Variant report

Variant	rs62465427
Chromosome Location	chr7:65985402-65985403
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 191 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:180)

rs_ID	r²[population]
rs12530546	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12530746	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12530947	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12531758	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12532060	1.00[AFR][1000 genomes]
rs12532173	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12532182	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12532247	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12532249	0.81[EUR][1000 genomes]
rs12532267	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12532278	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12532383	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12533387	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12533744	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs12533877	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12534249	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12534355	1.00[AFR][1000 genomes]
rs12534391	0.81[EUR][1000 genomes]
rs12534435	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12534985	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12535363	0.81[EUR][1000 genomes]
rs12535756	0.81[EUR][1000 genomes]
rs12535766	0.81[EUR][1000 genomes]
rs12536586	0.81[EUR][1000 genomes]
rs12536818	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12537037	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12537039	0.81[EUR][1000 genomes]
rs12537368	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12537403	0.81[EUR][1000 genomes]
rs12537545	0.81[EUR][1000 genomes]
rs12537698	0.81[EUR][1000 genomes]
rs12538113	0.81[EUR][1000 genomes]
rs12538379	0.81[EUR][1000 genomes]
rs12538961	0.81[EUR][1000 genomes]
rs12539116	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12539191	0.81[EUR][1000 genomes]
rs12539522	0.81[EUR][1000 genomes]
rs12539749	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12539795	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12540455	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12540536	0.81[EUR][1000 genomes]
rs1363056	0.81[EUR][1000 genomes]
rs17228728	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17229513	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17229674	0.81[EUR][1000 genomes]
rs17230057	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs17294397	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2075004	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2286682	0.81[EUR][1000 genomes]
rs2286686	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs28431850	0.81[EUR][1000 genomes]
rs35910256	0.81[EUR][1000 genomes]
rs3735145	0.81[EUR][1000 genomes]
rs3735146	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs3735150	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3814466	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3815684	0.81[EUR][1000 genomes]
rs4078168	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4149467	0.81[EUR][1000 genomes]
rs4276561	0.81[EUR][1000 genomes]
rs4717291	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4717301	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4717305	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4717309	0.81[EUR][1000 genomes]
rs4717311	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4717312	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4717313	0.81[EUR][1000 genomes]
rs4717314	0.81[EUR][1000 genomes]
rs4717316	0.81[EUR][1000 genomes]
rs4718342	0.81[EUR][1000 genomes]
rs4718345	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4718347	1.00[AFR][1000 genomes]
rs4718350	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4718354	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4718368	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4718372	1.00[AFR][1000 genomes]
rs4718376	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4718379	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4718380	0.81[EUR][1000 genomes]
rs4718382	0.81[EUR][1000 genomes]
rs4718390	0.81[EUR][1000 genomes]
rs4718391	0.81[EUR][1000 genomes]
rs62465362	0.81[EUR][1000 genomes]
rs62465372	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs62465373	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs62465376	1.00[AFR][1000 genomes]
rs62465380	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs62465389	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs62465392	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs62465394	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs62465395	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs62465396	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs62465397	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs62465399	1.00[AFR][1000 genomes]
rs62465400	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs62465401	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62465402	1.00[AFR][1000 genomes]
rs62465403	1.00[AFR][1000 genomes]
rs62465404	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs62465405	1.00[AFR][1000 genomes]
rs62465422	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs62465424	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62465425	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62465426	0.95[ASN][1000 genomes]
rs62465428	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465429	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465431	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62465432	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs62465433	0.95[ASN][1000 genomes]
rs62465436	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs62465457	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62465458	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62466081	0.81[EUR][1000 genomes]
rs62466083	0.81[EUR][1000 genomes]
rs62466084	0.81[EUR][1000 genomes]
rs62466085	0.81[EUR][1000 genomes]
rs62466086	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs62466087	0.81[EUR][1000 genomes]
rs62466090	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs62466091	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs62466122	0.81[EUR][1000 genomes]
rs62466123	0.81[EUR][1000 genomes]
rs62466126	0.81[EUR][1000 genomes]
rs62466127	0.81[EUR][1000 genomes]
rs62466128	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs62466133	0.81[EUR][1000 genomes]
rs62466134	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs62466136	0.81[EUR][1000 genomes]
rs62466137	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs62466138	0.81[EUR][1000 genomes]
rs62466139	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs62466141	0.80[EUR][1000 genomes]
rs62466142	1.00[AFR][1000 genomes]
rs62466144	0.81[EUR][1000 genomes]
rs62466145	0.81[EUR][1000 genomes]
rs62466146	0.81[EUR][1000 genomes]
rs62466147	0.81[EUR][1000 genomes]
rs62466148	0.81[EUR][1000 genomes]
rs62466787	0.81[EUR][1000 genomes]
rs62466788	0.81[EUR][1000 genomes]
rs62466789	0.81[EUR][1000 genomes]
rs62466792	0.81[EUR][1000 genomes]
rs62466795	0.81[EUR][1000 genomes]
rs62466797	0.81[EUR][1000 genomes]
rs62466798	0.81[EUR][1000 genomes]
rs62466801	0.81[EUR][1000 genomes]
rs62466802	0.81[EUR][1000 genomes]
rs62467760	1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs62467762	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs62467763	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs62467764	0.81[EUR][1000 genomes]
rs62467765	0.81[EUR][1000 genomes]
rs62467766	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs62467769	0.81[EUR][1000 genomes]
rs62467770	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs62467771	1.00[AFR][1000 genomes]
rs62467801	1.00[AFR][1000 genomes]
rs62467802	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs62467804	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs62467805	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs62467811	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs62467814	0.81[EUR][1000 genomes]
rs62467816	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs62468677	0.81[EUR][1000 genomes]
rs62468679	0.81[EUR][1000 genomes]
rs62468696	0.81[EUR][1000 genomes]
rs62468700	0.81[EUR][1000 genomes]
rs62468702	0.81[EUR][1000 genomes]
rs62468705	0.81[EUR][1000 genomes]
rs62468711	0.81[EUR][1000 genomes]
rs62469060	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs62469061	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs62469062	0.81[EUR][1000 genomes]
rs62469064	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs62469066	0.81[EUR][1000 genomes]
rs62469067	0.81[EUR][1000 genomes]
rs62469069	0.81[EUR][1000 genomes]
rs62469070	0.81[EUR][1000 genomes]
rs62469072	1.00[AFR][1000 genomes]
rs7384751	0.81[EUR][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	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	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
8	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
9	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
10	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
11	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
rs62465427	RABGEF1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65975200-65989600	Weak transcription	Fetal Intestine Small	intestine
2	chr7:65980600-65989400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:65981400-66001000	Weak transcription	Fetal Brain Female	brain
4	chr7:65982600-65989000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:65983000-65990200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr7:65983400-66001800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:65983400-66006000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr7:65983600-65987400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr7:65983600-65994400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:65983600-66000400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:65984400-65987600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr7:65985200-65986200	Flanking Active TSS	HepG2	liver
13	chr7:65985200-65986600	Enhancers	Liver	Liver
14	chr7:65985400-65985600	Flanking Active TSS	Spleen	Spleen

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