Variant report

Variant	rs1449321
Chromosome Location	chr3:100692009-100692010
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10049238	1.00[JPT][hapmap]
rs1036468	1.00[JPT][hapmap]
rs10511180	1.00[JPT][hapmap]
rs12330346	1.00[JPT][hapmap]
rs1375510	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17338729	1.00[JPT][hapmap]
rs17398137	1.00[JPT][hapmap]
rs1821795	1.00[JPT][hapmap]
rs1836985	0.80[EUR][1000 genomes]
rs2245370	1.00[JPT][hapmap]
rs2252229	1.00[JPT][hapmap]
rs2304513	1.00[JPT][hapmap]
rs2576367	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2576370	1.00[JPT][hapmap]
rs2576381	0.82[EUR][1000 genomes]
rs2576384	1.00[JPT][hapmap]
rs2576389	1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2576390	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2595899	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2713747	0.84[CHB][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2713750	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2713759	1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2713762	1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7355920	1.00[JPT][hapmap]
rs7426715	0.80[EUR][1000 genomes]
rs7609734	1.00[JPT][hapmap]
rs7632416	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7646218	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: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

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100687800-100692600	Enhancers	Colon Smooth Muscle	Colon
2	chr3:100687800-100692600	Enhancers	Fetal Stomach	stomach
3	chr3:100688400-100701800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr3:100689000-100692200	Enhancers	HSMMtube	muscle
5	chr3:100689600-100692200	Enhancers	Fetal Lung	lung
6	chr3:100689800-100692400	Enhancers	Stomach Smooth Muscle	stomach
7	chr3:100690200-100692600	Enhancers	Rectal Smooth Muscle	rectum
8	chr3:100690200-100693000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr3:100690200-100693200	Enhancers	NHDF-Ad	bronchial
10	chr3:100690600-100692200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr3:100690800-100692600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr3:100690800-100692600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr3:100690800-100692600	Enhancers	HMEC	breast
14	chr3:100690800-100693200	Enhancers	NHEK	skin
15	chr3:100691000-100695400	Weak transcription	Fetal Muscle Leg	muscle
16	chr3:100691200-100692400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr3:100691200-100692400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr3:100691400-100692200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr3:100691400-100693200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr3:100691600-100692600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr3:100691600-100695800	Enhancers	Osteobl	bone
22	chr3:100691800-100692600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr3:100691800-100692800	Enhancers	A549	lung
24	chr3:100692000-100694200	Weak transcription	Ovary	ovary
25	chr3:100692000-100695800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr3:100692000-100700200	Weak transcription	HSMM	muscle

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