Variant report

Variant	rs4547964
Chromosome Location	chr5:42680096-42680097
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10038285	0.93[CEU][hapmap];0.82[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10038477	0.94[CEU][hapmap];0.84[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10041108	0.80[CEU][hapmap];0.82[EUR][1000 genomes]
rs10041130	0.82[JPT][hapmap];0.84[EUR][1000 genomes]
rs10044169	0.94[CEU][hapmap];0.84[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10050889	0.93[CEU][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10061833	0.93[CEU][hapmap];0.82[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10063672	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10074740	0.80[CEU][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10077296	0.94[CEU][hapmap];0.84[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10473288	0.92[EUR][1000 genomes]
rs10805665	0.94[CEU][hapmap];0.83[EUR][1000 genomes]
rs10941583	0.82[JPT][hapmap];0.86[EUR][1000 genomes]
rs12513710	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12518067	0.93[CEU][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12521311	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12652476	0.84[JPT][hapmap]
rs12654861	0.84[JPT][hapmap]
rs1423655	0.80[CEU][hapmap];0.82[JPT][hapmap];0.81[EUR][1000 genomes]
rs16872680	0.84[JPT][hapmap]
rs16872694	0.84[JPT][hapmap]
rs16872762	0.82[JPT][hapmap]
rs16872777	0.84[JPT][hapmap]
rs16872779	0.82[JPT][hapmap]
rs16872791	0.84[JPT][hapmap]
rs28551699	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28919903	0.82[JPT][hapmap]
rs2910854	0.81[EUR][1000 genomes]
rs2910860	0.80[CEU][hapmap];0.84[JPT][hapmap];0.81[EUR][1000 genomes]
rs2910863	0.81[EUR][1000 genomes]
rs2910866	0.81[EUR][1000 genomes]
rs2910878	0.93[CEU][hapmap];0.84[JPT][hapmap];0.83[EUR][1000 genomes]
rs2910879	0.84[JPT][hapmap]
rs2972780	0.88[CEU][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes]
rs2972991	0.84[JPT][hapmap]
rs2973004	0.82[JPT][hapmap]
rs2973008	0.81[EUR][1000 genomes]
rs3884519	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4073475	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4073476	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4146624	0.82[JPT][hapmap]
rs4242116	0.93[CEU][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4242117	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4242118	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4242119	0.93[CEU][hapmap];0.82[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4273617	0.93[CEU][hapmap];0.82[JPT][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4315928	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4357041	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4357043	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4376276	0.86[EUR][1000 genomes]
rs4394131	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4419597	0.87[CEU][hapmap]
rs4451056	0.81[CEU][hapmap]
rs4518410	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4523006	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4590183	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4610468	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4612114	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4637559	0.82[JPT][hapmap];0.85[EUR][1000 genomes]
rs4866947	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4866948	0.94[CEU][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4994772	0.81[CEU][hapmap]
rs5025611	0.81[CEU][hapmap]
rs56350930	0.90[EUR][1000 genomes]
rs6179	0.87[CEU][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6182	0.82[JPT][hapmap]
rs6184	0.82[JPT][hapmap]
rs6414898	0.83[EUR][1000 genomes]
rs6451627	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6451632	0.81[CEU][hapmap]
rs6451643	0.80[CEU][hapmap]
rs6864999	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6873340	0.81[EUR][1000 genomes]
rs6873545	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6878461	0.81[CEU][hapmap]
rs6886047	0.88[CEU][hapmap];0.91[EUR][1000 genomes]
rs6897530	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7442690	0.85[CEU][hapmap]
rs7444761	0.82[EUR][1000 genomes]
rs7447061	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7447731	0.81[CEU][hapmap]
rs7701605	0.93[CEU][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7703289	0.82[JPT][hapmap]
rs7715032	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv1020464	chr5:42488628-42699394	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1018751	chr5:42491883-42697923	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1031160	chr5:42610090-42843255	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1019696	chr5:42610090-42844191	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv597886	chr5:42610409-42854408	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv1029933	chr5:42611976-42833385	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv537735	chr5:42611976-42833385	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1019648	chr5:42616487-42696943	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	nsv537736	chr5:42616487-42696943	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42670800-42682200	Weak transcription	Fetal Lung	lung
2	chr5:42677000-42691600	Weak transcription	Aorta	Aorta
3	chr5:42677600-42682600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr5:42679400-42681000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:42679800-42680200	Enhancers	NHDF-Ad	bronchial
6	chr5:42679800-42680800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:42679800-42680800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:42679800-42691600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr5:42680000-42681200	Strong transcription	Liver	Liver

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