Variant report

Variant	rs2340794
Chromosome Location	chr3:98669583-98669584
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10935513	0.80[AMR][1000 genomes]
rs10935514	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10935587	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12632798	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12636683	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs12695786	0.80[AMR][1000 genomes]
rs13071075	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13316760	0.80[AMR][1000 genomes]
rs13319666	0.80[EUR][1000 genomes]
rs1371687	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1383906	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1383907	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2062058	0.81[ASN][1000 genomes]
rs2128052	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2449046	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2470853	0.81[ASN][1000 genomes]
rs2470855	0.81[ASN][1000 genomes]
rs2470870	0.81[ASN][1000 genomes]
rs2470872	0.81[ASN][1000 genomes]
rs2470873	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2470877	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2470878	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2470880	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs278380	0.81[EUR][1000 genomes]
rs278382	0.80[EUR][1000 genomes]
rs278387	0.81[EUR][1000 genomes]
rs278388	0.81[EUR][1000 genomes]
rs35483904	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35936923	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4546099	0.84[EUR][1000 genomes]
rs4577404	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4857415	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4857416	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6767370	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6774875	0.81[ASN][1000 genomes]
rs6791389	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7615628	0.81[ASN][1000 genomes]
rs774537	0.83[AMR][1000 genomes]
rs774544	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs828616	0.81[EUR][1000 genomes]
rs852701	0.81[EUR][1000 genomes]
rs870202	0.81[ASN][1000 genomes]
rs955351	0.80[EUR][1000 genomes]
rs964163	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9837206	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9880179	0.80[EUR][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	nsv591065	chr3:98204198-98766326	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1007140	chr3:98421229-99202458	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv536663	chr3:98421229-99202458	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv877214	chr3:98445324-98738006	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1007486	chr3:98597738-99249081	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	esv3440755	chr3:98666311-98680865	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2340794	DCBLD2	cis	Adipose Subcutaneous	GTEx
rs2340794	DCBLD2	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98664800-98673000	Weak transcription	Osteobl	bone
2	chr3:98666400-98670600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:98667000-98672400	Weak transcription	NHDF-Ad	bronchial
4	chr3:98667800-98671400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr3:98668600-98670200	Weak transcription	A549	lung
6	chr3:98669400-98672600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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