Variant report

Variant	rs62468696
Chromosome Location	chr7:65791401-65791402
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 133 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:129)

rs_ID	r²[population]
rs12530506	0.97[EUR][1000 genomes]
rs12530546	0.97[EUR][1000 genomes]
rs12530746	1.00[EUR][1000 genomes]
rs12531900	0.89[EUR][1000 genomes]
rs12532060	0.97[EUR][1000 genomes]
rs12532173	1.00[EUR][1000 genomes]
rs12532182	1.00[EUR][1000 genomes]
rs12532247	1.00[EUR][1000 genomes]
rs12532249	1.00[EUR][1000 genomes]
rs12532278	1.00[EUR][1000 genomes]
rs12532383	1.00[EUR][1000 genomes]
rs12532423	0.89[EUR][1000 genomes]
rs12532657	0.97[EUR][1000 genomes]
rs12532675	0.89[EUR][1000 genomes]
rs12533387	1.00[EUR][1000 genomes]
rs12533744	0.89[EUR][1000 genomes]
rs12533877	1.00[EUR][1000 genomes]
rs12534039	0.97[EUR][1000 genomes]
rs12534109	0.89[EUR][1000 genomes]
rs12534249	1.00[EUR][1000 genomes]
rs12534263	0.97[EUR][1000 genomes]
rs12534477	0.89[EUR][1000 genomes]
rs12534881	0.85[EUR][1000 genomes]
rs12534985	1.00[EUR][1000 genomes]
rs12535985	0.89[EUR][1000 genomes]
rs12536816	0.89[EUR][1000 genomes]
rs12536818	1.00[EUR][1000 genomes]
rs12537039	1.00[EUR][1000 genomes]
rs12537368	1.00[EUR][1000 genomes]
rs12537698	1.00[EUR][1000 genomes]
rs12537936	0.89[EUR][1000 genomes]
rs12538011	0.97[EUR][1000 genomes]
rs12538113	1.00[EUR][1000 genomes]
rs12538147	0.89[EUR][1000 genomes]
rs12538379	1.00[EUR][1000 genomes]
rs12538686	0.92[EUR][1000 genomes]
rs12538961	1.00[EUR][1000 genomes]
rs12539795	1.00[EUR][1000 genomes]
rs12540667	0.97[EUR][1000 genomes]
rs12540888	0.89[EUR][1000 genomes]
rs1363056	1.00[EUR][1000 genomes]
rs2292936	0.89[EUR][1000 genomes]
rs2292937	0.89[EUR][1000 genomes]
rs35910256	1.00[EUR][1000 genomes]
rs3735145	1.00[EUR][1000 genomes]
rs3735146	1.00[EUR][1000 genomes]
rs3735150	1.00[EUR][1000 genomes]
rs3814466	1.00[EUR][1000 genomes]
rs3815684	1.00[EUR][1000 genomes]
rs4149467	1.00[EUR][1000 genomes]
rs4717291	1.00[EUR][1000 genomes]
rs4717301	1.00[EUR][1000 genomes]
rs4718342	1.00[EUR][1000 genomes]
rs4718345	1.00[EUR][1000 genomes]
rs4718347	0.90[EUR][1000 genomes]
rs4718350	1.00[EUR][1000 genomes]
rs4718353	0.97[EUR][1000 genomes]
rs4718354	1.00[EUR][1000 genomes]
rs4718368	1.00[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[EUR][1000 genomes]
rs62465373	1.00[EUR][1000 genomes]
rs62465376	0.97[EUR][1000 genomes]
rs62465377	0.97[EUR][1000 genomes]
rs62465380	1.00[EUR][1000 genomes]
rs62465389	1.00[EUR][1000 genomes]
rs62465390	0.97[EUR][1000 genomes]
rs62465391	0.95[EUR][1000 genomes]
rs62465392	1.00[EUR][1000 genomes]
rs62465394	1.00[EUR][1000 genomes]
rs62465395	1.00[EUR][1000 genomes]
rs62465396	1.00[EUR][1000 genomes]
rs62465397	1.00[EUR][1000 genomes]
rs62465399	0.92[EUR][1000 genomes]
rs62465400	1.00[EUR][1000 genomes]
rs62465401	1.00[EUR][1000 genomes]
rs62465402	0.97[EUR][1000 genomes]
rs62465403	0.95[EUR][1000 genomes]
rs62465404	1.00[EUR][1000 genomes]
rs62465405	0.92[EUR][1000 genomes]
rs62465422	1.00[EUR][1000 genomes]
rs62465424	1.00[EUR][1000 genomes]
rs62465425	1.00[EUR][1000 genomes]
rs62465426	0.97[EUR][1000 genomes]
rs62465427	0.81[EUR][1000 genomes]
rs62465428	1.00[EUR][1000 genomes]
rs62465429	1.00[EUR][1000 genomes]
