Variant report

Variant	rs4718347
Chromosome Location	chr7:65904888-65904889
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	CEBPB	chr7:65904792-65905165	IMR90	lung:	n/a	n/a
2	HNF4A	chr7:65904637-65905166	HepG2	liver:	n/a	chr7:65905032-65905047 chr7:65905065-65905080
3	CEBPD	chr7:65904830-65905157	K562	blood:	n/a	n/a
4	JUN	chr7:65904670-65904921	HepG2	liver:	n/a	chr7:65904795-65904804 chr7:65904797-65904804
5	TEAD4	chr7:65904723-65905200	K562	blood:	n/a	n/a
6	RCOR1	chr7:65904800-65905141	K562	blood:	n/a	n/a
7	TCF7L2	chr7:65904685-65904903	Hela-S3	cervix:	n/a	chr7:65904795-65904804 chr7:65904804-65904820 chr7:65904804-65904820 chr7:65904808-65904817
8	TCF7L2	chr7:65904400-65905071	HEK293	kidney:	n/a	chr7:65904795-65904804 chr7:65904563-65904572 chr7:65904804-65904820 chr7:65904560-65904574 chr7:65904559-65904575 chr7:65904804-65904820 chr7:65904559-65904575 chr7:65904808-65904817
9	NR3C1	chr7:65904677-65905150	A549	lung:	n/a	n/a
10	CTCF	chr7:65904820-65904970	AoAF	blood vessel:	n/a	n/a
11	SP1	chr7:65904669-65905176	A549	lung:	n/a	n/a
12	HEY1	chr7:65904487-65905202	HepG2	liver:	n/a	n/a
13	CEBPB	chr7:65904797-65905170	HepG2	liver:	n/a	n/a
14	FOXA2	chr7:65904556-65905096	HepG2	liver:	n/a	n/a
15	CEBPB	chr7:65904722-65905151	K562	blood:	n/a	n/a
16	CTCF	chr7:65904840-65904990	HCPEpiC	choroid plexus:	n/a	n/a
17	FOXA2	chr7:65904633-65905249	A549	lung:	n/a	n/a
18	CEBPB	chr7:65904851-65905062	HepG2	liver:	n/a	n/a
19	CEBPB	chr7:65904804-65905147	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr7:65904840-65904990	HepG2	liver:	n/a	n/a
21	JUND	chr7:65904589-65905103	HepG2	liver:	n/a	chr7:65904795-65904804 chr7:65905091-65905100 chr7:65904797-65904804
22	CTCF	chr7:65904860-65905010	HVMF	connective:	n/a	n/a
23	CTCF	chr7:65904880-65905030	BJ	skin:	n/a	n/a
24	REST	chr7:65904725-65905156	HepG2	liver:	n/a	n/a
25	RAD21	chr7:65904825-65905040	IMR90	lung:	n/a	n/a
26	TCF12	chr7:65904668-65905095	HepG2	liver:	n/a	n/a
27	CTCF	chr7:65904840-65904990	HBMEC	blood vessel:	n/a	n/a
28	ARID3A	chr7:65904544-65905227	HepG2	liver:	n/a	n/a
29	TCF7L2	chr7:65904557-65904937	HepG2	liver:	n/a	chr7:65904795-65904804 chr7:65904563-65904572 chr7:65904804-65904820 chr7:65904560-65904574 chr7:65904559-65904575 chr7:65904804-65904820 chr7:65904559-65904575 chr7:65904808-65904817
30	TBP	chr7:65904834-65904984	HepG2	liver:	n/a	n/a
31	MXI1	chr7:65904828-65904926	HepG2	liver:	n/a	n/a
32	NFIC	chr7:65904606-65905141	HepG2	liver:	n/a	n/a
33	CEBPB	chr7:65904805-65905162	K562	blood:	n/a	n/a
34	TCF7L2	chr7:65904450-65904898	PANC-1	pancreas:	n/a	chr7:65904559-65904575 chr7:65904804-65904820 chr7:65904795-65904804 chr7:65904563-65904572 chr7:65904804-65904820 chr7:65904808-65904817 chr7:65904560-65904574 chr7:65904559-65904575
35	HDAC2	chr7:65904654-65905143	HepG2	liver:	n/a	chr7:65904978-65904987
36	NFIC	chr7:65903429-65905219	HepG2	liver:	n/a	n/a
37	JUND	chr7:65904649-65905044	HepG2	liver:	n/a	chr7:65904795-65904804 chr7:65904797-65904804
38	MAFK	chr7:65904790-65905015	IMR90	lung:	n/a	chr7:65904794-65904804
39	EP300	chr7:65904483-65905146	HepG2	liver:	n/a	chr7:65904795-65904804
40	FOXA2	chr7:65903559-65905183	HepG2	liver:	n/a	n/a
41	CTCF	chr7:65904840-65904990	HEK293	kidney:	n/a	n/a
42	JUND	chr7:65904661-65905059	HepG2	liver:	n/a	chr7:65904795-65904804 chr7:65904797-65904804
43	ZBTB33	chr7:65904746-65905086	HepG2	liver:	n/a	n/a
44	GATA1	chr7:65904646-65905395	K562	blood:	n/a	chr7:65904977-65904986 chr7:65904797-65904806 chr7:65904974-65904990 chr7:65904979-65904986 chr7:65904977-65904987
45	SP1	chr7:65904635-65905165	A549	lung:	n/a	n/a
46	CTCF	chr7:65904820-65904970	HCPEpiC	choroid plexus:	n/a	n/a
47	CTCF	chr7:65904840-65904990	HPAF	blood vessel:	n/a	n/a
48	CTCF	chr7:65904850-65904983	K562	blood:	n/a	n/a
49	FOSL2	chr7:65904530-65905130	A549	lung:	n/a	chr7:65904795-65904804 chr7:65904793-65904804 chr7:65905091-65905100 chr7:65904797-65904804
50	SMC3	chr7:65904854-65905026	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000236928	TF binding region

Extended variants
information (count: 183 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:174)

rs_ID	r²[population]
rs12530506	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12530546	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12530746	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12530947	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12531758	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12531900	0.81[EUR][1000 genomes]
rs12532060	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532173	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532182	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532247	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532249	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532267	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12532278	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532383	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12532423	0.81[EUR][1000 genomes]
rs12532657	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532675	0.81[EUR][1000 genomes]
rs12533387	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533744	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs12533877	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12533963	0.85[EUR][1000 genomes]
rs12534039	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12534249	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12534263	0.88[EUR][1000 genomes]
rs12534477	0.81[EUR][1000 genomes]
rs12534985	0.90[EUR][1000 genomes]
rs12535756	0.90[EUR][1000 genomes]
rs12536586	0.90[EUR][1000 genomes]
rs12536818	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12537037	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12537039	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12537368	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12537698	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12538011	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12538113	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12538147	0.81[EUR][1000 genomes]
