Variant report

Variant	rs1836985
Chromosome Location	chr3:100651503-100651504
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1036468	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1375510	0.88[CEU][hapmap]
rs1449321	0.80[EUR][1000 genomes]
rs17338729	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs17339226	0.86[CHB][hapmap]
rs2245370	0.96[CEU][hapmap];1.00[CHB][hapmap]
rs2252229	0.96[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2576367	0.92[CEU][hapmap];0.80[EUR][1000 genomes]
rs2576370	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2576380	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2576381	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2576384	0.96[CEU][hapmap];1.00[CHB][hapmap]
rs2576385	0.96[CEU][hapmap];1.00[CHB][hapmap]
rs2576389	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]
rs2576390	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs2595899	0.88[CEU][hapmap]
rs2595907	0.86[CHB][hapmap]
rs2713747	0.81[EUR][1000 genomes]
rs2713749	0.86[CHB][hapmap]
rs2713750	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs2713759	0.89[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]
rs2713762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2713794	1.00[CHB][hapmap]
rs2713798	0.86[CHB][hapmap]
rs6774218	0.86[CHB][hapmap]
rs73143029	0.82[ASN][1000 genomes]
rs7426715	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7609734	0.95[CEU][hapmap];1.00[CHB][hapmap]
rs7632416	0.80[EUR][1000 genomes]
rs7641631	0.86[CHB][hapmap]
rs7646218	0.96[CEU][hapmap];1.00[CHB][hapmap];0.80[EUR][1000 genomes]
rs9826284	1.00[JPT][hapmap]
rs9843102	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1836985	ABI3BP	cis	Artery Tibial	GTEx

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100630200-100673600	Weak transcription	Ovary	ovary
2	chr3:100637600-100660000	Weak transcription	HSMMtube	muscle
3	chr3:100641600-100659400	Weak transcription	Fetal Muscle Leg	muscle
4	chr3:100646600-100659400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:100647400-100657600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:100648800-100660000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr3:100650200-100651800	Weak transcription	Osteobl	bone
8	chr3:100650800-100651600	Enhancers	NHDF-Ad	bronchial
9	chr3:100651000-100655400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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