Variant report

Variant	rs62466586
Chromosome Location	chr7:66434352-66434353
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:66426711..66428567-chr7:66432360..66434539,2	K562	blood:

Extended variants
information (count: 121 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs10499785	0.82[ASN][1000 genomes]
rs12531377	0.82[ASN][1000 genomes]
rs12531516	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12532160	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12532307	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12532650	0.81[AMR][1000 genomes]
rs12532888	0.82[ASN][1000 genomes]
rs12533830	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12533958	0.82[ASN][1000 genomes]
rs12534278	0.87[AMR][1000 genomes]
rs12534401	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12535023	0.87[AMR][1000 genomes]
rs12535268	1.00[AFR][1000 genomes]
rs12536130	0.82[ASN][1000 genomes]
rs12537353	0.87[AMR][1000 genomes]
rs12537414	0.87[AMR][1000 genomes]
rs12537825	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12537955	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12538126	1.00[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12539366	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12539604	0.81[AMR][1000 genomes]
rs12539848	0.82[ASN][1000 genomes]
rs12540312	1.00[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12540447	1.00[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12540695	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17567255	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2091314	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2293351	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34758320	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35279320	0.82[ASN][1000 genomes]
rs35448884	0.87[AMR][1000 genomes]
rs3735153	0.82[ASN][1000 genomes]
rs3778911	0.82[ASN][1000 genomes]
rs3800819	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4717323	0.81[AMR][1000 genomes]
rs4717324	0.83[ASN][1000 genomes]
rs4717329	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4717332	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4717335	0.81[AMR][1000 genomes]
rs4718407	0.82[ASN][1000 genomes]
rs4718409	0.82[ASN][1000 genomes]
rs4718426	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4718434	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4718438	0.81[AMR][1000 genomes]
rs4718450	0.87[AMR][1000 genomes]
rs62464646	0.82[ASN][1000 genomes]
rs62464647	0.82[ASN][1000 genomes]
rs62464648	0.82[ASN][1000 genomes]
rs62464651	0.82[ASN][1000 genomes]
rs62464652	0.82[ASN][1000 genomes]
rs62464653	0.82[ASN][1000 genomes]
rs62464654	0.82[ASN][1000 genomes]
rs62464655	0.82[ASN][1000 genomes]
rs62464658	0.82[ASN][1000 genomes]
rs62464659	0.82[ASN][1000 genomes]
rs62465661	0.81[ASN][1000 genomes]
rs62465676	0.82[ASN][1000 genomes]
rs62465678	0.82[ASN][1000 genomes]
rs62465681	0.82[ASN][1000 genomes]
rs62465682	0.82[ASN][1000 genomes]
rs62465688	0.82[ASN][1000 genomes]
rs62465698	0.82[ASN][1000 genomes]
rs62465700	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs62465701	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs62465705	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62465709	0.83[ASN][1000 genomes]
rs62465710	1.00[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs62465712	1.00[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs62465713	1.00[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs62465714	1.00[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs62465716	1.00[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs62465730	1.00[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs62465734	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs62465736	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs62465738	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs62465739	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs62465740	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs62465741	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs62465742	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs62465743	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs62465744	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs62465745	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs62465747	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62465748	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62465750	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62465752	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62466575	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62466578	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62466582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62466584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62466588	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62466589	1.00[AMR][1000 genomes]
rs62466591	0.81[AMR][1000 genomes]
rs62466592	0.81[AMR][1000 genomes]
rs62466594	0.81[AMR][1000 genomes]
rs62466596	0.81[AMR][1000 genomes]
rs62466632	0.87[AMR][1000 genomes]
rs62466633	0.87[AMR][1000 genomes]
rs62466634	0.87[AMR][1000 genomes]
rs62466635	0.87[AMR][1000 genomes]
rs62466637	0.87[AMR][1000 genomes]
rs62466638	0.87[AMR][1000 genomes]
rs62466639	0.87[AMR][1000 genomes]
rs62466640	0.87[AMR][1000 genomes]
rs62466642	0.87[AMR][1000 genomes]
rs62466657	0.87[AMR][1000 genomes]
rs62466659	0.87[AMR][1000 genomes]
rs62468261	0.82[ASN][1000 genomes]
rs62468262	0.82[ASN][1000 genomes]
rs62468263	0.82[ASN][1000 genomes]
rs62468374	0.87[AMR][1000 genomes]
rs62468375	0.87[AMR][1000 genomes]
rs62468378	0.87[AMR][1000 genomes]
rs62468379	0.87[AMR][1000 genomes]
rs62468380	0.87[AMR][1000 genomes]
rs62468381	0.87[AMR][1000 genomes]
rs62468382	0.87[AMR][1000 genomes]
rs7781008	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758118	chr7:66401430-66859253	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic 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 miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv2759535	chr7:66401430-66859253	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv1032575	chr7:66432853-66576034	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62466586	RABGEF1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66420600-66459200	Weak transcription	Psoas Muscle	Psoas
2	chr7:66421400-66435200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:66423400-66435400	Weak transcription	Colonic Mucosa	Colon
4	chr7:66424000-66434400	Weak transcription	Stomach Mucosa	stomach
5	chr7:66424400-66439600	Weak transcription	K562	blood
6	chr7:66424800-66435400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:66425800-66435400	Weak transcription	Gastric	stomach
8	chr7:66425800-66435600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:66425800-66437200	Weak transcription	Fetal Intestine Large	intestine
10	chr7:66425800-66437800	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr7:66426000-66434400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr7:66426400-66435200	Weak transcription	A549	lung
13	chr7:66426400-66453200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:66427000-66435200	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr7:66427000-66444800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:66427200-66438200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:66428200-66435400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr7:66428200-66435600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:66428200-66438000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr7:66433200-66458600	Weak transcription	Right Atrium	heart

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