Variant report

Variant	rs4687626
Chromosome Location	chr3:52569098-52569099
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:52)
CpG islands
(count:122)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:52 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:52568856-52569204	K562	blood:	n/a	n/a
2	HEY1	chr3:52568857-52569238	K562	blood:	n/a	n/a
3	RCOR1	chr3:52568554-52569258	K562	blood:	n/a	n/a
4	HEY1	chr3:52568638-52569254	HepG2	liver:	n/a	n/a
5	TAF1	chr3:52568729-52569202	HepG2	liver:	n/a	n/a
6	POLR2A	chr3:52568764-52569201	HepG2	liver:	n/a	n/a
7	ZMIZ1	chr3:52568851-52569187	K562	blood:	n/a	n/a
8	MAX	chr3:52567337-52569379	HepG2	liver:	n/a	n/a
9	MXI1	chr3:52566450-52569219	IMR90	lung:	n/a	n/a
10	MBD4	chr3:52568419-52569250	HepG2	liver:	n/a	n/a
11	YY1	chr3:52568869-52569238	HepG2	liver:	n/a	n/a
12	TBP	chr3:52568939-52569181	HepG2	liver:	n/a	n/a
13	POLR2A	chr3:52568789-52569160	HepG2	liver:	n/a	n/a
14	POLR2A	chr3:52568451-52569278	HepG2	liver:	n/a	n/a
15	TBP	chr3:52568745-52569210	K562	blood:	n/a	n/a
16	MYC	chr3:52568494-52569205	K562	blood:	n/a	n/a
17	MYC	chr3:52568818-52569122	HepG2	liver:	n/a	n/a
18	MYC	chr3:52568937-52569105	MCF-7	breast:	n/a	n/a
19	POLR2A	chr3:52568753-52569228	HepG2	liver:	n/a	n/a
20	E2F6	chr3:52567290-52569157	K562	blood:	n/a	n/a
21	POLR2A	chr3:52568767-52569222	HepG2	liver:	n/a	n/a
22	MAX	chr3:52568914-52569195	K562	blood:	n/a	n/a
23	MYBL2	chr3:52568689-52569113	HepG2	liver:	n/a	n/a
24	POLR2A	chr3:52566714-52569188	MCF-7	breast:	n/a	n/a
25	MAX	chr3:52567313-52569354	HepG2	liver:	n/a	n/a
26	MAX	chr3:52567951-52569156	HepG2	liver:	n/a	n/a
27	POLR2A	chr3:52568767-52569246	K562	blood:	n/a	n/a
28	MYC	chr3:52568863-52569299	K562	blood:	n/a	n/a
29	ELF1	chr3:52568855-52569288	HepG2	liver:	n/a	n/a
30	UBTF	chr3:52567888-52569324	K562	blood:	n/a	n/a
31	POLR2A	chr3:52568674-52569222	MCF-7	breast:	n/a	n/a
32	POLR2A	chr3:52568881-52569144	MCF-7	breast:	n/a	n/a
33	ZNF263	chr3:52568872-52571459	HEK293-T-REx	kidney:	n/a	n/a
34	POLR2A	chr3:52560598-52572342	HepG2	liver:	n/a	n/a
35	ELF1	chr3:52568912-52569336	K562	blood:	n/a	n/a
36	YY1	chr3:52568962-52569184	K562	blood:	n/a	n/a
37	MAX	chr3:52568266-52569203	K562	blood:	n/a	n/a
38	CREB1	chr3:52567301-52569320	HepG2	liver:	n/a	n/a
39	POLR2A	chr3:52568840-52569194	HepG2	liver:	n/a	n/a
40	MXI1	chr3:52566005-52569515	SK-N-SH	brain:	n/a	chr3:52566058-52566067
41	MAX	chr3:52568835-52569289	MCF-7	breast:	n/a	n/a
42	ELF1	chr3:52568937-52569254	HepG2	liver:	n/a	n/a
43	MAZ	chr3:52568909-52569221	K562	blood:	n/a	n/a
44	UBTF	chr3:52568868-52569297	K562	blood:	n/a	n/a
45	MXI1	chr3:52567414-52569221	HepG2	liver:	n/a	n/a
46	SIN3AK20	chr3:52568912-52569230	K562	blood:	n/a	n/a
47	MYBL2	chr3:52568756-52569219	HepG2	liver:	n/a	n/a
48	MAX	chr3:52568931-52569188	K562	blood:	n/a	n/a
49	E2F6	chr3:52568932-52569220	K562	blood:	n/a	n/a
50	POLR2A	chr3:52564773-52569282	K562	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:52569053-52569103	NB4	blood:	n/a
2	chr3:52569053-52569103	HCT-116	colon:	n/a
3	chr3:52569053-52569103	GM12891	blood:	n/a
4	chr3:52569097-52569147	HepG2	liver:	n/a
5	chr3:52569053-52569103	HAEpiC	amniotic membrane:	n/a
6	chr3:52569097-52569147	ProgFib	skin:	n/a
7	chr3:52569097-52569147	PFSK-1	brain:	n/a
8	chr3:52569053-52569103	AG09309	skin:	n/a
9	chr3:52569097-52569147	LNCaP	prostate:	n/a
10	chr3:52569053-52569103	NT2-D1	testis:	n/a
11	chr3:52569053-52569103	A549	lung:	n/a
12	chr3:52569097-52569147	GM06990	blood:	n/a
13	chr3:52569053-52569103	AG10803	skin:	n/a
14	chr3:52569053-52569103	HEEpiC	esophagus:	n/a
15	chr3:52569097-52569147	GM12892	blood:	n/a
16	chr3:52569053-52569103	RPTEC	kidney:	n/a
17	chr3:52569097-52569147	SAEC	small airway:	n/a
18	chr3:52569097-52569147	HRPEpiC	eye:	n/a
19	chr3:52569053-52569103	HL-60	blood:	n/a
20	chr3:52569097-52569147	HNPCEpiC	eye:	n/a
21	chr3:52569053-52569103	PANC-1	pancreas:	n/a
22	chr3:52569053-52569103	K562	blood:	n/a
23	chr3:52569053-52569103	PFSK-1	brain:	n/a
