Variant report

Variant	rs704575
Chromosome Location	chr3:99486075-99486076
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1016914	0.83[JPT][hapmap]
rs1021102	0.81[JPT][hapmap]
rs1087198	0.82[JPT][hapmap]
rs10936005	0.82[JPT][hapmap]
rs1287283	0.82[JPT][hapmap]
rs13317017	0.82[JPT][hapmap]
rs1607993	1.00[CHB][hapmap]
rs1688782	0.82[JPT][hapmap]
rs2452320	0.82[JPT][hapmap]
rs2452321	0.82[JPT][hapmap]
rs4244711	0.82[JPT][hapmap]
rs4479633	0.82[JPT][hapmap]
rs598174	1.00[CHB][hapmap]
rs6440938	0.82[JPT][hapmap]
rs6809988	0.82[JPT][hapmap]
rs704570	0.91[JPT][hapmap]
rs704573	0.91[JPT][hapmap]
rs704576	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs704583	0.82[JPT][hapmap]
rs7629426	0.83[JPT][hapmap]
rs7636447	0.83[JPT][hapmap]
rs7638900	0.82[JPT][hapmap]
rs792832	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs792834	0.82[JPT][hapmap]
rs792840	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs792841	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs793440	0.82[JPT][hapmap]
rs793445	0.82[JPT][hapmap]
rs793452	0.82[JPT][hapmap]
rs793453	0.82[JPT][hapmap]
rs793460	0.83[JPT][hapmap]
rs793461	0.83[JPT][hapmap]
rs793462	0.82[JPT][hapmap]
rs793463	0.82[JPT][hapmap]
rs793465	0.82[JPT][hapmap]
rs793466	0.82[JPT][hapmap]
rs793467	0.82[JPT][hapmap]
rs793468	0.82[JPT][hapmap]
rs793470	0.82[JPT][hapmap]
rs793474	0.82[JPT][hapmap]
rs793479	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs793480	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs793487	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs793490	0.83[ASN][1000 genomes]
rs793491	0.83[ASN][1000 genomes]
rs793494	0.82[JPT][hapmap]
rs793495	0.82[JPT][hapmap]
rs793503	0.82[JPT][hapmap]
rs796977	0.81[JPT][hapmap]
rs796978	0.82[JPT][hapmap]
rs809415	0.83[JPT][hapmap]
rs812657	0.82[JPT][hapmap]
rs9872871	0.83[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	nsv877217	chr3:99418950-99496351	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv508231	chr3:99442020-99498951	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv817478	chr3:99474086-99955548	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv916476	chr3:99478229-100124625	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99462400-99495600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr3:99472400-99493000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr3:99472400-99493000	Weak transcription	NHEK	skin
4	chr3:99472400-99493400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:99474800-99486200	Weak transcription	NHDF-Ad	bronchial
6	chr3:99482400-99493000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr3:99482600-99486800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr3:99483800-99486800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr3:99484400-99487600	Weak transcription	Right Ventricle	heart
10	chr3:99484400-99493200	Weak transcription	Adipose Nuclei	Adipose
11	chr3:99484400-99493400	Weak transcription	Aorta	Aorta
12	chr3:99484400-99500400	Weak transcription	HSMMtube	muscle
13	chr3:99485000-99487400	Genic enhancers	Osteobl	bone
14	chr3:99485000-99488400	Genic enhancers	HSMM	muscle
15	chr3:99485200-99487200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr3:99485200-99493200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr3:99485200-99493200	Weak transcription	NH-A	brain
18	chr3:99485200-99493200	Weak transcription	NHLF	lung
19	chr3:99485200-99493400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr3:99485400-99487200	Weak transcription	HUVEC	blood vessel
21	chr3:99485800-99487400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:99485800-99489600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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