Variant report

Variant	rs790835
Chromosome Location	chr5:127059558-127059559
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10054323	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10066599	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10072627	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10079426	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1086482	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1123820	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11743016	0.81[JPT][hapmap]
rs1228885	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13182486	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs13188453	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1654087	0.80[EUR][1000 genomes]
rs1710276	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2138273	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs248693	0.84[ASN][1000 genomes]
rs248694	0.96[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs248695	0.83[ASN][1000 genomes]
rs248697	0.83[ASN][1000 genomes]
rs248704	0.81[ASN][1000 genomes]
rs248705	0.96[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs248707	0.96[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs248708	0.81[ASN][1000 genomes]
rs248714	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs248719	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs248723	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs248725	1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs248727	0.92[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs248728	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs248729	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs248734	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2569143	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2673751	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2673762	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34347180	0.86[EUR][1000 genomes]
rs36138701	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36170620	0.83[EUR][1000 genomes]
rs4835930	0.84[EUR][1000 genomes]
rs7731022	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs790832	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs790833	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs790837	0.96[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.85[ASN][1000 genomes]
rs813165	0.80[EUR][1000 genomes]
rs9327450	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]

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	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1021483	chr5:126927834-127304873	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv830480	chr5:126964751-127124522	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv1798341	chr5:127038316-127061310	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127057400-127060200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr5:127058600-127060200	Enhancers	Primary hematopoietic stem cells	blood
3	chr5:127058600-127061600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr5:127059000-127060000	Enhancers	HUVEC	blood vessel
5	chr5:127059000-127060400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr5:127059200-127059600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:127059200-127059600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:127059200-127059600	Enhancers	Adipose Nuclei	Adipose
9	chr5:127059200-127059600	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr5:127059200-127059600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr5:127059200-127059800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:127059200-127059800	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr5:127059200-127059800	Enhancers	Fetal Lung	lung
14	chr5:127059200-127059800	Enhancers	A549	lung
15	chr5:127059200-127059800	Enhancers	Hela-S3	cervix
16	chr5:127059200-127060000	Enhancers	Muscle Satellite Cultured Cells	--
17	chr5:127059200-127060200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr5:127059200-127060400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr5:127059400-127059600	Enhancers	Psoas Muscle	Psoas
20	chr5:127059400-127059800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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