24	chr3:52569053-52569103	GM19239	blood:	n/a
25	chr3:52569053-52569103	SAEC	small airway:	n/a
26	chr3:52569097-52569147	HPAEpiC	pulmonary alveolar:	n/a
27	chr3:52569097-52569147	SK-N-MC	brain:	n/a
28	chr3:52569097-52569147	PANC-1	pancreas:	n/a
29	chr3:52569053-52569103	ProgFib	skin:	n/a
30	chr3:52569053-52569103	BJ	skin:	n/a
31	chr3:52569097-52569147	HIPEpiC	eye:	n/a
32	chr3:52569097-52569147	IMR90	lung:	fetal
33	chr3:52569053-52569103	MCF-7	breast:	n/a
34	chr3:52569097-52569147	Hepatocyte	liver:	n/a
35	chr3:52569053-52569103	HRCEpiC	kidney:	n/a
36	chr3:52569097-52569147	NH-A	brain:	n/a
37	chr3:52569053-52569103	Hela-S3	cervix:	n/a
38	chr3:52569053-52569103	Hepatocyte	liver:	n/a
39	chr3:52569097-52569147	AG04450	lung:	fetal
40	chr3:52569053-52569103	HIPEpiC	eye:	n/a
41	chr3:52569053-52569103	HCPEpiC	choroid plexus:	n/a
42	chr3:52569053-52569103	U87	brain:	n/a
43	chr3:52569097-52569147	HCT-116	colon:	n/a
44	chr3:52569053-52569103	HUVEC	blood vessel:	n/a
45	chr3:52569097-52569147	ECC-1	luminal epithelium:	n/a
46	chr3:52569097-52569147	HRCEpiC	kidney:	n/a
47	chr3:52569053-52569103	GM12878	blood:	n/a
48	chr3:52569097-52569147	NHDF-neo	bronchial:	n/a
49	chr3:52569053-52569103	AG04449	skin:	fetal
50	chr3:52569097-52569147	NB4	blood:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:52488081..52492441-chr3:52568649..52570860,4	K562	blood:
2	chr3:52568115..52572187-chr3:52717267..52721555,8	K562	blood:
3	chr3:52567779..52572340-chr3:52718708..52722750,6	K562	blood:
4	chr3:52527250..52529955-chr3:52567199..52569414,2	MCF-7	breast:
5	chr3:52554843..52559532-chr3:52566910..52570402,7	MCF-7	breast:
6	chr3:52567315..52569798-chr3:52739141..52741499,3	MCF-7	breast:
7	chr3:52551484..52554158-chr3:52567066..52569157,2	MCF-7	breast:
8	chr3:52567553..52570571-chr3:52718365..52721514,3	MCF-7	breast:
9	chr3:52567106..52571736-chr3:52712759..52716604,4	K562	blood:
10	chr3:52566406..52569677-chr3:52718507..52721358,5	MCF-7	breast:

No data

Variant related genes	Relation type
NT5DC2	TF binding region
SMIM4	TF binding region
NT5DC2	CpG island
SMIM4	CpG island
ENSG00000163939	Chromatin interaction
ENSG00000114902	Chromatin interaction
ENSG00000010327	Chromatin interaction
ENSG00000010322	Chromatin interaction
ENSG00000163938	Chromatin interaction
ENSG00000114854	Chromatin interaction
ENSG00000168268	Chromatin interaction
ENSG00000016864	Chromatin interaction

Extended variants
information (count: 184 )
Associated
traits (count: 18 )

rSNPs within LD-proxies of this variant (count:173)

rs_ID	r²[population]
rs1010552	0.90[CHB][hapmap]
rs1010553	0.86[CHB][hapmap];0.86[CHD][hapmap]
rs1010554	0.95[CHB][hapmap];0.89[CHD][hapmap]
rs10510760	0.95[CHB][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.83[ASN][1000 genomes]
rs10780035	0.93[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.96[MEX][hapmap];0.87[MKK][hapmap];0.93[TSI][hapmap];0.94[YRI][hapmap]
rs10865973	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs10865974	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap]
rs1108842	0.95[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap]
rs11130307	0.84[ASN][1000 genomes]
rs11130308	0.82[ASN][1000 genomes]
rs11130310	0.95[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.86[TSI][hapmap]
rs11130312	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[ASN][1000 genomes]
rs11130313	0.80[ASN][1000 genomes]
rs11130315	0.93[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.96[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap]
rs11130317	0.93[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.96[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap]
rs11177	0.93[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.96[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap]
rs11235	0.91[CHB][hapmap];0.83[JPT][hapmap]
rs1133415	0.92[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11708075	0.83[ASN][1000 genomes]
rs11709284	0.92[ASN][1000 genomes]
