Variant report

Variant	rs4577404
Chromosome Location	chr3:98637768-98637769
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10935513	0.86[AMR][1000 genomes]
rs10935514	0.94[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10935587	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1095911	0.81[EUR][1000 genomes]
rs12632798	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12636683	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12695786	0.86[AMR][1000 genomes]
rs13071075	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13081543	0.84[AMR][1000 genomes]
rs13316760	0.90[CEU][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13319666	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1371687	0.95[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1383906	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1383907	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2128052	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2340794	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2449046	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2470873	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2470877	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2470878	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2470880	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs278376	0.95[CEU][hapmap]
rs278379	0.90[CEU][hapmap]
rs278380	0.95[CEU][hapmap];0.83[EUR][1000 genomes]
rs278381	0.95[CEU][hapmap];0.82[EUR][1000 genomes]
rs278382	0.90[CEU][hapmap];0.82[EUR][1000 genomes]
rs278387	0.83[EUR][1000 genomes]
rs278388	0.95[CEU][hapmap];0.83[EUR][1000 genomes]
rs278390	0.89[CEU][hapmap]
rs35483904	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35760367	0.84[AMR][1000 genomes]
rs35936923	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4546099	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4857415	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4857416	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6767370	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6791389	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7615856	0.90[CEU][hapmap];0.89[AMR][1000 genomes]
rs774544	0.81[ASN][1000 genomes]
rs828605	0.95[CEU][hapmap]
rs828610	0.95[CEU][hapmap]
rs828614	0.85[CEU][hapmap]
rs828616	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs828617	0.90[CEU][hapmap]
rs828621	0.84[CEU][hapmap]
rs852701	0.95[CEU][hapmap];0.83[EUR][1000 genomes]
rs8833	0.89[CEU][hapmap]
rs955351	0.95[CEU][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs964163	0.84[ASN][1000 genomes]
rs9682876	0.88[AMR][1000 genomes]
rs9837206	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9842522	0.83[AMR][1000 genomes]
rs9880179	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4577404	DCBLD2	cis	Skin Sun Exposed Lower leg	GTEx
rs4577404	DCBLD2	cis	Adipose Subcutaneous	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:98626600-98641600	Weak transcription	NHLF	lung
2	chr3:98634800-98638200	Weak transcription	HMEC	breast
3	chr3:98635600-98641600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr3:98636400-98637800	Enhancers	NH-A	brain
5	chr3:98636400-98639600	Enhancers	Osteobl	bone
6	chr3:98636400-98641400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr3:98636400-98643600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr3:98636600-98639400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr3:98636600-98639600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr3:98636600-98640800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr3:98636800-98639600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:98637200-98638600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:98637400-98637800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr3:98637400-98637800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr3:98637400-98637800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:98637400-98639800	Enhancers	HSMMtube	muscle
17	chr3:98637400-98640400	Weak transcription	Hela-S3	cervix
18	chr3:98637600-98638000	Weak transcription	NHDF-Ad	bronchial
19	chr3:98637600-98639400	Weak transcription	Fetal Heart	heart
20	chr3:98637600-98640000	Enhancers	A549	lung

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