Variant report

Variant	rs4717301
Chromosome Location	chr7:66013974-66013975
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:66013223..66015993-chr7:66016033..66017607,2	K562	blood:

Extended variants
information (count: 247 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:237)

rs_ID	r²[population]
rs12530546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12530746	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12530947	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12531402	0.95[EUR][1000 genomes]
rs12531690	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12531758	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12532060	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs12532147	0.95[EUR][1000 genomes]
rs12532173	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12532182	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12532247	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12532249	1.00[EUR][1000 genomes]
rs12532267	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12532278	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12532383	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12532657	0.97[EUR][1000 genomes]
rs12533387	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12533744	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12533877	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12533886	0.95[EUR][1000 genomes]
rs12533963	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12534039	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12534192	0.92[EUR][1000 genomes]
rs12534249	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12534263	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12534355	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12534391	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12534435	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12534985	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12535363	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12535756	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12535766	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12536586	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12536818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12537037	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12537039	1.00[EUR][1000 genomes]
rs12537346	0.95[EUR][1000 genomes]
rs12537368	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12537403	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12537545	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12537698	1.00[EUR][1000 genomes]
rs12537771	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12538011	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12538113	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12538686	0.92[EUR][1000 genomes]
rs12539116	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12539191	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12539522	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12539696	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12539749	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12539795	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12540455	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12540536	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12540667	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1363056	1.00[EUR][1000 genomes]
rs17228285	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17228728	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17229513	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17229674	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17230057	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17294397	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2075004	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2279934	0.95[EUR][1000 genomes]
rs2279935	0.90[EUR][1000 genomes]
rs2286682	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2286685	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2286686	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28431850	0.95[EUR][1000 genomes]
rs35910256	1.00[EUR][1000 genomes]
rs3735145	1.00[EUR][1000 genomes]
rs3735146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3735150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3757420	0.95[EUR][1000 genomes]
rs3778906	0.95[EUR][1000 genomes]
rs3800811	0.92[EUR][1000 genomes]
rs3814466	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3815684	1.00[EUR][1000 genomes]
rs4078168	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4149467	1.00[EUR][1000 genomes]
rs4276561	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4717291	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4717305	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4717309	1.00[EUR][1000 genomes]
rs4717311	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4717312	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4717313	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4717314	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4717316	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4718342	1.00[EUR][1000 genomes]
rs4718345	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4718347	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs4718350	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4718353	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4718354	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4718368	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4718372	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4718376	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4718379	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4718380	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4718381	0.95[EUR][1000 genomes]
rs4718382	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4718390	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4718391	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4718392	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4718393	0.95[EUR][1000 genomes]
rs4718394	0.84[EUR][1000 genomes]
rs4718395	0.95[EUR][1000 genomes]
rs4718396	0.95[EUR][1000 genomes]
rs4718397	0.95[EUR][1000 genomes]
rs62465362	1.00[EUR][1000 genomes]
rs62465363	0.95[EUR][1000 genomes]
rs62465364	0.97[EUR][1000 genomes]
rs62465365	0.95[EUR][1000 genomes]
rs62465367	0.97[EUR][1000 genomes]
rs62465372	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62465373	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62465376	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs62465377	0.97[EUR][1000 genomes]
rs62465380	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62465389	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62465390	0.97[EUR][1000 genomes]
rs62465391	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62465392	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62465394	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62465395	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62465396	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62465397	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62465399	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62465400	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62465401	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62465402	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62465403	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62465404	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62465405	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs62465422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62465424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62465425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465426	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62465427	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62465429	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62465431	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62465432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465433	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62465436	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62465457	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62466081	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62466083	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62466084	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62466085	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62466086	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62466087	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62466090	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62466091	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62466122	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62466123	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62466125	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62466126	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62466127	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62466128	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62466133	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62466134	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62466136	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62466137	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62466138	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62466139	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62466140	0.88[EUR][1000 genomes]