rs11709448	0.83[ASN][1000 genomes]
rs11711421	0.96[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11714419	0.95[CHB][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.91[MEX][hapmap];0.91[MKK][hapmap];0.93[TSI][hapmap];0.81[YRI][hapmap];0.85[ASN][1000 genomes]
rs11714565	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap];0.83[ASN][1000 genomes]
rs11716747	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.86[TSI][hapmap]
rs11717043	0.81[ASN][1000 genomes]
rs11718420	0.82[ASN][1000 genomes]
rs11718509	0.82[ASN][1000 genomes]
rs11720159	0.95[CHB][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs11720243	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.86[TSI][hapmap]
rs11720432	0.82[ASN][1000 genomes]
rs12486847	0.81[ASN][1000 genomes]
rs12487445	0.93[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs12487591	0.93[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.96[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs12488461	0.93[ASW][hapmap];0.91[CHB][hapmap];0.90[CHD][hapmap];0.89[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap]
rs12489732	1.00[ASN][1000 genomes]
rs12489828	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs12496634	0.93[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.96[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap]
rs12498066	0.82[ASN][1000 genomes]
rs12629701	0.81[ASN][1000 genomes]
rs12632381	0.84[ASN][1000 genomes]
rs12635140	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap]
rs13059862	0.95[ASN][1000 genomes]
rs13060048	0.95[ASN][1000 genomes]
rs13063160	0.91[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.84[TSI][hapmap];0.95[ASN][1000 genomes]
rs13064064	0.93[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.96[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs13065019	0.80[ASN][1000 genomes]
rs13065851	0.83[ASN][1000 genomes]
rs13068293	0.93[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.96[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs13069481	0.80[ASN][1000 genomes]
rs13076398	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13079063	0.95[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.82[MEX][hapmap];0.86[TSI][hapmap]
rs13081028	0.91[CHB][hapmap];0.91[CHD][hapmap];0.82[ASN][1000 genomes]
rs13081031	0.80[ASN][1000 genomes]
rs13083798	0.95[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap]
rs13085331	0.82[ASN][1000 genomes]
rs13085775	0.86[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap];0.82[TSI][hapmap];0.80[ASN][1000 genomes]
rs13085895	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[ASN][1000 genomes]
rs13086297	0.80[ASN][1000 genomes]
rs13094915	0.81[CHB][hapmap]
rs13303	1.00[CHB][hapmap];0.91[CHD][hapmap];0.91[JPT][hapmap];0.91[ASN][1000 genomes]
rs13621	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1561337	0.93[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.96[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs1570	0.97[ASN][1000 genomes]
rs17052256	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap];0.97[ASN][1000 genomes]
rs17052259	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs17264436	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs1821879	0.93[ASN][1000 genomes]
rs1866268	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap]
rs1961958	0.93[ASW][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];0.96[MEX][hapmap];0.96[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1961959	0.86[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2015971	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2028216	0.93[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.96[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap]
rs2079929	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap]
rs2083180	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap];0.80[ASN][1000 genomes]
