Variant report

Variant	rs1787000
Chromosome Location	chr18:13113197-13113198
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	CTCF	chr18:13113140-13113290	GM06990	blood:	n/a	chr18:13113214-13113232 chr18:13113216-13113237
2	CTCF	chr18:13113140-13113290	AG10803	skin:	n/a	chr18:13113214-13113232 chr18:13113216-13113237
3	RAD21	chr18:13112928-13113465	ECC-1	luminal epithelium:	n/a	chr18:13113215-13113234
4	CTCF	chr18:13113180-13113330	AG04450	lung:	n/a	chr18:13113214-13113232 chr18:13113216-13113237
5	CTCF	chr18:13113140-13113290	MCF-7	breast:	n/a	chr18:13113214-13113232 chr18:13113216-13113237
6	CTCF	chr18:13113162-13113305	NHEK	skin:	n/a	chr18:13113214-13113232 chr18:13113216-13113237
7	CTCF	chr18:13113180-13113330	HVMF	connective:	n/a	chr18:13113214-13113232 chr18:13113216-13113237
8	CTCF	chr18:13112980-13113350	H1-hESC	embryonic stem cell:	n/a	chr18:13113214-13113232 chr18:13113216-13113237
9	RAD21	chr18:13113007-13113443	H1-hESC	embryonic stem cell:	n/a	chr18:13113215-13113234
10	CTCF	chr18:13113120-13113270	HCM	heart:	n/a	chr18:13113214-13113232 chr18:13113216-13113237
11	CTCF	chr18:13113140-13113290	HCPEpiC	choroid plexus:	n/a	chr18:13113214-13113232 chr18:13113216-13113237
12	CTCF	chr18:13113078-13113317	H1-hESC	embryonic stem cell:	n/a	chr18:13113214-13113232 chr18:13113216-13113237
13	CTCF	chr18:13113140-13113290	SK-N-SH_RA	brain:	n/a	chr18:13113214-13113232 chr18:13113216-13113237
14	MAX	chr18:13113123-13113303	HepG2	liver:	n/a	n/a
15	RAD21	chr18:13113080-13113282	GM12878	blood:	n/a	chr18:13113215-13113234
16	CTCF	chr18:13113160-13113310	HEK293	kidney:	n/a	chr18:13113214-13113232 chr18:13113216-13113237
17	RAD21	chr18:13113027-13113420	SK-N-SH_RA	brain:	n/a	chr18:13113215-13113234
18	CTCF	chr18:13113162-13113299	Hela-S3	cervix:	n/a	chr18:13113214-13113232 chr18:13113216-13113237
19	CTCF	chr18:13112961-13113508	MCF-7	breast:	n/a	chr18:13113214-13113232 chr18:13113216-13113237
20	RAD21	chr18:13113015-13113410	HepG2	liver:	n/a	chr18:13113215-13113234
21	CTCF	chr18:13113147-13113305	GM12878	blood:	n/a	chr18:13113214-13113232 chr18:13113216-13113237
22	CTCF	chr18:13113140-13113290	HCFaa	heart:	n/a	chr18:13113214-13113232 chr18:13113216-13113237
23	CTCF	chr18:13113140-13113290	GM12868	blood:	n/a	chr18:13113214-13113232 chr18:13113216-13113237
24	CTCF	chr18:13113160-13113310	GM12871	blood:	n/a	chr18:13113214-13113232 chr18:13113216-13113237
25	CTCF	chr18:13113180-13113330	NHDF-neo	bronchial:	n/a	chr18:13113214-13113232 chr18:13113216-13113237
26	CTCF	chr18:13113120-13113270	HMF	breast:	n/a	chr18:13113214-13113232 chr18:13113216-13113237
27	CTCF	chr18:13113125-13113298	GM12891	blood:	n/a	chr18:13113214-13113232 chr18:13113216-13113237
28	RAD21	chr18:13112968-13113458	A549	lung:	n/a	chr18:13113215-13113234
29	CTCF	chr18:13113140-13113290	GM12874	blood:	n/a	chr18:13113214-13113232 chr18:13113216-13113237
30	CTCF	chr18:13113013-13113400	K562	blood:	n/a	chr18:13113214-13113232 chr18:13113216-13113237
31	CTCF	chr18:13113092-13113309	SK-N-SH_RA	brain:	n/a	chr18:13113214-13113232 chr18:13113216-13113237
32	CTCF	chr18:13113048-13113389	GM12878	blood:	n/a	chr18:13113214-13113232 chr18:13113216-13113237
33	ARID3A	chr18:13113042-13113259	HepG2	liver:	n/a	n/a
34	CTCF	chr18:13113120-13113270	HVMF	connective:	n/a	chr18:13113214-13113232 chr18:13113216-13113237
35	CTCF	chr18:13113120-13113270	RPTEC	kidney:	n/a	chr18:13113214-13113232 chr18:13113216-13113237
36	MXI1	chr18:13112266-13113657	SK-N-SH	brain:	n/a	n/a
37	CTCF	chr18:13113068-13113330	A549	lung:	n/a	chr18:13113214-13113232 chr18:13113216-13113237
38	CTCF	chr18:13113100-13113250	GM12872	blood:	n/a	chr18:13113214-13113232 chr18:13113216-13113237
39	CTCF	chr18:13113100-13113250	AG09309	skin:	n/a	chr18:13113214-13113232 chr18:13113216-13113237
40	SMC3	chr18:13113053-13113417	HepG2	liver:	n/a	chr18:13113216-13113230
41	CTCF	chr18:13113160-13113281	GM13977	blood:	n/a	chr18:13113214-13113232 chr18:13113216-13113237
42	CTCF	chr18:13113140-13113290	HRE	kidney:	n/a	chr18:13113214-13113232 chr18:13113216-13113237
43	CTCF	chr18:13113182-13113295	HUVEC	blood vessel:	n/a	chr18:13113214-13113232 chr18:13113216-13113237
44	RAD21	chr18:13113100-13113323	Hela-S3	cervix:	n/a	chr18:13113215-13113234
45	CTCF	chr18:13113180-13113330	HFF-Myc	foreskin:	n/a	chr18:13113214-13113232 chr18:13113216-13113237
46	BRCA1	chr18:13113187-13113250	HepG2	liver:	n/a	n/a
47	CTCF	chr18:13113180-13113330	HepG2	liver:	n/a	chr18:13113214-13113232 chr18:13113216-13113237
48	CTCF	chr18:13113034-13113419	K562	blood:	n/a	chr18:13113214-13113232 chr18:13113216-13113237
49	CTCF	chr18:13113160-13113310	RPTEC	kidney:	n/a	chr18:13113214-13113232 chr18:13113216-13113237
50	POLR2A	chr18:13113128-13113249	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:13113026..13115361-chr18:13116493..13119235,2	K562	blood:
2	chr18:13112880..13113643-chr18:13202300..13202873,2	MCF-7	breast:
3	chr18:13112790..13113500-chr18:13216185..13216990,2	MCF-7	breast:
4	chr18:13105332..13108068-chr18:13112707..13115256,2	K562	blood:
5	chr18:13112982..13113595-chr18:13800638..13801184,2	MCF-7	breast:
6	chr18:13105332..13108593-chr18:13112315..13115256,3	K562	blood:

Variant related genes	Relation type
CEP192	TF binding region
ENSG00000267239	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 16 )

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10221326	0.92[CHB][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10221384	0.89[CEU][hapmap];0.82[MEX][hapmap];0.82[AMR][1000 genomes]
rs11080620	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];0.95[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11663049	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.92[TSI][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12605638	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12954256	0.92[CEU][hapmap];0.93[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap]
rs12955780	1.00[ASW][hapmap];0.88[CEU][hapmap];0.93[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1474043	1.00[ASW][hapmap];0.92[CEU][hapmap];0.87[CHB][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.88[AMR][1000 genomes]
rs1786263	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1786270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1786279	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1787003	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1787004	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1787008	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];0.95[MEX][hapmap];0.87[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1973779	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28619103	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28641764	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2902856	1.00[ASW][hapmap];0.94[CHD][hapmap];0.90[JPT][hapmap];0.90[LWK][hapmap];1.00[MKK][hapmap];0.81[TSI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35790309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3809912	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.89[MKK][hapmap];0.81[TSI][hapmap]
rs472702	0.92[CEU][hapmap];0.82[MEX][hapmap]
rs472992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs473580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs474337	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];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs475139	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs478006	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs482360	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs482577	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs490853	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs491349	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs492458	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs492723	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs498685	0.92[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4995995	1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs518145	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs527839	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs529620	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs547084	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs554719	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs554854	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs556371	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs556536	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs557846	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs562151	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs565832	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs567031	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs569453	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs570505	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];0.95[MEX][hapmap];0.87[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap]
rs576963	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs578208	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6505775	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6505776	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6505777	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6505780	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];0.95[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs692833	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs692964	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71353243	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7226616	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7229870	0.82[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7233600	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7233814	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7234094	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7234960	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7236162	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7236764	0.89[AMR][1000 genomes]
rs7237236	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7241536	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7243660	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8088313	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs8089123	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8097038	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8097125	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9783859	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9783903	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9948139	0.88[AMR][1000 genomes]
rs9948681	0.81[AMR][1000 genomes]
rs9949589	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9949682	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9951698	0.81[AMR][1000 genomes]
rs9952698	0.85[AMR][1000 genomes]
rs9958369	0.89[AMR][1000 genomes]
rs9961669	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9964466	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv1057083	chr18:12916779-13207538	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv576524	chr18:12918318-13183609	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv1056593	chr18:12926314-13183383	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv1064364	chr18:12926314-13207686	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	nsv833591	chr18:13093777-13253748	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:16)