rs12538379	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12538611	0.92[ASN][1000 genomes]
rs12538686	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12538961	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12539116	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12539696	0.85[EUR][1000 genomes]
rs12539749	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12539795	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540455	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12540667	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540888	0.81[EUR][1000 genomes]
rs1363056	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17228285	0.88[EUR][1000 genomes]
rs17228728	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs17229513	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs17229674	0.90[EUR][1000 genomes]
rs17294397	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs2075004	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs35910256	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3735145	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3735146	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3735150	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs3814466	0.90[EUR][1000 genomes]
rs3815684	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4078168	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs4149467	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4276561	0.90[EUR][1000 genomes]
rs4717291	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4717301	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs4717305	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs4718342	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4718345	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4718350	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4718353	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4718354	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4718368	0.90[EUR][1000 genomes]
rs4718372	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs4718376	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs4718379	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs4718380	0.90[EUR][1000 genomes]
rs4718381	0.85[EUR][1000 genomes]
rs4718382	0.90[EUR][1000 genomes]
rs62465362	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465363	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465364	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465365	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465367	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465372	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62465373	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465376	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62465377	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62465380	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62465389	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62465390	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62465391	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62465392	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62465394	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62465395	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62465396	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62465397	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62465399	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465400	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62465401	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465402	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62465403	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62465404	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62465405	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465422	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465424	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs62465425	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs62465426	0.88[EUR][1000 genomes]
rs62465427	1.00[AFR][1000 genomes]
rs62465428	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs62465429	0.90[EUR][1000 genomes]
rs62465431	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs62465432	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs62465433	0.85[EUR][1000 genomes]
rs62465436	1.00[AFR][1000 genomes]
rs62465457	0.90[EUR][1000 genomes]
rs62465458	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs62465519	0.81[EUR][1000 genomes]
rs62465521	0.81[EUR][1000 genomes]
rs62465522	0.81[EUR][1000 genomes]
rs62465525	0.81[EUR][1000 genomes]
rs62465526	0.81[EUR][1000 genomes]
rs62465527	0.81[EUR][1000 genomes]
rs62465542	0.81[EUR][1000 genomes]
rs62465552	0.81[EUR][1000 genomes]
rs62465554	0.81[EUR][1000 genomes]
rs62466081	0.90[EUR][1000 genomes]
rs62466083	0.90[EUR][1000 genomes]
rs62466084	0.90[EUR][1000 genomes]
rs62466085	0.90[EUR][1000 genomes]
rs62467760	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs62467762	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs62467763	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs62467764	0.90[EUR][1000 genomes]
rs62467765	0.90[EUR][1000 genomes]
rs62467766	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs62467767	0.83[EUR][1000 genomes]
rs62467768	0.85[EUR][1000 genomes]
rs62467769	0.90[EUR][1000 genomes]
rs62467770	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs62467771	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs62467801	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs62467802	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs62467804	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs62467805	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs62467811	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs62467814	0.90[EUR][1000 genomes]