rs2118540	0.94[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs2164884	1.00[ASW][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.91[MEX][hapmap];0.95[MKK][hapmap];0.91[TSI][hapmap];0.82[ASN][1000 genomes]
rs2164885	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap]
rs2251219	0.93[ASW][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.96[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2268027	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap]
rs2276824	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs2289247	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap]
rs2289249	0.95[CHB][hapmap];0.98[CHD][hapmap];0.84[GIH][hapmap];0.95[JPT][hapmap];0.81[LWK][hapmap];0.87[MEX][hapmap];0.95[MKK][hapmap];0.93[TSI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2289250	0.93[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.96[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.80[ASN][1000 genomes]
rs2336145	0.83[ASN][1000 genomes]
rs2336146	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap];0.82[ASN][1000 genomes]
rs2336149	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap]
rs2577831	0.95[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap]
rs2590838	0.95[CHB][hapmap];0.88[CHD][hapmap];0.91[JPT][hapmap]
rs28661185	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2878628	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap];0.97[ASN][1000 genomes]
rs33964154	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs33967311	0.93[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.87[MEX][hapmap];0.96[MKK][hapmap];0.91[TSI][hapmap];0.93[YRI][hapmap];0.80[ASN][1000 genomes]
rs34005367	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34017441	0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap]
rs34115864	0.84[ASN][1000 genomes]
rs34173654	0.83[ASN][1000 genomes]
rs34215106	0.81[ASN][1000 genomes]
rs34537256	0.82[ASN][1000 genomes]
rs34754793	0.82[ASN][1000 genomes]
rs34757451	0.80[ASN][1000 genomes]
rs34954168	0.83[ASN][1000 genomes]
rs35107891	0.85[ASN][1000 genomes]
rs35211965	0.80[ASN][1000 genomes]
rs35249778	0.81[ASN][1000 genomes]
rs35409678	0.81[ASN][1000 genomes]
rs35526119	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap]
rs3733039	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap]
rs3733041	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap]
rs3733045	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap];0.81[ASN][1000 genomes]
rs3755798	0.91[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap]
rs3755806	0.93[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];0.96[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs3774365	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs3774366	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap];0.81[ASN][1000 genomes]
rs3796353	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap];0.97[ASN][1000 genomes]
rs3852066	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.86[TSI][hapmap];0.82[ASN][1000 genomes]
rs4234633	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4282054	1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs4434138	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4475032	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];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4687546	0.83[ASN][1000 genomes]
rs4687547	0.83[ASN][1000 genomes]
rs4687548	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.80[ASN][1000 genomes]
rs4687624	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4687625	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4687629	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4687633	0.82[ASN][1000 genomes]
rs4687636	0.91[TSI][hapmap];0.82[ASN][1000 genomes]
rs4687637	0.81[ASN][1000 genomes]
rs4687638	0.93[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.96[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs4687639	0.81[ASN][1000 genomes]
rs62253700	0.83[ASN][1000 genomes]
