Variant report

Variant	rs1017439
Chromosome Location	chr3:100599627-100599628
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1370160	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1370161	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1436941	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1816567	0.84[CEU][hapmap];0.80[EUR][1000 genomes]
rs1821794	0.84[CEU][hapmap];0.80[EUR][1000 genomes]
rs1836986	0.94[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1836988	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2083008	0.80[CHB][hapmap]
rs2083009	0.84[AFR][1000 genomes]
rs2118172	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2317331	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3821725	0.94[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4328836	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4928093	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4928095	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6441555	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6778625	0.84[CEU][hapmap];0.80[EUR][1000 genomes]
rs6786325	0.94[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6786332	0.94[CEU][hapmap];0.93[CHB][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6793103	0.81[EUR][1000 genomes]
rs9290245	0.84[CEU][hapmap];0.80[EUR][1000 genomes]
rs975536	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9878937	0.90[CEU][hapmap];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:100583800-100603400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr3:100593200-100601600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr3:100594400-100618200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr3:100594600-100616800	Weak transcription	Ovary	ovary
5	chr3:100594800-100599800	Weak transcription	Hela-S3	cervix
6	chr3:100595200-100600000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr3:100597600-100600200	Enhancers	Adipose Nuclei	Adipose
8	chr3:100597800-100599800	Enhancers	Fetal Lung	lung
9	chr3:100597800-100599800	Enhancers	Fetal Stomach	stomach
10	chr3:100598400-100600200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr3:100598600-100600200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr3:100598600-100602200	Enhancers	NHDF-Ad	bronchial
13	chr3:100598600-100612400	Weak transcription	Colon Smooth Muscle	Colon
14	chr3:100599000-100599800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr3:100599200-100602200	Enhancers	Osteobl	bone
16	chr3:100599200-100603400	Weak transcription	HSMMtube	muscle
17	chr3:100599600-100600000	Enhancers	Stomach Smooth Muscle	stomach
18	chr3:100599600-100600200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr3:100599600-100601600	Weak transcription	Psoas Muscle	Psoas
20	chr3:100599600-100602600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr3:100599600-100610400	Weak transcription	Fetal Muscle Leg	muscle
22	chr3:100599600-100645400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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