rs62467816	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs62467856	0.88[EUR][1000 genomes]
rs62468669	0.83[EUR][1000 genomes]
rs62468673	0.85[EUR][1000 genomes]
rs62468674	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62468677	0.90[EUR][1000 genomes]
rs62468679	0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62468696	0.90[EUR][1000 genomes]
rs62468699	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62468700	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62468702	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62468705	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62468707	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62468708	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62468709	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62468710	0.81[ASN][1000 genomes]
rs62468711	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62468712	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62469060	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs62469061	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs62469062	0.90[EUR][1000 genomes]
rs62469064	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs62469066	0.90[EUR][1000 genomes]
rs62469067	0.90[EUR][1000 genomes]
rs62469069	0.90[EUR][1000 genomes]
rs62469070	0.90[EUR][1000 genomes]
rs62469072	1.00[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7384751	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv1035107	chr7:65814901-66114919	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv538909	chr7:65814901-66114919	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
5	nsv888326	chr7:65825257-66066999	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv482441	chr7:65885824-66061788	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	esv1802195	chr7:65886451-65945211	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1027068	chr7:65901543-65991211	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv966832	chr7:65901934-65916028	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4718347	RABGEF1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65879000-65905600	Weak transcription	Lung	lung
2	chr7:65879000-65909000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:65879000-65922200	Weak transcription	Small Intestine	intestine
4	chr7:65879200-65907400	Weak transcription	Esophagus	oesophagus
5	chr7:65879200-65924600	Weak transcription	Brain Anterior Caudate	brain
6	chr7:65879200-65939800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr7:65879200-65946000	Weak transcription	NHEK	skin
8	chr7:65879200-65957600	Weak transcription	Psoas Muscle	Psoas
9	chr7:65879400-65909200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr7:65879400-65914200	Weak transcription	Left Ventricle	heart
11	chr7:65879400-65914200	Weak transcription	GM12878-XiMat	blood
12	chr7:65879400-65917200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr7:65879400-65921000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr7:65879400-65921400	Weak transcription	Fetal Kidney	kidney
15	chr7:65879600-65907600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:65879600-65913600	Weak transcription	Primary B cells from peripheral blood	blood
17	chr7:65879600-65919000	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr7:65879600-65920400	Weak transcription	Primary B cells from cord blood	blood
19	chr7:65879800-65913600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr7:65884000-65919600	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr7:65886000-65913600	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr7:65886600-65920400	Weak transcription	Right Ventricle	heart
23	chr7:65887000-65924600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr7:65887000-65924600	Weak transcription	Brain Hippocampus Middle	brain
25	chr7:65889200-65939600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr7:65889600-65913800	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr7:65890000-65928800	Weak transcription	Adipose Nuclei	Adipose
28	chr7:65890200-65907400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr7:65890400-65916200	Weak transcription	Fetal Thymus	thymus
30	chr7:65891600-65939000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr7:65892000-65931800	Weak transcription	Ovary	ovary
32	chr7:65893200-65913400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr7:65894200-65905400	Weak transcription	Gastric	stomach
34	chr7:65894200-65939200	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr7:65894600-65905200	Weak transcription	Pancreas	Pancrea
36	chr7:65894800-65914000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr7:65895200-65913400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr7:65895400-65907400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr7:65895800-65905200	Weak transcription	Fetal Intestine Large	intestine
40	chr7:65897600-65913200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr7:65898200-65938200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr7:65900000-65907600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr7:65900200-65913600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:65900200-65913800	Weak transcription	Fetal Stomach	stomach
45	chr7:65900400-65911000	Weak transcription	Fetal Muscle Leg	muscle
46	chr7:65900800-65912200	Weak transcription	Primary T cells from cord blood	blood
47	chr7:65902400-65905600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr7:65902600-65905800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr7:65902600-65906000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:65903000-65922000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links