rs62253703	0.81[ASN][1000 genomes]
rs62253733	0.83[ASN][1000 genomes]
rs62256903	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6445528	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6445529	0.80[ASN][1000 genomes]
rs6445534	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs6617	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs66782572	0.83[ASN][1000 genomes]
rs6762457	0.83[ASN][1000 genomes]
rs6762813	0.93[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.96[MKK][hapmap];0.93[TSI][hapmap];0.93[YRI][hapmap]
rs6778735	1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs6778844	0.93[ASW][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.96[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6786043	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap];0.92[ASN][1000 genomes]
rs6786919	0.95[CHB][hapmap];0.98[CHD][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap];0.95[ASN][1000 genomes]
rs6788887	0.95[ASN][1000 genomes]
rs6788993	0.95[ASN][1000 genomes]
rs6790330	0.81[ASN][1000 genomes]
rs6798246	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs68021750	0.83[ASN][1000 genomes]
rs6804145	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap]
rs6805156	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6976	0.95[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.96[MEX][hapmap];0.91[MKK][hapmap];0.93[TSI][hapmap];0.81[YRI][hapmap]
rs731831	0.86[CHB][hapmap];0.90[CHD][hapmap]
rs7611731	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap]
rs7614498	0.81[ASN][1000 genomes]
rs7614981	1.00[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs7622694	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap];0.80[ASN][1000 genomes]
rs7623199	0.84[ASN][1000 genomes]
rs7624716	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap]
rs7625743	0.83[ASN][1000 genomes]
rs7628578	0.82[ASN][1000 genomes]
rs7636227	0.93[ASN][1000 genomes]
rs7638808	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7651709	0.82[LWK][hapmap];0.81[YRI][hapmap]
rs7652191	0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap];0.83[ASN][1000 genomes]
rs767418	0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.86[TSI][hapmap]
rs8906	0.95[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.96[MEX][hapmap];0.91[MKK][hapmap];0.93[TSI][hapmap];0.81[YRI][hapmap]
rs9758945	0.90[ASN][1000 genomes]
rs9853056	0.91[CHB][hapmap];0.91[CHD][hapmap]
rs9879090	1.00[CHB][hapmap];0.91[JPT][hapmap]
rs9917834	0.82[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	nsv876789	chr3:52247110-52575831	Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	nsv834697	chr3:52400578-52579417	Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv876792	chr3:52430526-52575831	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv876793	chr3:52450043-52584787	Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	esv1818902	chr3:52481406-52572056	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv984563	chr3:52516115-52867075	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	63 gene(s)	inside rSNPs	diseases
7	nsv590305	chr3:52535586-52569480	Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv590307	chr3:52540773-52572056	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	nsv876795	chr3:52544470-52572056	Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
10	nsv876796	chr3:52549676-52572056	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
11	esv3389739	chr3:52566962-52569135	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:18)

SNP	Gene	Cis/trans	Tissue	Source
rs4687626	NEK4	cis	cerebellum	SCAN
rs4687626	NT5DC2	Cis_1M	lymphoblastoid	RTeQTL
rs4687626	ITIH4	cis	lymphoblastoid	seeQTL
rs4687626	NEK4	cis	parietal	SCAN
rs4687626	NT5DC2	cis	Skin Sun Exposed Lower leg	GTEx
rs4687626	SPCS1	cis	parietal	SCAN
rs4687626	GLT8D1	Cis_1M	lymphoblastoid	RTeQTL
rs4687626	RBM6	cis	parietal	SCAN
rs4687626	GLT8D1	cis	lymphoblastoid	seeQTL
rs4687626	GNL3	cis	cerebellum	SCAN