rs62466141	0.95[EUR][1000 genomes]
rs62466142	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs62466143	0.97[EUR][1000 genomes]
rs62466144	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62466145	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62466146	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62466147	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62466148	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62466787	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62466788	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62466789	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62466792	1.00[EUR][1000 genomes]
rs62466795	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62466797	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62466798	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62466799	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62466801	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62466802	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62466803	0.95[EUR][1000 genomes]
rs62466805	0.89[EUR][1000 genomes]
rs62466806	0.95[EUR][1000 genomes]
rs62466808	0.95[EUR][1000 genomes]
rs62466847	0.95[EUR][1000 genomes]
rs62466848	0.95[EUR][1000 genomes]
rs62466850	0.92[EUR][1000 genomes]
rs62466851	0.95[EUR][1000 genomes]
rs62466852	0.95[EUR][1000 genomes]
rs62467760	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62467762	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62467763	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62467764	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62467765	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62467766	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62467767	0.92[EUR][1000 genomes]
rs62467768	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62467769	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62467770	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62467771	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62467801	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62467802	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62467804	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62467805	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62467811	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62467814	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62467816	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62467856	0.97[EUR][1000 genomes]
rs62468679	1.00[EUR][1000 genomes]
rs62468696	1.00[EUR][1000 genomes]
rs62468699	0.90[EUR][1000 genomes]
rs62468700	1.00[EUR][1000 genomes]
rs62468702	1.00[EUR][1000 genomes]
rs62468705	1.00[EUR][1000 genomes]
rs62468707	0.97[EUR][1000 genomes]
rs62468708	0.97[EUR][1000 genomes]
rs62468709	0.92[EUR][1000 genomes]
rs62468711	1.00[EUR][1000 genomes]
rs62468712	0.95[EUR][1000 genomes]
rs62469060	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62469061	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62469062	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62469064	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62469066	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62469067	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62469069	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62469070	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62469072	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7384751	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9801144	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9801269	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	esv3447484	chr7:65909457-66033145	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	esv3377926	chr7:65934493-66051484	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
9	nsv888327	chr7:65938980-66029429	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised 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	29 gene(s)	inside rSNPs	diseases
10	esv3423847	chr7:65941210-66054107	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4717301	RABGEF1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65994000-66014400	Weak transcription	Colon Smooth Muscle	Colon
2	chr7:65995000-66017200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:65999800-66022400	Strong transcription	Fetal Stomach	stomach
4	chr7:66000600-66019200	Weak transcription	Fetal Kidney	kidney
5	chr7:66000800-66016600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:66001200-66014400	Weak transcription	A549	lung
7	chr7:66001400-66022400	Weak transcription	Stomach Mucosa	stomach
8	chr7:66002800-66016000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr7:66003600-66018800	Weak transcription	GM12878-XiMat	blood
10	chr7:66003800-66022200	Strong transcription	Stomach Smooth Muscle	stomach
11	chr7:66003800-66022800	Strong transcription	Fetal Intestine Small	intestine
12	chr7:66004400-66052600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr7:66004600-66016600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr7:66004800-66015400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr7:66004800-66019200	Weak transcription	HUVEC	blood vessel
16	chr7:66004800-66037200	Weak transcription	Psoas Muscle	Psoas
17	chr7:66005000-66014400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr7:66005000-66016800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr7:66005200-66016600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr7:66005200-66022400	Strong transcription	Fetal Muscle Trunk	muscle
21	chr7:66005800-66016800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:66006000-66020000	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr7:66006000-66022200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr7:66006200-66019400	Strong transcription	Adipose Nuclei	Adipose
25	chr7:66006200-66021000	Strong transcription	Fetal Intestine Large	intestine
26	chr7:66006200-66022200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:66006200-66022400	Strong transcription	Lung	lung
28	chr7:66006200-66022600	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr7:66006200-66024400	Strong transcription	Fetal Muscle Leg	muscle
30	chr7:66006200-66024400	Strong transcription	Thymus	Thymus
31	chr7:66006400-66022800	Strong transcription	Brain Germinal Matrix	brain
32	chr7:66006600-66022800	Weak transcription	Fetal Brain Male	brain
33	chr7:66006800-66014400	Weak transcription	NHEK	skin
34	chr7:66007600-66021000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr7:66008000-66016400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:66008000-66016600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr7:66008000-66017400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:66008200-66016400	Weak transcription	HMEC	breast
39	chr7:66008200-66016600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr7:66008200-66016600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr7:66008200-66017000	Weak transcription	NH-A	brain
42	chr7:66008200-66022000	Weak transcription	Right Atrium	heart
43	chr7:66008200-66022200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr7:66008400-66022600	Weak transcription	Fetal Heart	heart
45	chr7:66008600-66056000	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr7:66008800-66015400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr7:66008800-66022400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr7:66008800-66022400	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr7:66008800-66022600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr7:66009000-66016600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links