Variant report

Variant	rs793486
Chromosome Location	chr3:99493165-99493166
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10935917	0.81[EUR][1000 genomes]
rs1610509	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1708167	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs497868	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs498411	0.81[EUR][1000 genomes]
rs652026	0.81[EUR][1000 genomes]
rs669676	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs704571	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs704572	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs704574	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs704577	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs792831	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs792833	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs792835	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs792836	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs792837	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs793481	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs793483	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs793484	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs793485	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877217	chr3:99418950-99496351	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv508231	chr3:99442020-99498951	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv817478	chr3:99474086-99955548	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv916476	chr3:99478229-100124625	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	esv3463437	chr3:99491122-99495551	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription	n/a	n/a	inside rSNPs	n/a
6	esv3463438	chr3:99491122-99495551	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription	n/a	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs793486	C3orf26	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99462400-99495600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr3:99472400-99493400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr3:99484400-99493200	Weak transcription	Adipose Nuclei	Adipose
4	chr3:99484400-99493400	Weak transcription	Aorta	Aorta
5	chr3:99484400-99500400	Weak transcription	HSMMtube	muscle
6	chr3:99485200-99493200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr3:99485200-99493200	Weak transcription	NH-A	brain
8	chr3:99485200-99493200	Weak transcription	NHLF	lung
9	chr3:99485200-99493400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr3:99488200-99493400	Weak transcription	HUVEC	blood vessel
11	chr3:99488400-99493200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr3:99488400-99493200	Weak transcription	Osteobl	bone
13	chr3:99489600-99493200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr3:99490000-99494000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr3:99492000-99517600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr3:99492200-99494200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr3:99493000-99493400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:99493000-99493400	Enhancers	NHEK	skin
19	chr3:99493000-99493800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr3:99493000-99493800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr3:99493000-99494200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr3:99493000-99494200	Enhancers	HMEC	breast
23	chr3:99493000-99496800	Enhancers	NHDF-Ad	bronchial
24	chr3:99493000-99497800	Genic enhancers	HSMM	muscle

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