Variant report

Variant	rs6815790
Chromosome Location	chr4:122695385-122695386
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11098645	0.81[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11098646	0.80[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11098648	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11731570	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11731917	0.81[CEU][hapmap];0.92[CHB][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12502635	0.94[CHB][hapmap]
rs12512876	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12650359	0.94[CHB][hapmap]
rs1396080	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1507994	0.89[JPT][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1507995	0.89[CHB][hapmap];0.89[JPT][hapmap];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17452156	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2063165	0.93[CHB][hapmap];0.88[JPT][hapmap];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2071486	0.89[JPT][hapmap];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2221628	0.89[CHB][hapmap];0.89[JPT][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3217753	0.94[CHB][hapmap];0.89[JPT][hapmap];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3217771	0.81[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3217773	0.94[CHB][hapmap];0.88[JPT][hapmap];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3217780	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3828485	0.92[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3924987	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4077102	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4516739	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56077950	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56159666	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56311153	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58649165	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61217486	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6534323	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67772833	0.83[EUR][1000 genomes]
rs6821305	0.85[ASN][1000 genomes]
rs6823818	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6824258	0.94[CHB][hapmap]
rs6826506	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6838153	0.92[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6855269	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72680779	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7660548	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7686084	0.81[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7686200	0.94[CHB][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7691955	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs769238	0.81[CEU][hapmap];0.93[CHB][hapmap];0.88[JPT][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7699776	0.81[CEU][hapmap];0.94[CHB][hapmap];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9684587	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817261	chr4:122085173-123020068	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv997539	chr4:122544104-123274266	Genic enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv530157	chr4:122557302-123248756	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv461635	chr4:122633535-122720999	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv595357	chr4:122633535-122720999	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6815790	EXOSC9	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:122689400-122695400	Weak transcription	Fetal Heart	heart
2	chr4:122693000-122697800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr4:122693800-122695400	Enhancers	GM12878-XiMat	blood
4	chr4:122695000-122695400	Enhancers	H9 Cell Line	embryonic stem cell
5	chr4:122695000-122695400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr4:122695000-122695600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr4:122695000-122696000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:122695200-122695400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:122695200-122695400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:122695200-122695400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:122695200-122695600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr4:122695200-122695600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:122695200-122695600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr4:122695200-122695600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:122695200-122695600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:122695200-122695600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr4:122695200-122695800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr4:122695200-122696000	Enhancers	HUES6 Cell Line	embryonic stem cell

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