Variant report

Variant	rs7632416
Chromosome Location	chr3:100674779-100674780
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:100667011..100669832-chr3:100673806..100676127,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1375510	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1449321	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1836985	0.80[EUR][1000 genomes]
rs2576367	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2576381	0.82[EUR][1000 genomes]
rs2576389	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2576390	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595899	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2713747	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2713750	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2713759	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2713762	0.84[AMR][1000 genomes];0.88[EUR][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	nsv931417	chr3:100547347-101183844	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	esv2757881	chr3:100613387-100776497	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	esv2759163	chr3:100613387-100776497	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7632416	ABI3BP	cis	Artery Tibial	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100667000-100675600	Weak transcription	Aorta	Aorta
2	chr3:100671800-100677200	Enhancers	Muscle Satellite Cultured Cells	--
3	chr3:100672200-100675200	Weak transcription	Colon Smooth Muscle	Colon
4	chr3:100672200-100677200	Enhancers	NHDF-Ad	bronchial
5	chr3:100672600-100677200	Enhancers	Osteobl	bone
6	chr3:100673200-100675400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr3:100673800-100676600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr3:100674200-100676000	Weak transcription	HSMM	muscle
9	chr3:100674200-100676400	Weak transcription	Fetal Muscle Leg	muscle
10	chr3:100674200-100687600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr3:100674200-100688000	Weak transcription	Ovary	ovary
12	chr3:100674400-100676400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr3:100674400-100676600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr3:100674400-100684600	Weak transcription	Fetal Stomach	stomach
15	chr3:100674600-100675000	Weak transcription	HSMMtube	muscle
16	chr3:100674600-100675400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr3:100674600-100676000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:100674600-100676000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr3:100674600-100676200	Weak transcription	NHEK	skin
20	chr3:100674600-100677200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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