SNP	Gene	Cis/trans	Tissue	Source
rs1787000	CEP192	cis	Stomach	GTEx
rs1787000	CEP192	cis	Adipose Subcutaneous	GTEx
rs1787000	CEP192	cis	multi-tissue	Pritchard
rs1787000	CEP192	cis	Artery Aorta	GTEx
rs1787000	CEP192	cis	Esophagus Mucosa	GTEx
rs1787000	CEP192	cis	Brain Pons	GTEx
rs1787000	CEP192	cis	Thyroid	GTEx
rs1787000	CEP192	cis	lung	GTEx
rs1787000	CEP192	cis	Skin Sun Exposed Lower leg	GTEx
rs1787000	CEP192	cis	Artery Tibial	GTEx
rs1787000	CEP192	cis	parietal	SCAN
rs1787000	CEP192	cis	Whole Blood	GTEx
rs1787000	CEP192	cis	cerebellum	SCAN
rs1787000	CEP192	cis	Nerve Tibial	GTEx
rs1787000	CEP192	cis	Temporal Cortex	GTEx
rs1787000	CEP192	cis	Esophagus Muscularis	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13018600-13117400	Weak transcription	Stomach Mucosa	stomach
2	chr18:13086400-13128000	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr18:13089400-13122200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr18:13097200-13118800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr18:13098800-13121200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr18:13099200-13124800	Strong transcription	Fetal Thymus	thymus
7	chr18:13099200-13127800	Strong transcription	Dnd41	blood
8	chr18:13099200-13128200	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr18:13099400-13129400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr18:13105400-13115400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr18:13106200-13130000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr18:13106800-13115200	Weak transcription	Gastric	stomach
13	chr18:13106800-13115400	Weak transcription	Aorta	Aorta
14	chr18:13106800-13115600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr18:13106800-13135400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr18:13107000-13117600	Weak transcription	NHLF	lung
17	chr18:13107000-13130400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr18:13107200-13114400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr18:13107200-13115200	Weak transcription	Fetal Brain Male	brain
20	chr18:13107200-13115800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr18:13107200-13117000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr18:13107200-13117600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr18:13107200-13117600	Weak transcription	NHDF-Ad	bronchial
24	chr18:13107400-13115200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr18:13107600-13113800	Weak transcription	HMEC	breast
26	chr18:13107800-13121000	Weak transcription	Brain Substantia Nigra	brain
27	chr18:13108000-13115200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr18:13108400-13115400	Weak transcription	Colonic Mucosa	Colon
29	chr18:13108400-13117400	Weak transcription	Hela-S3	cervix
30	chr18:13108400-13117600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr18:13108800-13115800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr18:13108800-13116200	Weak transcription	Stomach Smooth Muscle	stomach
33	chr18:13109000-13113200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr18:13109200-13113200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr18:13109200-13113600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr18:13109200-13115000	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr18:13109200-13115200	Weak transcription	Primary hematopoietic stem cells	blood
38	chr18:13109200-13115200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr18:13109200-13115200	Weak transcription	Brain Angular Gyrus	brain
40	chr18:13109200-13115200	Weak transcription	Esophagus	oesophagus
41	chr18:13109200-13115200	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr18:13109200-13115400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr18:13109200-13117400	Weak transcription	Brain Anterior Caudate	brain
44	chr18:13109200-13117600	Weak transcription	Small Intestine	intestine
45	chr18:13109200-13117600	Weak transcription	A549	lung
46	chr18:13109200-13117600	Weak transcription	HSMMtube	muscle
47	chr18:13109400-13113400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr18:13109400-13114200	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr18:13109400-13114200	Weak transcription	HSMM	muscle
50	chr18:13109400-13115200	Weak transcription	Brain Germinal Matrix	brain

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