Variant report

Variant	rs17339226
Chromosome Location	chr3:100691436-100691437
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1036468	0.88[CHB][hapmap]
rs13085823	0.90[ASN][1000 genomes]
rs1375512	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1449299	1.00[ASN][1000 genomes]
rs1530731	1.00[CEU][hapmap];0.85[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1579969	0.90[ASN][1000 genomes]
rs16843153	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17338729	0.88[CHB][hapmap]
rs17340282	0.81[ASN][1000 genomes]
rs1836985	0.86[CHB][hapmap]
rs2245370	0.88[CHB][hapmap]
rs2252229	0.88[CHB][hapmap]
rs2576370	0.88[CHB][hapmap]
rs2576384	0.88[CHB][hapmap]
rs2576385	0.88[CHB][hapmap]
rs2576389	0.88[CHB][hapmap]
rs2595907	1.00[CEU][hapmap];0.86[CHB][hapmap];0.92[GIH][hapmap];0.92[MEX][hapmap];0.93[TSI][hapmap]
rs2713749	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.92[MEX][hapmap];0.93[TSI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2713758	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2713759	0.88[CHB][hapmap]
rs2713762	0.88[CHB][hapmap]
rs2713794	0.88[CHB][hapmap]
rs2713798	1.00[CEU][hapmap];0.86[CHB][hapmap];0.96[GIH][hapmap];0.97[TSI][hapmap]
rs55687619	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55936420	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56077494	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs56237429	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57194842	0.85[EUR][1000 genomes]
rs59476872	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6774218	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6787197	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6787878	0.90[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73141447	0.81[ASN][1000 genomes]
rs73143038	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73143044	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73143061	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73143062	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73143064	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73143072	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73144908	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73144910	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73144915	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73144970	0.90[ASN][1000 genomes]
rs73149160	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7609734	0.88[CHB][hapmap]
rs7621518	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7623956	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7625454	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7637274	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7641631	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7643050	0.86[CHB][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7646218	0.88[CHB][hapmap]
rs959713	0.94[AMR][1000 genomes];0.94[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
rs17339226	ABI3BP	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100682800-100691600	Weak transcription	Osteobl	bone
2	chr3:100686000-100691800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:100687800-100692600	Enhancers	Colon Smooth Muscle	Colon
4	chr3:100687800-100692600	Enhancers	Fetal Stomach	stomach
5	chr3:100688400-100701800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr3:100689000-100692200	Enhancers	HSMMtube	muscle
7	chr3:100689600-100692000	Enhancers	Ovary	ovary
8	chr3:100689600-100692200	Enhancers	Fetal Lung	lung
9	chr3:100689800-100692400	Enhancers	Stomach Smooth Muscle	stomach
10	chr3:100690200-100692600	Enhancers	Rectal Smooth Muscle	rectum
11	chr3:100690200-100693000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr3:100690200-100693200	Enhancers	NHDF-Ad	bronchial
13	chr3:100690600-100692200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr3:100690800-100692600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:100690800-100692600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr3:100690800-100692600	Enhancers	HMEC	breast
17	chr3:100690800-100693200	Enhancers	NHEK	skin
18	chr3:100691000-100695400	Weak transcription	Fetal Muscle Leg	muscle
19	chr3:100691200-100692400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr3:100691200-100692400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr3:100691400-100692000	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:100691400-100692000	Enhancers	HSMM	muscle
23	chr3:100691400-100692200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr3:100691400-100693200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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