rs62465431	1.00[EUR][1000 genomes]
rs62465432	0.97[EUR][1000 genomes]
rs62465433	0.95[EUR][1000 genomes]
rs62465436	0.84[EUR][1000 genomes]
rs62465474	0.84[EUR][1000 genomes]
rs62465475	0.84[EUR][1000 genomes]
rs62465476	0.87[EUR][1000 genomes]
rs62465483	0.82[EUR][1000 genomes]
rs62465484	0.89[EUR][1000 genomes]
rs62465512	0.89[EUR][1000 genomes]
rs62465513	0.89[EUR][1000 genomes]
rs62465515	0.89[EUR][1000 genomes]
rs62465519	0.89[EUR][1000 genomes]
rs62465521	0.89[EUR][1000 genomes]
rs62465522	0.89[EUR][1000 genomes]
rs62465525	0.89[EUR][1000 genomes]
rs62465526	0.89[EUR][1000 genomes]
rs62465527	0.89[EUR][1000 genomes]
rs62465542	0.89[EUR][1000 genomes]
rs62465545	0.82[EUR][1000 genomes]
rs62465546	0.87[EUR][1000 genomes]
rs62465547	0.81[EUR][1000 genomes]
rs62465552	0.89[EUR][1000 genomes]
rs62465554	0.89[EUR][1000 genomes]
rs62468669	0.92[EUR][1000 genomes]
rs62468673	0.95[EUR][1000 genomes]
rs62468674	0.95[EUR][1000 genomes]
rs62468677	1.00[EUR][1000 genomes]
rs62468679	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]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv508458	chr7:65724222-65842639	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1034195	chr7:65743409-65828266	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62468696	RABGEF1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65775600-65795800	Weak transcription	Ovary	ovary
2	chr7:65786600-65797400	Weak transcription	HMEC	breast
3	chr7:65788800-65793600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:65790200-65791600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:65790200-65792400	Enhancers	HUVEC	blood vessel
6	chr7:65790600-65792400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:65790800-65792600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr7:65790800-65792800	Enhancers	NHLF	lung
9	chr7:65791000-65791800	Enhancers	A549	lung
10	chr7:65791000-65792000	Enhancers	NH-A	brain
11	chr7:65791000-65792800	Enhancers	Fetal Lung	lung
12	chr7:65791000-65792800	Enhancers	Hela-S3	cervix
13	chr7:65791000-65792800	Enhancers	Osteobl	bone
14	chr7:65791000-65793000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:65791000-65793000	Enhancers	HSMM	muscle
16	chr7:65791000-65793000	Enhancers	NHDF-Ad	bronchial
17	chr7:65791200-65791800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:65791200-65791800	Enhancers	Liver	Liver
19	chr7:65791200-65791800	Enhancers	Fetal Kidney	kidney
20	chr7:65791200-65791800	Enhancers	HepG2	liver
21	chr7:65791200-65791800	Enhancers	NHEK	skin
22	chr7:65791200-65792200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:65791200-65792600	Enhancers	HSMMtube	muscle
24	chr7:65791200-65793000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:65791400-65791600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:65791400-65791800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr7:65791400-65791800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr7:65791400-65791800	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr7:65791400-65792000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:65791400-65792000	Enhancers	Fetal Stomach	stomach
31	chr7:65791400-65795800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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