Variant report

Variant	rs2576389
Chromosome Location	chr3:100668763-100668764
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: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10049238	1.00[JPT][hapmap]
rs1036468	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10511180	1.00[JPT][hapmap]
rs12330346	1.00[JPT][hapmap]
rs1375510	0.81[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1449321	1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17338729	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17339226	0.88[CHB][hapmap]
rs17398137	1.00[JPT][hapmap]
rs1821795	1.00[JPT][hapmap]
rs1836985	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2245370	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2252229	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2304513	1.00[JPT][hapmap]
rs2576367	0.85[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2576370	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2576380	0.81[AMR][1000 genomes]
rs2576381	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2576384	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2576385	0.96[CEU][hapmap];1.00[CHB][hapmap]
rs2576390	0.85[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2595899	0.81[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2713747	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2713749	0.88[CHB][hapmap]
rs2713750	0.85[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2713759	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2713762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2713794	1.00[CHB][hapmap]
rs6774218	0.88[CHB][hapmap]
rs7355920	1.00[JPT][hapmap]
rs7426715	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7609734	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7632416	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7641631	0.88[CHB][hapmap]
rs7646218	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7647099	1.00[JPT][hapmap]
rs7651634	1.00[JPT][hapmap]
rs9653904	1.00[JPT][hapmap]
rs9822089	1.00[JPT][hapmap]
rs9824648	1.00[JPT][hapmap]
rs9825288	1.00[JPT][hapmap]
rs9826284	1.00[JPT][hapmap]
rs9827075	1.00[JPT][hapmap]
rs9827694	1.00[JPT][hapmap]
rs9831620	1.00[JPT][hapmap]
rs9843102	1.00[JPT][hapmap]
rs9844950	1.00[JPT][hapmap]
rs9847485	1.00[JPT][hapmap]
rs9860250	1.00[JPT][hapmap]
rs9862373	1.00[JPT][hapmap]
rs9866199	1.00[JPT][hapmap]
rs9881388	1.00[JPT][hapmap]

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	nsv514163	chr3:100547342-100670846	Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	esv2534604	chr3:100668595-100671661	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2576389	ABI3BP	cis	Artery Tibial	GTEx

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100630200-100673600	Weak transcription	Ovary	ovary
2	chr3:100660600-100673200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr3:100660600-100673600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:100660600-100673600	Weak transcription	Fetal Muscle Leg	muscle
5	chr3:100660800-100672800	Weak transcription	HSMM	muscle
6	chr3:100667000-100675600	Weak transcription	Aorta	Aorta
7	chr3:100667400-100671600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:100667400-100672200	Weak transcription	NHDF-Ad	bronchial
9	chr3:100667400-100672600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:100667400-100672600	Weak transcription	Osteobl	bone
11	chr3:100667400-100673400	Weak transcription	Fetal Stomach	stomach
12	chr3:100667600-100669000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr3:100668600-100671800	Weak transcription	HSMMtube	muscle

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