rs4687626	MUSTN1	cis	Artery Aorta	GTEx
rs4687626	RBM6	cis	cerebellum	SCAN
rs4687626	NT5DC2	cis	multi-tissue	Pritchard
rs4687626	SEMA3G	cis	parietal	SCAN
rs4687626	ITIH4	cis	parietal	SCAN
rs4687626	GNL3	cis	parietal	SCAN
rs4687626	TMEM110	cis	cerebellum	SCAN
rs4687626	NT5DC2	cis	lymphoblastoid	seeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52566200-52571600	Active TSS	Fetal Kidney	kidney
2	chr3:52566800-52569200	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr3:52566800-52569200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:52566800-52569400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr3:52567000-52569200	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr3:52567200-52569800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr3:52567600-52570000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr3:52568000-52569400	Enhancers	Fetal Brain Male	brain
9	chr3:52568000-52569400	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr3:52568200-52569200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr3:52568200-52569200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr3:52568200-52569200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr3:52568200-52569200	Flanking Active TSS	Fetal Muscle Trunk	muscle
14	chr3:52568200-52569200	Flanking Active TSS	NHLF	lung
15	chr3:52568200-52569400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr3:52568200-52569400	Flanking Active TSS	Osteobl	bone
17	chr3:52568200-52569800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr3:52568200-52569800	Weak transcription	Hela-S3	cervix
19	chr3:52568200-52570600	Weak transcription	Small Intestine	intestine
20	chr3:52568400-52569200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr3:52568400-52569200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr3:52568400-52569200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr3:52568400-52569200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr3:52568400-52569200	Flanking Active TSS	Fetal Intestine Small	intestine
25	chr3:52568400-52569200	Flanking Active TSS	Fetal Muscle Leg	muscle
26	chr3:52568400-52569200	Flanking Active TSS	NH-A	brain
27	chr3:52568400-52569400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr3:52568400-52569800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr3:52568400-52569800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr3:52568400-52570000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr3:52568400-52570000	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr3:52568400-52570000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr3:52568400-52570000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr3:52568400-52570000	Weak transcription	Thymus	Thymus
35	chr3:52568400-52570400	Flanking Active TSS	K562	blood
36	chr3:52568600-52569200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr3:52568600-52569200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr3:52568600-52569200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr3:52568600-52569200	Flanking Active TSS	Brain Germinal Matrix	brain
40	chr3:52568600-52569200	Flanking Active TSS	Fetal Brain Female	brain
41	chr3:52568600-52569200	Flanking Active TSS	Placenta Amnion	Placenta Amnion
42	chr3:52568600-52569200	Enhancers	Right Ventricle	heart
43	chr3:52568600-52569400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr3:52568600-52569600	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr3:52568600-52569800	Weak transcription	Primary T cells from cord blood	blood
46	chr3:52568600-52569800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr3:52568600-52570000	Weak transcription	Primary hematopoietic stem cells	blood
48	chr3:52568600-52570000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr3:52568600-52570000	Enhancers	Brain Cingulate Gyrus	brain
50	chr3:52568600-52570000	Enhancers	Brain Substantia Nigra	brain

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