmap]
rs9913277	1.00[CEU][hapmap];1.00[GIH][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9914127	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9915248	0.84[MEX][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	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv907766	chr17:17682484-17957348	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
5	nsv482879	chr17:17802463-17989273	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS 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	13 gene(s)	inside rSNPs	diseases
6	nsv510701	chr17:17850474-17955485	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7406982	TOM1L2	cis	cerebellum	SCAN
rs7406982	TOM1L2	cis	parietal	SCAN
rs7406982	SREBF1	cis	Whole Blood	GTEx
rs7406982	C17orf39	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17941200-17944000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr17:17941200-17944200	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr17:17941400-17943600	Active TSS	H1 Cell Line	embryonic stem cell
4	chr17:17941400-17943600	Active TSS	Fetal Intestine Large	intestine
5	chr17:17941400-17943800	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr17:17941400-17944000	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr17:17941600-17943800	Active TSS	H9 Cell Line	embryonic stem cell
8	chr17:17941600-17944000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr17:17941600-17944400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr17:17941800-17943200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr17:17941800-17943200	Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr17:17941800-17943200	Active TSS	Brain Germinal Matrix	brain
13	chr17:17941800-17943400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr17:17941800-17943400	Active TSS	Stomach Mucosa	stomach
15	chr17:17941800-17943400	Active TSS	GM12878-XiMat	blood
16	chr17:17941800-17943600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr17:17941800-17943600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr17:17941800-17943600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr17:17941800-17943600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr17:17941800-17943600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr17:17941800-17943600	Active TSS	Esophagus	oesophagus
22	chr17:17941800-17943600	Active TSS	Fetal Intestine Small	intestine
23	chr17:17941800-17943600	Active TSS	Ovary	ovary
24	chr17:17941800-17943600	Active TSS	Placenta Amnion	Placenta Amnion
25	chr17:17941800-17943600	Active TSS	Sigmoid Colon	Sigmoid Colon
26	chr17:17941800-17943600	Active TSS	A549	lung
27	chr17:17941800-17943600	Active TSS	Hela-S3	cervix
28	chr17:17941800-17943600	Bivalent/Poised TSS	HepG2	liver
29	chr17:17941800-17943600	Active TSS	HSMMtube	muscle
30	chr17:17941800-17943800	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr17:17941800-17943800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr17:17941800-17943800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr17:17941800-17943800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr17:17941800-17943800	Active TSS	Fetal Kidney	kidney
35	chr17:17941800-17943800	Active TSS	Psoas Muscle	Psoas
36	chr17:17941800-17943800	Active TSS	NHDF-Ad	bronchial
37	chr17:17941800-17944200	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr17:17942000-17943200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr17:17942000-17943200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
40	chr17:17942000-17943200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
41	chr17:17942000-17943200	Active TSS	Monocytes-CD14+_RO01746	blood
42	chr17:17942000-17943400	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr17:17942000-17943400	Active TSS	Primary B cells from peripheral blood	blood
44	chr17:17942000-17943400	Active TSS	Primary T cells from cord blood	blood
45	chr17:17942000-17943400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr17:17942000-17943400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr17:17942000-17943400	Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr17:17942000-17943400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr17:17942000-17943400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr17:17942000-17943400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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